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A variety of health effects can result from tattooing. Because it requires breaking the skin barrier, tattooing carries inherent health risks, including infection and allergic reactions. Modern tattooists reduce such risks by following universal precautions, working with single-use disposable needles, and sterilising equipment after each use. Many jurisdictions require tattooists to undergo periodic bloodborne pathogen training, such as is provided through the Red Cross and the U.S. Occupational Safety and Health Administration.
Dermatologists have observed rare but severe medical complications from tattoo pigments in the body, and have noted that people acquiring tattoos rarely assess health risks prior to receiving their tattoos. Some medical practitioners have recommended greater regulation of pigments used in tattoo ink. The wide range of pigments currently used in tattoo inks may create unforeseen health problems.
## Contents
* 1 Infection
* 2 Reactions to inks
* 3 MRI complications
* 4 Dermal conditions
* 5 Delayed reactions
* 6 Other adverse effects
* 6.1 Hematoma
* 6.2 Burden on lymphatic system
* 6.3 Interference with melanoma diagnosis
* 6.4 Effects of blood thinners
* 7 References
* 8 Case studies
* 8.1 Reactions to inks
* 8.2 Toxins in inks
* 8.3 Other dermatological reactions
* 8.4 MRI
* 8.5 Lymph nodes and melanoma
## Infection[edit]
Since tattoo instruments come in contact with blood and bodily fluids, diseases may be transmitted if the instruments are used on more than one person without being sterilised. However, infection from tattooing in clean and modern tattoo studios employing single-use needles is rare.[1] With amateur tattoos, such as those applied in prisons, however, there is an elevated risk of infection. To address this problem, a programme was introduced in Canada as of the summer of 2005 that provides legal tattooing in prisons, both to reduce health risks and to provide inmates with a marketable skill. Inmates were to be trained to staff and operate the tattoo parlours once six of them opened successfully.[2]
In the United States, the Red Cross prohibits a person who has received a tattoo from donating blood for 12 months (FDA 2000), unless the procedure was done in a state-regulated and licensed studio, using sterile technique.[3] Not all states have a licensing program, meaning that people who receive tattoos in those states are subject to the 12-month deferral regardless of the hygienic standards of the studio. Similarly, the UK does not provide certification for tattooists, and blood donations are prohibited without exception for four months following a tattoo.[4]
Infections that can theoretically be transmitted by the use of unsterilised tattoo equipment or contaminated ink include surface infections of the skin, hepatitis B, hepatitis C, tuberculosis, and HIV.[1] However, no person in the United States is reported to have contracted HIV via a commercially applied tattooing process.[5] Washington state's OSHA studies have suggested that since the needles used in tattooing are not hollow, in the case of a needle stick injury the amount of fluids transmitted may be small enough that HIV would be difficult to transmit. Tetanus risk is reduced by having an up-to-date tetanus booster prior to being tattooed. According to the Centers for Disease Control and Prevention, of 13,387 hepatitis cases in the USA in 1995, 12 cases (0.09%) were associated with tattoo parlours; by comparison, 43 cases (0.32%) were associated with dentists' offices.[6]
In 2006, the CDC reported 3 clusters with 44 cases of methicillin-resistant staph infection traced to unlicensed tattooists.[7]
## Reactions to inks[edit]
Perhaps due to the mechanism whereby the skin's immune system encapsulates pigment particles in fibrous tissue, tattoo inks have been described as "remarkably nonreactive histologically".[8] However, some allergic reactions have been medically documented. No estimate of the overall incidence of allergic reactions to tattoo pigments exists.[9] Allergies to latex are apparently more common than to inks; many artists will use non-latex gloves when requested. Tattoos may even trigger a positive immune response by strengthening it.[10]
Allergic reactions to tattoo pigments, while uncommon, are most often seen with red, yellow, and occasionally white. Reactions can be triggered by exposure to sunlight.[11] People who are sensitive or allergic to certain metals may react to pigments in the skin with swelling and/or itching, and/or oozing of clear fluid called serum. Such reactions are quite rare, however, and some artists will recommend performing a test patch. Because the mercury and Azo-chemicals in red dyes are more commonly allergenic than other pigments, allergic reactions are most often seen in red tattoos. Less frequent allergic reactions to black, purple, and green pigments have also been noted.
Traditional metallic salts are prevalent in tattoo inks. A 3-by-5-inch (76 by 127 mm) tattoo may contain from 1 to 23 micrograms (1.5×10−5 to 0.000355 gr) of lead, but there is insufficient evidence to assess whether the metallic salts are harmful at this dosage and via this method. However, in 2005, there were no reports of metal toxicity from tattoo ink.[12] Organic pigments (i.e., non-heavy metal pigments) may also pose health concerns. A European Commission noted that close to 40% of organic tattoo colorants used in Europe had not been approved for cosmetic use, and that under 20% of colorants contained a carcinogenic aromatic amine.[13]
## MRI complications[edit]
A few cases of burns on tattoos caused by MRI scans have been documented. Problems tend to occur with designs containing large areas of black ink, since black commonly contains iron oxide; the MRI scanner causes the iron to heat up either by inducing an electric current or hysteresis.[14] Burning can occur on smaller tattoos such as "permanent makeup",[15] but this is rare.[16] Non-ferrous pigments have also been known to cause burns during an MRI.[citation needed] It should be stressed that tattoo burns are rare, so merely having a tattoo does not contraindicate the use of MRI scanning.
## Dermal conditions[edit]
Keloid formation at the site of a tattoo.
The most common dermal reactions to tattoo pigments are granulomas and various lichenoid diseases. Other conditions noted have been cement dermatitis, collagen deposits, discoid lupus erythematosus, eczematous eruptions, hyperkeratosis and parakeratosis, and keloids.[citation needed]
## Delayed reactions[edit]
Hypersensitive reactions to tattoos are known to lay latent for significant periods of time before exhibiting symptoms. Delayed abrupt chronic reactions, such as eczematous dermatitis, are known to manifest themselves from months to as many as twenty years after the patient received their most recent tattoo.[citation needed]
## Other adverse effects[edit]
Other documented conditions caused by tattoo pigments have been carcinoma, hyperplasia, tumours, and vasculitis. Keratoacanthoma may also occur, which makes excision of the affected area mandatory. Eyeball tattoos carry their own unique risks.[17]
### Hematoma[edit]
Occasionally, when a blood vessel is punctured during the tattooing procedure a hematoma (bruise) may appear. Bruises generally heal within one week.[18] Bruises can appear as halos around a tattoo, or, if blood pools, as one larger bruise. This bluish or dark blurry halo that surrounds a tattoo can also be attributed to ink diffusion or 'blow-out'. Commonly mistaken for a hematoma, this discolouration occurs when tattoo pigments spread out into the subcutaneous tissue beneath the dermal skin layer, and may be caused by ink being deposited too deep in the skin.[19]
### Burden on lymphatic system[edit]
Some pigment migrates from a tattoo site to lymph nodes, where large particles may accumulate.[20]
Particles created by laser tattoo removal treatments may be small enough that they are carried away by the lymphatic system and excreted, but this is not always the case;[21] the laser technology used for removal and the composition of the pigment(s) being removed are variable.
### Interference with melanoma diagnosis[edit]
Lymph nodes may become discolored and inflamed with the presence of tattoo pigments, but discoloration and inflammation are also visual indicators of melanoma; consequently, diagnosing melanoma in a patient with tattoos is made difficult, and special precautions must be taken to avoid misdiagnoses.
### Effects of blood thinners[edit]
A regimen of blood thinners may affect the tattooing process, causing excess bleeding. This increased bleeding can slow the process of getting enough ink into the skin. The aftercare healing may also take longer.[22]
## References[edit]
1. ^ a b Tattoos: Risks and precautions to know first - MayoClinic.com
2. ^ Canada to open prison tattoo parlors May 4, 2004, CNN.com
3. ^ "American Red Cross of Tattooing". Archived from the original on 2006-12-17. Retrieved 2009-10-22.
4. ^ Who Cannot Give Blood
5. ^ HIV and Its Transmission Archived 2010-03-04 at the Wayback Machine July 1999, CDC
6. ^ CDC. Hepatitis Surveillance Report No. 56, 1995
7. ^ Centers for Disease Control and Prevention, MMWR 55(24)
8. ^ Tattoo lasers / Histology, Suzanne Kilmer, eMedicine
9. ^ Sewak S, Graham P, Nankervis J (1999). "Tattoo allergy in patients receiving adjuvant radiotherapy for breast cancer". Australas Radiol. 43 (4): 558–61. doi:10.1046/j.1440-1673.1999.00733.x. PMID 10901983.
10. ^ Lynn, Christoper D. (2 October 2019). "Untangling tattoos' influence on immune response". The Conversation (website). Retrieved 10 October 2019.
11. ^ "The world of tattoo and piercing - Tattooistan". Tattooistan. Retrieved 2018-11-27.
12. ^ Metal Toxicity: Tattoos: Safe Symbols?, Environmental Health Perspectives, retrieved 7 September 2014
13. ^ Workshop on "Technical/scientific and regulatory issues on the safety of tattoos, body piercing and of regulated practices", European Commission, 2003
14. ^ Wagle, WA; Smith M. (June 2000). "Tattoo-induced skin burn during MR imaging". American Journal of Roentgenology. 174 (7): 1795. doi:10.2214/ajr.174.6.1741795. PMID 10845532. Retrieved 1 July 2010.
15. ^ Offret, H; Offret M; Labetoulle M; Offret O. (February 2009). "Permanent cosmetics and magnetic resonance imaging". Journal Français d'Ophtalmologie. 32 (2): 131.e1–3. doi:10.1016/j.jfo.2008.07.002. PMID 20579475.
16. ^ Tope, WD; Shellock FG (February 2002). "Magnetic resonance imaging and permanent cosmetics (tattoos): survey of complications and adverse events". Journal of Magnetic Resonance Imaging. 15 (2): 180–4. doi:10.1002/jmri.10049. PMID 11836774.
17. ^ Murphy, Cheryl G. (30 October 2017). "The Terrifying Trend of Eyeball Tattoos". Scientific American Blogs. Scientific American. Retrieved 30 October 2017.
18. ^ All Experts, New Tattoo - Bruising or Leaking, archived from the original on 2012-05-19, retrieved 2009-10-08
19. ^ "The Definitive Tattoo Aftercare Guide". Dr. Jason K. Rivers, MD, FRCPC, DABD, FAAD (Dermatologist). Retrieved 2014-03-19.
20. ^ "Think Before You Ink: Are Tattoos Safe?". FDA. 20 May 2019.[failed verification]
21. ^ "Tattoo Removal: Options and Results". FDA. 22 June 2017.[failed verification]
22. ^ "Community Answers".
## Case studies[edit]
### Reactions to inks[edit]
* Mortimer NJ, Chave TA, Johnston GA (2003). "Red tattoo reactions". Clin Exp Dermatol. 28 (5): 508–10. doi:10.1046/j.1365-2230.2003.01358.x. PMID 12950341.
* Lubeck G, Epstein E (1952). "Complications of tattooing". Calif Med. 76 (2): 83–5. PMC 1521348. PMID 14905289.
* Engel E, Santarelli F, Vasold R, et al. (2008). "Modern tattoos cause high concentrations of hazardous pigments in skin". Contact Dermatitis. 58 (4): 228–33. doi:10.1111/j.1600-0536.2007.01301.x. PMID 18353031.
* Steinbrecher I, Hemmer W, Jarisch R (2004). "Adverse reaction to the azo dye Pigment Red 170 in a tattoo". J Dtsch Dermatol Ges. 2 (12): 1007–8. PMID 16285314.
* Kleinerman R, Greenspan A, Hale EK (2007). "Mohs micrographic surgery for an unusual case of keratoacanthoma arising from a longstanding tattoo". J Drugs Dermatol. 6 (9): 931–2. PMID 17941365.
* Pauluzzi P, Giordani M, Guarneri GF, et al. (1998). "Chronic eczematous reaction to red tattoo". J Eur Acad Dermatol Venereol. 11 (2): 187–8. doi:10.1111/j.1468-3083.1998.tb00780.x. PMID 9784053.
* Kluger N, Minier-Thoumin C, Plantier F (2008). "Keratoacanthoma occurring within the red dye of a tattoo". J Cutan Pathol. 35 (5): 504–7. doi:10.1111/j.1600-0560.2007.00833.x. PMID 17976209.
* Winkelmann RK, Harris RB (1979). "Lichenoid delayed hypersensitivity reactions in tattoos". J Cutan Pathol. 6 (1): 59–65. doi:10.1111/j.1600-0560.1979.tb00306.x. PMID 438395.
* Verdich J (1981). "Granulomatous reaction in a red tattoo". Acta Derm Venereol. 61 (2): 176–7. PMID 6165203.
* Cairns RJ, Calnan CD (1962). "Green tattoo reactions associated with cement dermatitis". Br J Dermatol. 74 (8–9): 288–94. doi:10.1111/j.1365-2133.1962.tb13513.x. PMID 13875622.
* Balfour E, Olhoffer I, Leffell D, et al. (2003). "Massive pseudoepitheliomatous hyperplasia: an unusual reaction to a tattoo". Am J Dermatopathol. 25 (4): 338–40. doi:10.1097/00000372-200308000-00010. PMID 12876493.
* Schwartz RA, Mathias CG, Miller CH, et al. (1987). "Granulomatous reaction to purple tattoo pigment". Contact Dermatitis. 16 (4): 198–202. doi:10.1111/j.1600-0536.1987.tb01424.x. PMID 3595119.
* Morales-Callaghan AM Jr; Aguilar-Bernier M Jr; Martínez-García G; et al. (2006). "Sarcoid granuloma on black tattoo". J Am Acad Dermatol. 55 (5 Suppl): S71-3. doi:10.1016/j.jaad.2005.12.022. PMID 17052538.
* Cui W, McGregor DH, Stark SP, et al. (2007). "Pseudoepitheliomatous hyperplasia - an unusual reaction following tattoo: report of a case and review of the literature". Int J Dermatol. 46 (7): 743–5. doi:10.1111/j.1365-4632.2007.03150.x. PMID 17614808.
* Biro L, Klein WP (1967). "Unusual complications of mercurial (cinnabar) tattoo. Generalized eczematous eruption following laceration of a tattoo". Arch Dermatol. 96 (2): 165–7. doi:10.1001/archderm.1967.01610020057017. PMID 6039153.
* Antal AS, Hanneken S, Neumann NJ, et al. (2008). "Erhebliche zeitliche Variationsbreite von Komplikationen nach Tätowierungen". Der Hautarzt. 59 (10): 769–71. doi:10.1007/s00105-008-1631-y. PMID 18773181.
### Toxins in inks[edit]
* Civatte J, Bazex J (2007). "Piercing and tattooing: regulation is needed to reduce complications". Bull Acad Natl Med. 191 (9): 1819–38. PMID 18663977.
* Hannuksela M (2005). "Tattoo pigments contains toxic compounds, but legislators do not pay attention". Duodecim. 121 (17): 1802–2. PMID 16262117.
* Möhrenschlager M, Worret WI, Köhn FM (2006). "Tattoos and permanent make-up: background and complications". MMW Fortschr Med. 148 (41): 34–6. doi:10.1007/bf03364782. PMID 17190258.
* Poon, Kelvin Weng Chun (2008), In situ chemical analysis of tattooing inks and pigments: modern organic and traditional pigments in ancient mummified remains, University of Western Australia
* Wollina U, Gruner M, Schönlebe J (2008). "Granulomatous tattoo reaction and erythema nodosum in a young woman: common cause or coincidence?". J Cosmet Dermatol. 7 (2): 84–8. doi:10.1111/j.1473-2165.2008.00368.x. PMID 18482009.
### Other dermatological reactions[edit]
* Kazandjieva J, Tsankov N (2007). "Tattoos: dermatological complications". Clin Dermatol. 25 (4): 375–82. doi:10.1016/j.clindermatol.2007.05.012. PMID 17697920.
* Kluger N (2012). "Acute complications of tattooing presenting in the ED". Am J Emerg Med. 30 (9): 2055–2063. doi:10.1016/j.ajem.2012.06.014. PMID 22944541.
* Müller KM, Schmitz I, Hupe-Nörenberg L (2002). "Reaction patterns to cutaneous particulate and ornamental tattoos". Der Pathologe. 23 (1): 46–53. PMID 11974503.
* Papageorgiou PP, Hongcharu W, Chu AC (1999). "Systemic sarcoidosis presenting with multiple tattoo granulomas and an extra-tattoo cutaneous granuloma". J Eur Acad Dermatol Venereol. 12 (1): 51–3. doi:10.1111/j.1468-3083.1999.tb00809.x. PMID 10188151.
* Schmitz I, Müller KM (2004). "Elemental analysis of tattoo dyes: is there a potential risk from tattoo dyes?". J Dtsch Dermatol Ges. 2 (5): 350–3. doi:10.1046/j.1439-0353.2004.04755.x. PMID 16281523.
### MRI[edit]
* Klitscher D, Blum J, Kreitner KF, et al. (2005). "MRT-induced burns in tattooed patients: Case report of a traumatic surgery patient". Unfallchirurg. 108 (5): 410–4. doi:10.1007/s00113-004-0877-9. PMID 15909207.
* Stecco A, Saponaro A, Carriero A (2007). "Patient safety issues in magnetic resonance imaging: state of the art". Radiol Med. 112 (4): 491–508. doi:10.1007/s11547-007-0154-4. PMID 17563855.
* Wagle WA, Smith M (2000). "Tattoo-induced skin burn during MR imaging". AJR Am J Roentgenol. 174 (6): 1795. doi:10.2214/ajr.174.6.1741795. PMID 10845532.
* Vahlensieck M (2000). "Tattoo-related cutaneous inflammation (burn grade I) in a mid-field MR scanner". Eur Radiol. 10 (1): 197. doi:10.1007/s003300050034. PMID 10663745.
* Franiel T, Schmidt S, Klingebiel R (2006). "First-degree burns on MRI due to nonferrous tattoos". AJR Am J Roentgenol. 187 (5): W556. doi:10.2214/AJR.06.5082. PMID 17056894.
### Lymph nodes and melanoma[edit]
* Gutermuth J, Hein R, Fend F, et al. (2007). "Cutaneous pseudolymphoma arising after tattoo placement". J Eur Acad Dermatol Venereol. 21 (4): 566–7. doi:10.1111/j.1468-3083.2006.01964.x. PMID 17374006.
* Gall N, Bröcker EB, Becker JC (2007). "Particularities in managing melanoma patients with tattoos: case report and review of the literature". J Dtsch Dermatol Ges. 5 (12): 1120–1. doi:10.1111/j.1610-0387.2007.06386.x. PMID 17919304.
* Chikkamuniyappa S, Sjuve-Scott R, Lancaster-Weiss K, et al. (2005). "Tattoo pigment in sentinel lymph nodes: a mimicker of metastatic malignant melanoma". Dermatol Online J. 11 (1): 14. PMID 15748555.
* Hannah H, Falder S, Steele PR, et al. (2000). "Tattoo pigment masquerading as secondary malignant melanoma". Br J Plast Surg. 53 (4): 359. doi:10.1054/bjps.2000.3346. PMID 10876271.
* Kluger N, Jolly M, Guillot B (2008). "Tattoo-induced vasculitis". J Eur Acad Dermatol Venereol. 22 (5): 643–4. doi:10.1111/j.1468-3083.2008.02729.x. PMID 18384545.
* Sperry K (1992). "Tattoos and tattooing. Part II: Gross pathology, histopathology, medical complications, and applications". Am J Forensic Med Pathol. 13 (1): 7–17. doi:10.1097/00000433-199203000-00003. PMID 1585890.
* Zirkin HJ, Avinoach I, Edelwitz P (2001). "A tattoo and localized lymphadenopathy: a case report". Cutis. 67 (6): 471–2. PMID 11419018.
* v
* t
* e
Tattoos and Tattooing
Topics
* History
* Health effects
* Religious perspectives
* Removal
Categories
* Cover-up
* Criminal
* Medical
* Permanent makeup
* Temporary
* UV
Process and
technique
* Artist
* Ink
* Machine
* Microblading
Traditions
and styles
* Black-and-gray
* Burmese
* Flash
* Japanese (Irezumi)
* Maori (Tā moko)
* Marquesan
* Old school
* Sailor
* Samoan (Malu/Peʻa)
* Trash Polka
* Khmer/Cambodian(Yantra)
Bodily location
* Body suit
* Cornea
* Face
* Genital
* Lower-back
* Scalp
* Sclera
* Sleeve
Legal status in...
* the European Union
* South Korea
* the United States
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Health effects of tattoos | c2732997 | 7,200 | wikipedia | https://en.wikipedia.org/wiki/Health_effects_of_tattoos | 2021-01-18T19:00:16 | {"umls": ["C2732997"], "wikidata": ["Q7688463"]} |
## Description
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).
For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700.
Mapping
Wojciechowski et al. (2006) measured refractive error in individuals from 49 multigenerational Ashkenazi Jewish families with at least 2 myopic members, previously studied by Stambolian et al. (2004) (see MYP6; 608908), and performed microsatellite genotyping with 387 markers on 411 individuals. Multipoint regression-based QTL linkage analysis yielded lod scores of 9.5 for ocular refraction and 8.7 for log-transformed refraction for an 11-Mb region on chromosome 1p36 between markers D1S552 and D1S1622. Empiric genomewide significance levels were p = 0.065 for ocular refraction and p less than 0.005 for log-transformed refraction.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| MYOPIA 14 | c1853196 | 7,201 | omim | https://www.omim.org/entry/610320 | 2019-09-22T16:04:43 | {"mesh": ["C565202"], "omim": ["610320"]} |
Laugier–Hunziker syndrome
SpecialtyDermatology
Laugier–Hunziker syndrome (/ˈloʊʒieɪ ˈhʊntsɪkər/) is a cutaneous condition characterized by hyperpigmentation of the oral mucosa,[1] longitudinal melanonychia,[1] and genital melanosis.[2]
The hyperpigmentation presented in Laugier-Hunziker syndrome is benign and should be differentiated from Peutz-Jeghers syndrome.
## See also[edit]
* Peutz–Jeghers syndrome
* List of cutaneous conditions
## References[edit]
1. ^ a b Nayak, RS; et al. (2012), "Laugier–Hunziker syndrome", J Oral Maxillofac Pathol, 16 (2): 245–250, doi:10.4103/0973-029X.99079, PMC 3424942, PMID 22923898.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
This dermatology article is a stub. You can help Wikipedia by expanding it.
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Recurrent miscarriage
Other namesHabitual abortion, recurrent pregnancy loss (RPL)
SpecialtyObstetrics
Recurrent miscarriage is two or more consecutive pregnancy losses.[1] In contrast, infertility is the inability to conceive. In many cases the cause of RPL is unknown. After three or more losses, a thorough evaluation is recommended by American Society of Reproductive Medicine.[2] About 1% of couples trying to have children are affected by recurrent miscarriage.[3][4]
## Contents
* 1 Causes
* 1.1 Chromosomal disorders
* 1.2 Lifestyle factors
* 1.3 Anatomical conditions
* 1.3.1 Cervical conditions
* 1.4 Endocrine disorders
* 1.5 Thrombophilia
* 1.6 Immune factors
* 1.6.1 Antiphospholipid syndrome
* 1.6.2 Thyroid antibodies
* 1.6.3 Increased uterine NK cells
* 1.6.4 Parental HLA sharing
* 1.6.5 Male-specific minor histocompatibility
* 1.7 Ovarian factors
* 1.7.1 Luteal phase defect
* 1.8 Infection
* 2 Assessment
* 3 Treatment
* 4 Psychological effects of miscarriages
* 5 Association with later disease
* 6 References
* 7 Bibliography
* 8 External links
## Causes[edit]
Relative incidences of causative findings in cases with recurrent miscarriage.[5]
There are various causes for recurrent miscarriage, and some can be treated. Some couples never have a cause identified, often after extensive investigations.[6] About 50–75% of cases of recurrent miscarriage are unexplained.[2]
### Chromosomal disorders[edit]
A balanced translocation or Robertsonian translocation in one of the partners leads to unviable fetuses that are miscarried. This explains why a karyogram is often performed in both partners if a woman has experienced repeated miscarriages.[7]
Aneuploidy may be a cause of a random spontaneous as well as recurrent pregnancy loss.[8] Aneuploidy is more common with advanced reproductive age reflecting decreased germ cell quality.[9][10]
Larger chromosomal disorders are generally detected on karyotype. In couples where a miscarried embryo has an abnormal karyotype, 76% of subsequent miscarried embryos have shown abnormal karyotypes as well. On the other hand, this group of couples have a better long-term live birth rate than those where miscarried embryos have normal karyotype.[5]
### Lifestyle factors[edit]
While lifestyle factors have been associated with increased risk for miscarriage in general, and are usually not listed as specific causes for RPL, every effort should be made to address these issues in patients with RPL. Of specific concern are chronic exposures to toxins including smoking, alcohol, and drugs.[8]
### Anatomical conditions[edit]
Fifteen percent of women who have experienced three or more recurring miscarriages have some anatomical reason for the inability to complete the pregnancy.[11] The structure of the uterus has an effect on the ability to carry a child to term. Anatomical differences are common and can be congenital.
Type of Uterine
structure Miscarriage rate
associated with defect References
Bicornate uterus 40–79% [12][13]
Septate or unicornate 34–88% [12][14]
Arcuate unknown [12][14]
Didelphhys 40% [12][14]
Fibroids unknown [15]
#### Cervical conditions[edit]
In the second trimester a weak cervix can become a recurrent problem. Such cervical incompetence leads to premature pregnancy loss resulting in miscarriages or preterm deliveries. It has been estimated that cervical insufficiency is a cause in about 8% of women with second trimester recurrent miscarriages.[16]
### Endocrine disorders[edit]
Women with hypothyroidism are at increased risk for pregnancy losses. Unrecognized or poorly treated diabetes mellitus leads to increased miscarriages. Women with polycystic ovary syndrome also have higher loss rates possibly related to hyperinsulinemia or excess androgens. Inadequate production of progesterone in the luteal phase may set the stage for RPL (see below).
### Thrombophilia[edit]
An important example is the possible increased risk of miscarriage in women with thrombophilia (propensity for blood clots). The most common problem is the factor V Leiden and prothrombin G20210A mutation.[8] Some preliminary studies suggest that anticoagulant medication may improve the chances of carrying pregnancy to term but these studies need to be confirmed before they are adopted in clinical practice.[17] Note that many women with thrombophilia go through one or more pregnancies with no difficulties, while others may have pregnancy complications. Thrombophilia may explain up to 49–65% of recurrent miscarriages.[18]
### Immune factors[edit]
A common feature of immune factors in causing recurrent pregnancy loss appears to be a decreased maternal immune tolerance towards the fetus.[19]
#### Antiphospholipid syndrome[edit]
The antiphospholipid syndrome is an autoimmune disease that is a common cause of recurrent pregnancy loss.[4][8] Around 15% of the women who have recurrent miscarriages have high levels of antiphospholipid antibodies.[4] Women who have had more than one miscarriage in the first trimester, or a miscarriage in the second trimester, may have their blood tested for antibodies, to determine if they have antiphospholipid syndrome.[4] Women diagnosed with antiphospholipid syndrome generally take aspirin or heparin in subsequent pregnancies, but questions remain due to the lack of high quality trials.[20][21]
#### Thyroid antibodies[edit]
Anti-thyroid autoantibodies are associated with an increased risk of recurrent miscarriage with an odds ratio of 2.3 with a 95% confidence interval of 1.5–3.5.[22]
#### Increased uterine NK cells[edit]
Natural killer cells, a type of white blood cell, are present in uterine tissue. High levels of these cells may be linked to RPL but high numbers or the presence of these cells is not a predictor of pregnancy loss in women who have not have had a miscarriage.[23]
#### Parental HLA sharing[edit]
Earlier studies that perhaps paternal sharing of HLA genes would be associated with increased pregnancy loss have not been confirmed.[citation needed]
#### Male-specific minor histocompatibility[edit]
Immunization of mothers against male-specific minor histocompatibility (H-Y) antigens has a pathogenic role in many cases of secondary recurrent miscarriage, that is, recurrent miscarriage in pregnancies succeeding a previous live birth. An example of this effect is that the male:female ratio of children born prior and subsequent to secondary recurrent miscarriage is 1.49 and 0.76 respectively.[24]
### Ovarian factors[edit]
#### Luteal phase defect[edit]
The issue of a luteal phase defect is complex. The theory behind the concept suggests that an inadequate amount of progesterone is produced by the corpus luteum to maintain the early pregnancy. Assessment of this situation was traditionally carried out by an endometrial biopsy, however recent studies have not confirmed that such assessment is valid.[8] Studies about the value of progesterone supplementation remain deficient, however, such supplementation is commonly carried out on an empirical basis.[citation needed]
### Infection[edit]
Infections are estimated to be responsible for between 0.5 and 5% of cases with recurrent miscarriage.[25] The main suspected pathogens are mycoplasma, ureaplasma, Chlamydia trachomatis, Listeria monocytogenes, and herpes simplex virus.[25] An infectious evaluation may be warranted in people with immunodeficiency, or with signs of chronic endometritis/cervicitis on examination,.[25] Otherwise, there is no evidence that routine infectious evaluation is appropriate or productive.[25]
Chronic endometritis (CE) due to common bacteria has been found to be prevalent in some women with a history of recurrent miscarriage. One study found that 71 percent of women who tested positive for this condition were successfully treated by an antibiogram-based antibiotic treatment. 78.4 percent of these women subsequently became pregnant in the year following treatment. The study concludes that "CE is frequent in women with recurrent miscarriages," and that "antibiotic treatment seems to be associated with an improved reproductive outcome." The authors also conclude, "that hysteroscopy should be a part of the diagnostic workup of infertile women complaining of unexplained recurrent miscarriage.".[26] Despite challenges in diagnosing chronic endometritis, often done by identifying plasma cells within the lining of the womb, a recent study identified women with chronic endometritis were more likely to have a miscarriage than women without.[27]
## Assessment[edit]
Transvaginal ultrasonography has become the primary method of assessment of the health of an early pregnancy.
In non-pregnant patients who are evaluated for recurrent pregnancy loss the following tests are usually performed. Parental chromosome testing (karyogram) is generally recommended after 2 or 3 pregnancy losses. Blood tests for thrombophilia, ovarian function, thyroid function and diabetes are performed.
## Treatment[edit]
If the likely cause of recurrent pregnancy loss can be determined treatment is to be directed accordingly. In pregnant women with a history of recurrent miscarriage, anticoagulants seem to increase the live birth rate among those with antiphospholipid syndrome and perhaps those with congenital thrombophilia but not in those with unexplained recurrent miscarriage.[28] One study found that in many women with chronic endometritis, "fertility was restored after appropriate antibiotic treatment."[26]
There are currently no treatments for women with unexplained recurrent pregnancy loss. The majority of patients are counseled to try to conceive again, and chances are about 60% that the next pregnancy is successful without treatment.[8] However, each additional loss worsens the prognostic for a successful pregnancy and increases the psychological and physical risks to the mother. Aspirin has no effect in preventing recurrent miscarriage in women with unexplained recurrent pregnancy loss.[29] Immunotherapy has not been found to help.[30] There is currently one drug in development, NT100, which is in clinical trials for the treatment of unexplained recurrent miscarriage. The study investigates the role of NT100 in improving maternal-fetal tolerance for women with unexplained recurrent miscarriage.[31]
In certain chromosomal situations, while treatment may not be available, in vitro fertilization with preimplantation genetic diagnosis may be able to identify embryos with a reduced risk of another pregnancy loss which then would be transferred. However, in vitro fertilization does not improve maternal-fetal tolerance imbalances.[citation needed]
Close surveillance during pregnancy is generally recommended for pregnant patients with a history of recurrent pregnancy loss. Even with appropriate and correct treatment another pregnancy loss may occur as each pregnancy develops its own risks and problems.[citation needed]
## Psychological effects of miscarriages[edit]
Main article: Miscarriage and grief
There is significant, and often unrecognized, psychological and psychiatric trauma for the mother – for many, miscarriage represents the loss of a future child, of motherhood, and engenders doubts regarding her ability to procreate.[32]
"There is tremendous psychological impact of recurrent miscarriage. Psychological support in the form of frequent discussions and sympathetic counseling are crucial to the successful evaluation and treatment of the anxious couple. When no etiologic factor is identified, no treatment started at 60% to 80% fetal salvage rate still may be expected. Therefore, couples with unexplained recurrent miscarriage should be offered appropriate emotional support and reassurance."[33]
## Association with later disease[edit]
Recurrent miscarriage in itself is associated with later development of coronary artery disease with an odds ratio of approximately 2,[34] increased risk of ovarian cancer,[35] increased risk of cardiovascular complications,[36] and an increased risk of all-cause mortality of 44%, 86%, and 150% for women with a history of 1, 2, or 3 miscarriages, respectively.[37]
Women with a history of recurrent miscarriage are at risk of developing preeclampsia in later pregnancies.[38]
## References[edit]
1. ^ Jeve YB, Davies W (July 2014). "Evidence-based management of recurrent miscarriages". Journal of Human Reproductive Sciences. 7 (3): 159–69. doi:10.4103/0974-1208.142475. PMC 4229790. PMID 25395740.
2. ^ a b "Archived copy". Archived from the original on April 3, 2015. Retrieved April 2, 2015.CS1 maint: archived copy as title (link)
3. ^ American College of Obstetricians and Gynecologists (ACOG) Repeated Miscarriage FAQ 100 http://www.acog.org/-/media/For-Patients/faq100.pdf?dmc=1&ts=20150820T1255284207
4. ^ a b c d Royal College of Obstetricians and Gynaecologists (RCOG) (April 2011). "The investigation and treatment of couples with recurrent first-trimester and second-trimester miscarriage" (PDF). Green-top Guideline No. 17. Royal College of Obstetricians and Gynaecologists (RCOG). Archived from the original (PDF) on 5 July 2013. Retrieved 2 July 2013.
5. ^ a b Sugiura-Ogasawara, M.; Ozaki, Y.; Katano, K.; Suzumori, N.; Kitaori, T.; Mizutani, E. (2012). "Abnormal embryonic karyotype is the most frequent cause of recurrent miscarriage". Human Reproduction. 27 (8): 2297–2303. doi:10.1093/humrep/des179. ISSN 0268-1161. PMID 22661547.
6. ^ "The Investigation and Treatment of Couples with Recurrent Miscarriage: Guideline No 17" (PDF). Royal College of Obstetricians and Gynaecologists. Archived from the original (PDF) on 2013-07-05.
7. ^ Branch DW, Gibson M, Silver RM (October 2010). "Clinical practice. Recurrent miscarriage". The New England Journal of Medicine. 363 (18): 1740–7. doi:10.1056/NEJMcp1005330. PMID 20979474.
8. ^ a b c d e f "Management of Early Pregnancy Loss". ACOG Practice Bulletin. American College of Obstetricians and Gynecologists. 24 (February). 2001.
9. ^ Angell RR (July 1994). "Aneuploidy in older women. Higher rates of aneuploidy in oocytes from older women". Human Reproduction. 9 (7): 1199–200. doi:10.1093/oxfordjournals.humrep.a138675. PMID 7962415.
10. ^ MacLennan M, Crichton JH, Playfoot CJ, Adams IR (September 2015). "Oocyte development, meiosis and aneuploidy". Seminars in Cell & Developmental Biology. 45: 68–76. doi:10.1016/j.semcdb.2015.10.005. PMC 4828587. PMID 26454098.
11. ^ Hoffman, p. 181.
12. ^ a b c d Hoffman, p. 181–182.
13. ^ Ali O, Hakimi I, Chanana A, Habib MA, Guelzim K, Kouach J, et al. (2015). "[Term pegnancy on septate uterus: report of a case and review of the literature]". The Pan African Medical Journal. 22: 219. doi:10.11604/pamj.2015.22.219.7790. PMC 4760728. PMID 26955410.
14. ^ a b c Choices, NHS. "Miscarriage - Causes - NHS Choices". www.nhs.uk.
15. ^ Cite error: The named reference `auto1/balck` was invoked but never defined (see the help page).
16. ^ Alfirevic, Zarko; Stampalija, Tamara; Medley, Nancy (2017). "Cervical stitch (cerclage) for preventing preterm birth in singleton pregnancy". Cochrane Database of Systematic Reviews. 6: CD008991. doi:10.1002/14651858.CD008991.pub3. ISSN 1465-1858. PMC 6481522. PMID 28586127.
17. ^ Rodger MA, Paidas M, McLintock C, Claire M, Middeldorp S, Kahn S, et al. (August 2008). "Inherited thrombophilia and pregnancy complications revisited". Obstetrics and Gynecology. 112 (2 Pt 1): 320–4. doi:10.1097/AOG.0b013e31817e8acc. PMID 18669729.
18. ^ Nahas R, Saliba W, Elias A, Elias M (January 2018). "The Prevalence of Thrombophilia in Women With Recurrent Fetal Loss and Outcome of Anticoagulation Therapy for the Prevention of Miscarriages". Clinical and Applied Thrombosis/Hemostasis. 24 (1): 122–128. doi:10.1177/1076029616675967. PMC 6714626. PMID 27799457.
19. ^ Williams Z (September 2012). "Inducing tolerance to pregnancy". The New England Journal of Medicine. 367 (12): 1159–61. doi:10.1056/NEJMcibr1207279. PMC 3644969. PMID 22992082.
20. ^ Empson M, Lassere M, Craig J, Scott J (April 2005). "Prevention of recurrent miscarriage for women with antiphospholipid antibody or lupus anticoagulant". The Cochrane Database of Systematic Reviews (2): CD002859. doi:10.1002/14651858.CD002859.pub2. PMC 6768987. PMID 15846641.
21. ^ Patient’s Fact Sheet: Recurrent Pregnancy Lost. American Society for Reproductive Medicine, 8/2008
22. ^ van den Boogaard E, Vissenberg R, Land JA, van Wely M, van der Post JA, Goddijn M, et al. (2011). "Significance of (sub)clinical thyroid dysfunction and thyroid autoimmunity before conception and in early pregnancy: a systematic review". Human Reproduction Update. 17 (5): 605–19. doi:10.1093/humupd/dmr024. PMID 21622978.
23. ^ Christiansen O (2014). Recurrent pregnancy loss. Chichester, West Sussex, UK: John Wiley & Sons. pp. 29–37. ISBN 9781118749180.
24. ^ Nielsen HS (2011). "Secondary recurrent miscarriage and H-Y immunity". Human Reproduction Update. 17 (4): 558–74. doi:10.1093/humupd/dmr005. PMID 21482560.
25. ^ a b c d Ford HB, Schust DJ (2009). "Recurrent pregnancy loss: etiology, diagnosis, and therapy". Rev Obstet Gynecol. 2 (2): 76–83. PMC 2709325. PMID 19609401.
26. ^ a b Cicinelli E, Matteo M, Tinelli R, Pinto V, Marinaccio M, Indraccolo U, et al. (May 2014). "Chronic endometritis due to common bacteria is prevalent in women with recurrent miscarriage as confirmed by improved pregnancy outcome after antibiotic treatment". Reproductive Sciences. 21 (5): 640–7. doi:10.1177/1933719113508817. PMC 3984485. PMID 24177713.
27. ^ Rimmer MP, Fishwick K, Henderson I, Chinn D, Al Wattar BH and Quenby S. Quantifying CD138+ cells in the endometrium to assess chronic endometritis in women at risk of recurrent pregnancy loss: A prospective cohort study and rapid review. J Obstet Gynaecol Res. 2020.
28. ^ de Jong PG, Goddijn M, Middeldorp S (2013). "Antithrombotic therapy for pregnancy loss". Human Reproduction Update. 19 (6): 656–73. doi:10.1093/humupd/dmt019. PMID 23766357.
29. ^ Kaandorp SP, Goddijn M, van der Post JA, Hutten BA, Verhoeve HR, Hamulyák K, et al. (April 2010). "Aspirin plus heparin or aspirin alone in women with recurrent miscarriage". The New England Journal of Medicine. 362 (17): 1586–96. doi:10.1056/NEJMoa1000641. PMID 20335572.
30. ^ Wong LF, Porter TF, Scott JR (October 2014). "Immunotherapy for recurrent miscarriage". The Cochrane Database of Systematic Reviews. 10 (10): CD000112. doi:10.1002/14651858.CD000112.pub3. PMC 7051032. PMID 25331518.
31. ^ http://www.noratherapeutics.com
32. ^ Lok, I. H., & Neugebauer, R. (2007). Psychological morbidity following miscarriage. Best Practice & Research Clinical Obstetrics & Gynaecology, 21(2), 229–247.
33. ^ Jeve YB, Davies W (July 2014). "Evidence-based management of recurrent miscarriages". Journal of Human Reproductive Sciences. 7 (3): 159–69. doi:10.4103/0974-1208.142475. PMC 4229790. PMID 25395740.
34. ^ Oliver-Williams CT, Heydon EE, Smith GC, Wood AM (November 2013). "Miscarriage and future maternal cardiovascular disease: a systematic review and meta-analysis". Heart. 99 (22): 1636–44. doi:10.1136/heartjnl-2012-303237. PMC 3812894. PMID 23539554.
35. ^ Braem MG, Onland-Moret NC, Schouten LJ, Kruitwagen RF, Lukanova A, Allen NE, et al. (2012). "Multiple miscarriages are associated with the risk of ovarian cancer: results from the European Prospective Investigation into Cancer and Nutrition". PLOS ONE. 7 (5): e37141. Bibcode:2012PLoSO...737141B. doi:10.1371/journal.pone.0037141. PMC 3356371. PMID 22623987.
36. ^ Kessous R, Shoham-Vardi I, Pariente G, Sergienko R, Holcberg G, Sheiner E (October 2014). "Recurrent pregnancy loss: a risk factor for long-term maternal atherosclerotic morbidity?". American Journal of Obstetrics and Gynecology. 211 (4): 414.e1–11. doi:10.1016/j.ajog.2014.05.050. PMID 24905415.
37. ^ Coleman PK, Reardon DC, Calhoun BC (August 2013). "Reproductive history patterns and long-term mortality rates: a Danish, population-based record linkage study". European Journal of Public Health. 23 (4): 569–74. doi:10.1093/eurpub/cks107. PMID 22954474.
38. ^ Trogstad L, Magnus P, Moffett A, Stoltenberg C (January 2009). "The effect of recurrent miscarriage and infertility on the risk of pre-eclampsia". BJOG. 116 (1): 108–13. doi:10.1111/j.1471-0528.2008.01978.x. PMID 19087081. S2CID 1195813.
## Bibliography[edit]
* Hoffman, Barbara (2012). Williams gynecology. New York: McGraw-Hill Medical. ISBN 9780071716727.
## External links[edit]
Classification
D
* ICD-10: N96
* ICD-9-CM: 629.81
* MeSH: D000026
External resources
* eMedicine: article/260495
* Frequently Asked Questions About Recurrent Pregnancy Loss
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*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
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*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Recurrent miscarriage | c0000809 | 7,203 | wikipedia | https://en.wikipedia.org/wiki/Recurrent_miscarriage | 2021-01-18T18:56:46 | {"mesh": ["D000026"], "icd-9": ["629.9"], "icd-10": ["N96"], "wikidata": ["Q25787"]} |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | c1837073 | 7,204 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85167 | 2021-01-23T17:04:44 | {"gard": ["10647"], "mesh": ["C563825"], "omim": ["608940"], "umls": ["C1837073"], "icd-10": ["Q77.8"], "synonyms": ["SMD-CRD"]} |
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
## Epidemiology
Prevalence is estimated at 1/500,000.
## Clinical description
Symptoms commonly occur after the age of 5 years but are so mild that diagnosis is often not considered until adulthood. Patients are of almost normal height and do not show intellectual deficiency. Corneal opacification occurs progressively and diffusely, usually after the age of four years. Glaucoma is more frequent than in Hurler syndrome (see this term). Patients present with mild coarsening of the facial features, including a large mouth with thick lips. Patients may present with nasal secretion, neurosensorial hearing loss, stiff joints, mild skeletal changes and carpal tunnel syndrome. Aortic valve disease may be present. Compression of the cervical spinal cord, caused by glycosaminoglycan infiltration of the dura, may lead to spastic paresis if not corrected by neurosurgical intervention.
## Etiology
Scheie syndrome is caused by mutations in the IDUA gene (4p16.3) leading to partial deficiency in the alpha-L-iduronidase enzyme and lysosomal accumulation of dermatan sulfate and heparan sulfate.
## Diagnostic methods
Early diagnosis is difficult because the first clinical signs are not specific, but is very important to allow early treatment. Diagnosis is based on detection of increased urinary secretion of heparan and dermatan sulfate through the 1,9-dimethylmethylene blue (DMB) test and glycosaminoglycan (GAG) electrophoresis, and demonstration of enzymatic deficiency in leukocytes or fibroblasts. Genetic testing is available.
## Differential diagnosis
Differential diagnoses include the more severe forms of mucopolysaccharidosis type 1, Hurler-Scheie syndrome and Hurler syndrome, and mucopolysaccharidosis type VI and mucopolysaccharidosis type II (see these terms).
## Antenatal diagnosis
Antenatal diagnosis is possible by measurement of enzymatic activity in cultivated chorionic villus or amniocytes and by genetic testing if the disease-causing mutation is known.
## Genetic counseling
Transmission is autosomal recessive. Genetic counseling is recommended.
## Management and treatment
Management should be carried out by a multidisciplinary team and should include physiotherapy to maintain range of movement. The enzyme substitute (laronidase) obtained EU marketing authorization as an orphan drug in 2003. Given through weekly infusions it leads to improvement of lung function and joint mobility. Enzyme replacement therapy (ERT) should be started at diagnosis and may be beneficial in patients awaiting hematopoietic stem cell transplantation (HSCT). Early treatment slows the progression of the disease.
## Prognosis
Life expectancy for patients with Scheie syndrome may only be slightly affected.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Scheie syndrome | c0026708 | 7,205 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93474 | 2021-01-23T17:24:43 | {"gard": ["12561"], "mesh": ["D008059"], "omim": ["607016"], "icd-10": ["E76.0"], "synonyms": ["MPS1S", "MPSIS", "Mucopolysaccharidosis type 1S", "Mucopolysaccharidosis type IS"]} |
Genital trauma is trauma to the genitalia.
## Contents
* 1 History of studying genital trauma
* 2 Vaginal trauma from consensual and non-consensual intercourse
* 2.1 Why does vaginal trauma occur?
* 2.2 Types of vaginal trauma
* 2.3 Treatment of vaginal trauma
* 3 Vulvar trauma
* 4 Vaginal trauma
* 5 Penile trauma
* 6 Testicular trauma
* 7 See also
* 8 References
## History of studying genital trauma[edit]
Doctors and nurses have been conducting sexual assault examinations and have been collecting evidence for victims of assault for 20 years. But the amount of scientific data collected on genital injuries post-sexual assault are still minimal. Therefore, there is no available evidence to show specific patterns of injury resulting from sexual assault.[1] The motivation for investigating and collecting data on genital injuries has primarily been within the context of the legal system, such as proving or disproving sexual assault, rather than for medical purposes. The studies that have been done in the past 25 years in relation to sexual assault cases in the judicial system has laid the groundwork for interpreting sexual assault injuries. It is important for there to research on genital injuries more broadly relating to sexual activity (and not just sexual assault) to improve medical knowledge on the subject.[1] Methods of studying and documenting genital injury has greatly improved through the use of tissue staining dyes and colposcopy. The first studies that used newer methods were retrospective chart reviews done in a hospital by a doctor or nurse. These studies used several different methods to identify and document injuries, such as direct visualization, colposcopy, and/or tissue staining dyes. Earlier studies only used direct visualization for their data.[1]
## Vaginal trauma from consensual and non-consensual intercourse[edit]
Vaginal trauma is possible during and after consensual and non-consensual intercourse so it is difficult to determine the circumstances in which the trauma occurs only based on a physical examination. It can be difficult to differentiate between injuries from consensual sex and injuries from sexual assault in adolescents.[2] Women are three times more likely to have vaginal injuries and intercourse-related injuries from a forced assault than from a consensual sexual experience.[3] Vaginal lacerations that happen during consensual or non consensual intercourse might need surgery, but victims of a forced assault will need additional services such as police intervention and trauma counseling.[2] There is little research on minor injuries in adult, pre-menopausal women, adolescent girls, and post-menopausal women that do not require surgery or treatment.[4]
### Why does vaginal trauma occur?[edit]
There are factors that can predispose women to vaginal injury during consensual sex. These things include: first sexual experience, pregnancy, vigorous penetration, vaginal atrophy and spasm, previous operation or radiation therapy, disproportionate genitalia, penile ornamentation, and congenital anomalies.[5] During vaginal intercourse in the missionary position with legs tilted all the way back, the penis reaches its deepest penetration and the extreme rotation of the uterus leads to hyper distention of the vaginal wall, which in some cases can cause it to rupture. This position is the most likely position for vaginal laceration. The vaginal wall on the right side is the most commonly torn sight in this position.[3] Vaginal lengthening and lubrication usually occurs naturally in a consensual sexual situation. Vaginal tearing can occur in rape victims because those two things will not occur. This is consistent with the fact that more injuries result from sexual assault than from consensual intercourse.[3] An inability to produce adequate vaginal lubrication and dilatation is thought to be an underlying cause of severe tears in the upper area of the vagina.[2]
### Types of vaginal trauma[edit]
Intercourse-related lacerations can range from superficial tears to more severe lacerations, tears rarely extend into the rectal lumen and the peritoneal cavity. Recto-vaginal injuries are usually a result of assault with a foreign object, rape, or accidental gynecologic injury. Injuries of this severity that resulted from consensual sex are very rare.[5] Posterior and right vaginal fornix lacerations have been known to occur during consensual vaginal intercourse. The location of these lacerations is usually based on a woman's reproductive anatomy. It is common for women to have a uterus that lies slightly to the right, this exposes the right fornix and makes it easier for some type of tearing or trauma to occur.[2] Lacerations to the posterior peri-cervical vagina tend to occur in the missionary position, hips and legs hyperflexed. Other positions can also expose the posterior vaginal wall that usually protected by the cervix, this allows for posterior fornix tears. Tears in the upper area of the vagina are more often reported in consensual intercourse than forced intercourse. Complications from severe vaginal lacerations, such as from an assault, can include hemoperitoneum, pneumoperitoneum, and retroperitoneal hematoma with or without vaginal perforation. Tears along the long axis of the vagina or the posterior fourchette lacerations are more likely to occur from rape. Lacerations or tears of the hymen are common but are not indicative of consensual or non-consensual intercourse.[2]
### Treatment of vaginal trauma[edit]
Diagnosing and treating vaginal trauma can often be difficult and delayed due to the sensitive and personal nature of these types of injuries; this also may be enhanced if the patient is young in age.[2] The repair of most genital injuries require suture and the bleeding from the area is usually minimal.[3] The bleeding that results from extreme vaginal tears can be copious, leading to hemorrhagic shock, and the patient may need a blood transfusion. Treatment of these lacerations could warrant surgical repair.[2]
## Vulvar trauma[edit]
Vulvar trauma is more common in prepubertal children due to small labial fat pads and more physical activity. Adults are more protected. Though some injuries are serious, most are accidental minor blunt traumas. The most common type of injury is a straddle injury, which can be incurred through normal activities like bicycle riding. Due to the vascularity of the vulva, it may form a large hematoma when injured. The vulva can also be injured through sexual assault. Vulvar trauma can occur concurrently with vaginal trauma, especially if a sharp object is involved.[6]
## Vaginal trauma[edit]
Main article: Vaginal trauma
Vaginal trauma can occur when something is inserted into the vagina, for example, a sharp object, causing penetrating trauma.[6] Vaginal trauma can occur as a result as an initial painful sexual experience or sexual abuse.[7] Vaginal trauma can occur in children as a result of a straddle injury. Most of these, though distressing, are not serious injuries. In some instances a severe injury occurs and requires immediate medical attention especially if the bleeding won't stop.[8][9] Vaginal trauma occurs during an episiotomy.[10]
## Penile trauma[edit]
Main article: Penile injury
Penile trauma can take several forms. Abrasions can be caused by a zipper injury, and fractures can be caused by sexual activity.[11] One type of penile trauma is penile amputation. Penile amputation is a rare injury and is considered an emergency urological condition. Some of the reasons this may occur are self-mutilation with psychiatric disturbances, sexual need, accidents, iatrogenic injuries, or revenge and marriage breakdown. Since this is a rare injury there is no standardized method to treat this. Micro-surgical repair seems to be the most effective method to achieve a return of sensation and erectile function.[12]
## Testicular trauma[edit]
Main article: Testicular trauma
Testicular trauma is an injury to one or both testicles. Types of injuries include blunt, penetrating and degloving. The testes are located within the scrotum, which hangs outside of the body, and do not have the protection of muscles and bones. This makes it easier for the testes to be struck, hit, kicked or crushed, which occurs most often during contact sports. Testicles can be protected by wearing athletic cups during sports. Trauma to the testes can cause severe pain, bruising, swelling, and/or in severe cases even infertility. In most cases, the testes—which are made of a spongy material—can absorb some impact without serious damage.
## See also[edit]
* Groin attack
* Penile fracture
* Testicular rupture
## References[edit]
1. ^ a b c Anderson, Sarah; McClain, Natalie; Riviello, Ralph J. (2008-06-28). "Genital Findings of Women After Consensual and Nonconsensual Intercourse". Journal of Forensic Nursing. 2 (2): 59–65. doi:10.1111/j.1939-3938.2006.tb00060.x. ISSN 1556-3693. PMID 17073065.
2. ^ a b c d e f g Frioux, Sarah M.; Blinman, Thane; Christian, Cindy W. (January 2011). "Vaginal lacerations from consensual intercourse in adolescents". Child Abuse & Neglect. 35 (1): 69–73. doi:10.1016/j.chiabu.2010.08.006. ISSN 0145-2134.
3. ^ a b c d Uğurel, Vedat; Özer, Dilek Pınar; Varol, Füsun (May 2014). "A Rare Case of Rectovaginal Fistula Following Consensual Vaginal Intercourse". The Journal of Sexual Medicine. 11 (5): 1345–1348. doi:10.1111/jsm.12472. ISSN 1743-6095.
4. ^ Schmidt Astrup, Birgitte; Lykkebo, Annemette Wildfang (2014-10-23). "Post-coital genital injury in healthy women: A review". Clinical Anatomy. 28 (3): 331–338. doi:10.1002/ca.22476. ISSN 0897-3806.
5. ^ a b Symeonidis, Nikolaos; Ballas, Konstantinos; Micha, Aikaterini; Psarras, Kyriakos; Pavlidis, Theodoros (February 2015). "Consensual Intercourse Resulting in an Extensive Rectovaginal Tear: An Extremely Rare Occurrence". The Journal of Sexual Medicine. 12 (2): 572–575. doi:10.1111/jsm.12754. ISSN 1743-6095.
6. ^ a b Hoffman, Barbara L. (2011). Williams Gynecology (2nd ed.). New York: McGraw-Hill Medical. ISBN 9780071716727.
7. ^ "Vagina: What's normal, what's not". Mayo Clinic. Retrieved 2018-02-10.
8. ^ "Vaginal Trauma: You Fell On What? | Texas Children's Hospital". www.texaschildrens.org. Retrieved 2018-02-10.
9. ^ "Genital Injury - Female". www.seattlechildrens.org. Retrieved 2018-02-10.
10. ^ Albers, L.; Borders, N. (2007). "Minimizing Genital Tract Trauma and Related Pain Following Spontaneous Vaginal Birth". Journal of Midwifery & Women's Health. 52 (3): 246–253. doi:10.1016/j.jmwh.2006.12.008. PMID 17467591. Retrieved 2018-02-10.
11. ^ Greenberg's Text-Atlas of Emergency Medicine. Lippincott Williams & Wilkins. 22 November 2004. p. 318. ISBN 978-0-7817-4586-4. Retrieved 15 October 2012.
12. ^ Yang, Kunlin; Liu, Yu; Wang, Wei; Xiao, Yunxiang; Li, Xuesong; Zhou, Liqun (January 2020). "Successful penile replantation after macroscopic repair using vein blood-letting therapy". Urology Case Reports. 28: 101069. doi:10.1016/j.eucr.2019.101069. ISSN 2214-4420. PMC 6864311. PMID 31763173.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Genital trauma | c0560637 | 7,206 | wikipedia | https://en.wikipedia.org/wiki/Genital_trauma | 2021-01-18T18:31:38 | {"umls": ["C0560637"], "wikidata": ["Q25111475"]} |
Wagner's disease
Other namesWagner’s hyaloid retinal degeneration, Wagner’s vitreoretinal degeneration, Wagner syndrome
Wagner's disease is inherited in an autosomal dominant manner
Wagner's disease is a familial disease of the eye that can cause reduced visual acuity.[1] Wagner's disease was originally described in 1938. This disorder was frequently confused with Stickler syndrome, but lacks the systemic features and high incidence of retinal detachments. Inheritance is autosomal dominant.
## Contents
* 1 Genetics
* 2 Diagnosis
* 3 Treatment
* 4 History
* 5 References
* 6 External links
## Genetics[edit]
Wagner's syndrome has for a long time been considered a synonym for Stickler's syndrome. However, since the gene that is responsible for Wagner disease (and Erosive Vitreoretinopathie) is known (2005), the confusion has ended. For Wagner disease is the Versican gene (VCAN) located at 5q14.3 is responsible.
For Stickler there are 4 genes are known to cause this syndrome: COL2A1 (75% of Stickler cases), COL11A1 (also Marshall syndrome), COL11A2 (non-ocular Stickler) and COL9A1 (recessive Stickler).
The gene involved helps regulate how the body makes collagen, a sort of chemical glue that holds tissues together in many parts of the body. This particular collagen gene only becomes active in the jelly-like material that fills the eyeball; in Wagner's disease this "vitreous" jelly grabs too tightly to the already weak retina and pulls it away.
## Diagnosis[edit]
Diagnosis is based on fundus examination that reveals an empty vitreous with vitreoretinal degeneration in similar picture to stickler's syndrome but with no systemic associations.
## Treatment[edit]
Most people with the disease need laser repairs to the retina, and about 60 per cent need further surgery.
## History[edit]
In 1938 Hans Wagner described 13 members of a Canton of Zurich family with a peculiar lesion of the vitreous and retina. Ten additional affected members were observed by Boehringer et al.. in 1960 and 5 more by Ricci in 1961. In the Netherlands Jansen in 1962 described 2 families with a total of 39 affected persons. Both families had only ocular features. Alexander and Shea in 1965 reported a family. In the last report, characteristic facies (epicanthus, broad sunken nasal bridge, receding chin) was noted. Genu valgum was present in all. In addition to typical changes in the vitreous, retinal detachment occurs in some and cataract is another complication.
## References[edit]
1. ^ "Wagner syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-10-01.
## External links[edit]
Classification
D
* ICD-10: H35.5
* OMIM: 143200
* MeSH: C536075 C536075, C536075
External resources
* Orphanet: 898
* GeneReviews entry on VCAN-Related Vitreoretinopathy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Wagner's disease | c1840452 | 7,207 | wikipedia | https://en.wikipedia.org/wiki/Wagner%27s_disease | 2021-01-18T18:49:02 | {"gard": ["7871"], "mesh": ["C536075"], "umls": ["C0339540", "C1840452"], "icd-10": ["H35.5"], "orphanet": ["898"], "wikidata": ["Q2470609"]} |
Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH, see this term), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations (see this term) with left to right cardiac shunts. Eisenmenger syndrome (see this term) is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Pulmonary arterial hypertension associated with congenital heart disease | c3697119 | 7,208 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=275803 | 2021-01-23T18:10:20 | {"icd-10": ["I27.2"], "synonyms": ["PAH associated with congenital heart disease"]} |
Intrauterine epidermal necrosis
SpecialtyDermatology
Intrauterine epidermal necrosis is a cutaneous condition that is rapidly fatal, characterized by skin erosions and ulcerations only.[1]
## See also[edit]
* Congenital erosive and vesicular dermatosis
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Intrauterine epidermal necrosis | None | 7,209 | wikipedia | https://en.wikipedia.org/wiki/Intrauterine_epidermal_necrosis | 2021-01-18T18:38:46 | {"wikidata": ["Q16902909"]} |
A number sign (#) is used with this entry because of evidence that this form of neurodegeneration with brain iron accumulation (NBIA), here designated 'NBIA3,' is caused by heterozygous mutation in the FTL gene (134790) on chromosome 19q13. See NOMENCLATURE section.
For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).
Description
Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, cognitive involvement, and mode of inheritance is variable (review by Gregory et al., 2009).
Clinical Features
Curtis et al. (2001) described a dominantly inherited late-onset basal ganglia disease variably presenting with extrapyramidal features similar to those of Huntington disease (143100) or parkinsonism. The disorder typically presented with involuntary movements at 40 to 55 years of age. Symptoms of extrapyramidal dysfunction included choreoathetosis, dystonia, spasticity, and rigidity, sometimes showing acute progression but not associated with significant cognitive decline or cerebellar involvement. MRI scan showed cavitation of the basal ganglia confirmed by brain pathology. Surviving affected family members lived within a 40-km radius of the home of the earliest founder that was traced (from records circa 1790), a member of a local family from the Cumbrian region of northern England. Patients had low serum ferritin levels and abnormal aggregates of ferritin and iron in the brain. Curtis et al. (2001) noted that iron deposition in the brain increases normally with age, especially in the basal ganglia, and is a suspected causative factor in several neurodegenerative diseases in which it correlates with visible pathology, possibly by its involvement in toxic free-radical reactions. Known neurologic disorders were excluded by routine diagnostic tests.
Chinnery et al. (2003) reported a French family in which 7 members developed dystonia between the ages of 24 and 58 years of age. Inheritance was autosomal dominant. Additional clinical features included dysarthria, chorea, parkinsonism, blepharospasm, and cerebellar signs. Two affected members had a frontal lobe syndrome, and 1 had dementia. MRI of 3 affected family members showed cystic changes in the basal ganglia. Skeletal muscle biopsy from 4 patients showed abnormalities of the mitochondrial respiratory chain. Devos et al. (2009) provided further information on 4 of the affected members from the French family reported by Chinnery et al. (2003). These patients developed symptoms between 24 and 44 years of age. Presenting features included dystonia, causing writing difficulties or a gait disorder, followed by rapid progression to orofacial, pharyngeal, and laryngeal dystonia. L-DOPA was not effective. None developed spasticity, abnormal reflexes, or marked tremor. Three deceased family members developed cerebellar ataxia. All developed a moderate subcortical/frontal dementia. Other atypical features included a limitation of vertical eye movements and mild dysautonomia, including orthostatic hypotension, constipation, and urinary incontinence. Brain imaging showed iron deposition and cystic cavitation of the basal ganglia. Serum ferritin levels were decreased.
Vidal et al. (2004) reported a large 5-generation French family in which 11 members had neuroferritinopathy inherited in an autosomal dominant pattern. Six affected family members were living at the time of the report. The proband first developed tremor at age 20 years. Thereafter, she had a progressive neurologic decline, characterized by frontal and subcortical cognitive impairment and involuntary movements in her mid-fifties, and pyramidal signs in her late fifties. She had dyskinesias, rigidity, hypertonicity, buccolingual dyskinesia, and dystonic posturing of the hands and feet. She became wheelchair-bound, was unable to feed herself, and died in a comatose state. Neuropathologic examination showed cerebellar and cerebral atrophy, cavitation of the putamen, and widespread ferritin inclusions in neurons and glia throughout the brain. Ferritin inclusions were also seen in extraneural tissue, including skin, muscle, and kidney. Serum ferritin was not measured. Vidal et al. (2004) noted the earlier age at onset in this family compared to the family reported by Curtis et al. (2001), as well as the prominent tremor and cognitive decline in the French family.
Maciel et al. (2005) reported a 19-year-old man with parkinsonism, ataxia, and corticospinal signs consistent with neuroferritinopathy. Genetic analysis detected a mutation in the FTL gene (A96T; 134790.0013) in the patient, his asymptomatic mother, and his asymptomatic 13-year-old brother. MRI showed bilateral pallidal necrosis in the patient and his mother, and all 3 mutation carriers had decreased serum ferritin. The patient also had mild nonprogressive cognitive deficit and episodic psychosis, which may have been unrelated since a noncarrying uncle had schizophrenia.
Chinnery et al. (2007) reported the clinical features of 41 individuals with neuroferritinopathy due to a 460insA mutation in the FTL gene (134790.0010). The mean age of onset was 39.4 years (range, 13-63), presenting with chorea in 50%, focal lower limb dystonia in 42.5%, and parkinsonism in 7.5%. Other variable features included writer's cramp, blepharospasm, and palatal tremor. The disease showed progression over 5 to 10 years, resulting in a generalized disorder with severe asymmetric motor disability and dystonia, dysphagia, and aphonia, although most remained ambulatory. None developed overt spasticity, ophthalmologic changes, or seizures. The majority of patients had normal psychometric profiles and no cognitive dysfunction except for defects in verbal fluency, even after 10 years. Two patients had evidence of a frontal/subcortical dementia after 10 years, but 1 had normal cognition 36 years after onset. Overall, however, many had subtle features of disinhibition and emotional lability. Five of 6 studied had mitochondrial chain respiratory defects in skeletal muscle biopsies. Laboratory studies showed low levels in most males and postmenopausal females, but normal levels in premenopausal females. Brain imaging showed iron deposition predominantly in the basal ganglia in all affected individuals and in 1 presymptomatic carrier. Some with advanced disease showed cystic degenerative changes. The majority of patients reported a family history of a movement disorder, which was often misdiagnosed as Huntington disease, and admission to a psychiatric institution. Treatment with iron depletion therapy did not provide any benefit, at least in the short term. Chinnery et al. (2007) concluded that isolated parkinsonism is unusual in neuroferritinopathy, and that cognitive changes are absent or subtle in the early stages. Devos et al. (2009) noted that 3 French patients reported by Chinnery et al. (2007) were found to carry a different mutation in the FTL gene (458dupA; 134790.0016).
Ohta et al. (2008) reported a Japanese mother and son with neuroferritinopathy confirmed by genetic analysis (134790.0015). The son developed hand tremors in his mid-teens and foot dragging at age 35. By age 42, he had generalized hypotonia, hyperextensibility, unsteady gait, aphonia, micrographia, hyperreflexia, and cognitive impairment. Rigidity, spasticity, dystonia, and chorea were not observed. His mother had hand tremors at age 10, difficulty walking at age 35, developed cognitive impairment and akinetic mutism, and died at age 64. Brain imaging in both patients showed symmetric cystic changes in the basal ganglia. The son had hyperintense lesions in the basal ganglia and substantia nigra on MRI. Ohta et al. (2008) suggested that the mutant FTL protein was unable to retain iron, which was released in the nervous system, causing oxidative damage.
Keogh et al. (2012) found that 3 asymptomatic descendants of known FTL mutation carriers who themselves were carriers of a mutation (460insA; 134790.0010) had evidence of iron deposition on brain imaging. In each case, the signal abnormalities were visible on T2*-weighted MRI. The abnormalities increased with age: 1 patient between 6 and 16 years had involvement of the substantia nigra, globus pallidus, and motor cortex; a patient between 17 and 25 years had additional involvement of the red nucleus and thalamus, but not the motor cortex; and the third patient, between 26 and 36 years, had additional involvement of the caudate. The findings indicated that iron deposition in neuroferritinopathy can begin decades before symptomatic presentation, and suggested that iron deposition initiates neurodegeneration.
Mapping
In a family with adult-onset basal ganglia disease, Curtis et al. (2001) found linkage to a 3.5-cM region between D19S596 and D19S866 (maximum multipoint lod score of 6.38 for HRC.PCR3).
Molecular Genetics
In an individual with adult-onset basal ganglia disease and in 5 apparently unrelated subjects with similar extrapyramidal symptoms, Curtis et al. (2001) identified an insertion mutation in the FTL gene (134790.0010). Curtis et al. (2001) proposed a dominant-negative or dominant gain-of-function effect rather than haploinsufficiency. An abnormality in ferritin strongly indicated a primary function for iron in the pathogenesis of this disease, for which they proposed the name 'neuroferritinopathy.'
In affected members of a French family with neuroferritinopathy reported by Chinnery et al. (2003), Devos et al. (2009) identified a mutation in the FTL gene (458dupA; 134790.0016). The family had originally been thought to have a different mutation (134790.0010) (Chinnery et al., 2003).
Vidal et al. (2004) identified a mutation in the FTL gene (498insTC; 134790.0014) in affected members of a French family with neuroferritinopathy.
In a healthy 52-year-old woman who was a control subject in a genetic study of hyperferritinemia-cataract syndrome, Cremonesi et al. (2004) identified a heterozygous mutation in the ATG start codon of the FTL gene (M1V; 134790.0018), predicted to disable protein translation and expression. She had no history of iron deficiency anemia or neurologic dysfunction. Hematologic examination was normal except for decreased serum L-ferritin (615604). The findings suggested that L-ferritin has no effect on systemic iron metabolism. The report also indicated that neuroferritinopathy is not a consequence of haploinsufficiency of L-ferritin, but likely results from gain-of-function mutations in the FTL gene.
Population Genetics
In a nationwide survey of Japanese patients, Hirayama et al. (1994) estimated the prevalence of all forms of spinocerebellar degeneration to be 4.53 per 100,000. Of these, 1.5% were thought to have striatonigral degeneration, defined by the authors as a sporadic disorder with onset after middle age with mainly parkinsonian signs and occasionally accompanied by cerebellar ataxia, autonomic disturbance, and cerebellar atrophy on scanning.
Nomenclature
Although some (see, e.g., Chinnery et al., 2007) have referred to neuroferritinopathy due to FTL mutations as 'neurodegeneration with brain iron accumulation-2 (NBIA2),' this disorder in OMIM is designated 'NBIA3.' The designation 'NBIA2' is reserved for disorders caused by mutation in the PLA2G6 gene (603604) on chromosome 22q13 (see NBIA2A, 256600 and NBIA2B, 610217).
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Orolingual dyskinesia \- Orofacial dystonia \- Oromandibular dyskinesia \- Hypomimia Eyes \- Blepharospasm Mouth \- Palatal tremor RESPIRATORY \- Pharyngeal dystonia Larynx \- Laryngeal dystonia ABDOMEN Gastrointestinal \- Dysphagia SKELETAL Hands \- Writer's cramp \- Micrographia NEUROLOGIC Central Nervous System \- Involuntary movements, asymmetric \- Gait disability \- Parkinsonism \- Bradykinesia \- Tremor \- Extrapyramidal signs \- Choreoathetosis \- Dystonia, focal \- Dysarthria \- Anarthria \- Mutism \- Dysphonia \- Spasticity (less common) \- Hyperreflexia \- Extensor plantar responses \- Rigidity \- Cerebellar ataxia \- Cerebellar signs \- Cognitive defects develop later in the disease \- Frontotemporal/subcortical dementia \- Autonomic features may occur \- Neuroaxonal spheroids \- MRI imaging shows cavitation of the basal ganglia \- Brain tissue shows cavitation of the basal ganglia \- Brain tissue shows abnormal spherical aggregates of iron and ferritin in the basal ganglia, forebrain, and cerebellum Behavioral Psychiatric Manifestations \- Disinhibition \- Emotional lability LABORATORY ABNORMALITIES \- Decreased serum ferritin MISCELLANEOUS \- Onset 13 to 63 years of age \- Progressive disorder \- Variable phenotype MOLECULAR BASIS \- Caused by mutation in the ferritin light-chain gene (FTL, 134790.0010 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 | c1853578 | 7,210 | omim | https://www.omim.org/entry/606159 | 2019-09-22T16:10:40 | {"doid": ["0110737"], "mesh": ["C548080"], "omim": ["606159"], "orphanet": ["157846"], "synonyms": ["Alternative titles", "NEUROFERRITINOPATHY", "BASAL GANGLIA DISEASE, ADULT-ONSET"], "genereviews": ["NBK1141"]} |
A pool party
"Wetlook" describes the appearance of fabric which is shiny and thus appears to be wet.[citation needed] It may also describe the act of getting wet while wearing clothes, and enjoyment of doing so or of watching others do so,[1] as a form of sexual excitement.
## Contents
* 1 As sexual stimuli
* 2 Fashion and pop
* 3 Classical prototypes
* 4 See also
* 5 References
* 6 Further reading
* 7 External links
## As sexual stimuli[edit]
Alex Comfort suggested that wetlook clothing functions as a kind of superskin, enhancing the visual and tactile qualities of shininess and tightness.[2] He offered the 1970s-style advice that if your lover “likes you to look like a cross between a snake and a seal, wear what he gives you.[3]
For Desmond Morris, water on the skin is seen as mimicking the sweat of sexual arousal.[4]
## Fashion and pop[edit]
The 1960s success of the Merseybeat saw wetlook pvc coats coming down from Liverpool to enter the London fashion scene.[5] A few decades later, a pop Ladette might feel ambivalent to find herself posing in a pvc catsuit.[6]
## Classical prototypes[edit]
* New Kingdom of Egypt poetry has a girl telling her lover: “It is pleasant to go to the pool...That I may let you see my beauty in my tunic of finest royal linen When it is wet”.[7]
* Foam-born Aphrodite rising from the waves - Aphrodite Anadyomene – initiated a long sequence of similar wetlook images.[8]
## See also[edit]
* Aquaphilia (fetish)
* Salirophilia
* Spandex
* Wet and messy fetishism
* Wet sari scene
* Wet T-shirt contest
## References[edit]
1. ^ Börstling, Robert (2000-07-01). "Wetlook paraphilia - aspects of a sexual variation". Humboldt University of Berlin Magnus Hirschfeld Archive for Sexology. Retrieved 2008-12-11.
2. ^ A Comfort, The Joy of Sex (London 1972) p. 21-2
3. ^ A Comfort, The Joy of Sex (London 1972) p. 23
4. ^ D Morris, The Naked Ape Trilogy (London 1988) p. p. 377
5. ^ P Norman, Shout (2011) p. 203
6. ^ L Wener, Different for Girls (2010) p. 267
7. ^ Quoted in L Cottrell, Queens of the Pharaohs (London 1966) p. 75
8. ^ F Guirand ed., New Larouse Encyclopedia of Mythology (London 1068) p. 130
## Further reading[edit]
* Alex Comfort and Susan Quilliam (2008). The New Joy of Sex. Mitchell Beazley. ISBN 9781845334291. See the "Clothes" and "Wet look" entries.
## External links[edit]
* Media related to Wetlook at Wikimedia Commons
This article may be expanded with text translated from the corresponding article in French. (May 2013) Click [show] for important translation instructions.
* View a machine-translated version of the French article.
* Machine translation like DeepL or Google Translate is a useful starting point for translations, but translators must revise errors as necessary and confirm that the translation is accurate, rather than simply copy-pasting machine-translated text into the English Wikipedia.
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This sexuality-related article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Wetlook | None | 7,211 | wikipedia | https://en.wikipedia.org/wiki/Wetlook | 2021-01-18T18:44:51 | {"wikidata": ["Q1890008"]} |
In the large kindred reported by Edwards and Gale (1972) brachydactyly involved the hands and the feet in combination with congenital flexion contractures of the fingers. Syndactyly, polydactyly, septate vagina and urinary incontinence were present in some. Two severely affected children of affected first cousins were thought to be homozygotes.
Limbs \- Brachydactyly of hands and feet \- Congenital finger flexion contractures \- Syndactyly \- Polydactyly GU \- Septate vagina \- Urinary incontinence Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| CAMPTOBRACHYDACTYLY | c1861963 | 7,212 | omim | https://www.omim.org/entry/114150 | 2019-09-22T16:43:52 | {"mesh": ["C537967"], "omim": ["114150"], "orphanet": ["1319"]} |
A laryngeal cleft is a rare malformation involving the larynx (known as the voice box) and the esophagus (known as the food pipe). Normally, when the larynx develops, it is completely separate from the esophagus so that swallowed foods travel directly through the esophagus into the stomach. A laryngeal cleft occurs when these structures do not develop normally in an embryo, and there is an opening connecting the larynx (and sometimes trachea) and the esophagus. This enables food and liquid that is swallowed to pass through the opening to the larynx, and into the lungs. Signs and symptoms may appear in the first few months of life and may include feeding problems, trouble swallowing, failure to thrive, reflux, coughing, wheezing, stridor, aspiration, respiratory distress, and recurrent lung infections. There are several different types of laryngeal clefts (types I through IV), which are classified based on the specific location and extent (severity) of the cleft.
A cleft can occur as an isolated abnormality, as part of an underlying syndrome or condition (such as Opitz-Frias, VACTERL, Pallister-Hall, CHARGE), or with other associated malformations. Treatment depends on the location and severity of the cleft and symptoms. For example, small clefts can sometimes be managed with medications to control symptoms such as reflux or aspiration, while some smaller clefts and larger clefts may need to be treated with endoscopic procedures or surgery.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Laryngeal cleft | c1859083 | 7,213 | gard | https://rarediseases.info.nih.gov/diseases/3188/laryngeal-cleft | 2021-01-18T17:59:31 | {"mesh": ["C537851"], "omim": ["215800"], "orphanet": ["2004"], "synonyms": ["LC", "Laryngotracheoesophageal cleft", "Anterior submucous laryngeal cleft (subtype)", "Laryngo-tracheo-esophageal diastema", "Laryngotracheal cleft", "Laryngo-tracheo-esophageal cleft", "LTEC", "Posterior laryngeal cleft (PLC)"]} |
JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood.
## Frequency
JAK3-deficient SCID accounts for an estimated 7 to 14 percent of cases of SCID. The prevalence of SCID from all genetic causes combined is approximately 1 in 50,000, although it may be higher in certain regions.
## Causes
JAK3-deficient SCID is caused by mutations in the JAK3 gene. The protein produced from this gene helps regulate the growth and maturation of certain types of white blood cells (lymphocytes) called T cells and natural killer cells. In addition, the JAK3 protein is important for the normal maturation of another type of lymphocyte called B cells. T cells, B cells, and natural killer cells attack bacteria, viruses, and fungi, and help regulate the entire immune system.
Mutations in the JAK3 gene prevent the production of JAK3 protein or lead to production of a nonfunctional protein. A loss of functional JAK3 protein results in the absence of T cells and natural killer cells and a normal number of poorly functioning B cells. This shortage of functional lymphocytes causes people with JAK3-deficient SCID to be susceptible to infections.
### Learn more about the gene associated with JAK3-deficient severe combined immunodeficiency
* JAK3
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| JAK3-deficient severe combined immunodeficiency | c1833275 | 7,214 | medlineplus | https://medlineplus.gov/genetics/condition/jak3-deficient-severe-combined-immunodeficiency/ | 2021-01-27T08:25:29 | {"gard": ["7628"], "mesh": ["C563440"], "omim": ["600802"], "synonyms": []} |
A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Autosomal dominant progressive nephropathy with hypertension | c0403443 | 7,215 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88659 | 2021-01-23T17:04:22 | {"mesh": ["C562889"], "omim": ["161900"], "icd-10": ["I15.1"]} |
An ovarian sex cord tumor with annular tubules (SCTAT) is a tumor that grows from cells in the ovaries known as sex cord cells. As these cells grow, they form tube-like shapes in the tumor. SCTATs can develop in one or both ovaries, and may cause symptoms such as puberty at an exceptionally young age (precocious puberty), irregular menstrual cycles, or post-menopausal bleeding. Most ovarian SCTATs are benign. However, because there is a chance that an SCTAT may be malignant, treatment may include surgery to remove the tumor.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Ovarian sex cord tumor with annular tubules | c1519276 | 7,216 | gard | https://rarediseases.info.nih.gov/diseases/12285/ovarian-sex-cord-tumor-with-annular-tubules | 2021-01-18T17:58:29 | {"synonyms": ["Ovarian sex cord-stromal tumor"]} |
Parkes Weber syndrome
Parkes Weber syndrome is inherited in an autosomal dominant manner.
SpecialtyMedical genetics
Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare condition, and its exact prevalence is unknown.[1][2][3] It is named after British dermatologist Frederick Parkes Weber, who first described the syndrome in 1907.[4]
In the body, the vascular system consists of arteries, veins and capillaries. When abnormalities such as vascular malformation, capillary arteriovenous malformations (AVMs), arteriovenous fistulas (AVFs) and overgrowth of a limb occur together in combination and disturb the complex network of blood vessels of the vascular system, it is known as PWS.[5] The capillary malformations and AVFs are known to be present from the birth. In some cases, PWS is a genetic condition where the RASA1 gene is mutated and displays an autosomal dominant inheritance pattern.[6] If PWS is genetic then most patients show multiple capillary malformations. Patients who do not have multiple capillary malformations most likely did not inherit PWS and do not have RASA1 mutations. In such cases, the cause of PWS is often unknown and is sporadic as most cases often are.
PWS is often confused with Klippel–Trénaunay syndrome (KTS). These two diseases are similar, but they are distinct. PWS occurs because of vascular malformation that may or may not be because of genetic mutations, whereas Klippel-Trénaunay syndrome is a condition in which blood vessels and or lymph vessels do not form properly.[7] PWS and KTS almost have the same symptoms, except PWS patients are seen with both AVMs and AVFs occurring with limb hypertrophy.
## Contents
* 1 Symptoms
* 2 Causes
* 3 Mechanism
* 4 Diagnosis
* 4.1 Differential diagnosis
* 5 Prevention
* 6 Treatment
* 7 Prognosis
* 8 Recent research
* 9 See also
* 10 References
* 11 Further reading
* 12 External links
## Symptoms[edit]
Major symptoms of PWS include:
Birthmarks: Affected PWS patients suffer from large, flat, pink staining on the skin. This staining is a result of the capillary malformations that have the tendency to increase the blood flow near the surface of the skin causing the staining. Because of the staining color they are sometimes referred to as "port-wine stains". "Port-wine stain" or discoloration of the skin due to vascular malformation is also referred as nevus flammeus.[5][8]
Hypertrophy: Hypertrophy refers to excessive growth of the bone and soft tissue. In PWS patients a limb is overgrown and hypertrophy is usually seen in the affected limb.[5]
Bulging Veins
Multiple arteriovenous fistulas: PWS patients also suffer from multiple AVFs that occur in conjunction with capillary malformations. AVFs occur because of abnormal connections between arteries and veins.[5] Normally, blood flows from arteries to capillaries then to veins. But for AVF patients, because of the abnormal artery and vein connections, blood flows directly from arteries into the veins completely bypassing the capillaries.[9] These irregular connections affect the blood circulation and may lead to life-threatening complications such as abnormal bleeding and heart failure. AVFs can be identified by: large, purplish bulging veins, swelling in limbs, decreased in blood pressure, fatigue and heart failure.[9]
Capillary arteriovenous malformations: Vascular system disorder is the cause of the capillary malformations. Here, the capillaries are enlarged and increase the blood flow towards the surface of the skin.[10] Because of the capillary malformations, the skin has multiple small, round, pink or even red dots.[10] For most of the affected individuals, these malformations occur on the face, arms and or legs. The spots may be visible right from birth itself or they may develop during childhood years.[10] If capillary malformations occur by themselves, it is not a huge threat to life. But when these occur in conjunction with AVFs then it is a clear indicator of PWS and may be serious depending on the severity of the malformations.[10]
The Human Phenotype Ontology (HPO) reports of additional symptoms in PWS patients. HPO is an active database that collects and researches on the relationships between phenotypic abnormalities and biochemical networks.[11] This is a useful database as it has information and data on some of the rarest diseases such as PWS. According to HPO, the symptoms which are reported very frequently in PWS patients include: abnormal bleeding, hypertrophy of the lower limb, hypertrophy of the upper limb, nevus flammeus or staining of the skin, peripheral arteriovenous fistula, telangiectasia of the skin. Frequent to occasional symptoms include: varicose veins, congestive heart failure, glaucoma and headache.
Abnormal bleeding: some skin lesions are prone to bleed easily.[11][12]
Peripheral arteriovenous fistula: abnormal communication between artery and vein that is a direct result of the abnormal connection or wiring between the artery and vein.[10][13]
Telangiectasia of the skin: Telangiectasia is a condition where tiny blood vessels become widened and form threadlike red lines and or patterns on the skin.[11] Because of their appearance and formation of web-like patterns they are also known as spider veins.[14] These patterns are referred as telangiectases.
Varicose veins
Varicose veins: Enlarged, swollen and twisted veins.[11]
Congestive heart failure: This is a condition in which the heart’s ability to meet the requirements of the body is diminished. The cardiac output is decreased and the amount of blood pumped is not adequate enough to keep the circulation from the body and lungs going.[11][15]
Glaucoma: Glaucoma is a combination of diseases that cause damage to the optic nerve and may result in vision loss and blindness.[11][16]
Headache: pain in the head.[11]
## Causes[edit]
The causes for PWS are either genetic or unknown. Some cases are a direct result of the RASA1 gene mutations. And individuals with RASA1 can be identified because this genetic mutation always causes multiple capillary malformations.[12] PWS displays an autosomal dominant pattern of inheritance.[6] This means that one copy of the damaged or altered gene is sufficient to elicit PWS disorder. In most cases, PWS occurs in people that have no family history of the condition. In such cases the mutation is sporadic. And for patients with PWS with the absence of multiple capillary mutations, the causes are unknown.
According to Boston's Children Hospital, no known food, medications or drugs can cause PWS during pregnancy. PWS is not transmitted from person to person. But it can run in families and can be inherited. PWS affects both males and females equally and as of now no racial predominance is found.[17]
## Mechanism[edit]
The causes for PWS without capillary malformations are currently unknown. Some cases of PWS are a result of mutations on the RASA1 gene which is located on chromosome 5 at position 14.3.[2][18][19] This mutation is only applicable to patients with capillary malformations. RASA1 gene is responsible for making p120-RasGAP protein.[20] This protein regulates the RAS/MAPK signaling pathway.[21] RAS/MAPK signaling pathway is used for transmitting signals from the outside the cell to the cell’s nucleus. This pathway is very important as it directs cell functions such as growth, proliferation and controls the cell movement.[18] The p120-RasGAP protein regulates the RAS/MAPK pathway by acting as a negative regulator of the signaling pathway.[20] It turns off signals.
Mutations in the RASA1 gene disrupt the normal formation of p120-RasGAP protein and result in a nonfunctional protein.[20] The protein no longer regulates the RAS/MAPK signaling pathway. However, according to NIH Genetics Home Reference, it is still unclear how exactly the disruption of p120-RasGAP protein formation leads to vascular abnormalities and limb overgrowth. But it is a known fact that somehow p120-RasGAP protein is crucial for the normal development of the vascular system and its complex network of blood vessels such as arteries, veins and capillaries.[20]
Based on current knowledge, disruption of p120-RasGAP protein is the reason behind blood vessel malformations which in turn lead to all sorts of problems such as: overgrowth in limbs, excess blood flow near the surface of the skin which leads to port wine stains and even heart failure can occur. The severity of the symptoms is based on extent of the malformations.
## Diagnosis[edit]
Making a correct diagnosis for a genetic and rare disease is oftentimes very challenging. So the doctors and other healthcare professions rely on the person's medical history, the severity of the symptoms, physical examination and lab tests to make and confirm a diagnosis.[5]
There is a possibility of interpreting the symptoms of PWS with other conditions such as AVMs and or AVFs. This is because AVMs and AVFs also involve the characteristic overgrowth in soft tissue, bone and brain.[9][10] Also PWS can be misdiagnosed with Klippel–Trenaunay syndrome (KTS).[7] However, KTS consists of the following: triad capillary malformation, venous malformation, and lymphatic malformation.[22]
Usually a specific set of symptoms such as capillary and arteriovenous malformations occur together and this is used to distinguish PWS from similar conditions. Arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs) are caused by RASA1 mutations as well. Therefore, if all the other tests (discussed below) fail to determine PWS, which is highly unlikely, genetic testing such as sequence analysis and gene-targeted deletion/duplication analysis can be performed to identify possible RASA1 gene mutations.[12]
PWS can be distinguished from other conditions because of its defining port-wine stains that are large, flat and pink. The port-wine stains and physical examination are enough to diagnose PWS.[23] But additional testing is necessary to determine the extent of the PWS syndrome. The following tests may be ordered by physicians to help determine the appropriate next steps: MRI, ultrasound, CT/CAT scan, angiogram, and echocardiogram.[23]
MRI: This is a high-resolution scan that is used to identify the extent of the hypertrophy or overgrowth of the tissues. This can also be used to identify other complications that may arise a result of hypertrophy.[23]
Angiogram
Ultrasound: this can be necessary to examine the vascular system and determine how much blood is actually flowing through the AVMs.[23]
CT/CAT scan: this scan is especially useful for examining the areas affected by PWS and is helpful for evaluating the bones in the overgrown limb.[23]
Angiogram: an angiogram can also be ordered to get a detailed look at the blood vessels in the affected or overgrown limb. In this test an interventional radiologist injects a dye into the blood vessels that will help see how the blood vessels are malformed.[23]
Echocardiogram: depending on the intensity of the PWS syndrome, an echo could also be ordered to check the condition of the heart.[23]
PWS often requires a multidisciplinary care. Depending on the symptoms, patients are dependent on: dermatologists, plastic surgeons, general surgeons, interventional radiologists, orthopedists, hematologists, neurosurgeons, vascular surgeons and cardiologists.[24] Since the arteriovenous and capillary malformations cannot be completely reconstructed and depending on the extent and severity of the malformations, these patients may be in the care of physicians for their entire lives.
### Differential diagnosis[edit]
* Klippel–Trénaunay syndrome
* Proteus syndrome[25]
* Macrodystrophia lipomatosa
* Neurofibromatosis type 1
## Prevention[edit]
At the moment, there are no known measures that can be taken in order to prevent the onset of the disorder. The Genetic Testing Registry is a resource for patients with PWS as it provides information on genetic tests that could be done to see if the patient has the necessary mutations.[5][26] If PWS is sporadic or does not have RASA1 mutation, then genetic testing will not work and there is not a way to prevent the onset of PWS.
## Treatment[edit]
There is no cure for PWS.[5] Treatment differs from person to person and depends on the extent and severity of the blood vessels malformations and the degree of correction possible. The treatments can only control the symptoms and often involve a multidisciplinary care as mentioned in diagnosis.[24] AVMs and AVFs are treated with surgery or with embolization.[5] If there are differences in the legs because of overgrowth in the affected limb, then the patient is referred to an orthopedist.[5] If legs are affected to a minimal degree, then the patient may find heel inserts to be useful as they adjust for the different lengths in the legs and can walk normally.The port-wine stains may be treated by dermatologists.[24] Supportive care is necessary and may include compression garments. These garments are tight-fitting clothing on the affected limb and helps with reducing pain and swelling.[24] This can also help with protecting the limb from bumps and scrapes that cause bleeding. Again, based on the symptoms, the doctors may recommend antibiotics or pain medications.[24]
Surgical care might also be an option for PWS patients. Surgeons may perform debulking procedure in which abnormal and overgrown tissues are removed.[24] If PWS is affecting a foot or leg, the limbs can become quite large. And orthopedic surgeon can operate on the limb to reshape the limb. If the growth of the limb is more than one inch a procedure called epiphysiodesis may be performed.[24] This procedure interrupts the growth of the leg and stops the leg from growing too big.
Other treatment options include: embolization and laser therapy. Embolization includes a substance injected by an interventional radiologists that can help in the elimination of the abnormal connections between the arteries and veins.[24] According to "Parkes Weber syndrome—Diagnostic and management paradigms: A systematic review", published in July 2017, embolization alone or in combination with surgical removal of arteriovenous malformations leads to significant clinical improvement.[27] Laser therapy can also help lighten capillary malformations and can speed up the healing process of the bleeding lesions.
Other specialists are needed for dealing with the progression of the disease, such as: physical therapists, occupational therapists and counselors.[24] Physical therapists can help ease the pain and increase the range of movements of the arm or leg that is overgrown. Occupational therapists could help with the development of motor skills impeded by physical problems. The classic port-wine stains may make the patient feel uncomfortable and counselors can help with the psychological and social issues.
## Prognosis[edit]
PWS is a progressive condition and advances with age. It is dependent on the extent of the disease and overgrowth, condition of the patient's heart, if the blood vessels are responsive to treatment, overall health of the patient, tolerance of medications and treatments. Based on these factors the prognosis is fair to good.[3] The deformity and overgrowth tend to progress with time until epiphyseal closure. A lot of medical attention is needed to correct the blood vessels.
## Recent research[edit]
According to NIH clinical trials.gov, research on the port-wine stain and its relation to polymorphisms of RASA1 has commenced in November 2010 and expected to end in November 2019.[28] The purpose of the study is to assess how the port-wine stains can lead to complex syndromes such as PWS. Currently there is little knowledge about the epidemiology of the stains and how they progress with the disease. The research is ongoing and the results are yet to be published.
In another review published in July 2017 (discussed in treatments and prognosis), Banzic et al. discussed clinical findings that embolization works really well in patients with PWS. Also, embolization along with surgical resection that targets arteriovenous malformations reliably leads to significant clinical improvements.[27]
## See also[edit]
* Klippel-Trenaunay-Weber syndrome
* List of cutaneous conditions
## References[edit]
1. ^ Reference, Genetics Home. "Parkes Weber syndrome". Genetics Home Reference. Retrieved 2019-01-21.
2. ^ a b De Wijn, Robert S.; Oduber, Charlène E.U.; Breugem, Corstiaan C.; Alders, Marielle; Hennekam, Raoul C.M.; Van Der Horst, Chantal M.A.M. (2012). "Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene". European Journal of Medical Genetics. 55 (3): 191–5. doi:10.1016/j.ejmg.2012.01.009. PMID 22342634.
3. ^ a b Hartree, Naomi. "Parkes Weber's Syndrome".
4. ^ McKusick, Victor A., MD. "Frederick Parkes Weber—1863-1962".
5. ^ a b c d e f g h i "Parkes Weber syndrome, National Center for Advancing Translational Sciences".
6. ^ a b "Parkes Weber syndrome, Genetics Home Reference".
7. ^ a b Sunderkrishnan, MD, Ravi. "Genetics of Klippel-Trenaunay-Weber Syndrome".
8. ^ "Parkes Weber Syndrome | Symptoms and Causes, Boston Children's Hospital".
9. ^ a b c "Arteriovenous fistula, Mayo Clinic".
10. ^ a b c d e f "capillary malformation-arteriovenous malformation syndrome, NIH Genetics Home Reference".
11. ^ a b c d e f g "Human Phenotype Ontology".
12. ^ a b c Bayrak-Toydemir, Pinar; et al. "RASA1-Related Disorders".
13. ^ "Arteriovenous Fistulas: Background, Pathophysiology, Etiology".
14. ^ Cobb, Cynthia. "Telangiectasia (Spider Veins)".
15. ^ Lee Kulick, Daniel; et al. "Congestive Heart Failure (CHF) Symptoms, Stages, and Prognosis".
16. ^ "Facts About Glaucoma, NIH NEI".
17. ^ Akhtar, M.A.; Campbell, D.J. (2008). "Successful obstetrical management of a woman with Parkes–Weber syndrome". European Journal of Obstetrics & Gynecology and Reproductive Biology. 140 (2): 290–1. doi:10.1016/j.ejogrb.2008.03.001. PMID 18439741.
18. ^ a b Zhou, Q.; Zheng, J.W. (2009). "Research advances in relationship between RASA1 and vascular anomalies". International Journal of Oral and Maxillofacial Surgery. 38 (5): 598. doi:10.1016/j.ijom.2009.03.703.
19. ^ "RASA1 gene RAS p21 protein activator 1".
20. ^ a b c d "RASA1 RAS p21 protein activator 1".
21. ^ "RASA1 gene RAS p21 protein activator 1".
22. ^ Mneimneh S, Tabaja A, Rajab M (2015). "Klippel-Trenaunay Syndrome with Extensive Lymphangiomas". Case Rep Pediatr. 2015: 581394. doi:10.1155/2015/581394. PMC 4637471. PMID 26587303.
23. ^ a b c d e f g "Parkes Weber Syndrome | Conditions + Treatments".
24. ^ a b c d e f g h i "Parkes Weber Syndrome | Treatments".
25. ^ EL-Sobky TA, Elsayed SM, EL Mikkawy DME (2015). "Orthopaedic manifestations of Proteus syndrome in a child with literature update". Bone Rep. 3: 104–108. doi:10.1016/j.bonr.2015.09.004. PMC 5365241. PMID 28377973.CS1 maint: multiple names: authors list (link)
26. ^ "Parkes Weber syndrome, GTR".
27. ^ a b Banzic; et al. (2017). "Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review". Phlebology. 32 (6): 371–383. doi:10.1177/0268355516664212. PMID 27511883.
28. ^ "French National Cohort of Children With Port Wine Stain (CONAPE)".
## Further reading[edit]
* Bayrak-Toydemir, Pinar; Stevenson, David (February 22, 2011). "RASA1-Related Disorders". In Pagon, Roberta A; Adam, Margaret P; Bird, Thomas D; Dolan, Cynthia R; Fong, Chin-To; Stephens, Karen (eds.). GeneReviews™.
* Online Mendelian Inheritance in Man (OMIM): PARKES WEBER SYNDROME - 608355
* Online Mendelian Inheritance in Man (OMIM): TELANGIECTASIA, HEREDITARY BENIGN - 187260
* Online Mendelian Inheritance in Man (OMIM): TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT - 187300
* Online Mendelian Inheritance in Man (OMIM): STURGE-WEBER SYNDROME; SWS - 185300
* Online Mendelian Inheritance in Man (OMIM): KLIPPEL-TRENAUNAY-WEBER SYNDROME - 149000
* Online Mendelian Inheritance in Man (OMIM): GLOMUVENOUS MALFORMATIONS; GVM - 138000
* Online Mendelian Inheritance in Man (OMIM): RAS p21 PROTEIN ACTIVATOR 1; RASA1 - 139150
* Online Mendelian Inheritance in Man (OMIM): CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION - 608354
## External links[edit]
Classification
D
* ICD-9-CM: 759.6
* OMIM: 608355
* DiseasesDB: 33714
External resources
* Orphanet: 90307
* v
* t
* e
Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
* Neurofibromatosis type I
* Watson syndrome
* Tuberous sclerosis
Guanine nucleotide exchange factor
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G protein
Heterotrimeic
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See also intracellular signaling peptides and proteins
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Parkes Weber syndrome | c0038505 | 7,217 | wikipedia | https://en.wikipedia.org/wiki/Parkes_Weber_syndrome | 2021-01-18T19:10:38 | {"gard": ["9787"], "mesh": ["D013341"], "icd-9": ["759.6"], "orphanet": ["90307"], "wikidata": ["Q7138441"]} |
A very rare acrofacialdyosotosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Acrocraniofacial dysostosis | c1860145 | 7,218 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=949 | 2021-01-23T18:46:01 | {"gard": ["3075"], "mesh": ["C536892"], "omim": ["201050"], "umls": ["C1860145"], "icd-10": ["Q87.0"], "synonyms": ["Kaplan-Plauchu-Fitch syndrome"]} |
Cramp-fasciculation syndrome (CFS) is a rare condition of the muscles characterized by persistent muscle cramping and twitching (fasciculations) in otherwise healthy individuals. This can lead to muscle discomfort, pain, or tiredness. Muscles in the leg are most commonly affected, although this condition may involve several parts of the body. Symptoms are thought to be due to over-activity of the associated nerves. In most cases, CFS occurs sporadically in people with no family history of the condition. There is limited information about the treatment of CFS, but certain medications have been reported as beneficial in individual cases.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Cramp-fasciculation syndrome | c0751381 | 7,219 | gard | https://rarediseases.info.nih.gov/diseases/6205/cramp-fasciculation-syndrome | 2021-01-18T18:01:03 | {"mesh": ["D009468"], "umls": ["C0751381"], "synonyms": []} |
This article is about ischemia of the small bowel. For ischemia of the large bowel, see ischemic colitis.
Restriction of blood flow to the small intestine resulting in injury
Mesenteric ischemia
Other namesMesenteric ischaemia, mesenteric vascular disease
Computed tomography (CT) showing dilated loops of small bowel with thickened walls (black arrow), findings characteristic of ischemic bowel due to thrombosis of the superior mesenteric vein.
SpecialtyGeneral surgery, vascular surgery, gastroenterology
SymptomsAcute: sudden severe pain[1]
Chronic: abdominal pain after eating, unintentional weight loss, vomiting[2][1]
Usual onset> 60 years old[3]
TypesAcute, chronic[1]
Risk factorsAtrial fibrillation, heart failure, chronic kidney failure, being prone to forming blood clots, previous myocardial infarction[2]
Diagnostic methodAngiography, computed tomography[1]
TreatmentStenting, medications to break down clot, surgery[1][2]
Prognosis~80% risk of death[3]
FrequencyAcute: 5 per 100,000 per year (developed world)[4]
Chronic: 1 per 100,000[5]
Mesenteric ischemia is a medical condition in which injury to the small intestine occurs due to not enough blood supply.[2] It can come on suddenly, known as acute mesenteric ischemia, or gradually, known as chronic mesenteric ischemia.[1] The acute form of the disease often presents with sudden severe abdominal pain and is associated with a high risk of death.[1] The chronic form typically presents more gradually with abdominal pain after eating, unintentional weight loss, vomiting, and fear of eating.[1][2]
Risk factors for acute mesenteric ischemia include atrial fibrillation, heart failure, chronic kidney failure, being prone to forming blood clots, and previous myocardial infarction.[2] There are four mechanisms by which poor blood flow occurs: a blood clot from elsewhere getting lodged in an artery, a new blood clot forming in an artery, a blood clot forming in the superior mesenteric vein, and insufficient blood flow due to low blood pressure or spasms of arteries.[3][6] Chronic disease is a risk factor for acute disease.[7] The best method of diagnosis is angiography, with computed tomography (CT) being used when that is not available.[1]
Treatment of acute ischemia may include stenting or medications to break down the clot provided at the site of obstruction by interventional radiology.[1] Open surgery may also be used to remove or bypass the obstruction and may be required to remove any intestines that may have died.[2] If not rapidly treated outcomes are often poor.[1] Among those affected even with treatment the risk of death is 70% to 90%.[3] In those with chronic disease bypass surgery is the treatment of choice.[1] Those who have thrombosis of the vein may be treated with anticoagulation such as heparin and warfarin, with surgery used if they do not improve.[2][8]
Acute mesenteric ischemia affects about five per hundred thousand people per year in the developed world.[4] Chronic mesenteric ischemia affects about one per hundred thousand people.[5] Most people affected are over 60 years old.[3] Rates are about equal in males and females of the same age.[3] Mesenteric ischemia was first described in 1895.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Clinical findings
* 1.2 Diagnostic heuristics
* 2 Diagnosis
* 2.1 Blood tests
* 2.2 During endoscopy
* 2.3 Plain X-ray
* 2.4 Computed tomography
* 2.5 Angiography
* 3 Treatment
* 3.1 Methods for revascularization
* 4 Prognosis
* 5 History
* 6 References
* 7 External links
## Signs and symptoms[edit]
While not always present and often overlapping, three progressive phases of mesenteric ischemia have been described:[9][10]
* A hyper active stage occurs first, in which the primary symptoms are severe abdominal pain and the passage of bloody stools. Many patients get better and do not progress beyond this phase.
* A paralytic phase can follow if ischemia continues; in this phase, the abdominal pain becomes more widespread, the belly becomes more tender to the touch, and bowel motility decreases, resulting in abdominal bloating, no further bloody stools, and absent bowel sounds on exam.
* Finally, a shock phase can develop as fluids start to leak through the damaged colon lining. This can result in shock and metabolic acidosis with dehydration, low blood pressure, rapid heart rate, and confusion. Patients who progress to this phase are often critically ill and require intensive care.
### Clinical findings[edit]
Symptoms of mesenteric ischemia vary and can be acute (especially if embolic),[11] subacute, or chronic.[12]
Case series report prevalence of clinical findings and provide the best available, yet biased, estimate of the sensitivity of clinical findings.[13][14] In a series of 58 patients with mesenteric ischemia due to mixed causes:[14]
* abdominal pain was present in 95% (median of 24 hours duration). The other three patients presented with shock and metabolic acidosis.
* nausea in 44%
* vomiting in 35%
* diarrhea in 35%
* heart rate > 100 in 33%
* rectal bleeding in 16% (not stated if this number also included occult blood – presumably not)
* constipation in 7%
### Diagnostic heuristics[edit]
In the absence of adequate quantitative studies to guide diagnosis, various heuristics help guide diagnosis:
* Mesenteric ischemia "should be suspected when individuals, especially those at high risk for acute mesenteric ischemia, develop severe and persisting abdominal pain that is disproportionate to their abdominal findings".,[15] or simply, pain out of proportion to exam.
* Regarding mesenteric arterial thrombosis or embolism: "early symptoms are present and are relative mild in 50% of cases for three to four days before medical attention is sought".[16]
* Regarding mesenteric arterial thrombosis or embolism: "Any patient with an arrhythmia such as atrial fibrillation who complains of abdominal pain is highly suspected of having embolization to the superior mesenteric artery until proved otherwise."[16]
* Regarding nonocclusive intestinal ischemia: "Any patient who takes digitalis and diuretics and who complains of abdominal pain must be considered to have nonocclusive ischemia until proved otherwise."[16]
## Diagnosis[edit]
It is difficult to diagnose mesenteric ischemia early.[17] One must also differentiate ischemic colitis, which often resolves on its own, from the more immediately life-threatening condition of acute mesenteric ischemia of the small bowel.
### Blood tests[edit]
In a series of 58 patients with mesenteric ischemia due to mixed causes:[14]
* White blood cell count >10.5 in 98% (probably an overestimate as only tested in 81% of patients)
* Lactic acid elevated 91% (probably an overestimate as only tested in 57% of patients)
In very early or very extensive acute mesenteric ischemia, elevated lactate and white blood cell count may not yet be present. In extensive mesenteric ischemia, bowel may be ischemic but separated from the blood flow such that the byproducts of ischemia are not yet circulating.[18]
### During endoscopy[edit]
A number of devices have been used to assess the sufficiency of oxygen delivery to the colon. The earliest devices were based on tonometry, and required time to equilibrate and estimate the pHi, roughly an estimate of local CO2 levels. The first device approved by the U.S. FDA (in 2004) used visible light spectroscopy to analyze capillary oxygen levels. Use during aortic aneurysm repair detected when colon oxygen levels fell below sustainable levels, allowing real-time repair. In several studies, specificity has been 83% for chronic mesenteric ischemia and 90% or higher for acute colonic ischemia, with a sensitivity of 71%-92%. This device must be placed using endoscopy, however.[19][20][21]
Findings on gastroscopy may include edematous gastric mucosa,[22] and hyperperistalsis.[23]
Finding on colonoscopy may include: fragile mucosa,[24] segmental erythema,[25] longitudinal ulcer,[26] and loss of haustrations[27]
### Plain X-ray[edit]
Plain X-rays are often normal or show non-specific findings.[28]
### Computed tomography[edit]
Computed tomography (CT scan) is often used.[29][30] The accuracy of the CT scan depends on whether a small bowel obstruction (SBO) is present.[31]
SBO absent
* prevalence of mesenteric ischemia 23%
* sensitivity 64%
* specificity 92%
* positive predictive value (at prevalence of 23%) 79%
* negative predictive value (at prevalence of 23%) 95%
SBO present
* prevalence of mesenteric ischemia 62%
* sensitivity 83%
* specificity 93%
* positive predictive value (at prevalence of 62%) 93%
* negative predictive value (at prevalence of 62%) 61%
Early findings on CT scan include:
* Mesenteric edema[29]
* Bowel dilatation[29]
* Bowel wall thickening[29]
* Mesenteric stranding[32]
* Evidence of adjacent solid organ infarctions to the kidney or spleen, consistent with a cardiac embolic shower phenomenon
In embolic acute mesenteric ischemia, CT-Angiography can be of great value for diagnosis and treatment. It may reveal the emboli itself lodged in the superior mesenteric artery, as well as the presence or absence of distal mesenteric branches.[18]
Late findings, which indicate dead bowel, include:
* Intramural bowel gas[29]
* Portal venous gas
* Free abdominal air
### Angiography[edit]
As the cause of the ischemia can be due to embolic or thrombotic occlusion of the mesenteric vessels or nonocclusive ischemia, the best way to differentiate between the etiologies is through the use of mesenteric angiography. Though it has serious risks, angiography provides the possibility of direct infusion of vasodilators in the setting of nonocclusive ischemia.[33]
## Treatment[edit]
The treatment of mesenteric ischemia depends on the cause, and can be medical or surgical. However, if bowel has become necrotic, the only treatment is surgical removal of the dead segments of bowel.
In non-occlusive mesenteric ischemia, where there is no blockage of the arteries supplying the bowel, the treatment is medical rather than surgical. People are admitted to the hospital for resuscitation with intravenous fluids, careful monitoring of laboratory tests, and optimization of their cardiovascular function. NG tube decompression and heparin anticoagulation may also be used to limit stress on the bowel and optimize perfusion, respectively.
Surgical revascularisation remains the treatment of choice for mesenteric ischaemia related to an occlusion of the vessels supplying the bowel, but thrombolytic medical treatment and vascular interventional radiological techniques have a growing role.[34]
If the ischemia has progressed to the point that the affected intestinal segments are gangrenous, a bowel resection of those segments is called for. Often, obviously dead segments are removed at the first operation, and a second-look operation is planned to assess segments that are borderline that may be savable after revascularization.[35]
### Methods for revascularization[edit]
* Open surgical thrombectomy
* Mesenteric bypass
* Trans-femoral antegrade mesenteric angioplasty and stenting
* Open retrograde mesenteric angioplasty stenting
* Trans-catheter thrombolysis[18]
## Prognosis[edit]
The prognosis depends on prompt diagnosis (less than 12–24 hours and before gangrene)[36] and the underlying cause:[37]
* venous thrombosis: 32% mortality
* arterial embolism: 54% mortality
* arterial thrombosis: 77% mortality
* non-occlusive ischemia: 73% mortality.
In the case of prompt diagnosis and therapy, acute mesenteric ischemia can be reversible.[38]
## History[edit]
Acute mesenteric ischemia was first described in 1895 while chronic disease was first described in the 1940s.[1] Chronic disease was initially known as angina abdominis.[1]
## References[edit]
1. ^ a b c d e f g h i j k l m n o Bobadilla, JL (August 2013). "Mesenteric ischemia". The Surgical Clinics of North America. 93 (4): 925–40, ix. doi:10.1016/j.suc.2013.04.002. PMID 23885938.
2. ^ a b c d e f g h Yelon, Jay A. (2014). Geriatric Trauma and Critical Care (Aufl. 2014 ed.). New York: Springer Verlag. p. 182. ISBN 9781461485018. Archived from the original on 2017-09-08.
3. ^ a b c d e f Britt, L.D. (2012). Acute care surgery (1st ed.). Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. p. 621. ISBN 9781608314287. Archived from the original on 2017-09-08.
4. ^ a b Geoffrey D. Rubin (2012). CT and MR Angiography: Comprehensive Vascular Assessment. Lippincott Williams & Wilkins. p. 318. ISBN 9781469801834. Archived from the original on 2017-09-08.
5. ^ a b Gustavo S. Oderich (2014). Mesenteric Vascular Disease: Current Therapy. Springer. p. 105. ISBN 9781493918478. Archived from the original on 2017-09-08.
6. ^ Creager, Mark A. (2013). Vascular medicine : a companion to Braunwald's heart disease (2nd ed.). Philadelphia, PA: Elsevier/Saunders. pp. 323–324. ISBN 9781437729306. Archived from the original on 2017-09-08.
7. ^ Sreenarasimhaiah, J (April 2005). "Chronic mesenteric ischemia". Best Practice & Research. Clinical Gastroenterology. 19 (2): 283–95. doi:10.1016/j.bpg.2004.11.002. PMID 15833694.
8. ^ Liapis, C.D. (2007). Vascular surgery. Berlin: Springer. p. 420. ISBN 9783540309567. Archived from the original on 2017-09-08.
9. ^ Boley, SJ, Brandt, LJ, Veith, FJ (1978). "Ischemic disorders of the intestines". Curr Probl Surg. 15 (4): 1–85. doi:10.1016/S0011-3840(78)80018-5. PMID 365467.CS1 maint: multiple names: authors list (link)
10. ^ Hunter G, Guernsey J (1988). "Mesenteric ischemia". Med Clin North Am. 72 (5): 1091–115. doi:10.1016/S0025-7125(16)30731-3. PMID 3045452.
11. ^ Oldenburg WA, Lau LL, Rodenberg TJ, Edmonds HJ, Burger CD (2004). "Acute mesenteric ischemia: a clinical review". Arch. Intern. Med. 164 (10): 1054–62. doi:10.1001/archinte.164.10.1054. PMID 15159262.
12. ^ Font VE, Hermann RE, Longworth DL (1989). "Chronic mesenteric venous thrombosis: difficult diagnosis and therapy". Cleveland Clinic Journal of Medicine. 56 (8): 823–8. doi:10.3949/ccjm.56.8.823. PMID 2691119.
13. ^ Levy PJ, Krausz MM, Manny J (1990). "Acute mesenteric ischemia: improved results--a retrospective analysis of ninety-two patients". Surgery. 107 (4): 372–80. PMID 2321134.
14. ^ a b c Park WM, Gloviczki P, Cherry KJ, Hallett JW, Bower TC, Panneton JM, Schleck C, Ilstrup D, Harmsen WS, Noel AA (2002). "Contemporary management of acute mesenteric ischemia: Factors associated with survival". J. Vasc. Surg. 35 (3): 445–52. doi:10.1067/mva.2002.120373. PMID 11877691.CS1 maint: multiple names: authors list (link)
15. ^ "American Gastroenterological Association Medical Position Statement: guidelines on intestinal ischemia". Gastroenterology. 118 (5): 951–3. May 2000. doi:10.1016/s0016-5085(00)70182-x. PMID 10784595.
16. ^ a b c Cope, Zachary; Silen, William (April 2005). Cope's Early Diagnosis of the Acute Abdomen (21st ed.). New York: Oxford University Press. ISBN 978-0-19-517545-5. LCCN 2004058138. OCLC 56324163.
17. ^ Evennett NJ, Petrov MS, Mittal A, Windsor JA (July 2009). "Systematic review and pooled estimates for the diagnostic accuracy of serological markers for intestinal ischemia". World J Surg. 33 (7): 1374–83. doi:10.1007/s00268-009-0074-7. PMID 19424744. S2CID 20115312.
18. ^ a b c Cronenwett, Jack L.; Wayne Johnston, K. (2014). Rutherford's vascular surgery (Eighth ed.). ISBN 978-1455753048.
19. ^ Lee ES, Bass A, Arko FR, et al. (2006). "Intraoperative colon mucosal oxygen saturation during aortic surgery". The Journal of Surgical Research. 136 (1): 19–24. doi:10.1016/j.jss.2006.05.014. PMID 16978651.
20. ^ Friedland S, Benaron D, Coogan S, et al. (2007). "Diagnosis of chronic mesenteric ischemia by visible light spectroscopy during endoscopy". Gastrointest Endosc. 65 (2): 294–300. doi:10.1016/j.gie.2006.05.007. PMID 17137857.
21. ^ Lee ES, Pevec WC, Link DP, et al. (2008). "Use of T-stat to Predict Colonic Ischemia during and after Endovascular Aneurysm Repair: A case report". J Vasc Surg. 47 (3): 632–634. doi:10.1016/j.jvs.2007.09.037. PMC 2707776. PMID 18295116.
22. ^ Clair, Daniel G.; Beach, Jocelyn M. (2016-03-10). Campion, Edward W. (ed.). "Mesenteric Ischemia". New England Journal of Medicine. 374 (10): 959–968. doi:10.1056/NEJMra1503884. ISSN 0028-4793. PMID 26962730.
23. ^ Mayo Clinic gastroenterology and hepatology board review. Hauser, Stephen C., Pardi, Darrell S., Poterucha, John J., Mayo Clinic. (3rd ed.). Rochester [Minn.]: Mayo Clinic Scientific Press. 2008. ISBN 978-1-4200-9224-0. OCLC 285067394.CS1 maint: others (link)
24. ^ Cotton, Peter B. (2003). Practical gastrointestinal endoscopy : the fundamentals. Williams, Christopher B. (Christopher Beverley) (5th ed.). Malden, Mass.: Blackwell Pub. ISBN 1-4051-0235-7. OCLC 50731401.
25. ^ Schwartz's principles of surgery. Schwartz, Seymour I., 1928-, Brunicardi, F. Charles,, Andersen, Dana K.,, Billiar, Timothy R.,, Dunn, David L.,, Hunter, John G. (Tenth ed.). New York. 16 July 2014. ISBN 978-0-07-179675-0. OCLC 855332914.CS1 maint: others (link)
26. ^ Corman's colon and rectal surgery. Corman, Marvin L., 1939-, Preceded by: Corman, Marvin L., 1939- ([Sixth edition] ed.). Philadelphia. ISBN 9781451111149. OCLC 820121142.CS1 maint: others (link)
27. ^ Sabiston textbook of surgery : the biological basis of modern surgical practice. Townsend, Courtney M., Jr.,, Beauchamp, R. Daniel,, Evers, B. Mark, 1957-, Mattox, Kenneth L., 1938- (20th ed.). Philadelphia, PA. 2017. ISBN 978-0-323-29987-9. OCLC 921338900.CS1 maint: others (link)
28. ^ Smerud M, Johnson C, Stephens D (1990). "Diagnosis of bowel infarction: a comparison of plain films and CT scans in 23 cases". AJR Am J Roentgenol. 154 (1): 99–103. doi:10.2214/ajr.154.1.2104734. PMID 2104734.
29. ^ a b c d e Alpern M, Glazer G, Francis I (1988). "Ischemic or infarcted bowel: CT findings". Radiology. 166 (1 Pt 1): 149–52. doi:10.1148/radiology.166.1.3336673. PMID 3336673.
30. ^ Taourel P, Deneuville M, Pradel J, Régent D, Bruel J (1996). "Acute mesenteric ischemia: diagnosis with contrast-enhanced CT" (PDF). Radiology. 199 (3): 632–6. doi:10.1148/radiology.199.3.8637978. PMID 8637978. Archived from the original (PDF) on 2008-02-27. Retrieved 2007-09-27.
31. ^ Staunton M, Malone DE (2005). "Can acute mesenteric ischemia be ruled out using computed tomography? Critically appraised topic |". Canadian Association of Radiologists Journal. 56 (1): 9–12. PMID 15835585.
32. ^ Pereira JM, Sirlin CB, Pinto PS, Jeffrey RB, Stella DL, Casola G (2004). "Disproportionate fat stranding: a helpful CT sign in patients with acute abdominal pain". Radiographics. 24 (3): 703–15. doi:10.1148/rg.243035084. PMID 15143223.
33. ^ Kao, Lillian S., and Tammy Lee. PreTest Surgery: PreTest Self-assessment and Review. New York: McGraw-Hill Medical, 2009.
34. ^ Sreenarasimhaiah J (2003). "Diagnosis and management of intestinal ischaemic disorders". BMJ. 326 (7403): 1372–6. doi:10.1136/bmj.326.7403.1372. PMC 1126251. PMID 12816826.
35. ^ Meng, X; Liu, L; Jiang, H (August 2010). "Indications and procedures for second-look surgery in acute mesenteric ischemia". Surgery Today. 40 (8): 700–5. doi:10.1007/s00595-009-4140-4. PMID 20676851. S2CID 9926212.
36. ^ Brandt, LJ; Boley, SJ (May 2000). "AGA technical review on intestinal ischemia. American Gastrointestinal Association". Gastroenterology. 118 (5): 954–968. doi:10.1016/s0016-5085(00)70183-1. PMID 10784596.
37. ^ Schoots IG, Koffeman GI, Legemate DA, Levi M, van Gulik TM (2004). "Systematic review of survival after acute mesenteric ischaemia according to disease aetiology". The British Journal of Surgery. 91 (1): 17–27. doi:10.1002/bjs.4459. PMID 14716789. S2CID 23812099.
38. ^ Nuzzo, Alexandre; Corcos, Olivier (13 October 2016). "Reversible Acute Mesenteric Ischemia". New England Journal of Medicine. 375 (15): e31. doi:10.1056/NEJMicm1509318. PMID 27732829.
## External links[edit]
Classification
D
* ICD-10: K55.9
* ICD-9-CM: 557.9
* MeSH: D065666
* DiseasesDB: 29034
External resources
* MedlinePlus: 001156
* eMedicine: radio/2726
* v
* t
* e
Diseases of the digestive system
Upper GI tract
Esophagus
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Stomach
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* Dyspepsia
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(Duodenum/Jejunum/Ileum)
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Large and/or small
* Enterocolitis
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* Pyogenic
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* Hepatorenal syndrome
* Peliosis hepatis
* Metabolic disorders
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* Hemochromatosis
Gallbladder
* Cholecystitis
* Gallstone / Cholelithiasis
* Cholesterolosis
* Adenomyomatosis
* Postcholecystectomy syndrome
* Porcelain gallbladder
Bile duct/
Other biliary tree
* Cholangitis
* Primary sclerosing cholangitis
* Secondary sclerosing cholangitis
* Ascending
* Cholestasis/Mirizzi's syndrome
* Biliary fistula
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Pancreatic
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Other
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* v
* t
* e
Ischaemia and infarction
Ischemia
* Location
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* Small intestine
Infarction
* Types
* Anemic
* Hemorrhagic
* Location
* Heart
* Brain
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* Limb
* Gangrene
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Mesenteric ischemia | c0267412 | 7,220 | wikipedia | https://en.wikipedia.org/wiki/Mesenteric_ischemia | 2021-01-18T19:01:28 | {"mesh": ["D065666"], "umls": ["C0267412"], "icd-9": ["557.9"], "icd-10": ["K55.9"], "wikidata": ["Q221463"]} |
Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high blood pressure) before age 21. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Glucocorticoid-remediable aldosteronism | c1260386 | 7,221 | gard | https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism | 2021-01-18T18:00:17 | {"mesh": ["C563177"], "omim": ["103900"], "orphanet": ["403"], "synonyms": ["Familial hyperaldosteronism type 1", "Hyperaldosteronism, familial type 1", "Dexamethasone sensitive hypertension", "Glucocorticoid sensitive hypertension"]} |
Quadrichrome vitiligo
SpecialtyDermatology
Quadrichrome vitiligo is another variant of vitiligo, a cutaneous condition, which reflects the presence of a fourth color (dark brown) at sites of perifollicular repigmentation.[1]
## See also[edit]
* ABCD syndrome
* List of cutaneous conditions
* Trichrome vitiligo
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 917. ISBN 978-1-4160-2999-1.
* v
* t
* e
Pigmentation disorders/Dyschromia
Hypo-/
leucism
Loss of
melanocytes
Vitiligo
* Quadrichrome vitiligo
* Vitiligo ponctué
Syndromic
* Alezzandrini syndrome
* Vogt–Koyanagi–Harada syndrome
Melanocyte
development
* Piebaldism
* Waardenburg syndrome
* Tietz syndrome
Loss of melanin/
amelanism
Albinism
* Oculocutaneous albinism
* Ocular albinism
Melanosome
transfer
* Hermansky–Pudlak syndrome
* Chédiak–Higashi syndrome
* Griscelli syndrome
* Elejalde syndrome
* Griscelli syndrome type 2
* Griscelli syndrome type 3
Other
* Cross syndrome
* ABCD syndrome
* Albinism–deafness syndrome
* Idiopathic guttate hypomelanosis
* Phylloid hypomelanosis
* Progressive macular hypomelanosis
Leukoderma w/o
hypomelanosis
* Vasospastic macule
* Woronoff's ring
* Nevus anemicus
Ungrouped
* Nevus depigmentosus
* Postinflammatory hypopigmentation
* Pityriasis alba
* Vagabond's leukomelanoderma
* Yemenite deaf-blind hypopigmentation syndrome
* Wende–Bauckus syndrome
Hyper-
Melanin/
Melanosis/
Melanism
Reticulated
* Dermatopathia pigmentosa reticularis
* Pigmentatio reticularis faciei et colli
* Reticulate acropigmentation of Kitamura
* Reticular pigmented anomaly of the flexures
* Naegeli–Franceschetti–Jadassohn syndrome
* Dyskeratosis congenita
* X-linked reticulate pigmentary disorder
* Galli–Galli disease
* Revesz syndrome
Diffuse/
circumscribed
* Lentigo/Lentiginosis: Lentigo simplex
* Liver spot
* Centrofacial lentiginosis
* Generalized lentiginosis
* Inherited patterned lentiginosis in black persons
* Ink spot lentigo
* Lentigo maligna
* Mucosal lentigines
* Partial unilateral lentiginosis
* PUVA lentigines
* Melasma
* Erythema dyschromicum perstans
* Lichen planus pigmentosus
* Café au lait spot
* Poikiloderma (Poikiloderma of Civatte
* Poikiloderma vasculare atrophicans)
* Riehl melanosis
Linear
* Incontinentia pigmenti
* Scratch dermatitis
* Shiitake mushroom dermatitis
Other/
ungrouped
* Acanthosis nigricans
* Freckle
* Familial progressive hyperpigmentation
* Pallister–Killian syndrome
* Periorbital hyperpigmentation
* Photoleukomelanodermatitis of Kobori
* Postinflammatory hyperpigmentation
* Transient neonatal pustular melanosis
Other
pigments
Iron
* Hemochromatosis
* Iron metallic discoloration
* Pigmented purpuric dermatosis
* Schamberg disease
* Majocchi's disease
* Gougerot–Blum syndrome
* Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis
* Lichen aureus
* Angioma serpiginosum
* Hemosiderin hyperpigmentation
Other
metals
* Argyria
* Chrysiasis
* Arsenic poisoning
* Lead poisoning
* Titanium metallic discoloration
Other
* Carotenosis
* Tar melanosis
Dyschromia
* Dyschromatosis symmetrica hereditaria
* Dyschromatosis universalis hereditaria
See also
* Skin color
* Skin whitening
* Tanning
* Sunless
* Tattoo
* removal
* Depigmentation
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Quadrichrome vitiligo | None | 7,222 | wikipedia | https://en.wikipedia.org/wiki/Quadrichrome_vitiligo | 2021-01-18T18:31:34 | {"wikidata": ["Q7268396"]} |
A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Retiform hemangioendothelioma | c1304512 | 7,223 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=458763 | 2021-01-23T17:13:55 | {"icd-10": ["D18.0"]} |
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (November 2011) (Learn how and when to remove this template message)
A personality development disorder is an inflexible and pervasive pattern of inner experience and behavior in children and adolescents, that markedly deviates from the expectations of the individual's culture.
Personality development disorder is not recognized as a mental disorder in any of the medical manuals, such as the ICD-10[1] or the DSM-IV,[2] nor the more recent DSM-5.[3] DSM-IV allows the diagnosis of personality disorders in children and adolescents only as an exception. This diagnosis is currently proposed by a few authors in Germany.[4] The term personality development disorder is used to emphasize the changes in personality development which might still take place and the open outcome during development. Personality development disorder is considered to be a childhood risk factor or early stage of a later personality disorder in adulthood.[citation needed]
Adults usually show personality patterns over a long duration of time. Children and adolescents however still show marked changes in personality development. Some of these children and adolescents have a hard time developing their personalities in an ordinary way. DSM-IV states, for example, that children and adolescents are at higher risk to develop an antisocial personality disorder if they showed signs of conduct disorder and attention deficit disorder before the age of 10. This led Adam & Breithaupt-Peters (2010) to the idea that these children and adolescents need to be looked at more carefully. The therapy which these children and adolescents need might be more intense and maybe even different from looking at the disorders traditionally. The concept of personality development disorders also focuses on the severity of the disorder and the poor prognosis. An early diagnosis might help to get the right treatment at an early stage and thus might help to prevent a personality disorder outcome in adulthood.
## Contents
* 1 Description
* 2 Cause
* 3 Diagnosis
* 3.1 Definition
* 4 Treatment
* 5 See also
* 6 References
* 7 Literature
## Description[edit]
Similar to the adult diagnosis personality disorder these children display enduring patterns of inner experience and behavior deviating markedly from the expectations of the individual's culture. These patterns are inflexible and pervasive across a broad range of personal and social situations, lead to clinically significant distress or impairment in social, occupational or other important areas of functioning and they are stable and of long duration (more than a year).
The term personality development disorder (Persönlichkeitsentwicklungsstörung) was first used in German by Spiel & Spiel (1987). Adam & Breithaupt-Peters (2010) adapted the term to a more modern concept and suggested the following definition.
## Cause[edit]
Similar to adult personality disorders there are multiple causes and causal interactions for personality development disorders. In clinical practice it is important to view the disorder multi-perspectively and from an individual perspective. Biological and neurological causes need to be observed just as much as psychosocial factors. Looking at the disorder from only one perspective (e.g. (s)he had a bad childhood) often results in ignorance of important other factors or causal interactions. This might be one of the main reasons why traditional treatment methods often fail with these disorders. Only a multi-perspective view can provide for a multi-dimensional treatment approach which seems to be the key for these disorders.
## Diagnosis[edit]
The diagnosis personality development disorder should only be given carefully and after a longer period of evaluation. Also a thorough diagnostic evaluation is necessary. Parents should be questioned separately and together with the child or adolescent to evaluate the severity and duration of the problems. In addition standardized personality tests might be helpful. It is also useful to ask the family what treatment approaches they have already tried so far without success.
### Definition[edit]
According to Adam und Breithaupt-Peters personality development disorders are defined as complex disorders
* which show similarity to a certain type of personality disorder in adulthood
* which persist over a long period of time (more than a year) and show a tendency towards being chronic
* which have a severe negative impact on more than one important area of functioning or social life
* which show resistance to traditional educational and therapeutic treatment methods
* which result in a reduced insight into or ignorance of the own problem behavior. The family usually suffers more than the child or adolescent and has a hard time dealing with the diminished introspection.
* which make positive interactions between the children/adolescents and other people merely impossible. Instead social collisions are part of everyday life.
* which threaten the social integration of the young person into a social life and might result in an emotional disability.
## Treatment[edit]
Personality development disorders usually need a complex and multi-dimensional treatment approach (Adam & Breithaupt-Peters, 2010). Since the problems are complex, treatment needs to affect the conditions in all impaired functional and social areas. Both educational and therapeutic methods are helpful and problem and strength based approaches work hand in hand. Parents need to be included as well as the school environment. Treatment methods need to be flexible and adjustable to the individual situation. Even elements of social work can be helpful when supporting the families and in some cases medication might be necessary. When suicidal behaviors or self-injuries are prominent treatment might best be done in a hospital.
For some personality development disorders (e.g. borderline personality disorder) treatment methods from adults can be adapted (e.g. dialectical behavior therapy, Miller et a., 2006).
## See also[edit]
* Borderline personality disorder
* Macdonald triad
* Personality development
* Personality disorder
## References[edit]
1. ^ "ICD 10 Codes for Psychiatry". Archived from the original on 2010-10-09.
2. ^ "Apa Diagnostic Classification Dsm-Iv-Tr". Archived from the original on 2011-10-26.
3. ^ "Archived copy". Archived from the original on 2010-12-04. Retrieved 2017-03-22.CS1 maint: archived copy as title (link)
4. ^ *Adam, A. & Breithaupt-Peters, M. (2010). Persönlichkeitentwicklungsstörungen bei Kindern und Jugendlichen. Stuttgart: Kohlhammer Verlag. (ISBN 978-3170212428)
## Literature[edit]
* Bleiberg, E. (2004). Treating Personality Disorders in Children and Adolescents: A Relational Approach. New York, NY: Guildford Press. (ISBN 978-1593850180)
* Freeman, A. (2007). Personality Disorders in Childhood and Adolescence. Hoboken, NJ: Wiley. (ISBN 978-0471683049)
* Kernberg, P.; Weiner, A. & Bardenstein, K. (2000). Personality Disorders in Children and Adolescents. New York, NY: Basic Books. (ISBN 978-0465095629)
* Miller, A.; Rathus, J.; Linehan, M. & Swenson, C. (2006). Dialectical Behavior Therapy with Suicidal Adolescents. New York, NY: Guilford Press (ISBN 978-1593853839)
* Spiel, W. & Spiel, G. (1987). Kompendium der Kinder- und Jugendneuropsychiatrie. München, Basel: Ernst Reinhard.
* Versonnen, F. & Tuinier, S. (2008). From personality disorder towards personality development disorders. European Psychiatry, Volume 23, Supplement 2, S98 (16th AEP Congress - Abstract book, 16th AEP Congress).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Personality development disorder | None | 7,224 | wikipedia | https://en.wikipedia.org/wiki/Personality_development_disorder | 2021-01-18T19:09:00 | {"wikidata": ["Q430947"]} |
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Macrocephaly-developmental delay syndrome | c3810225 | 7,225 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=397612 | 2021-01-23T18:28:40 | {"omim": ["615637"], "icd-10": ["Q75.3"]} |
Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause recurrent falls.
Rapid-onset dystonia parkinsonism causes movement abnormalities that can make it difficult to walk, talk, and carry out other activities of daily life. In this disorder, dystonia affects the arms and legs, causing muscle cramping and spasms. Facial muscles are often affected, resulting in problems with speech and swallowing. The movement abnormalities associated with rapid-onset dystonia parkinsonism tend to begin near the top of the body and move downward, first affecting the facial muscles, then the arms, and finally the legs.
The signs and symptoms of rapid-onset dystonia parkinsonism most commonly appear in adolescence or young adulthood. In some affected individuals, signs and symptoms can be triggered by an infection, physical stress (such as prolonged exercise), emotional stress, or alcohol consumption. The signs and symptoms tend to stabilize within about a month, but they typically do not improve much after that. In some people with this condition, the movement abnormalities abruptly worsen during a second episode several years later.
Some people with rapid-onset dystonia parkinsonism have been diagnosed with anxiety, social phobias, depression, and seizures. It is unclear whether these disorders are related to the genetic changes that cause rapid-onset dystonia parkinsonism.
## Frequency
Rapid-onset dystonia parkinsonism appears to be a rare disorder, although its prevalence is unknown. It has been diagnosed in individuals and families from the United States, Europe, and Korea.
## Causes
Rapid-onset dystonia parkinsonism is caused by mutations in the ATP1A3 gene. This gene provides instructions for making one part of a larger protein called Na+/K+ ATPase, also known as the sodium pump. This protein is critical for the normal function of nerve cells (neurons) in the brain. It transports charged atoms (ions) into and out of neurons, which is an essential part of the signaling process that controls muscle movement.
Mutations in the ATP1A3 gene reduce the activity of the Na+/K+ ATPase or make the protein unstable. Studies suggest that the defective protein is unable to transport ions normally, which disrupts the electrical activity of neurons in the brain. However, it is unclear how a malfunctioning Na+/K+ ATPase causes the movement abnormalities characteristic of rapid-onset dystonia parkinsonism.
In some people with rapid-onset dystonia parkinsonism, no mutation in the ATP1A3 gene has been identified. The genetic cause of the disorder is unknown in these individuals. Researchers believe that mutations in at least one other gene, which has not been identified, can cause this disorder.
### Learn more about the gene associated with Rapid-onset dystonia parkinsonism
* ATP1A3
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ATP1A3 gene in each cell is sufficient to cause the disorder.
In most cases, an affected person inherits a mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Not everyone who has an ATP1A3 mutation will ultimately develop the signs and symptoms of rapid-onset dystonia parkinsonism. It is unclear why some people with a gene mutation develop movement abnormalities and others do not.
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Rapid-onset dystonia parkinsonism | c1868681 | 7,226 | medlineplus | https://medlineplus.gov/genetics/condition/rapid-onset-dystonia-parkinsonism/ | 2021-01-27T08:24:44 | {"gard": ["9628"], "mesh": ["C538001"], "omim": ["128235"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that early-onset progressive encephalopathy with episodic rhabdomyolysis (PEERB) is caused by homozygous mutation in the TRAPPC2L gene (610970) on chromosome 16q24.
Clinical Features
Milev et al. (2018) reported 2 unrelated girls who presented at 9 and 16 months of age, respectively, with severe neurodegeneration associated with a febrile illness. One patient had mild global developmental delay before the onset of acute symptoms. During the febrile illness, both patients showed an encephalopathy with status epilepticus and thereafter showed severe developmental regression with acquired microcephaly. The patients also had increased serum creatine kinase suggestive of rhabdomyolysis. At age 3 years, 1 patient had tetraplegia, absent speech, inability to walk, and cortical visual impairment. The other patient, who was 16 years old, had recurrent episodes of neurodegeneration associated with infection or fever. She also had tetraplegia, absent speech, and inability to walk. The first patient was born of consanguineous Italian parents, whereas the second patient was born of unrelated Austrian parents.
Inheritance
The transmission pattern of PEERB in the families reported by Milev et al. (2018) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 unrelated girls with PEERB, Milev et al. (2018) identified a homozygous missense mutation in the TRAPPC2L gene (D37Y; 610970.0001). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in both families. Haplotype analysis suggested a founder effect. Patient fibroblasts showed expression of the mutant protein, but had intracellular trafficking defects from the ER to the Golgi to the plasma membrane. Studies in yeast showed that the variant disrupted the interaction with TRAPPC10 (602103) and could not rescue the growth defect in a yeast-knockout. Additional studies showed that the mutation caused increased levels of activated RAB11 (see, e.g., RAB11A, 605570) and a reduction in cilia formation.
INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly, acquired Eyes \- Cortical visual impairment (1 patient) MUSCLE, SOFT TISSUES \- Rhabdomyolysis, episodic NEUROLOGIC Central Nervous System \- Encephalopathy, progressive, episodic \- Globally impaired development, severe \- Developmental regression \- Inability to walk \- Absent speech \- Seizures \- Status epilepticus \- Tetraplegia \- Brain imaging shows delayed myelination \- Cerebral atrophy, progressive LABORATORY ABNORMALITIES \- Increased serum creatine kinase, episodic MISCELLANEOUS \- Onset in infancy \- Progressive disorder \- Episodic exacerbation associated with illness \- Two unrelated patients have been reported (last curated February 2019) MOLECULAR BASIS \- Caused by mutation in the trafficking protein particle complex 2-like gene (TRAPPC2L, 610970.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS | None | 7,227 | omim | https://www.omim.org/entry/618331 | 2019-09-22T15:42:28 | {"omim": ["618331"]} |
A number sign (#) is used with this entry because of evidence that Watson syndrome (WTSN) is caused by heterozygous mutation in the NF1 gene (613113) on chromosome 17q11.
Description
Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).
Clinical Features
Watson (1967) described 15 persons from 2 generations of each of 3 families with pulmonic stenosis (8/15), cafe-au-lait spots (15/15) and low normal or dull intelligence (12/15). There were 8 males and 7 females; male-to-male transmission was noted. There were no signs of neurofibromata.
Partington et al. (1985) described a father (aged 57 years), his daughter (aged 20) and his son (aged 18), all with pulmonary stenosis, cafe-au-lait spots, and dull intelligence. The daughter also had soft tissue limitation of movement of the knees and ankles and the father had ectasia of the coronary arteries. None had neurofibromas, Lisch nodules, lentigines, or deafness. Partington et al. (1985) contended that the Watson syndrome is distinct from both neurofibromatosis I (NF1; 162200) and the LEOPARD syndrome (151100). Although it was not obvious from the original description, short stature is a universal feature of the Watson syndrome.
Allanson et al. (1989) reviewed the 2 largest reported families including members of the extended family who had not previously been examined. They expanded the clinical phenotype to include relative macrocephaly and Lisch nodules in most affected individuals and neurofibromata in at least 4 family members. Allanson et al. (1991) extended their review to an additional family. Neurofibromas were found in about one-third of affected persons.
Mapping
Because of clinical similarities between Watson syndrome and neurofibromatosis, Allanson et al. (1991) performed linkage studies in families with Watson syndrome, using probes known to flank the NF1 gene on chromosome 17. Tight linkage with Watson syndrome was found (maximum lod = 3.29 at theta = 0.0).
Upadhyaya et al. (1989, 1990) performed a linkage study of a 3-generation family with Watson syndrome. Close linkage with DNA marker D17S33 was found; maximum lod = 3.28 at theta = 0.00. This marker is also the closest marker to NF1. Thus, Watson syndrome and NF1 may be allelic, or it is possible that pulmonic stenosis is the result of a change in an adjacent gene.
Using probes flanking the NF1 gene on chromosome 17, Allanson et al. (1991) found tightest linkage with probe HHH202; maximum lod score = 3.59 at theta = 0.0. They interpreted this to indicate that either the Watson syndrome and NF1 are allelic or that there is a group of contiguous genes responsible for the several features of the Watson syndrome.
Relevant to the question of whether the Watson syndrome is a contiguous gene syndrome resulting from deletion of both the NF1 gene and a gene for Noonan syndrome, Sharland et al. (1992), in a linkage study in 11 families with Noonan syndrome in 2 or 3 generations, excluded the proximal region of 17q as the location of the gene.
Molecular Genetics
Supporting the conclusion that Watson syndrome is allelic to NF1 is the finding by Upadhyaya et al. (1992) of an 80-kb deletion in the NF1 gene (613113.0011) in a patient with Watson syndrome. Similarly, Tassabehji et al. (1993) demonstrated an almost perfect in-frame tandem duplication of 42 bases in exon 28 of the NF1 gene in 3 members of a family with Watson syndrome (613113.0010).
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature HEAD & NECK Head \- Relative macrocephaly Eyes \- Lisch nodules CARDIOVASCULAR Heart \- Pulmonary valvular stenosis SKIN, NAILS, & HAIR Skin \- Multiple cafe-au-lait spots \- Neurofibromas \- Axillary freckling NEUROLOGIC Central Nervous System \- Low IQ MISCELLANEOUS \- Allelic to neurofibromatosis-1 (NF1, 162200 ) MOLECULAR BASIS \- Caused by mutations in the neurofibromin gene (NF1, 162200.0010 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| WATSON SYNDROME | c0553586 | 7,228 | omim | https://www.omim.org/entry/193520 | 2019-09-22T16:31:57 | {"mesh": ["D009456"], "omim": ["193520"], "orphanet": ["3444"], "synonyms": ["Alternative titles", "PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS", "CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS"]} |
This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (June 2014) (Learn how and when to remove this template message)
Bigeminy
Other namesbigemini
Bigeminy as seen on a 12 lead ECG
Pronunciation
* bigeminy /baɪˈdʒɛmɪni/ or bigemini /baɪˈdʒɛmɪˌnaɪ/
Bigeminy is a cardiac arrythmia in which there is a single ectopic beat, or irregular heartbeat, following each regular heartbeat. Most often this is due to ectopic beats occurring so frequently that there is one after each sinus beat, or normal heartbeat. The two beats are figuratively similar to two twins (hence bi- \+ gemini). For example, in ventricular bigeminy, a sinus beat is shortly followed by a PVC, a pause, another normal beat, and then another PVC.[1] In atrial bigeminy, the other "twin" is a premature atrial contraction (PAC).
## Contents
* 1 Cause
* 2 Diagnosis
* 2.1 Rule of bigeminy
* 2.2 Classification
* 3 Treatment
* 4 References
## Cause[edit]
After any PVC there is a pause that can lead to the development of bigeminy. A PVC wavefront often encounters a refractory AV node that does not conduct the wavefront retrograde. Thus the atrium is not depolarized and the sinus node is not reset. Since the sinus p wave to PVC interval is less than the normal P-P interval, the interval between the PVC and the next p wave is prolonged to equal the normal time elapsed during two P-P intervals. This is called a "compensatory" pause. The pause after the PVC leads to a longer recovery time, which is associated with a higher likelihood of myocardium being in different stages of repolarization. This then allows for re-entrant circuits and sets up the ventricle for another PVC after the next sinus beat.[2] The constant interval between the sinus beat and PVC suggests a reentrant etiology rather than spontaneous automaticity of the ventricle.[3]
Atrial premature complexes (APCs) do not have a compensatory pause since they reset the sinus node but atrial or supraventricular bigeminy can occur. If the APCs are very premature, the wavefront can encounter a refractory AV node and not be conducted. This can be mistaken for sinus bradycardia if the APC is buried in the T wave since the APC will reset the SA node and lead to a long P-P interval.[2]
## Diagnosis[edit]
A rhythm strip demonstrating bigeminy
simple ECG of a Supraventricular Bigeminy
### Rule of bigeminy[edit]
When the atrial rhythm is irregular (as in atrial fibrillation or sinus arrythmia) the presence of bigeminy depends on the length of the P-P interval and happens more frequently with a longer interval. As with post PVC pauses, a longer P-P interval leads to a higher chance of re-entrant circuits and thus PVCs. The term "rule of bigeminy" is used to refer to the dependence of bigeminy on the ventricular cycle length in irregular rhythms.[3]
### Classification[edit]
There can be similar patterns depending on the frequency of abnormal beats. If every other beat is abnormal, it is described as bigeminal. If every third beat is aberrant, it is trigeminal; every fourth would be quadrigeminal. Typically, if every fifth or more beat is abnormal, the aberrant beat would be termed occasional.[1]
Bigeminy is contrasted with couplets, which are paired abnormal beats. Groups of three abnormal beats are called triplets and are considered a brief run of non-sustained ventricular tachycardia (NSVT), and if the grouping lasts for more than 30 seconds, it is ventricular tachycardia (VT).[2]
## Treatment[edit]
In people without underlying heart disease and who do not have any symptoms, bigeminy in itself does not require any treatment. If it does become symptomatic, beta-blockers can be used to try and suppress ventricular ectopy. Class I and III agents are generally avoided as they can provoke more serious arrhythmias.[4]
## References[edit]
1. ^ a b Shvilkin, Ary L. Goldberger, Zachary D. Goldberger, Alexei (2013). Goldberger's Clinical Electrocardiography: A Simplified Approach (8th ed.). Philadelphia, PA: Elsevier/Saunders. ISBN 9780323087865.
2. ^ a b c Wagner, Galen S. (2001). Marriott's Practical Electrocardiography (10th ed.). Philadelphia, PA: Williams & Wilkins. ISBN 0683307460.
3. ^ a b Langendorf, R.; Pick, A.; Winternitz, M. (1 March 1955). "Mechanisms of Intermittent Ventricular Bigeminy: I. Appearance of Ectopic Beats Dependent Upon Length of the Ventricular Cycle, the "Rule of Bigeminy"". Circulation. 11 (3): 422–430. doi:10.1161/01.CIR.11.3.422.
4. ^ Papadakis, Maxine A.; Stephen J. McPhee; Michael W. Rabow, eds. (2013). Current Medical Diagnosis and Treatment 2014 (53 ed.). New York: McGraw-Hill Medical. ISBN 9780071806336.
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
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* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
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* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
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Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
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* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Bigeminy | c3714585 | 7,229 | wikipedia | https://en.wikipedia.org/wiki/Bigeminy | 2021-01-18T18:33:57 | {"wikidata": ["Q184855"]} |
A number sign (#) is used with this entry because autosomal dominant Parkinson disease-4 (PARK4) is caused by heterozygous triplication of the alpha-synuclein gene (SNCA; 163890) on chromosome 4q22.
See also PD1 (168601) and Lewy body dementia (DLB; 127750), which are also caused by mutation in the SNCA gene and show overlapping phenotypes with PARK4.
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600.
Clinical Features
Spellman (1962) described a family in which multiple members in 4 generations had autosomal dominant parkinsonism beginning in their thirties and progressing rapidly to death in 2 to 12 years. This extended family was of English and German origin and later referred to as the 'Iowa kindred' (Farrer et al., 2004). Waters and Miller (1994) and Muenter et al. (1998) later described this same family in greater detail. The proposita developed parkinsonism at age 45 years and died 6 years later. She had typical features of Parkinson disease except for an absence of rest tremor, although this was present in other affected family members. Neuropathologic examination confirmed the diagnosis of Lewy body parkinsonism. The disorder was characterized by early age at onset, early weight loss, and rapidly progressive dopa-responsive parkinsonism, followed by dementia and, in some, by hypotension. Intellectual dysfunction began with subjective memory loss and objective visuospatial dysfunction and was followed by decline of frontal lobe cognitive and memory functions. Neuropathologic examination of autopsied cases showed neuronal loss in substantial nigra and locus ceruleus and widespread Lewy bodies, many of them in the cerebral cortex; those in the hypothalamus and locus ceruleus were often of bizarre shapes. Other findings were vacuolation of the temporal cortex, unusual neuronal loss, and gliosis in the hippocampus (CA 2/3), and neuronal loss in the nucleus basalis. There were no neuritic plaques, neurofibrillary tangles, or amyloid deposits. Positron emission tomography in 3 patients showed decreased striatal uptake of fluorodopa. Neurochemical analysis of an autopsied brain showed a pronounced decrease in choline acetyltransferase activity in the frontal and temporal cortices and hippocampus and a severe depletion of striatal dopamine with a pattern not typical of classic Parkinson disease.
Gwinn-Hardy et al. (2000) reported neuropathologic findings of the proband from the Iowa kindred. There was striking cortical pathology, with there were regions of spongiosis and gliosis that were also rich in many thread-like dystrophic cell processes. These were accompanied by scattered glial cells with alpha-synuclein-immunoreactive inclusions somewhat similar to glial cytoplasmic inclusions of multiple system atrophy. There were also glial inclusions in the cerebral and cerebellar white matter and in certain white matter fiber tracts, especially in the basal ganglia and basal forebrain. There were also alpha-synuclein-immunoreactive round to pleomorphic inclusions within neurons, mostly in lower cortical layers, but not showing a clear laminar predilection. The latter inclusions were consistent with cortical Lewy bodies, and the number and distribution of cortical Lewy bodies were consistent with neocortical stage of dementia with Lewy bodies (127750). Immunoblots of brain homogenates using the alpha-synuclein polyclonal antibody against patients from the Iowa kindred and normal controls and brains of other synucleinopathies revealed a 26-kD band and several other high molecular weight species only in the affected cortex of the Iowa kindred patients. This 26-kD band was not present in the substantia nigra of the Iowa kindred patients or of patients with other synucleinopathies. Gwinn-Hardy et al. (2000) noted that a point mutation in the alpha-synuclein gene had not been identified in this family.
Farrer et al. (2004) identified a family of Swedish American descent with autosomal dominant early-onset parkinsonism and dementia due to a triplication of the SNCA gene. The proband, who had onset at age 31, had rapidly progressive parkinsonism with tremor, rigidity, and bradykinesia. At age 45, he developed visual and auditory hallucinations and paranoia. He also had postural hypotonia. He later developed intellectual impairment progressing to severe dementia with mutism, followed by death at age 52 years. Postmortem examination showed severe neuronal degeneration and loss in the substantia nigra, locus ceruleus, and hippocampal areas CA 2/3. Lewy bodies were present in the hypothalamus, basal nucleus of Meynert, and the cerebral cortex. SNCA mRNA expression was increased compared to controls.
Fuchs et al. (2007) determined that the Swedish American family reported by Farrer et al. (2004) was part of the Lister family complex originally described by Mjones (1949). The Swedish American branch of the family showed early-onset, rapidly progressive parkinsonism associated with dementia and dysautonomia. Fuchs et al. (2007) identified a Swedish branch of this extended kindred in which multiple family members had late-onset parkinsonism and early dysautonomia due to a duplication of the SNCA gene (163890.0005). Genotypes within and flanking the duplicated region were identical to genotypes in the Swedish American family reported by Farrer et al. (2004) and suggested a common founder. Hybridization signals indicated a tandem multiplication of the same genomic interval in the 2 families, 1 with duplication and 1 with triplication. Sequence analysis indicated that the multiplications were mediated by centromeric and telomeric long interspersed nuclear element (LINE L1) motifs.
Mapping
Farrer et al. (1999) suggested that a locus on 4p is responsible for autosomal dominant Lewy body parkinsonism, and that postural tremor, consistent with essential tremor (190300), may be an alternate phenotype of the same pathogenic mutation that causes Lewy body parkinsonism. They studied the large family described by Waters and Miller (1994) and Muenter et al. (1998) with levodopa-responsive Lewy body parkinsonism. After performing a genome screen, they identified a chromosome 4p haplotype that segregated with the disorder; however, this haplotype also occurred in individuals in the pedigree who did not have clinical Lewy body parkinsonism but rather suffered from postural tremor.
In a second genomewide search, Singleton et al. (2003) found a haplotype cosegregating with the disease over 26 cM, with a multipoint lod score of 3.50 at marker DS42460 on chromosome 4q.
Molecular Genetics
By quantitative PCR amplification of SNCA exons in an individual with parkinsonism from the large family reported by Waters and Miller (1994), Singleton et al. (2003) found evidence consistent with whole gene triplication (163890.0003). Analysis of other family members showed that the SNCA triplication segregated with parkinsonism, but not with postural tremor. The triplicated region contains an estimated 17 genes, including SNCA. Carriers of the triplication are predicted to have 4 fully functional copies of SNCA, with doubling of the effective load of the estimated 17 genes. The authors suggested that increased dosage of SNCA is the cause of PD in this family. They noted that the disease process may resemble the etiology of Alzheimer disease (AD; 104300) in Down syndrome (190685) with overexpression of the APP gene (104760) due to chromosome 21 trisomy.
Ibanez et al. (2009) identified SNCA gene triplication in 1 (1.5%) of 22 families with atypical PD, including rapid progression and severe cognitive impairment. Genotyping and dosage analysis indicated that SNCA multiplications occurred independently. The authors concluded that alterations in SNCA gene dosage due to rearrangements may be more common than point mutations.
INHERITANCE \- Autosomal dominant GROWTH Weight \- Weight loss CARDIOVASCULAR Vascular \- Hypotension, postural, due to autonomic dysfunction NEUROLOGIC Central Nervous System \- Parkinsonism \- Dementia \- Diffuse Lewy body pathology \- Alpha-synuclein immunoreactive neuronal and glial inclusions \- Autonomic dysfunction Behavioral Psychiatric Manifestations \- Hallucinations \- Paranoia MISCELLANEOUS \- Early age of onset (approximately 45 years) \- Rapidly progressive \- Levodopa-responsive \- Phenotype range from typical Parkinson disease ( 168600 ) to dementia with Lewy bodies ( 127750 ) MOLECULAR BASIS \- Caused by triplication of the alpha-synuclein gene (SNCA, 163890.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| PARKINSON DISEASE 4, AUTOSOMAL DOMINANT | c1854182 | 7,230 | omim | https://www.omim.org/entry/605543 | 2019-09-22T16:11:23 | {"doid": ["0060895"], "mesh": ["C565324"], "omim": ["605543"], "orphanet": ["411602"], "synonyms": ["Alternative titles", "Autosomal dominant late-onset Parkinson disease", "LOPD", "PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY"]} |
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Main article: Speech and language pathology
Speech disorder/impediment
SpecialtyPsychiatry
Speech disorders or speech impediments are a type of communication disorder where 'normal' speech is disrupted. This can mean stuttering, lisps, etc. Someone who is unable to speak due to a speech disorder is considered mute.[1]
## Contents
* 1 Classification
* 1.1 Types of disorder
* 2 Causes
* 3 Treatment
* 4 Social effects
* 5 Language disorders
* 6 See also
* 7 References
* 8 External links
## Classification[edit]
Classifying speech into normal and disordered is more problematic than it first seems. By a strict classification,[citation needed] only 5% to 10% of the population has a completely normal manner of speaking (with respect to all parameters) and healthy voice; all others suffer from one disorder or another.
There are three different levels of classification when determining the magnitude and type of a speech disorder and the proper treatment or therapy:[2]
1. Sounds the patient can produce
1. Phonemic – can be produced easily; used meaningfully and constructively
2. Phonetic – produced only upon request; not used consistently, meaningfully, or constructively; not used in connected speech
2. Stimulate sounds
1. Easily stimulated
2. Stimulate after demonstration and probing (i.e. with a tongue depressor)
3. Cannot produce the sound
1. Cannot be produced voluntarily
2. No production ever observed
### Types of disorder[edit]
* Apraxia of speech may result from stroke or progressive illness, and involves inconsistent production of speech sounds and rearranging of sounds in a word ("potato" may become "topato" and next "totapo"). Production of words becomes more difficult with effort, but common phrases may sometimes be spoken spontaneously without effort.
* Cluttering, a speech and fluency disorder characterized primarily by a rapid rate of speech, which makes speech difficult to understand.
* Developmental verbal dyspraxia also known as childhood apraxia of speech.
* Dysarthria is a weakness or paralysis of speech muscles caused by damage to the nerves or brain. Dysarthria is often caused by strokes, Parkinson's disease, ALS, head or neck injuries, surgical accident, or cerebral palsy.
* Dysphasia
* Dysprosody is the rarest neurological speech disorder. It is characterized by alterations in intensity, in the timing of utterance segments, and in rhythm, cadence, and intonation of words. The changes to the duration, the fundamental frequency, and the intensity of tonic and atonic syllables of the sentences spoken, deprive an individual's particular speech of its characteristics. The cause of dysprosody is usually associated with neurological pathologies such as brain vascular accidents, cranioencephalic traumatisms, and brain tumors.[3]
* Muteness is the complete inability to speak.
* Speech sound disorders involve difficulty in producing specific speech sounds (most often certain consonants, such as /s/ or /r/), and are subdivided into articulation disorders (also called phonetic disorders) and phonemic disorders. Articulation disorders are characterized by difficulty learning to produce sounds physically. Phonemic disorders are characterized by difficulty in learning the sound distinctions of a language, so that one sound may be used in place of many. However, it is not uncommon for a single person to have a mixed speech sound disorder with both phonemic and phonetic components.
* Stuttering affects approximately 1% of the adult population.[1]
* Voice disorders are impairments, often physical, that involve the function of the larynx or vocal resonance.
## Causes[edit]
In most cases the cause is unknown. However, there are various known causes of speech impediments, such as hearing loss, neurological disorders, brain injury, an increase in mental strain, constant bullying, intellectual disability, substance use disorder, physical impairments such as cleft lip and palate, and vocal abuse or misuse.[4]
## Treatment[edit]
The examples and perspective in this article may not represent a worldwide view of the subject. You may improve this article, discuss the issue on the talk page, or create a new article, as appropriate. (December 2009) (Learn how and when to remove this template message)
Many of these types of disorders can be treated by speech therapy, but others require medical attention by a doctor in phoniatrics. Other treatments include correction of organic conditions and psychotherapy.[5]
In the United States, school-age children with a speech disorder are often placed in special education programs. Children who struggle to learn to talk often experience persistent communication difficulties in addition to academic struggles.[6] More than 700,000 of the students served in the public schools’ special education programs in the 2000–2001 school year were categorized as having a speech or language impediment. This estimate does not include children who have speech and language impairments secondary to other conditions such as deafness".[4] Many school districts provide the students with speech therapy during school hours, although extended day and summer services may be appropriate under certain circumstances.
Patients will be treated in teams, depending on the type of disorder they have. A team can include SLPs, specialists, family doctors, teachers, and family members.
## Social effects[edit]
Suffering from a speech disorder can have negative social effects, especially among young children. Those with a speech disorder can be targets of bullying because of their disorder. The bullying can result in decreased self-esteem.
## Language disorders[edit]
Language disorders are usually considered distinct from speech disorders, even though they are often used synonymously.
Speech disorders refer to problems in producing the sounds of speech or with the quality of voice, where language disorders are usually an impairment of either understanding words or being able to use words and do not have to do with speech production.[7]
## See also[edit]
* British Stammering Association
* FOXP2
* SCN3A
* KE family
* Language disorder
* List of voice disorders
* Manner of articulation
* Motor speech disorders
* Revoicer
* Speech and language pathology
* Speech and language pathology in school settings
* Speech and language assessment
* Speech perception
* Speech repetition
## References[edit]
1. ^ a b Kennison, Shelia M. (2014). Introduction to language development. Malaysia: SAGE. ISBN 978-1-4129-9606-8. OCLC 830837502.
2. ^ Deputy, Paul; Human Communication Disorders; March 10, 2008
3. ^ Pinto JA, Corso RJ, Guilherme AC, Pinho SR, Nóbrega Mde O (March 2004). "Dysprosody nonassociated with neurological diseases--a case report". J Voice. 18 (1): 90–6. doi:10.1016/j.jvoice.2003.07.005. PMID 15070228.
4. ^ a b "Disability Info: Speech and Language Disorders Fact Sheet (FS11)." National Dissemination Center for Children with Disabilities. http://www.nichcy.org/pubs/factshe/fs11txt.htm
5. ^ "Speech Defect." Encyclopedia.com. http://www.encyclopedia.com/doc/1E1-speechde.html
6. ^ Scott G. G.; O'Donnell P. J.; Sereno S. C. (2012). "Emotion words affect eye fixations during reading". Journal of Experimental Psychology: Learning, Memory, and Cognition. doi:10.1037/a0027209.
7. ^ "NICHCY's New Home". nichcy.org.
## External links[edit]
Classification
D
* ICD-10: F98.5-F98.6, R47
* ICD-9-CM: 307.0, 784.5
* MeSH: D013064
* v
* t
* e
Emotional and behavioral disorders
Emotional/behavioral
* ADHD
* Conduct disorder
* Oppositional defiant disorder
* Emotional/behavioral disorder (EBD)
* Separation anxiety
* Social functioning
* Selective mutism
* RAD
* DAD
* Tic disorders
* Tourette syndrome
* Speech disorders
* Stuttering
* Cluttering
* Stereotypic movement disorder
* Elimination disorders
* Enuresis
* Encopresis
Authority control
* GND: 4116581-0
* LCCN: sh85126439
* NDL: 00562342
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Speech disorder | c0037822 | 7,231 | wikipedia | https://en.wikipedia.org/wiki/Speech_disorder | 2021-01-18T19:04:14 | {"mesh": ["D013064"], "umls": ["C0037822"], "icd-9": ["307.0", "784.5"], "icd-10": ["R47", "F98.6", "F98.5"], "wikidata": ["Q1282114"]} |
Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Lipodermatosclerosis | c0406500 | 7,232 | gard | https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis | 2021-01-18T17:59:21 | {"mesh": ["C537026"], "umls": ["C0406500"], "synonyms": ["Acute lipodermatosclerosis", "Hypodermitis sclerodermaformis", "Sclerosing panniculitis"]} |
A number sign (#) is used with this entry because atransferrinemia is caused by homozygous or compound heterozygous mutation in the structural gene for transferrin (TF; 190000) on chromosome 3q22. Variation in the TF gene also affects serum transferrin levels.
Variation in the HFE gene (613609.0001) also affects serum transferrin levels (see TFQTL2, 614193).
Description
Atransferrinemia is characterized by microcytic anemia and by iron loading. It can be treated effectively by plasma infusions (summary by Beutler et al., 2000).
Clinical Features
Heilmeyer et al. (1961) described total absence of transferrin in a 7-year-old girl whose presenting complaint was severe hypochromic anemia. Death occurred from heart failure. Severe hemosiderosis of the heart and liver was found at autopsy. About half-normal levels of transferrin in both parents supported recessive inheritance (Goya et al., 1972).
Goya et al. (1972) described a patient with only a trace of transferrin in the blood by immunologic methods, who responded well to parenteral administration of transferrin. Hayashi et al. (1993) restudied the family reported by Goya et al. (1972). The proband showed late onset of anemia and growth retardation (at age 7 years) and was found to have a healthy brother and a sister with very low transferrin levels. Supplementary therapy with apo-TF over a period of 5 years resulted in gradual disappearance of the anemia and improvement in growth. Severe deficiency of both TF and haptoglobin were demonstrated by immunoelectrophoretic studies. Recovery from anemia and the resumption of growth were dependent, however, only on his TF level. Hayashi et al. (1993) suggested that TF values less than 10 mg/dl may result in severe growth retardation and anemia, whereas persons with more than 20 mg/dl are apparently healthy. They also suggested that coexisting haptoglobin deficiency may alleviate hemosiderosis. Study by isoelectric focusing disclosed that there was a small amount of TF variant present in all 3 sibs, and that the variant was produced by an allelic gene derived from their father. For that reason, Hayashi et al. (1993) suggested that the condition be termed hypotransferrinemia, that it is a recessive trait, and that subjects with the recessive phenotype may be compound heterozygotes of a 'variant' allele and a 'null' allele.
Westerhausen and Meuret (1977) observed an acquired (autoimmune) form of atransferrinemia.
Mapping
### Serum Transferrin Quantitative Trait Locus
Benyamin et al. (2009) provided evidence that variation in the TF gene was associated with serum transferrin levels. A genomewide association study of 411 adolescent twins and their sibs, all of European descent, demonstrated that rs1830084, located 3-prime to the TF gene, was significantly associated with serum transferrin levels (p = 1.0 x 10(-9)). A second scan on an independent sample of 459 female monozygotic twin pairs found an association with rs3811647 within intron 11 of the TF gene (p = 3 x 10(-15)). The second scan also identified 2 additional and independent SNPs in TF (rs1799852 and rs2280673) that were associated with serum transferrin levels. The known C282Y variant in the HFE gene (613609.0001) was independently associated with serum transferrin (p = 1.1 x 10(-10)). The 3 TF SNPs found in the second scan plus the HFE C282Y mutation explained about 40% of genetic variation in serum transferrin levels (p = 7.8 x 10(-25)).
Molecular Genetics
Beutler et al. (2000) stated that atransferrinemia had been reported in only 8 patients in 6 families. They reported the first known case in the United States and identified compound heterozygous mutations in the TF gene (190000.0006-190000.0007).
Animal Model
Craven et al. (1987) studied hypotransferrinemia in the mouse. The tissue distribution of iron overload was similar to that in hemochromatosis; the hypotransferrinemic mice accumulated iron in the liver and pancreas. The authors suggested that hereditary hemochromatosis (235200) and congenital atransferrinemia in man are one and the same disease and that they are associated with subnormal concentration of plasma apo-transferrin. Inasmuch as the transferrin locus maps to chromosome 3 and the hemochromatosis locus to chromosome 6, the suggestion that the atransferrinemic mouse is a model of hemochromatosis cannot be extended to the level of the gene.
Cardiovascular \- Congestive heart failure \- Hemosiderosis, heart Inheritance \- Autosomal recessive Liver \- Hemosiderosis Lab \- Transferrin absent Heme \- Anemia, hypochromic ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| ATRANSFERRINEMIA | c0521802 | 7,233 | omim | https://www.omim.org/entry/209300 | 2019-09-22T16:30:38 | {"doid": ["0050649"], "mesh": ["C538259"], "omim": ["209300"], "orphanet": ["1195"], "synonyms": ["Alternative titles", "HYPOTRANSFERRINEMIA, FAMILIAL"]} |
Ladda et al. (1993) described the cases of 2 brothers with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal, and molecular studies using DNA markers showed no evidence of submicroscopic deletion from the Xq12-q13 region, where the locus for hypohidrotic ectodermal dysplasia is situated. The parents and a sister were normal.
Neuro \- Psychomotor retardation Inheritance \- X-linked Joints \- Severe congenital contractures Lab \- Normal chromosomes Growth \- Growth retardation Mouth \- Cleft lip/palate Skin \- Ectodermal dysplasia ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY | c1844935 | 7,234 | omim | https://www.omim.org/entry/301815 | 2019-09-22T16:18:45 | {"mesh": ["C535465"], "omim": ["301815"], "orphanet": ["1484"]} |
Lung disease
Eosinophilic pneumonia
SpecialtyRespirology
Eosinophilic pneumonia is a disease in which an eosinophil, a type of white blood cell, accumulates in the lungs. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. Several different kinds of eosinophilic pneumonia exist and can occur in any age group. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. Eosinophilic pneumonia is diagnosed by a combination of characteristic symptoms, findings on a physical examination by a health provider, and the results of blood tests and X-rays. Prognosis is excellent once most eosinophilic pneumonia is recognized and treatment with corticosteroids is begun.
## Contents
* 1 Classification
* 2 Signs and symptoms
* 3 Pathophysiology
* 3.1 Medications and environmental exposures
* 3.2 Parasitic infections
* 3.3 Acute and Chronic Eosinophilic Pneumonia
* 4 Diagnosis
* 4.1 Differential diagnosis
* 5 Treatment
* 6 Prognosis
* 7 Epidemiology
* 7.1 History
* 8 See also
* 9 References
* 10 External links
## Classification[edit]
Eosinophilic pneumonia is divided into different categories depending upon whether its cause can be determined or not. Known causes include certain medications or environmental triggers, parasitic infections, and cancer. Eosinophilic pneumonia can also occur when the immune system attacks the lungs, a disease called eosinophilic granulomatosis with polyangiitis. When a cause cannot be found, the eosinophilic pneumonia is termed "idiopathic". Idiopathic eosinophilic pneumonia can also be divided into acute and chronic forms, depending on the symptoms a person is experiencing.[1]
## Signs and symptoms[edit]
Most types of eosinophilic pneumonia have similar signs and symptoms. Prominent and nearly universal signs and symptoms include cough, fever, difficulty breathing, and night sweats. Acute eosinophilic pneumonia typically follows a rapid course. Fever and cough may develop only one or two weeks before breathing difficulties progress to the point of respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia usually follows a slower course. Symptoms accumulate over several months and include fever, cough, difficulty breathing, wheezing, and weight loss. Individuals with chronic eosinophilic pneumonia are often misdiagnosed with asthma before the correct diagnosis is made.
Eosinophilic pneumonia due to medications or environmental exposures is similar and occurs after an exposure to a known offending agent. Eosinophilic pneumonia due to parasitic infections has a similar prodrome in addition to a host of different symptoms related to the variety of underlying parasites. Eosinophilic pneumonia in the setting of cancer often develops in the context of a known diagnosis of lung cancer, cervical cancer, or other certain types of cancer.
## Pathophysiology[edit]
Eosinophilic pneumonia can develop in several different ways depending on the underlying cause of the disease. Eosinophils play a central role in defending the body against infection by parasites. Many diseases, such as asthma and eczema, are caused when eosinophils overreact to environmental triggers and release an excess of chemicals, e.g., cytokines and histamine. The common characteristic among different causes of eosinophilic pneumonia is eosinophil overreaction or dysfunction in the lungs.
### Medications and environmental exposures[edit]
Medications, substance abuse, and environmental exposures may all trigger eosinophil dysfunction. Medications such as nonsteroidal anti-inflammatory drugs (e.g., ibuprofen), nitrofurantoin, phenytoin, L-tryptophan, daptomycin[2] and ampicillin, and drugs of abuse such as inhaled heroin and cocaine may trigger an allergic response which results in eosinophilic pneumonia. Chemicals such as sulfites, aluminum silicate, and cigarette smoke can cause eosinophilic pneumonia when inhaled. A New York City firefighter developed eosinophilic pneumonia after inhalation of dust from the World Trade Center on September 11, 2001.[3]
### Parasitic infections[edit]
Parasites cause eosinophilic pneumonia in three different ways. Parasites can either invade the lungs, live in the lungs as part of their life cycle, or be spread to the lungs by the bloodstream. Eosinophils then migrate to the lungs in order to fight the parasites, and cause eosinophilic pneumonia when they release their contents. Important parasites that invade the lungs include Paragonimus lung flukes and the tapeworms Echinococcus and Taenia solium. Important parasites which inhabit the lungs as part of their normal life cycle include the worms (helminths) Ascaris lumbricoides, Strongyloides stercoralis and the hookworms Ancylostoma duodenale and Necator americanus. When eosinophilic pneumonia is caused by helminths, it is often called "Löffler's syndrome". The final group of parasites cause eosinophilic pneumonia when their eggs are carried into the lungs by the bloodstream. This can include Trichinella spiralis, Strongyloides stercoralis, Ascaris lumbricoides, the hookworms, and the schistosomes.[4]
### Acute and Chronic Eosinophilic Pneumonia[edit]
The causes for both acute and chronic eosinophilic pneumonia are unknown as of 2005. There is some suspicion that at least the acute form is the result of the body's response to some unidentified environmental agent.
## Diagnosis[edit]
Eosinophilic pneumonia is diagnosed in one of three circumstances: when a complete blood count reveals increased eosinophils and a chest X-ray or computed tomography identifies abnormalities in the lungs, when a biopsy identifies increased eosinophils in lung tissue, or when increased eosinophils are found in fluid obtained by a bronchoscopy (bronchoalveolar lavage fluid). Association with medication or cancer is usually apparent after review of a person's medical history. Specific parasitic infections are diagnosed after examining a person's exposure to common parasites and performing laboratory tests to look for likely causes. If no underlying cause is found, a diagnosis of acute or chronic eosinophilic pneumonia is made based upon the following criteria. Acute eosinophilic pneumonia is most likely with respiratory failure after an acute febrile illness of usually less than one week, changes in multiple areas and fluid in the area surrounding the lungs on a chest X-ray, and eosinophils comprising more than 25% of white blood cells in fluid obtained by bronchoalveolar lavage. Other typical laboratory abnormalities include an elevated white blood cell count, erythrocyte sedimentation rate, and immunoglobulin G level. Pulmonary function testing usually reveals a restrictive process with reduced diffusion capacity for carbon monoxide. Chronic eosinophilic pneumonia is most likely when the symptoms have been present for more than a month. Laboratory tests typical of chronic eosinophilic pneumonia include increased levels of eosinophils in the blood, a high erythrocyte sedimentation rate, iron deficiency anemia, and increased platelets. A chest X-ray can show abnormalities anywhere, but the most specific finding is increased shadow in the periphery of the lungs, away from the heart.
### Differential diagnosis[edit]
This includes:
* Asthma
* Environmental allergic reaction
* Granulomatosis with polyangiitis
* Allergic bronchopulmonary aspergillosis
* Churg-Strauss syndrome
* Loeffler's syndrome
* Acute eosinophilic pneumonia
* Chronic eosinophilic pneumonia (Carrington's disease)
* Polyarteritis nodosa
* Parasitic infections
* Tropical pulmonary eosinophilia
* Tuberculosis
* Fungal infection
* Sarcoidosis
* Drug reaction with eosinophilia and systemic symptoms
* Mastocytosis
* Lymphoproliferative hypereosinophilic syndrome
* Myeloproliferative hypereosinophilic syndrome
## Treatment[edit]
When eosinophilic pneumonia is related to an illness such as cancer or parasitic infection, treatment of the underlying cause is effective in resolving the lung disease. When due to acute or chronic eosinophilic pneumonia, however, treatment with corticosteroids results in a rapid, dramatic resolution of symptoms over the course of one or two days. Either intravenous methylprednisolone or oral prednisone are most commonly used. In acute eosinophilic pneumonia, treatment is usually continued for a month after symptoms disappear and the X-ray returns to normal (usually four weeks total). In chronic eosinophilic pneumonia, treatment is usually continued for three months after symptoms disappear and the X-ray returns to normal (usually four months total). Inhaled steroids such as fluticasone have been used effectively when discontinuation of oral prednisone has resulted in relapse.[5] Because eosinophilic pneumonia affects the lungs, individuals develop difficulty breathing. If enough of the lungs are involved, it may not be possible for a person to breathe without support. Non-invasive machines such as a bilevel positive airway pressure machine may be used. Otherwise, placement of a breathing tube into the mouth may be necessary and a ventilator may be used to help the person breathe.
## Prognosis[edit]
Eosinophilic pneumonia due to cancer or parasitic infection carries a prognosis related to the underlying illness. Acute and chronic eosinophilic pneumonia, however, have very little associated mortality as long as intensive care is available and treatment with corticosteroids is given. Chronic eosinophilic pneumonia often relapses when prednisone is stopped; therefore, some people require lifelong therapy. Long-term use of prednisone has many side effects, including increased infections, osteoporosis, stomach ulcers, Cushing's syndrome, and changes in appearance.[6]
## Epidemiology[edit]
Eosinophilic pneumonia is a rare disease. Parasitic causes are most common in geographic areas where each parasite is endemic. Acute eosinophilic pneumonia can occur at any age, even in previously healthy children, though most patients are between 20 and 40 years of age. Men are affected approximately twice as frequently as women. Acute eosinophilic pneumonia has been associated with smoking. Chronic eosinophilic pneumonia occurs more frequently in women than men and does not appear to be related to smoking. An association with radiation for breast cancer has been described.[7]
### History[edit]
Chronic eosinophilic pneumonia was first described by Carrington[8] in 1969, and it is also known as Carrington syndrome. Prior to that, eosinophilic pneumonia was a well-described pathologic entity usually associated with medication or parasite exposures. Acute eosinophilic pneumonia was first described in 1989.[9][10]
## See also[edit]
* Asthma
* Parasitic pneumonia
* Pneumonia
## References[edit]
1. ^ Bain GA, Flower CD (1996). "Pulmonary eosinophilia". European Journal of Radiology. 23 (1): 3–8. doi:10.1016/0720-048X(96)01029-7. PMC 1574763. PMID 8872069.
2. ^ Research, Center for Drug Evaluation and. "Postmarket Drug Safety Information for Patients and Providers - FDA Drug Safety Communication: Eosinophilic pneumonia associated with the use of Cubicin (daptomycin)". www.fda.gov.
3. ^ Rom WN, Weiden M, Garcia R, et al. (2002). "Acute eosinophilic pneumonia in a New York City firefighter exposed to World Trade Center dust". American Journal of Respiratory and Critical Care Medicine. 166 (6): 797–800. doi:10.1164/rccm.200206-576OC. PMID 12231487.
4. ^ Weller PF (1994). "Parasitic pneumonias". In Pennington, James (ed.). Respiratory infections: diagnosis and management (3rd ed.). New York: Raven Press. p. 695. ISBN 0-7817-0173-2.
5. ^ Jantz MA, Sahn SA (1999). "Corticosteroids in acute respiratory failure". American Journal of Respiratory and Critical Care Medicine. 160 (4): 1079–100. doi:10.1164/ajrccm.160.4.9901075. PMID 10508792.
6. ^ Naughton M, Fahy J, FitzGerald MX (1993). "Chronic eosinophilic pneumonia. A long-term follow-up of 12 patients". Chest. 103 (1): 162–5. doi:10.1378/chest.103.1.162. PMID 8031327.
7. ^ Cottin V, Frognier R, Monnot H, Levy A, DeVuyst P, Cordier JF (2004). "Chronic eosinophilic pneumonia after radiation therapy for breast cancer". European Respiratory Journal. 23 (1): 9–13. doi:10.1183/09031936.03.00071303. PMID 14738224.
8. ^ Carrington CB, Addington WW, Goff AM, et al. (1969). "Chronic eosinophilic pneumonia". New England Journal of Medicine. 280 (15): 787–98. doi:10.1056/NEJM196904102801501. PMID 5773637.
9. ^ Badesch DB, King TE, Schwarz MI (1989). "Acute eosinophilic pneumonia: a hypersensitivity phenomenon?". American Review of Respiratory Disease. 139 (1): 249–52. doi:10.1164/ajrccm/139.1.249. PMID 2912347.
10. ^ Allen JN, Pacht ER, Gadek JE, Davis WB (1989). "Acute eosinophilic pneumonia as a reversible cause of noninfectious respiratory failure". New England Journal of Medicine. 321 (9): 569–74. doi:10.1056/NEJM198908313210903. PMID 2761601.
## External links[edit]
Classification
D
* ICD-10: J82
* ICD-9-CM: 518.3
* MeSH: D011657
External resources
* MedlinePlus: 000105
* v
* t
* e
Allergic conditions
Respiratory system
* Allergic rhinitis (hay fever)
* Asthma
* Hypersensitivity pneumonitis
* Eosinophilic pneumonia
* Eosinophilic granulomatosis with polyangiitis
* Allergic bronchopulmonary aspergillosis
* Farmer's lung
* Laboratory animal allergy
Skin
* Angioedema
* Urticaria
* Atopic dermatitis
* Allergic contact dermatitis
* Hypersensitivity vasculitis
Blood and immune system
* Serum sickness
Circulatory system
* Anaphylaxis
Digestive system
* Coeliac disease
* Eosinophilic gastroenteritis
* Eosinophilic esophagitis
* Food allergy
* Egg allergy
* Milk intolerance
Nervous system
* Eosinophilic meningitis
Genitourinary system
* Acute interstitial nephritis
Other conditions
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* Latex allergy
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
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nose
Rhinitis
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nasal septum
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(including LRTIs)
Bronchial/
obstructive
acute
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chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
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Aspirin-induced
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unspecified
Bronchitis
Bronchiolitis
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Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
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Bagassosis
Bird fancier's lung
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Lycoperdonosis
Other
* ARDS
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Obstructive / Restrictive
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Pneumonias caused by
infectious or noninfectious agents
* Aspiration pneumonia
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Noninfectious pneumonia
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Eosinophilic pneumonia | c1527407 | 7,235 | wikipedia | https://en.wikipedia.org/wiki/Eosinophilic_pneumonia | 2021-01-18T18:40:41 | {"gard": ["107"], "mesh": ["D011657"], "umls": ["C1527407"], "wikidata": ["Q32540"]} |
A number sign (#) is used with this entry because mutations in several genes are associated with lung cancer. Both germline and somatic mutations have been identified in the EGFR (131550) and p53 (TP53; 191170) genes, and somatic mutations have been identified in the KRAS (190070), BRAF (164757), ERBB2 (164870), MET (164860), STK11 (602216), PIK3CA (171834), and PARK2 (602544) genes. Amplification of several genes, including EGFR, ERBB2, MET, PIK3CA, and NKX2-1 (600635), is also associated with lung cancer. Deletion of several genes, including DOK2 (604977), is also associated with lung cancer. An ALK/EML4 fusion gene (see 105590) has been identified in lung cancer. Several polymorphisms are associated with lung cancer susceptibility, including a 5-prime SNP in the ERCC6 gene (609413) and SNPs in the nicotinic acetylcholine receptor gene cluster on chromosome 15q25.1 (see LNCR2; 612052). Lung cancer susceptibility loci have been mapped to chromosome 6q23-q25 (LNCR1; 608935), 5p15 (LNCR3; 612571), 6p21 (LNCR4; 612593), and 3q28 (LNCR5; 614210). Deletion alleles in the CYP2A6 (122720) and CASP8 (601763) genes are associated with a reduced risk of lung cancer in Japanese and Han Chinese individuals, respectively. A SNP in the MPO gene (606989) is associated with reduced risk of lung cancer in smokers.
Description
Lung cancer is the leading cause of cancer deaths in the U.S. and worldwide. The 2 major forms of lung cancer are nonsmall cell lung cancer and small cell lung cancer (see 182280), which account for 85% and 15% of all lung cancers, respectively. Nonsmall cell lung cancer can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. Cigarette smoking causes all types of lung cancer, but it is most strongly linked with small cell lung cancer and squamous cell carcinoma. Adenocarcinoma is the most common type in patients who have never smoked. Nonsmall cell lung cancer is often diagnosed at an advanced stage and has a poor prognosis (summary by Herbst et al., 2008).
Clinical Features
Joishy et al. (1977) described identical twins who developed symptoms of alveolar cell carcinoma almost simultaneously.
Ahrendt et al. (2001) noted that incidence rates for squamous cell and small cell lung carcinoma began falling among males in the mid-1980s, but a decline in the incidence of primary adenocarcinoma of the lung among males was not observed until 5 to 10 years later. Similarly, although the incidence rates of squamous cell, large cell, and small cell lung carcinoma among women leveled off or started to decrease, the incidence of adenocarcinoma continued to increase. With these changes in the incidence among the different histologic types of lung carcinoma over the 1990s, adenocarcinoma of the lung became the most common type of lung carcinoma in the U.S. (Wingo et al., 1999).
Inheritance
Braun et al. (1994) conducted a genetic analysis of lung cancer mortality in the National Academy of Sciences/National Research Council Twin Registry. The registry is composed of 15,924 male twin pairs who were born in the U.S. between 1917 and 1927 and who served in the armed forces during World War II. As evidence for a genetic effect on lung cancer, they required concordance for lung cancer death to be greater among monozygotic than among dizygotic twin pairs. No genetic effect on lung cancer mortality was observed. The ratio of observed to expected concordance among monozygotic twins did not exceed that among dizygotic twins, even though monozygotic twin pairs were more likely to be concordant for smoking than dizygotic twin pairs in this population. A cohort analysis (accounting for age, sex, race, and smoking intensity) of lung cancer mortality found no lung cancer deaths during the 300 person-years of follow-up among 47 monozygotic twins smokers whose smoking twin died of lung cancer, even though smoking histories were very similar within twin pairs.
In a multicenter study of lung cancer in lifetime nonsmokers in the United States, 646 female lung cancer patients and 1,252 population controls were interviewed regarding history of cancer in their first-degree relatives. Wu et al. (1996) summarized the findings. A 30% increased risk was associated with a history of respiratory tract cancer in parents or sibs after adjustment for exposure to environmental tobacco smoke in adult life. Lung cancer, which represented approximately two-thirds of the respiratory tract cancers, occurred more frequently in first-degree relatives of lung cancer patients than in comparable relatives of population controls. A significant 3-fold increased risk for lung cancer was associated with lung cancer diagnosed in mothers and sisters. Wu et al. (1996) also observed the increased risk in relation to family history of lung cancer among parents and sibs who were smokers as well as in those who were nonsmokers. The association with family history of lung cancer was strengthened when the analysis was restricted to adenocarcinoma of the lung. However, the authors pointed out that there was no association between family history of other cancers and risk of lung cancer in nonsmokers.
Population Genetics
Haiman et al. (2006) investigated differences in the risk of lung cancer associated with cigarette smoking in 183,813 African American, Japanese American, Latino, Native Hawaiian, and white men and women. Their analysis included 1,979 cases of incident lung cancer identified prospectively over an 8-year period. They found that among cigarette smokers, African Americans and Native Hawaiians are more susceptible to lung cancer than whites, Japanese Americans, and Latinos. Risch (2006) discussed the problems of dissecting racial and ethnic differences in relation to the frequency of disease. He stated that it is 'difficult to discuss the role of genetics in differences among groups, because of the fear that such discourse may reinforce notions of biologic determinism. Some insist that racial and ethnic categories are purely social and devoid of genetic content, or at least of minimal relevance.'
Pathogenesis
In the DNA from 1 colon and 2 lung carcinoma cell lines, Perucho et al. (1981) demonstrated the same or closely related transforming elements. By DNA-mediated gene transfer, mouse fibroblasts could be morphologically transformed and rendered tumorigenic in nude mice.
Starting from studies of lung adenocarcinomas, Ramaswamy et al. (2003) explored the molecular differences between human primary tumors and metastases by comparing their gene expression profiles. They found a 17-gene-expression signature that distinguished primary from metastatic adenocarcinomas. Notably, they found that a subset of primary tumors resembled metastatic tumors with respect to this gene-expression signature. They confirmed their findings by applying the expression signature to data on 279 primary solid tumors of diverse types. They found that solid tumors carrying the gene-expression signature were most likely to be associated with metastasis and poor clinical outcome (P less than 0.03). These results suggested that the metastatic potential of human tumors is encoded in the bulk of a primary tumor, thus challenging the notion that metastases arise from rare cells within a primary tumor that have the ability to metastasize. The results supported the idea that some primary tumors are preconfigured to metastasize, and that this propensity is detectable at the time of initial diagnosis.
A considerable proportion of the refined gene-expression signature that Ramaswamy et al. (2003) found to be associated with metastasis seemed to be derived from nonepithelial components of the tumor. Specifically, these included genes encoding the type 1 collagens (COL1A1, 120150; COL1A2, 120160) whose expression is restricted to fibroblasts. Some of the 17 genes constituting the signature were upregulated in metastases, others were downregulated. The upregulation of collagen genes in primary tumors with metastatic potential is consistent with observations that epithelial-mesenchymal interactions are critical determinants of tumor cell behavior. High levels of type 1 collagen in metastatic lesions and in the serum of individuals with metastatic disease have been reported. In general, the findings were consistent with the existence of a molecular program of metastasis that is shared by multiple solid-tumor types, suggesting the possible existence of therapeutic targets common to different cancers.
Brock et al. (2008) analyzed methylation of 7 genes in tumor tissue and lymph nodes from 51 patients with stage I nonsmall cell lung cancer (NSCLC) who underwent curative resection but had a recurrence within 40 months and from 116 age-, sex-, NSCLC stage-, and date of surgery-matched patients who underwent curative resection and did not have a recurrence within 40 months. In a multivariate model, the authors found that promoter methylation of the CDKN2A (600160), CDH13 (601364), RASSF1A (605082), and APC (611731) genes in tumors and in histologically tumor-negative lymph nodes was associated with tumor recurrence, independently of NSCLC stage, age, sex, race, smoking history, and histologic characteristics of the tumor. Methylation of the promoter regions of CDKN2A and CDH13 in both tumor and mediastinal lymph nodes was associated with an odds ratio of recurrent cancer of 15.50 in the original cohort and an OR of 25.25 when the original cohort was combined with an independent validation cohort of 20 patients with stage I NSCLC.
Winslow et al. (2011) modeled human lung adenocarcinoma, which frequently harbors activating point mutations in KRAS (190070) and inactivation of the p53 (191170) pathway, using conditional alleles in mice. Lentiviral-mediated somatic activation of oncogenic Kras and deletion of p53 in the lung epithelial cells of Kras(LSL-G12D/+);p53(flox/flox) mice initiates lung adenocarcinoma development. Although tumors are initiated synchronously by defined genetic alterations, only a subset becomes malignant, indicating that disease progression requires additional alterations. Identification of the lentiviral integration sites allowed Winslow et al. (2011) to distinguish metastatic from nonmetastatic tumors and determine the gene expression alterations that distinguish these tumor types. Cross-species analysis identified the NK2-related homeobox transcription factor Nkx2-1 (600635) as a candidate suppressor of malignant progression. In this mouse model, Nkx2-1 negativity is pathognomonic of high-grade poorly differentiated tumors. Gain- and loss-of-function experiments in cells derived from metastatic and nonmetastatic tumors demonstrated that Nkx2-1 controls tumor differentiation and limits metastatic potential in vivo. Interrogation of Nkx2-1-regulated genes, analysis of tumors at defined developmental stages, and functional complementation experiments indicated that Nkx2-1 constrains tumors in part by repressing the embryonically restricted chromatin regulator Hmga2 (600698). Whereas focal amplification of NKX2-1 in a fraction of human lung adenocarcinomas had focused attention on its oncogenic function, Winslow et al. (2011) stated that their data specifically linked Nkx2-1 downregulation to loss of differentiation, enhanced tumor seeding ability, and increased metastatic proclivity. Winslow et al. (2011) concluded that the oncogenic and suppressive functions of Nkx2-1 in the same tumor type substantiate its role as a dual function lineage factor.
De Bruin et al. (2014) sequenced 25 spatially distinct regions from 7 operable NSCLCs and found evidence of branched evolution, with driver mutations arising before and after subclonal diversification. There was pronounced intratumor heterogeneity in copy number alterations, translocations, and mutations associated with APOBEC (see 600130) cytidine deaminase activity. Despite maintained carcinogen exposure, tumors from smokers showed a relative decrease in smoking-related mutations over time, accompanied by an increase in APOBEC-associated mutations. In tumors from former smokers, genome doubling occurred within a smoking-signature context before subclonal diversification, which suggested that a long period of tumor latency had preceded clinical detection. De Bruin et al. (2014) concluded that regionally separated driver mutations, coupled with the relentless and heterogeneous nature of the genome instability processes, are likely to confound treatment success in NSCLC.
Zhang et al. (2014) applied multiregion whole-exome sequencing to 11 localized lung adenocarcinomas. All tumors showed clear evidence of intratumor heterogeneity. On average, 76% of all mutations and 20 out of 21 known cancer gene mutations were identified in all regions of individual tumors, which suggested that single-region sequencing may be adequate to identify the majority of known cancer gene mutations in localized lung adenocarcinomas. With a median follow-up of 21 months after surgery, 3 patients had relapsed, and all 3 had significantly larger fractions of subclonal mutations in their primary tumors than patients without relapse. Zhang et al. (2014) concluded that a larger subclonal mutation fraction may be associated with increased likelihood of postsurgical relapse in patients with localized lung adenocarcinomas.
### Reviews of Lung Cancer Pathogenesis
Herbst et al. (2008) reviewed lung cancer with a focus on the origins and biology of squamous cell carcinoma and adenocarcinoma, which constitute the majority of diagnosed lung cancers.
Clinical Management
In a multiinstitutional phase II trial, Fukuoka et al. (2003) found a higher rate of response to the tyrosine kinase inhibitor gefitinib (Iressa) in Japanese patients with nonsmall cell lung cancer (NSCLC) than in a predominantly European-derived population (27.5% vs 10.4%). See 'EGFR Mutations and Lung Cancer' in MOLECULAR GENETICS for information on EGFR (131550) mutations associated with gefitinib-responsive lung cancer.
In a randomized control trial of 1,217 East Asian patients with nonsmall cell lung cancer, Mok et al. (2009) found that the 12-month rate of progression-free survival was 24.9% in patients treated with gefitinib and 6.7% in those treated with carboplatin-paclitaxel. In the subgroup of 261 patients who were positive for an EGFR mutation, progression-free survival was significantly longer among those who received gefitinib than among those who received carboplatin-paclitaxel, whereas in the subgroup of 176 patients who were negative for a mutation, progression-free survival was significantly longer among those who received carboplatin-paclitaxel. The findings indicated that gefitinib is superior to carboplatin-paclitaxel as an initial treatment for pulmonary adenocarcinoma among nonsmokers or former light smokers in East Asia, and showed that the presence in the tumor of an EGFR mutation is a strong predictor of a better outcome with gefitinib.
Rosell et al. (2009) concluded that large-scale screening of patients with lung cancer for EGFR mutations is feasible and can have a role in treatment decisions. EGFR mutations were identified in tumor tissue of 350 (16.6%) of 2,105 Spanish patients with nonsmall cell lung cancer. Mutations were more frequent in women (69.7%), in patients who had never smoked (66.6%), and in those with adenocarcinomas (80.9%). The mutations were deletions in exon 19 (62.2%) and L858R (131550.0002) (37.8%). Median progression-free survival and overall survival for 217 patients who received erlotinib were 14 months and 27 months, respectively. Multivariate analysis showed an association between poor progression-free survival and male sex (hazard ratio of 2.94), and the presence of the L858R mutation (hazard ratio of 1.92) as compared with a deletion in exon 19. The most common adverse events were mild rashes and diarrhea. The results suggested that EGFR-mutant lung cancer is a distinct class of nonsmall cell lung cancer.
Bivona et al. (2011) used a pooled RNAi screen to show that knockdown of FAS (134637) and several components of the NF-kappa-B pathway (see 164011) specifically enhanced cell death induced by the EGFR (131550) tyrosine kinase inhibitor (TKI) erlotinib in EGFR-mutant lung cancer cells. Activation of NF-kappa-B through overexpression of c-FLIP (603599) or IKK (603258), or silencing of I-kappa-B (see 164008), rescued EGFR-mutant lung cancer cells from EGFR TKI treatment. Genetic or pharmacologic inhibition of NF-kappa-B enhanced erlotinib-induced apoptosis in erlotinib-sensitive and erlotinib-resistant EGFR-mutant lung cancer models. Increased expression of the NF-kappa-B inhibitor I-kappa-B predicted improved response and survival in EGFR-mutant lung cancer patients treated with EGFR TKI. Bivona et al. (2011) concluded that their data identified NF-kappa-B as a potential companion drug target, together with EGFR, in EGFR-mutant lung cancers and provided insight into the mechanisms by which tumor cells escape from oncogene dependence.
Zhang et al. (2012) reported increased activation of AXL (109135) and evidence for epithelial-to-mesenchymal transition (EMT) in multiple in vitro and in vivo EGFR-mutant lung cancer models with acquired resistance to erlotinib in the absence of the EGFR T790M alteration (131550.0006) or MET activation. Genetic or pharmacologic inhibition of AXL restored sensitivity to erlotinib in these tumor models. Increased expression of AXL and, in some cases, of its ligand GAS6 (600441) was found in EGFR-mutant lung cancers obtained from individuals with acquired resistance to tyrosine kinase inhibitors.
Mapping
In 3 varieties of nonsmall cell cancer of the lung, Weston et al. (1989) found evidence of loss of heterozygosity in chromosome 17p and chromosome 11. Only a minority had loss of heterozygosity involving a chromosomal locus on 3p previously shown to be lost consistently in small cell cancer of the lung (SCLC1; 182280).
Dai et al. (2003) used restriction landmark genomic scanning (RLGS) to identify novel amplified sequences in primary lung carcinomas and lung cancer cell lines. Enhanced RLGS fragments indicative of gene amplification were observed in tumors and cell lines of both nonsmall cell lung cancer and small cell lung cancer. The authors identified a novel amplicon on chromosome 11q22, in addition to previously reported amplicons that include oncogenes MYC (190080), MYCL1 (164850), and previously identified amplification of chromosomal regions 6q21 and 3q26-27. The amplified region of 11q22 was refined to 0.92 Mb in 1 patient sample. Immunohistochemistry and Western blot analysis identified CIAP1 (BIRC2; 601712) and CIAP2 (BIRC3; 601721) as potential oncogenes in this region, since both are overexpressed in multiple lung cancers with or without higher copy numbers.
Bailey-Wilson et al. (2004) mapped a major lung cancer susceptibility locus to chromosome 6q23-q25 (LNCR1; 608935).
Molecular Genetics
Ding et al. (2008) sequenced 623 genes with known or potential relationship to cancer in 188 human lung adenocarcinomas. Their analysis identified 26 genes that are mutated at significantly high frequencies and are probably involved in carcinogenesis. The frequently mutated genes include tyrosine kinases, among them the EGFR homolog ERBB4 (600543); multiple ephrin receptor genes, notably EPHA3 (179611); KDR (191306); and NTRK (191315). Their data provide evidence of somatic mutations in primary lung adenocarcinoma for several tumor suppressor genes involved in other cancers, including NF1 (613113), APC (611731), RB1 (614041), and ATM (607585), and for sequence changes in PTPRD (601598) as well as the frequently deleted gene LRP1B (608766). The observed mutational profiles correlate with clinical features, smoking status, and DNA repair defects. In general, Ding et al. (2008) found that genetic alterations in lung adenocarcinoma frequently occur in genes of the MAPK (see 176948), p53 (191170), WNT (see 164820), cell cycle, and mTOR (601231) signaling pathways.
In affected members of 2 families with idiopathic pulmonary fibrosis (178500), some of whom also had lung cancer, Wang et al. (2009) identified 2 heterozygous missense mutations in the SFTPA2 gene (see 178642.0001 and 178642.0002, respectively).
Kan et al. (2010) reported the identification of 2,576 somatic mutations across approximately 1,800 megabases of DNA representing 1,507 coding genes from 441 tumors comprising breast, lung, ovarian, and prostate cancer types and subtypes. Kan et al. (2010) found that mutation rates and the sets of mutated genes varied substantially across tumor types and subtypes. Statistical analysis identified 77 significantly mutated genes including protein kinases, G protein-coupled receptors such as GRM8 (601116), BAI3 (602684), AGTRL1 (600052), and LPHN3, and other druggable targets. Integrated analysis of somatic mutations and copy number alterations identified another 35 significantly altered genes including GNAS (see 139320), indicating an expanded role for G-alpha subunits in multiple cancer types. Experimental analyses demonstrated the functional roles of mutant GNAO1 (139311) and mutant MAP2K4 (601335) in oncogenesis.
The Cancer Genome Atlas Research Network (2012) profiled 178 lung squamous cell carcinomas to provide a comprehensive landscape of genomic and epigenomic alterations, and showed that the tumor type is characterized by complex genomic alterations with a mean of 360 exonic mutations, 165 genomic rearrangements, and 323 segments of copy number alteration per tumor. The Cancer Genome Atlas Research Network (2012) found statistically recurrent mutations in 11 genes, including mutations in TP53 in nearly all specimens. Previously unreported loss-of-function mutations were seen in the HLA-A class I major histocompatibility gene (142800). Significantly altered pathways included NFE2L2 (600492) and KEAP1 (606016) in 34%, squamous differentiation genes in 44%, phosphatidylinositol-3-OH kinase pathway genes in 47%, and CDKN2A (600160) and RB1 (614041) in 72% of tumors. The Cancer Genome Atlas Research Network (2012) identified a potential therapeutic target in most tumors, offering new avenues of investigation for the treatment of squamous cell lung cancers.
The Cancer Genome Atlas Research Network (2014) reported molecular profiling of 230 resected lung adenocarcinomas using mRNA, microRNA, and DNA sequencing integrated with copy number, methylation, and proteomic analyses. High rates of somatic mutation were observed (mean 8.9 mutations per megabase). Eighteen genes were statistically significantly mutated, including RIT1 (609591) with activating mutations and MGA (616061) with loss-of-function mutations that were mutually exclusive with focal MYC amplification. EGFR (131550) mutations were more frequent in female patients, whereas mutations in RBM10 (300080) were more common in males. Aberrations in NF1 (613113), MET (164860), ERBB2 (164870), and RIT1 occurred in 13% of cases and were enriched in samples otherwise lacking an activated oncogene, suggesting a driver role for these events in certain tumors. DNA and mRNA sequences from the same tumor highlighted splicing alterations driven by somatic genomic changes, including exon 14 skipping in MET mRNA in 4% of cases. MAPK (see 176948) and PI3K (see 601232) pathway activity, when measured at the protein level, was explained by known mutations in only a fraction of cases, suggesting additional, unexplained mechanisms of pathway activation.
### p53 Mutations and Lung Cancer
Among members of 97 families enrolled in a cohort study of families ascertained through childhood soft tissue sarcoma patients, Hwang et al. (2003) studied the role of cigarette smoking and lung cancer risk in people with a genetic susceptibility based on a p53 germline mutation. They assessed the incidence of lung and smoking-related cancers in 33 carriers of germline p53 mutations and in 1,230 noncarriers from the same families. They observed an increased risk of a variety of histologic types of lung cancer in the carriers of the p53 mutations. Mutation carriers who smoked had a 3.16-fold (95% CI = 1.48-6.78) higher risk for lung cancer than the mutation carriers who did not smoke.
### EGFR Mutations and Lung Cancer
In tumors from patients with NSCLC responsive to the tyrosine kinase inhibitor gefitinib, Lynch et al. (2004) and Paez et al. (2004) identified mutations in the EGFR gene (131550.0001-131550.0005). Paez et al. (2004) found somatic mutations in EGFR in 15 of 58 unselected NSCLC tumors from Japan and 1 of 61 from the United States. EGFR mutations showed a striking correlation with patient characteristics. Mutations were more frequent in adenocarcinomas than in other NSCLCs, being present in 15 (21%) of 70 and 1 (2%) of 49, respectively; more frequent in women than in men, being present in 9 (20%) of 45 and 7 (9%) of 74, respectively; and more frequent in patients from Japan than in those from the United States, being present in 15 (26%) of 58 and 14 (32%) of 41 adenocarcinomas versus 1 (2%) of 61 and 1 (3%) of 29 adenocarcinomas, respectively. The patient characteristics that correlated with the presence of EGFR mutations were those that correlated with clinical response to gefitinib treatment. The striking difference in the frequency of EGFR mutation and response to gefitinib between Japanese and U.S. patients raised general questions regarding variation in the molecular pathogenesis of cancer in different ethnic, cultural, and geographic groups and argued for the benefit of population diversity in cancer clinical trials.
Pao et al. (2004) found that in-frame deletions in exon 19 of the EGFR gene and somatic point mutations in codon 858 (exon 21) were common particularly in lung cancers from 'never smokers' and were associated, as found by others, with sensitivity to the tyrosine kinase inhibitors gefitinib and erlotinib. Pao et al. (2004) found EGFR tyrosine kinase domain mutations in 7 of 10 gefitinib-sensitive tumors and 5 of 7 erlotinib-sensitive tumors. No mutations were found in 8 gefitinib-refractory tumors and 10 erlotinib-refractory tumors. Because most of the mutation-positive tumors were adenocarcinomas from 'never smokers' (defined as patients who smoked less than 100 cigarettes in a lifetime), Pao et al. (2004) screened EGFR exons 2 through 28 for mutations in 15 adenocarcinomas resected from untreated 'never smokers.' Seven tumors had tyrosine kinase domain mutations, in contrast to 4 of 81 nonsmall cell lung cancers resected from untreated former or current smokers. Collectively the data showed that adenocarcinomas from 'never smokers' comprise a distinct subset of lung cancers, frequently containing mutations within the tyrosine kinase domain of EGFR that are associated with kinase inhibitor sensitivity.
Maheswaran et al. (2008) identified the EGFR T790M (131550.0006) mutation in pretreatment tumor samples from 10 (38%) of 26 patients with nonsmall cell lung cancer. Although low levels of the drug-resistant mutation did not preclude response to treatment, it was highly correlated with reduced progression-free survival. Use of a microfluidic-based isolation device and sequence amplification technology allowed for detection of EGFR mutations in circulating tumor cells from 11 (92%) of 12 patients. Serial analysis of circulating tumor cells showed that a reduction in the number of captured cells was associated with a radiographic tumor response; an increase in the number of cells was associated with tumor progression, with the emergence of additional EGFR mutations in some cases. Maheswaran et al. (2008) concluded that molecular analysis of circulating tumor cells from the blood of patients with EGFR-related nonsmall cell lung cancer could offer the possibility of monitoring changes in tumor genotype.
### MET Amplification and Drug Resistance in Lung Cancer
The EGFR kinase inhibitors gefitinib and erlotinib are effective treatments for lung cancers with EGFR activating mutations, but these tumors invariably develop drug resistance. Engelman et al. (2007) described a gefitinib-sensitive lung cancer cell line that developed resistance to gefitinib as a result of focal amplification of the MET (164860) protooncogene. Inhibition of MET signaling in these cells restored their sensitivity to gefitinib. MET amplification was detected in 4 (22%) of 18 lung cancer specimens that had developed resistance to gefitinib or erlotinib. Engelman et al. (2007) found that amplification of MET caused gefitinib resistance by driving ERBB3 (190151)-dependent activation of phosphoinositide 3-kinase, a pathway thought to be specific to EGFR/ERBB family receptors. Thus, Engelman et al. (2007) proposed that MET amplification may promote drug resistance in other ERBB-driven cancers as well.
### KRAS Mutations and Lung Adenocarcinoma
In a study of 106 prospectively enrolled patients with primary adenocarcinoma of the lung, Ahrendt et al. (2001) found that 92 (87%) were smokers. KRAS mutations were detected in 40 (38%) of 106 tumors and were significantly more common in smokers compared with nonsmokers (43% vs 0%; P = 0.001). Thirty-nine of the 40 tumors with KRAS mutations had 1 of 4 changes in codon 12, the most common being gly12 to cys (190070.0001), which was present in 25.
### BRAF Mutations and Lung Adenocarcinoma
Mutations of the BRAF protein serine/threonine kinase gene (164757) have been identified in a variety of human cancers, most notably melanomas. Naoki et al. (2002) analyzed the BRAF sequence in 127 primary human lung adenocarcinomas and found mutations in 2 tumor specimens, one in exon 11 (164757.0006) and another in exon 15 (164757.0007). The specimens belonged to the same adenocarcinoma subgroup as defined by clustering of gene expression data. The authors proposed that BRAF may provide a target for anticancer chemotherapy in a subset of lung adenocarcinoma patients.
### ERBB2 Mutations and Lung Cancer
The Cancer Genome Project and Collaborative Group (2004) sequenced the ERBB2 gene from 120 primary lung tumors and identified 4% that had mutations within the kinase domain; in the adenocarcinoma subtype of lung cancer, 10% of cases had mutations. In-frame deletions within the kinase domain of EGFR (e.g., 131550.0001) are associated with lung tumors that respond to therapy with gefitinib, an EGFR inhibitor. The Cancer Genome Project and Collaborative Group (2004) suggested that ERBB2 inhibitors, which had to that time proved to be ineffective in treating lung cancer, should be clinically reevaluated in the specific subset of patients with lung cancer whose tumors carry ERBB2 mutations.
### STK11 Mutations and Lung Cancer
Ji et al. (2007) used a somatically activatable mutant Kras-driven model of mouse lung cancer to compare the role of Lkb1 (STK11; 602216) to other tumor suppressors in lung cancer. Although Kras mutation cooperated with loss of p53 or Ink4a/Arf (CDKN2A; 600160), in this system, the strongest cooperation was seen with homozygous inactivation of Lkb1. Lkb1-deficient tumors demonstrated shorter latency, an expanded histologic spectrum (adeno-, squamous, and large-cell carcinoma), and more frequent metastasis compared to tumors lacking p53 or Ink4a/Arf. Pulmonary tumorigenesis was also accelerated by hemizygous inactivation of Lkb1. Consistent with these findings, inactivation of LKB1 was found in 34% and 19% of 144 analyzed human lung adenocarcinomas and squamous cell carcinomas, respectively. Expression profiling in human lung cancer cell lines and mouse lung tumors identified a variety of metastasis-promoting genes, such as NEDD9 (602265), VEGFC (601528), and CD24 (600074), as targets of LKB1 repression in lung cancer. Ji et al. (2007) concluded that their studies establish LKB1 as a critical barrier to pulmonary tumorigenesis, controlling initiation, differentiation, and metastasis.
### PIK3CA Mutations and Lung Cancer
Samuels et al. (2004) identified a somatic mutation in the PIK3CA gene (171834) in 1 (4%) of 24 lung cancers examined.
### NKX2-1 Amplification and Lung Adenocarcinoma
Weir et al. (2007) reported a large-scale project to characterize copy number alterations in primary lung adenocarcinomas. By analysis of 371 tumors using dense single-nucleotide polymorphism arrays, Weir et al. (2007) identified 57 significantly recurrent events. Weir et al. (2007) found that 26 of 39 autosomal chromosome arms showed consistent large-scale copy number gain or loss, of which only a handful had been linked to a specific gene. They also identified 31 recurrent focal events, including 24 amplifications and 7 homozygous deletions. Only 6 of these focal events were associated with mutations in lung carcinomas. The most common event, amplification of chromosome 14q13.3, was found in about 12% of samples. On the basis of genomic and functional analyses, Weir et al. (2007) identified NKX2-1 (600635), which lies in the minimal 14q13.3 amplification interval and encodes a lineage-specific transcription factor, as a novel candidate protooncogene involved in a significant fraction of lung adenocarcinomas.
### HMOX1 Polymorphism and Susceptibility to Lung Adenocarcinoma
Kikuchi et al. (2005) screened the heme oxygenase-1 gene (HMOX1; 141250) for (GT)n repeat length in 151 Japanese patients with lung adenocarcinoma and 153 controls. The proportion of L allele carriers was significantly higher among patients than controls (p = 0.02); the adjusted odds ratio for lung adenocarcinoma for L allele carriers was 1.8 (95% CI, 1.1-3.0) compared with non-L allele carriers. The risk of lung adenocarcinoma for L allele carriers versus non-L allele carriers was greatly increased in the group of male smokers (OR = 3.3; 95% CI, 1.5-7.4; p = 0.004); however, in female nonsmokers, the proportion of L allele carriers did not differ between patients and controls, nor did it differ between 108 patients with lung squamous cell carcinoma and 100 controls. Kikuchi et al. (2005) suggested that a large (GT)n repeat in the HMOX1 gene promoter may be associated with the development of lung adenocarcinoma in Japanese male smokers.
### CDKN1A Polymorphism and Susceptibility to Lung Cancer
Sjalander et al. (1996) found an increased frequency of the p21 arg31 allele (116899.0001) in lung cancer patients, especially in comparison with patients with chronic obstructive pulmonary disease (COPD); p = 0.004. Thus allelic variants of both p53 and its effector protein p21 may have an influence on lung cancer.
### GSTM1 Polymorphism and Susceptibility to Lung Cancer
Bennett et al. (1999) studied genes whose products activate (CYP1A1; 108330) or detoxify (GSTM1, 138350; GSTT1, 600436) chemical carcinogens found in tobacco smoke in never-smoking women who were exposed to environmental tobacco smoke (ETS) and developed lung cancer. Archival, paraffin-embedded, and DNA yielding, surgically resected lung cancer tissues were obtained from 106 white women who never smoked and developed lung cancer. When compared with 55 never smokers who developed lung cancer without ETS exposure, 51 never smokers who developed lung cancer with ETS exposure were more likely to be GSTM1-null homozygotes (OR, 2.6; 95% CI, 1.1-6.1). No evidence was found of associations between lung cancer risk due to ETS exposure and GSTT1 deficiency or the CYP1A1 valine variant. The authors concluded that white women who never smoke and are homozygous for the GSTM1 null allele, which occurs in about 50% of the white population, have a statistically significant greater risk of developing lung cancer from ETS.
### FAS and FASL Polymorphisms and Susceptibility to Lung Cancer
Zhang et al. (2005) genotyped 1,000 Han Chinese lung cancer patients and 1,270 controls for 2 functional polymorphisms in the promoter regions of the FAS and FASL genes, -1377G-A (TNFRSF6; 134637.0021) and -844T-C (TNFSF6; 134638.0002), respectively. Compared to noncarriers, there was a 1.6-fold increased risk of developing lung cancer for carriers of the FAS -1377AA genotype and a 1.8-fold increased risk for carriers of the FASL -844CC genotype. Carriers of both homozygous genotypes had a more than 4-fold increased risk, indicative of multiplicative gene-gene interaction; the increased risk was consistently observed in all subtypes of lung cancer. Zhang et al. (2005) stated that these results support the hypothesis that the FAS- and FASL-triggered apoptosis pathway plays an important role in human carcinogenesis.
### CASP8 Polymorphism and Protection Against Lung Cancer
Caspases are important in the life and death of immune cells and therefore influence immune surveillance of malignancies. Using a haplotype-tagging SNP approach, Sun et al. (2007) identified a 6-nucleotide deletion (-652 6N del) variant in the CASP8 promoter (601763.0004) associated with decreased risk of lung cancer in a population of Han Chinese subjects. The deletion destroyed a binding site for stimulatory protein-1 (SP1; 189906) and decreased transcription. Biochemical analyses showed that T lymphocytes with the deletion variant had lower caspase-8 activity and activation-induced cell death upon stimulation with cancer cell antigens. Case-control analyses of 4,995 individuals with cancer and 4,972 controls in a Chinese population showed that this genetic variant is associated with reduced susceptibility to multiple cancers, including lung, esophageal, gastric, colorectal, cervical, and breast cancers, acting in an allele dose-dependent manner.
### CYP2A6 Polymorphism and Protection Against Lung Cancer
Miyamoto et al. (1999) studied the relationship between genetic polymorphism of the CYP2A6 gene (122720) and lung cancer risk in a case-control study of Japanese. They found that the frequency of subjects homozygous for the CYP2A6 gene deletion (122720.0002), which causes lack of the enzyme activity, was lower in the lung cancer patients than in the healthy control subjects. These findings suggested that deficient CYP2A6 activity due to genetic polymorphism reduces lung cancer risk. Oscarson et al. (1999) found that this deletion allele was rare in Europeans but had a frequency of 15.1% among 96 Chinese subjects.
### MPO Polymorphism and Protection Against Lung Cancer in Smokers
Taioli et al. (2007) found that the -463G/A polymorphism in the MPO gene (606989.0008) conferred resistance to lung cancer among smokers.
### SOX2 Amplification in Lung Cancer
Bass et al. (2009) showed that a peak of genomic amplification on chromosome 3q26.33 found in squamous cell carcinomas of the lung and esophagus contains the transcription factor gene SOX2 (184429), which is necessary for normal esophageal squamous development (Que et al., 2007) and differentiation and proliferation of basal tracheal cells (Que et al., 2009), and cooperates in induction of pluripotent stem cells, as summarized by Bass et al. (2009). Bass et al. (2009) found that SOX2 expression is required for proliferation and anchorage-independent growth of lung and esophageal cell lines, as shown by RNA interference experiments. Furthermore, ectopic expression of SOX2 in this study cooperated with FOXE1 (602617) or FGFR2 (176943) to transform immortalized tracheobronchial epithelial cells. SOX2-driven tumors showed expression of markers of both squamous differentiation and pluripotency. Bass et al. (2009) concluded that these characteristics identified SOX2 as a lineage-survival oncogene in lung and esophageal squamous cell carcinoma.
### DOK2 Deletion in Lung Cancer
Berger et al. (2010) showed that, of 199 primary human lung adenocarcinoma samples, 37% showed a deletion of 1 copy of the DOK2 gene (604997) , which maps to chromosome 8p21.3, one of the regions most frequently deleted in human lung cancer. The deletion correlated with loss of DOK2 protein expression. Loss of the DOK1 gene (602919), which maps to chromosome 2p13.1, occurred in 1.5% of samples, and loss of the DOK3 gene (611435), which maps to chromosome 5q35.3, occurred in 7.0% of samples. Further studies in mice showed that haploinsufficiency of Dok2 was sufficient for tumor formation, as the wildtype allele was retained in most tumor samples. Berger et al. (2010) suggested a tumor-suppressor role for DOK2 in human lung cancer.
### C10ORF97 Polymorphism and Susceptibility to Nonsmall Cell Lung Cancer
Shi et al. (2011) identified a 216C-T SNP (rs2297882) in the promoter region of the C10ORF97 gene (611649) that affected the efficiency of translation. The T allele was associated with lower protein levels than the C allele. Genotyping of 418 Chinese patients with nonsmall cell lung cancer and 743 controls showed an association between the TT genotype and lung cancer compared to the TC or CC genotype (odds ratio of 1.73, p = 4.6 x 10(-5)). The findings suggested that C10ORF97 may act as a tumor suppressor gene, and that low levels of it may be associated with tumorigenesis.
Cytogenetics
### ALK/EML4 Fusion Gene
Soda et al. (2007) identified a fusion gene, ALK/EML4 (see 105590), that was present in 5 of 75 Japanese nonsmall cell lung cancer patients examined. None of these patients had mutations in EGFR.
### Copy Number Variation at the MAPKAPK2 Locus
Liu et al. (2012) investigated the role in lung cancer of a copy number variant (CNV), g.CNV-30450, which spans the MAPKAPK2 (602006) promoter region and has 1.7-kb sequences from -1098 to approximately +664 nucleotides to the initiation transcription codon. This variant was found to have an allele frequency of 6/30 (0.20) in the Database of Genetic Variants. The authors detected 2, 3, or 4 copies of g.CNV-30450 among 4,789 Chinese individuals. Liu et al. (2012) investigated the association between cancer risk and g.CNV-30450 in 3 independent case-control studies of 2,332 individuals with lung cancer and 2,457 controls, and also studied the effects of this CNV on cancer prognosis in 1,137 individuals with lung cancer with survival data in Southern and Eastern Chinese populations. Liu et al. (2012) found that those subjects who had 4 copies of g.CNV-30450 had an increased cancer risk (OR = 1.94, 95% CI = 1.61-2.35) and, in individuals with lung cancer, a worse prognosis (with a median survival time of only 9 months) (hazard ratio = 1.47, 95% CI = 1.22-1.78) compared with those with 2 or 3 copies (with a median survival time of 14 months). Liu et al. (2012) also showed that 4 copies of g.CNV-30450 significantly increased MAPKAPK2 expression, both in vitro and in vivo, compared with 2 or 3 copies.
INHERITANCE \- Somatic mutation \- Autosomal dominant RESPIRATORY Lung \- Alveolar cell carcinoma \- Nonsmall cell lung cancer \- Adenocarcinoma of lung NEOPLASIA \- Alveolar cell carcinoma \- Nonsmall cell lung cancer \- Adenocarcinoma of lung MISCELLANEOUS \- Genes associated with susceptibility to lung cancer, e.g., FASLG ( 134638.0002 ), FAS ( 134637.0021 ), CHRNA5 ( 118505.0001 ), CHRNA3 ( 118503.0001 ) \- Genes associated with a protection against lung cancer, e.g., CASP8 ( 601763.0004 ), CYP2A6 ( 122720.0002 ) \- Mutations in EGFR (131550) are associated with altered response to treatment with tyrosine kinase inhibitors MOLECULAR BASIS \- Susceptibility conferred by mutation in the epidermal growth factor receptor gene (EGFR, 131550.0006 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| LUNG CANCER | c0007120 | 7,236 | omim | https://www.omim.org/entry/211980 | 2019-09-22T16:30:09 | {"doid": ["1324"], "mesh": ["D002282"], "omim": ["211980"]} |
Bleeding canker of horse chestnut is a common canker of horse chestnut trees (Aesculus hippocastanum, also known as conker trees) that is known to be caused by infection with several different pathogens.
Infections by the gram-negative fluorescent bacterium Pseudomonas syringae pathovar aesculi are a new phenomenon, and have caused most of the bleeding cankers on horse chestnut that are now frequently seen in Britain.[1]
## Contents
* 1 Disease cycle
* 2 Causes
* 2.1 Pseudomonas syringae pathovar aesculi
* 3 Management
* 4 Importance
* 5 References
* 6 External links
## Disease cycle[edit]
Pseudomonas syringae pv. Aesculi is a bacterium that causes bleeding canker of horse chestnut. The pathogen overwinters in the soil and can survive in the soil for about a year.[2] It is spread by water, rain, and tools that were used on the infected tree.[3] It causes lesions on the bark of the tree that can be near the base of the trunk or higher. The bleeding from the cankers mostly occurs in the spring and fall.[1] Infection of the tree through lenticels and leaf scars when inoculated in a study occurred most readily in the spring and summer. In contrast, lesion growth from an artificial wound was less severe in the summer. The lesions developed the most (after inoculation) in October and November, during the dormant period of the tree.[3] Development of the disease occurs throughout the year. The disease starts with local lesions, but becomes systematic when it affects the crown of the tree, usually after several years of infection.[1] This is a bacterium so the pathogen reproduces by binary fission. The pathogen is spreading rapidly across western Europe though movement mostly by wind blown rain.
## Causes[edit]
### Pseudomonas syringae pathovar aesculi[edit]
In the past few years, the bacterial pathogen Pseudomonas syringae pv. aesculi has emerged as a new and virulent agent for this disease in Western Europe. Specific to horse chestnut trees, this pathogen infects the bark (cambium) around the trunk and main branches. As it spreads, it cuts off the water supply to the crown; and when it completely encircles the trunk, the tree will die.[4]
This particular infective agent emerged in the past few years, and has now spread rapidly to infect many trees in Western Europe.[5]
Initially the outbreak was attributed to Phytophthora, until DNA tests suggested that a pathovar of Pseudomonas syringae was responsible; and this hypothesis was confirmed in 2007 with tests satisfying Koch's postulates.[4][6]
The disease has risen markedly in the UK since 2003,[6] and now approximately one half of all horse chestnuts in Great Britain are affected and showing symptoms to some degree.[5] The disease is spreading at an alarming rate in the Netherlands,[7] where one third of all horse chestnuts are affected to a greater or lesser extent.[8] A similar upsurge is reported in Belgium and France.[6]
## Management[edit]
Management of Bleeding Canker of Chestnut is not definitive and treatments are currently being investigated. Because the pathogen can be spread by contaminated tools, cultural practices are important to management. Tools should be cleaned and used with caution after being used on infected trees.[2] Recovery of trees is possible, so management strategies are focused on keeping trees healthy so they can recover. One recommendation is to add fertilizer that contains Potassium phosphate.[9] Soil de-compaction, providing good drainage, and mulching to minimize fluctuation of soil temperature and moisture are all ways to improve or maintain tree health and to manage the pathogen.[9]
Chemical methods can be used to help the tree maintain health and avoid progress of the disease. Management strategies are currently being developed. A study performed in 2015 examined the infection on trees and found that 41 F1 progeny parent tree source had the most promising lines of viability for resistance.[10]
Effective Heat methods: Heating up the bark of the trunk of the Chestnut trees with warm water or heat blankets of Chestnut Tree Treatment. [11] Heat Trial in Station Dordrecht Zuid: initially established success in the laboratory by Wageningen Plant Research. [12] After heating up the bacterium for two days at approximately 40° Celsius the bacterium was no longer able to continue to grow and multiply. Seedlings were able to restore their wounds. Packing of chestnut trees with water or heat blankets is used in studies to improve the effectiveness of the Heat treatment to larger chestnut trees.
Larger scale tests of the Heat method with electric blankets of Chestnut Tree Treatment [11] are currently being investigated for public Chestnut Trees in the Dutch Amsterdam Region, see the map here: [13]
## Importance[edit]
The Horse Chestnut is considered an economically and socially important tree. It is estimated that there are 470,000 trees in Great Britain. Many are urban, in parks and gardens. They are desirable because they can tolerate many conditions including dry sandy soils, wet clays and chalk.[4] The tree is economically important because it contains aescin which can be used for its anti-inflammatory properties. Wildlife also benefit from the nuts the tree provides.[14]
Bleeding canker and bark cracking on the trunk of Horse Chestnut
## References[edit]
1. ^ a b c GB, Forestry Commission. "bleeding canker of horse chestnut". www.forestry.gov.uk. Retrieved 2016-12-08.
2. ^ a b GB, Forestry Commission. "Using molecular technology to characterise the biology of Pseudomonas syringae pv. aesculi, causing bleeding canker of horse chestnut". www.forestry.gov.uk. Retrieved 2016-12-08.
3. ^ a b Laue, B. E.; Steele, H.; Green, S. (2014). "Survival, cold tolerance and seasonality of infection of European horse chestnut (Aesculus hippocastanum) by Pseudomonas syringaepv.aesculi". Plant Pathology. 63 (6): 1417. doi:10.1111/ppa.12213.
4. ^ a b c "Symptoms and causal agent of bleeding canker of horse chestnut". UK Forestry Commission. Archived from the original on 2009-10-10. Retrieved 2009-10-09.
5. ^ a b "Extent of the bleeding canker of horse chestnut problem". UK Forestry Commission. Archived from the original on 2009-12-09. Retrieved 2010-01-09.
6. ^ a b c J.F. Webber; N.M. Parkinson; J. Rose; H. Stanford; R.T.A. Cook & J.G. Elphinstone (12 July 2007). "Isolation and identification of Pseudomonas syringae pv. aesculi causing bleeding canker of horse chestnut in the UK". New Disease Reports. British Society for Plant Pathology (BSPP). Retrieved 1 November 2010.[permanent dead link]
7. ^ "Horse Chestnut Bleeding Disease". Working group Aesculaap. 8 September 2006. Archived from the original on 2009-10-09. Retrieved 2010-01-09.
8. ^ "Reasons for increased incidence of bleeding canker of horse chestnut". UK Forestry Commission. Archived from the original on 2009-09-12. Retrieved 2009-10-09.
9. ^ a b "Managing Pseudomoas Bleeding Canker of Horse Chestnut" (PDF). Bartlett Tree Research Laboratories Technical Report. Retrieved 2016-12-08.
10. ^ Pánková, Iveta; Krejzar, Václav; Mertelík, Josef; Kloudová, Kateřina (2015). "The occurrence of lines tolerant to the causal agent of bleeding canker, Pseudomonas syringae pv. aesculi, in a natural horse chestnut population in Central Europe". European Journal of Plant Pathology. 142 (1): 37–47. doi:10.1007/s10658-014-0587-2. S2CID 18280662.
11. ^ a b "Chestnuttree-treatmentⒸ Healing Chestnut trees with Pseudomonas Bleeding disease". www.chestnuttreetreatment.com. Archived from the original on 2018-03-12. Retrieved 2018-03-11.
12. ^ "Kastanjebloedingsziekte". 2015-02-27.
13. ^ Haan, Gemeente Amsterdam Klaas-Bindert de. "Chestnut bleeding disorder". maps.amsterdam.nl.
14. ^ "Aesculus indica (Indian horse chestnut) | Plants & Fungi At Kew". www.kew.org. Retrieved 2016-12-08.
## External links[edit]
* UK Forest Research
* Kew Royal Botanical Gardens- (Aesculus indica) Indian horse chestnut
* Forestry Commission Website
* Working group Aesculaap
*[v]: View this template
*[t]: Discuss this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Bleeding canker of horse chestnut | None | 7,237 | wikipedia | https://en.wikipedia.org/wiki/Bleeding_canker_of_horse_chestnut | 2021-01-18T18:29:02 | {"wikidata": ["Q4925900"]} |
A number sign (#) is used with this entry because of evidence that ataxia with vitamin E deficiency (AVED) is caused by homozygous or compound heterozygous mutation in the TTPA gene (600415) on chromosome 8q12.
Clinical Features
Harding et al. (1985) described a young woman with spinocerebellar degeneration thought to be due to a selective defect in vitamin E absorption. There was no evidence of fat malabsorption. Binder et al. (1967) suggested a relationship between neurologic dysfunction and vitamin E deficiency in patients with chronic steatorrhea. This was subsequently confirmed in patients with abetalipoproteinemia (200100), the most severe state of vitamin E deficiency known. When studied at age 23, the proband had no vitamin E in the serum. A progressive neurologic disorder comprising ataxia, areflexia and marked loss of proprioception developed at age 13. She also had increased serum concentrations of cholesterol, triglyceride and beta-lipoprotein and showed xanthelasmata and xanthomas of the Achilles tendon. Improvement in the neurologic disease accompanied administration of vitamin E. The proband's mother had tendinous xanthomas and elevated serum cholesterol. Both parents and 4 brothers had low or low-normal serum vitamin E levels consistent with the heterozygous state of a disorder for which the proband was homozygous. The lipid disturbance in the proband and her mother was thought to be familial hypercholesterolemia. Evidence was cited that the mechanism of absorption of vitamin E may be different from that for the other fat-soluble vitamins. A progressive development of ataxia and areflexia with a 'dying back' of the peripheral nerves, along with spinocerebellar degeneration, are characteristic of vitamin E deficiency. Several patients have been described who, like the patient of Harding et al. (1985), had neurologic abnormalities similar to those of vitamin E deficiency but had no evidence of fat malabsorption (Burck et al., 1981; Kohlschutter et al., 1988; Laplante et al., 1984; Krendel et al., 1987; Yokota et al., 1987; Sokol et al., 1988). Sokol et al. (1988) studied 2 affected sisters, a brother, and an isolated case in another family. No consanguinity was observed, but no other affected persons were demonstrated by studies in these families. These patients all had normal lipid absorption, gastrointestinal, pancreatic, and intestinal function, and lipoproteins, but when consuming a normal diet, they had exquisitely low plasma vitamin E levels and developed neurologic abnormalities characteristic of vitamin E deficiency. With the addition of daily vitamin E supplements (400-1,200 IU) to the diet, normal plasma vitamin E levels could be maintained and in several patients improvement in neurologic function was reported. When vitamin E supplementation was interrupted, plasma tocopherol fell sharply to suboptimal levels.
Selective vitamin E deficiency shows clinical features very similar, and in some cases identical, to those of Friedreich ataxia (FRDA; 229300). Ben Hamida et al. (1993) pointed out that cardiomyopathy like that in Friedreich ataxia had not been reported in patients with isolated vitamin E deficiency.
Mapping
During a search for recombinants between the 9q13-q21 markers and the disease locus in FRDA families, Ben Hamida et al. (1993, 1993) found 5 with apparent recombinations that turned out, in fact, to be segregating a Friedreich-like disease associated with selective vitamin E deficiency. Since 3 such families of Tunisian origin were large and highly inbred, they were used to search for the defective locus by a combination of homozygosity mapping and sib comparisons. Linkage was found to 2 microsatellite markers located about 400 kb apart on proximal 8q. The other 2 families, one Tunisian and one Italian, also showed homozygosity and linkage with these markers, as did a sixth family of Albanese origin for which serum vitamin E levels could not be obtained. By combining all 6 families and by computing the consanguinity loops, a maximum lod score of 17.9 was obtained at theta = 0.0 for a haplotype combining the 2 microsatellite marker loci. The lod-1 confidence interval was 2.4 cM on either side of these markers. Doerflinger et al. (1995) performed linkage studies in 6 new and 2 previously described families and demonstrated genetic homogeneity despite significant clinical variability. They refined the AVED position to a 1-cM interval on 8q. Haplotype analysis using tightly linked microsatellite markers demonstrated a predominant, although not unique, mutation as responsible for the disorder in North African populations, where this condition is unusually frequent. Doerflinger et al. (1995) also constructed a YAC contig over this interval to facilitate the search for the AVED gene.
Molecular Genetics
The tocopherol-binding protein is also known as alpha-tocopherol transfer protein and TTP1. In patients with familial isolated vitamin E deficiency, Traber et al. (1990) demonstrated a defect in the incorporation of alpha-tocopherol into lipoproteins secreted by the liver. They suggested that these patients are lacking or have a defective liver tocopherol-binding protein that incorporates alpha-tocopherol into nascent very-low-density lipoprotein.
The implication of TTP1 in ataxia with isolated vitamin E deficiency was established by the identification of frameshift mutations in the TTPA gene. A 744delA mutation (600415.0001) accounted for 68% of the mutant alleles in 17 families analyzed by Ouahchi et al. (1995) and appeared to have spread in North Africa and Italy. Although only the C-terminal tenth of the protein was altered, this mutation correlated with a severe phenotype. Two other mutations were found in single families. Hentati et al. (1996) described the structure of the TTPA gene and identified several TTPA mutations that were associated with familial vitamin E deficiency.
Schuelke et al. (1999) described a 14-year-old male with ataxia and mental symptoms who was found to be homozygous for a 552G-A mutation in the TTPA gene (600415.0007). After initiation of high-dosage alpha-tocopherol therapy, the organic mental syndrome disappeared and cognitive function improved rapidly. Neurologic recovery, however, was slow and incomplete.
Aoki et al. (1990) reported 2 sibs who had an atypical spinocerebellar syndrome with isolated vitamin E deficiency. On restudy of one of these patients, mutation in the TTPA gene was excluded, suggesting the existence of another gene for familial isolated vitamin E deficiency (Shiojiri et al., 1999).
Cellini et al. (2002) reported a patient with progressive ataxia from the age of 7 years, becoming wheelchair bound at age 17, as well as cerebellar atrophy and vitamin E deficiency. She had expanded CTA/CAG repeats suggestive of SCA8 (608768) and also had compound heterozygosity for mutations in the TTPA gene (600415.0004 and 600415.0006), yielding a nonfunctional protein. Supplementation with vitamin E did not improve symptoms. Cellini et al. (2002) suggested that the SCA mutations acted in the neurodegenerative process, worsening the neurologic signs caused by the vitamin E deficit.
Heterogeneity
Bouhlal et al. (2008) reported an unusual, highly consanguineous Tunisian family in which 11 individuals had autosomal recessive ataxia caused by 3 distinct gene defects. Seven patients who also had low vitamin E levels were all homozygous for the common 744delA mutation in the TTPA gene (600415.0001), consistent with a diagnosis of AVED. Two patients with normal vitamin E levels were homozygous for a mutation in the FXN gene (606829.0001), consistent with a diagnosis of FRDA (229300). The final 2 patients with normal vitamin E levels carried a mutation in the SACS gene (604490), consistent with a diagnosis of ARSACS (270550). The clinical phenotype was relatively homogeneous, although the 2 patients with SACS mutations had hyperreflexia of the knee. One asymptomatic family member was compound heterozygous for the TTPA and FXN mutations. Bouhlal et al. (2008) emphasized the difficulty of genetic counseling in deeply consanguineous families.
Inheritance \- Autosomal recessive Neuro \- Spinocerebellar ataxia \- Areflexia \- Proprioception loss Lab \- Undetectable serum vitamin E \- High serum cholesterol, triglyceride and beta-lipoprotein \- Defective liver 'tocopherol binding protein' Skin \- Xanthelasmata \- Tendon xanthomas ▲ Close
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*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
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*[GER]: Germany
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*[FDA]: Food and Drug Administration
| VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | c1848533 | 7,238 | omim | https://www.omim.org/entry/277460 | 2019-09-22T16:21:13 | {"doid": ["0090028"], "mesh": ["C535393"], "omim": ["277460"], "orphanet": ["96"], "synonyms": ["Alternative titles", "ATAXIA, FRIEDREICH-LIKE, WITH SELECTIVE VITAMIN E DEFICIENCY", "FRIEDREICH-LIKE ATAXIA"], "genereviews": ["NBK1241"]} |
Itchy skin rash usually affecting the genitals
Lichen sclerosus
Other namesBalanitis xerotica obliterans, lichen sclerosus et atrophicus,[1] lichen plan atrophique, lichen plan scléreux, Kartenblattförmige Sklerodermie, Weissflecken Dermatose, lichen albus, lichen planus sclerosus et atrophicus, dermatitis lichenoides chronica atrophicans, kraurosis vulvae[2]
Micrograph of lichen sclerosus showing the characteristic subepithelial sclerosus (right/bottom of image). H&E stain.
SpecialtyGynaecology
Lichen sclerosus (LS) is a chronic, inflammatory skin disease of unknown cause which can affect any body part of any person but has a strong preference for the genitals (penis, vulva) and is also known as balanitis xerotica obliterans (BXO) when it affects the penis. Lichen sclerosus is not contagious. There is a well-documented increase of skin cancer risk in LS, potentially improvable with treatment. LS in adult age is normally incurable, but improvable with treatment, and often gets progressively worse.
## Contents
* 1 Signs and symptoms
* 1.1 Psychological effect
* 2 Pathophysiology
* 2.1 Genetic
* 2.2 Autoimmunity
* 2.3 Infection
* 2.4 Hormones
* 2.5 Local skin changes
* 3 Diagnosis
* 4 Treatment
* 4.1 Main treatment
* 4.2 Other treatments
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 See also
* 9 References
* 10 External links
## Signs and symptoms[edit]
Lichen sclerosus on an 82-year-old woman, showing an ivory white coloring in the vulva, and also stretching downward to the perineum.
LS can occur without symptoms. White patches on the LS body area, itching, pain, pain during sex (in genital LS), easier bruising, cracking, tearing and peeling, and hyperkeratosis are common symptoms in both men and women. In women, the condition most commonly occurs on the vulva and around the anus with ivory-white elevations that may be flat and glistening.[citation needed]
In males, the disease may take the form of whitish patches on the foreskin and its narrowing (preputial stenosis), forming an "indurated ring", which can make retraction more difficult or impossible (phimosis). In addition there can be lesions, white patches or reddening on the glans. In contrast to women, anal involvement is less frequent. Meatal stenosis, making it more difficult or even impossible to urinate, may also occur.[citation needed]
On the non-genital skin, the disease may manifest as porcelain-white spots with small visible plugs inside the orifices of hair follicles or sweat glands on the surface. Thinning of the skin may also occur.[3]
### Psychological effect[edit]
Distress due to the discomfort and pain of Lichen Sclerosus is normal, as are concerns with self-esteem and sex. Counseling can help.[citation needed]
According to the National Vulvodynia Association, which also supports women with Lichen Sclerosus, vulvo-vaginal conditions can cause feelings of isolation, hopelessness, low self-image, and much more. Some women are unable to continue working or have sexual relations and may be limited in other physical activities.[4] [5]Depression, anxiety, and even anger are all normal responses to the ongoing pain LS patients suffer from.
## Pathophysiology[edit]
Although it is not clear what causes LS, several theories have been postulated. Lichen Sclerosus is not contagious; it cannot be caught from another person.[6]
Several risk factors have been proposed, including autoimmune diseases, infections and genetic predisposition.[7][8] There is evidence that LS can be associated with thyroid disease.[9]
### Genetic[edit]
Lichen sclerosus may have a genetic component. Higher rates of lichen sclerosus have been reported among twins[10][11] and among family members.[12]
### Autoimmunity[edit]
Autoimmunity is a process in which the body fails to recognize itself and therefore attacks its own cells and tissue. Specific antibodies have been found in LS. Furthermore, there seems to be a higher prevalence of other autoimmune diseases such as diabetes mellitus type 1, vitiligo, alopecia areata, and thyroid disease.[13][14]
### Infection[edit]
Both bacterial as well as viral pathogens have been implicated in the etiology of LS. A disease that is similar to LS, acrodermatitis chronica atrophicans is caused by the spirochete Borrelia burgdorferi. Viral involvement of HPV[15] and hepatitis C[16] are also suspected.
A link with Lyme disease is shown by the presence of Borrelia burgdorferi in LSA biopsy tissue.[17]
### Hormones[edit]
Since LS in females is primarily found in women with a low estrogen state (prepubertal and postmenopausal women), hormonal influences were postulated. To date though, very little evidence has been found to support this theory.[citation needed]
### Local skin changes[edit]
Some findings suggest that LS can be initiated through scarring[18] or radiation,[19][20] although these findings were sporadic and very uncommon.[citation needed]
## Diagnosis[edit]
Micrograph of extragenital lichen sclerosus: epidermal atrophy, follicular plugging and basal vacuolization, and sclerosis with initial homogenization of collagen in the dermis.[21]
The disease often goes undiagnosed for several years, as it is sometimes not recognized and misdiagnosed as thrush or other problems and not correctly diagnosed until the patient is referred to a specialist when the problem does not clear up.[citation needed]
A biopsy of the affected skin can be done to confirm diagnosis. When a biopsy is done, hyperkeratosis, atrophic epidermis, sclerosis of dermis and lymphocyte activity in dermis are histological findings associated with LS.[22] The biopsies are also checked for signs of dysplasia.[23]
It has been noted that clinical diagnosis of BXO can be "almost unmistakable," though there are other dermatologic conditions such as lichen planus, localized scleroderma, leukoplakia, vitiligo, and the cutaneous rash of Lyme disease can have a similar appearance.[24]
## Treatment[edit]
### Main treatment[edit]
There is no definitive cure for LS.[25] Behavior change is part of treatment. The patient should minimize or preferably stop scratching LS-affected skin.[26] Any scratching, stress or damage to the skin can worsen the disease. Scratching has been theorized to increase cancer risks.[27] Furthermore, the patient should wear comfortable clothes and avoid tight clothing, as it is a major factor in the severity of symptoms in some cases.[27][28]
Topically applied corticosteroids to the LS-affected skin are the first-line treatment for lichen sclerosus in women and men, with strong evidence showing that they are "safe and effective" when appropriately applied, even over long courses of treatment, rarely causing serious adverse effects.[29][30][31][32][33] They improve or suppress all symptoms for some time, which highly varies across patients, until it is required to use them again.[34] Methylprednisolone aceponate has been used as a safe and effective corticosteroid for mild and moderate cases.[35] For severe cases, it has been theorized that mometasone furoate might be safer and more effective than clobetasol.[35] Recent studies have shown that topical calcineurin inhibitors such as tacrolimus can have an effect similar to corticosteroids, but its effects on cancer risks in LS are not conclusively known.[36][37] Based on limited evidence, a 2011 Cochrane review concluded that clobetasol propionate, mometasone furoate, and pimecrolimus (calcineurin inhibitor) all are effective therapies in treating genital lichen sclerosus.[38] However, randomized-controlled trials are needed to further identify the optimal potency and regimen of topical corticosteroids and assess the duration of remission and/or the prevention of flares patients experience with these topical therapies.[38]
Continuous usage of appropriate doses of topical corticosteroids is required to ensure symptoms stay relieved over the patient's life time. If continuously used, corticosteroids have been suggested to minimize the risk of cancer in various studies. In a prospective longitudinal cohort study of 507 women throughout 6 years, cancer occurred for 4.7% of patients who were only "partially compliant" with corticosteroid treatment, while it occurred in 0% of cases where they were "fully compliant".[39] In a second study, of 129 patients, cancer occurred in 11% of patients, none of which were fully compliant with corticosteroid treatment.[35] Both these studies however also said that a corticosteroid as powerful as clobetasol is not necessary in most cases. In a prospective study of 83 patients, throughout 20 years, 8 patients developed cancer. 6 already had cancer at presentation and had not had treatment, while the other 2 were not taking corticosteroids often enough.[34] In all three studies, every single cancer case observed occurred in patients who weren't taking corticosteroids as often as the study recommended.[citation needed]
Continuous, abundant usage of emollients topically applied to the LS-affected skin is recommended to improve symptoms. They can supplement but not replace corticosteroid therapy.[30][32][40] They can be used much more frequently than corticosteroids due to the extreme rarity of serious adverse effects. Appropriate lubrication should be used every time before and during sex in genital LS in order to avoid pain and worsening the disease.[41] Some oils such as olive oil and coconut oil can be used to accomplish both the emollient and sexual lubrication function.[citation needed]
In males, it has been reported that circumcision can have positive effects, but does not necessarily prevent further flares of the disease[42] and does not protect against the possibility of cancer.[43] Circumcision does not prevent or cure LS; in fact, "balanitis xerotica obliterans" in men was first reported as a condition affecting a set of circumcised men, by Stühmer in 1928.[2]
### Other treatments[edit]
Carbon dioxide laser treatment is safe, effective and improves symptoms over a long time,[44] but does not lower cancer risks.
Platelet rich plasma was reported to be effective in one study, producing large improvements in the patients' quality of life, with an average IGA improvement of 2.04 and DLQI improvement of 7.73.[45]
## Prognosis[edit]
The disease can last for a considerably long time. Occasionally, "spontaneous cure" may ensue,[46] particularly in young girls.
Lichen sclerosus is associated with a higher risk of cancer.[47][48][49] Skin that has been scarred as a result of lichen sclerosus is more likely to develop skin cancer. Women with lichen sclerosus may develop vulvar carcinoma.[50][51] Lichen sclerosus is associated with 3–7% of all cases of vulvar squamous cell carcinoma.[52] In women, it has been reported that 33.6 times higher vulvar cancer risk is associated with LS.[53][54] A study in men reported that "The reported incidence of penile carcinoma in patients with BXO is 2.6–5.8%".[55]
## Epidemiology[edit]
There is a bimodal age distribution in the incidence of LS in women. It occurs in females with an average age of diagnosis of 7.6 years in girls and 60 years old in women. The average age of diagnosis in boys is 9–11 years old.[56]
In men, the most common age of incidence is 21-30.[57]
## History[edit]
In 1875, Weir reported what was possible vulvar or oral LS as "ichthyosis". In 1885, Breisky described kraurosis vulvae. In 1887, Hallopeau describes series of extragenital LS. In 1892, Darier formally describes classic histopathology of LS. From 1900 to present, the concept starts being formed that scleroderma and LS are closely related. In 1901, Pediatric LS was described. From 1913 to present, the concept that scleroderma is not closely related to LS also starts being formed. In 1920, Taussig establishes vulvectomy as treatment of choice for kraurosis vulvae, a premalignant condition. In 1927, Kyrle defines LS ("white spot disease") as entity sui generis. In 1928, Stühmer describes balanitis xerotica obliterans as postcircumcision phenomenon. In 1936, Retinoids (vitamin A) used in LS. In 1945, Testosterone used in genital LS. In 1961, the use of corticosteroids started. In Jeffcoate presents argument against vulvectomy for simple LS. In 1971, Progesterone used in LS, Wallace defines clinical factors and epidemiology of LS for all later reports. In 1976, Friedrich defines LS as a dystrophic, not atrophic condition; "et atrophicus" dropped. International Society for Study of Vulvar Disease classification system. "Kraurosis" and "leukoplakia" no longer to be used. In 1980, Fluourinated and superpotent steroids used in LS. In 1981, studies into HLA serotypes and LS. In 1984, Etretinate and acetretin used in LS. In 1987, LS linked with Borrelia infection.[2]
Lichen sclerosus et atrophicus was first described in 1887 by Dr. Hallopeau.[58] Since not all cases of lichen sclerosus exhibit atrophic tissue, et atrophicus was dropped in 1976 by the International Society for the Study of Vulvovaginal Disease (ISSVD), officially proclaiming the name lichen sclerosus.[59]
## See also[edit]
* Lichen planus
* List of cutaneous conditions
* List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer
* List of human leukocyte antigen alleles associated with cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 227. ISBN 0-7216-2921-0.
2. ^ a b c Meffert JJ, Davis BM, Grimwood RE. Lichen Sclerosus. J Am Acad Dermatol 1995;32(3): 393-416.
3. ^ Laymon, CW (1951). "Lichen sclerosus et atrophicus and related disorders". AMA Arch Derm Syphilol. 64 (5): 620–627. doi:10.1001/archderm.1951.01570110090013. PMID 14867888.
4. ^ National Vulvodynia Association. "Vulvodynia Fact Sheet". Vulvodynia Media Corner. National Vulvodynia Association. Retrieved 16 June 2012.
5. ^ Gutierrez-Ontalvilla, Patricia (2019). "The Female Sexual Function Index to assess patients with moderate to severe vulvar lichen sclerosus". European Journal of Dermatology. 29 (4): 430–431. doi:10.1684/ejd.2019.3580. PMID 31625922.
6. ^ National Institute of Health. "Fast Facts About Lichen Sclerosus". Lichen Sclerosus. National Institute of Arthritis and Musculoskeletal and Skin Diseases. Retrieved 16 June 2012.
7. ^ Yesudian, PD; Sugunendran, H; Bates, CM; O'Mahony, C (2005). "Lichen sclerosus". Int J STD AIDS. 16 (7): 465–473. doi:10.1258/0956462054308440. PMID 16004624.
8. ^ Regauer, S (2005). "Immune dysregulation in lichen sclerosus". Eur J Cell Biol. 84 (2–3): 273–277. doi:10.1016/j.ejcb.2004.12.003. PMID 15819407.
9. ^ Birenbaum, DL; Young, RC (2007). "High prevalence of thyroid disease in patients with lichen sclerosus". J Reprod Med. 52 (1): 28–30. PMID 17286064.
10. ^ Meyrick Thomas, RH; Kennedy, CT (Mar 1986). "The development of lichen sclerosus et atrophicus in monozygotic twin girls". The British Journal of Dermatology. 114 (3): 377–379. doi:10.1111/j.1365-2133.1986.tb02831.x. PMID 3954957.
11. ^ Cox, NH; Mitchell, JN; Morley, WN (Dec 1986). "Lichen sclerosus et atrophicus in non-identical female twins". The British Journal of Dermatology. 115 (6): 743–746. doi:10.1111/j.1365-2133.1986.tb06659.x. PMID 3801314.
12. ^ Sherman, V; McPherson, T; Baldo, M; Salim, A; Gao, XH; Wojnarowska, F (Sep 2010). "The high rate of familial lichen sclerosus suggests a genetic contribution: an observational cohort study". Journal of the European Academy of Dermatology and Venereology : JEADV. 24 (9): 1031–1034. doi:10.1111/j.1468-3083.2010.03572.x. PMID 20202060.
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14. ^ Fruchter, R.; Melnick, L.; Pomeranz, M.K. (2017-03-27). "Lichenoid vulvar disease: A review". International Journal of Women's Dermatology. 3 (1): 58–64. doi:10.1016/j.ijwd.2017.02.017. ISSN 2352-6475. PMC 5419035. PMID 28492056.
15. ^ Drut, RM; Gomez, MA; Drut, R; Lojo, MM (1998). "Human papillomavirus is present in some cases of childhood penile lichen sclerosus: an in situ hybridization and SP-PCR study". Pediatr Dermatol. 15 (2): 85–90. doi:10.1046/j.1525-1470.1998.1998015085.x. PMID 9572688.
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17. ^ Eisendle, K; Grabner, TG; Kutzner, H (2008). "Possible Role of Borrelia burgdorferi Sensu Lato Infection in Lichen Sclerosus". Br J Dermatol. 144 (5): 591–598. doi:10.1001/archderm.144.5.591. PMID 18490585.
18. ^ Pass, CJ (1984). "An unusual variant of lichen sclerosus et atrophicus: delayed appearance in a surgical scar". Cutis. 33 (4): 405. PMID 6723373.
19. ^ Milligan, A; Graham-Brown, RA; Burns, DA (1988). "Lichen sclerosus et atrophicus following sunburn". Clin Exp Dermatol. 13 (1): 36–37. PMID 3208439.
20. ^ Yates, VM; King, CM; Dave, VK (1985). "Lichen sclerosus et atrophicus following radiation therapy". Arch Dermatol. 121 (8): 1044–1047. doi:10.1001/archderm.121.8.1044. PMID 4026344.
21. ^ Jędrowiak, Anna; Kobusiewicz, Aleksandra; Trznadel-Grodzka, Ewa; Kaszuba, Andrzej (2018). "Dermoscopic findings in extragenital lichen sclerosus". Our Dermatology Online. 9 (2): 197–199. doi:10.7241/ourd.20182.24. ISSN 2081-9390.
\- "Figures - available via license: CC BY 4.0"
22. ^ Lichen Sclerosus et Atrophicus at eMedicine
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28. ^ Todd, P.; Halpern, S.; Kirby, J.; Pembroke, A. (1994). "Lichen sclerosus and the Kobner phenomenon". Clinical and Experimental Dermatology. 19 (3): 262–263. doi:10.1111/j.1365-2230.1994.tb01183.x. ISSN 0307-6938. PMID 8033394.
29. ^ Dalziel, K.L.; Millard, P.R.; Wojnarowska, F. (1991). "The treatment of vulval lichen sclerosus with a very potent topical steroid (clobetasol Propionate 0.05%) cream". British Journal of Dermatology. 124 (5): 461–464. doi:10.1111/j.1365-2133.1991.tb00626.x. ISSN 0007-0963. PMID 2039723.
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33. ^ Neill, S.M.; Tatnall, F.M.; Cox, N.H. (2002). "Guidelines for the management of lichen sclerosus". British Journal of Dermatology. 147 (4): 640–649. doi:10.1046/j.1365-2133.2002.05012.x. ISSN 0007-0963. PMID 12366407.
34. ^ a b Renaud-Vilmer, Catherine; Cavelier-Balloy, Bénédicte; Porcher, Raphaël; Dubertret, Louis (2004). "Vulvar Lichen Sclerosus". Archives of Dermatology. 140 (6). doi:10.1001/archderm.140.6.709. ISSN 0003-987X. PMID 15210462.
35. ^ a b c Bradford, J.; Fischer, G. (2010). "Long-term management of vulval lichen sclerosus in adult women". Australian and New Zealand Journal of Obstetrics and Gynaecology. 50 (2): 148–152. doi:10.1111/j.1479-828X.2010.01142.x. ISSN 0004-8666. PMID 20522071.
36. ^ Li, Y; Xiao, Y; Wang, H; Li, H; Luo, X (Aug 2013). "Low-concentration topical tacrolimus for the treatment of anogenital lichen sclerosus in childhood: maintenance treatment to reduce recurrence". Journal of Pediatric and Adolescent Gynecology. 26 (4): 239–42. doi:10.1016/j.jpag.2012.11.010. PMID 24049806.
37. ^ Maassen, MS; van Doorn, HC (2012). "[Topical treatment of vulvar lichen sclerosus with calcineurin inhibitors]". Nederlands Tijdschrift voor Geneeskunde. 156 (36): A3908. PMID 22951124.
38. ^ a b Chi, Ching-Chi; Kirtschig, Gudula; Baldo, Maha; Brackenbury, Fabia; Lewis, Fiona; Wojnarowska, Fenella (2011-12-07). "Topical interventions for genital lichen sclerosus". The Cochrane Database of Systematic Reviews (12): CD008240. doi:10.1002/14651858.CD008240.pub2. ISSN 1469-493X. PMC 7025763. PMID 22161424.
39. ^ Lee, Andrew; Bradford, Jennifer; Fischer, Gayle (2015). "Long-term Management of Adult Vulvar Lichen Sclerosus". JAMA Dermatology. 151 (10): 1061–7. doi:10.1001/jamadermatol.2015.0643. ISSN 2168-6068. PMID 26070005.
40. ^ Fistarol, Susanna K.; Itin, Peter H. (2012). "Diagnosis and Treatment of Lichen Sclerosus". American Journal of Clinical Dermatology. 14 (1): 27–47. doi:10.1007/s40257-012-0006-4. ISSN 1175-0561. PMC 3691475. PMID 23329078.
41. ^ Smith, Yolanda R; Haefner, Hope K (2004). "Vulvar Lichen Sclerosus". American Journal of Clinical Dermatology. 5 (2): 105–125. doi:10.2165/00128071-200405020-00005. ISSN 1175-0561. PMID 15109275.
42. ^ Neill SM, Tatnall FM, Cox NH. Guidelines for the management of lichen sclerosus. Br J Dermatol 2002;147:640-9.
43. ^ Powell, J.; Robson, A.; Cranston, D.; Wojnarowska, F.; Turner, R. (2001). "High incidence of lichen sclerosus in patients with squamous cell carcinoma of the penis". British Journal of Dermatology. 145 (1): 85–89. doi:10.1046/j.1365-2133.2001.04287.x. ISSN 0007-0963. PMID 11453912.
44. ^ Windahl, T. (2009). "Is carbon dioxide laser treatment of lichen sclerosus effective in the long run?". Scandinavian Journal of Urology and Nephrology. 40 (3): 208–211. doi:10.1080/00365590600589666. ISSN 0036-5599. PMID 16809261.
45. ^ Casabona, Francesco; Gambelli, Ilaria; Casabona, Federica; Santi, Pierluigi; Santori, Gregorio; Baldelli, Ilaria (2017). "Autologous platelet-rich plasma (PRP) in chronic penile lichen sclerosus: the impact on tissue repair and patient quality of life". International Urology and Nephrology. 49 (4): 573–580. doi:10.1007/s11255-017-1523-0. ISSN 0301-1623. PMID 28161837.
46. ^ Smith SD, Fischer G (2009). "Childhood onset vulvar lichen sclerosus does not resolve at puberty: a prospective case series". Pediatr Dermatol. 26 (6): 725–9. doi:10.1111/j.1525-1470.2009.01022.x. PMID 20199450.
47. ^ Nasca, MR; Innocenzi, D; Micali, G (1999). "Penile cancer among patients with genital lichen sclerosus". J Am Acad Dermatol. 41 (6): 911–914. doi:10.1016/S0190-9622(99)70245-8. PMID 10570372.
48. ^ Poulsen, H; Junge, J; Vyberg, M; Horn, T; Lundvall, F (2003). "Small vulvar squamous cell carcinomas and adjacent tissues. A morphologic study". APMIS. 111 (9): 835–842. doi:10.1034/j.1600-0463.2003.1110901.x. PMID 14510640.
49. ^ Barbagli, G; Palminteri, E; Mirri, F; Guazzoni, G; Turini, D; Lazzeri, M (2006). "Penile carcinoma in patients with genital lichen sclerosus: a multicenter survey". J Urol. 175 (4): 1359–1363. doi:10.1016/S0022-5347(05)00735-4. PMID 16515998.
50. ^ Rotondo JC, Borghi A, Selvatici R, Mazzoni E, Bononi I, Corazza M, Kussini J, Montinari E, Gafà R, Tognon M, Martini F (2018). "Association of Retinoic Acid Receptor β Gene With Onset and Progression of Lichen Sclerosus-Associated Vulvar Squamous Cell Carcinoma". JAMA Dermatology. 154 (7): 819–823. doi:10.1001/jamadermatol.2018.1373. PMC 6128494. PMID 29898214.
51. ^ van de Nieuwenhof, HP; van der Avoort, IA; de Hullu, JA (2008). "Review of squamous premalignant vulvar lesions". Crit Rev Oncol Hematol. 68 (2): 131–156. doi:10.1016/j.critrevonc.2008.02.012. PMID 18406622.
52. ^ Henquet, CJ (Aug 2011). "Anogenital malignancies and pre-malignancies". Journal of the European Academy of Dermatology and Venereology : JEADV. 25 (8): 885–95. doi:10.1111/j.1468-3083.2010.03969.x. PMID 21272092.
53. ^ Rotondo JC, Borghi A, Selvatici R, Magri E, Bianchini E, Montinari E, Corazza M, Virgili A, Tognon M, Martini F (2016). "Hypermethylation-Induced Inactivation of the IRF6 Gene as a Possible Early Event in Progression of Vulvar Squamous Cell Carcinoma Associated With Lichen Sclerosus". JAMA Dermatology. 152 (8): 928–33. doi:10.1001/jamadermatol.2016.1336. PMID 27223861.
54. ^ Halonen, Pia; Jakobsson, Maija; Heikinheimo, Oskari; Riska, Annika; Gissler, Mika; Pukkala, Eero (2017). "Lichen sclerosus and risk of cancer". International Journal of Cancer. 140 (9): 1998–2002. doi:10.1002/ijc.30621. ISSN 0020-7136. PMID 28124469.
55. ^ Pietrzak, Peter; Hadway, Paul; Corbishley, Cathy M.; Watkin, Nicholas A. (2006). "Is the association between balanitis xerotica obliterans and penile carcinoma underestimated?". BJU International. 98 (1): 74–76. doi:10.1111/j.1464-410X.2006.06213.x. ISSN 1464-4096. PMID 16831147.
56. ^ Fistarol, Susanna K (2013). "Diagnosis and treatment of lichen sclerosus: an update". Journal of the American Academy of Dermatology. 14 (1): 27–47. doi:10.1007/s40257-012-0006-4. PMC 3691475. PMID 23329078.
57. ^ Kizer WS, Prairie T, Morey AF. Balanitis xerotica obliterans: epidemiologic distribution in an equal access health care system. South Med J 2003;96(1):9-11
58. ^ Hallopeau, H (1887). "Du lichen plan et particulièrement de sa forme atrophique: lichen plan scléreux". Ann Dermatol Syphiligr (Paris) (8): 790–791.
59. ^ Friedrich Jr., EG (1976). "Lichen sclerosus". J Reprod Med. 17 (3): 147–154. PMID 135083.
## External links[edit]
Classification
D
* ICD-10: L90.0
* ICD-9-CM: 701.0
* MeSH: D018459
External resources
* eMedicine: derm/234
* NIAMS – Questions and Answers About Lichen Sclerosus
* NIAMS – Fast Facts About Lichen Sclerosus
* dermnetnz.org
* better medicine
* Medscape Reference Author: Jeffrey Meffert, MD; Chief Editor: Dirk M Elston, MD
Medical Pictures
* http://www.dermlectures.com/LecturesWMV.cfm?lectureID=88
* https://web.archive.org/web/20070927210529/http://dermis.multimedica.de/dermisroot/de/34088/diagnose.htm
* https://web.archive.org/web/20071008130921/http://dermnetnz.org/immune/ls-imgs.html
* v
* t
* e
Cutaneous keratosis, ulcer, atrophy, and necrobiosis
Epidermal thickening
* keratoderma: Keratoderma climactericum
* Paraneoplastic keratoderma
* Acrokeratosis paraneoplastica of Bazex
* Aquagenic keratoderma
* Drug-induced keratoderma
* psoriasis
* Keratoderma blennorrhagicum
* keratosis: Seborrheic keratosis
* Clonal seborrheic keratosis
* Common seborrheic keratosis
* Irritated seborrheic keratosis
* Seborrheic keratosis with squamous atypia
* Reticulated seborrheic keratosis
* Dermatosis papulosa nigra
* Keratosis punctata of the palmar creases
* other hyperkeratosis: Acanthosis nigricans
* Confluent and reticulated papillomatosis
* Callus
* Ichthyosis acquisita
* Arsenical keratosis
* Chronic scar keratosis
* Hyperkeratosis lenticularis perstans
* Hydrocarbon keratosis
* Hyperkeratosis of the nipple and areola
* Inverted follicular keratosis
* Lichenoid keratosis
* Multiple minute digitate hyperkeratosis
* PUVA keratosis
* Reactional keratosis
* Stucco keratosis
* Thermal keratosis
* Viral keratosis
* Warty dyskeratoma
* Waxy keratosis of childhood
* other hypertrophy: Keloid
* Hypertrophic scar
* Cutis verticis gyrata
Necrobiosis/granuloma
Necrobiotic/palisading
* Granuloma annulare
* Perforating
* Generalized
* Subcutaneous
* Granuloma annulare in HIV disease
* Localized granuloma annulare
* Patch-type granuloma annulare
* Necrobiosis lipoidica
* Annular elastolytic giant-cell granuloma
* Granuloma multiforme
* Necrobiotic xanthogranuloma
* Palisaded neutrophilic and granulomatous dermatitis
* Rheumatoid nodulosis
* Interstitial granulomatous dermatitis/Interstitial granulomatous drug reaction
Foreign body granuloma
* Beryllium granuloma
* Mercury granuloma
* Silica granuloma
* Silicone granuloma
* Zirconium granuloma
* Soot tattoo
* Tattoo
* Carbon stain
Other/ungrouped
* eosinophilic dermatosis
* Granuloma faciale
Dermis/
localized CTD
Cutaneous lupus
erythematosus
* chronic: Discoid
* Panniculitis
* subacute: Neonatal
* ungrouped: Chilblain
* Lupus erythematosus–lichen planus overlap syndrome
* Tumid
* Verrucous
* Rowell's syndrome
Scleroderma/
Morphea
* Localized scleroderma
* Localized morphea
* Morphea–lichen sclerosus et atrophicus overlap
* Generalized morphea
* Atrophoderma of Pasini and Pierini
* Pansclerotic morphea
* Morphea profunda
* Linear scleroderma
Atrophic/
atrophoderma
* Lichen sclerosus
* Anetoderma
* Schweninger–Buzzi anetoderma
* Jadassohn–Pellizzari anetoderma
* Atrophoderma of Pasini and Pierini
* Acrodermatitis chronica atrophicans
* Semicircular lipoatrophy
* Follicular atrophoderma
* Linear atrophoderma of Moulin
Perforating
* Kyrle disease
* Reactive perforating collagenosis
* Elastosis perforans serpiginosa
* Perforating folliculitis
* Acquired perforating dermatosis
Skin ulcer
* Pyoderma gangrenosum
Other
* Calcinosis cutis
* Sclerodactyly
* Poikiloderma vasculare atrophicans
* Ainhum/Pseudo-ainhum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Lichen sclerosus | c0023652 | 7,239 | wikipedia | https://en.wikipedia.org/wiki/Lichen_sclerosus | 2021-01-18T18:29:21 | {"gard": ["6905"], "mesh": ["D018459"], "umls": ["C0023652"], "icd-9": ["701.0"], "icd-10": ["L90.0"], "orphanet": ["33409"], "wikidata": ["Q1641400"]} |
A number sign (#) is used with this entry because this form of congenital muscular dystrophy (MDC) is caused by heterozygous mutation in the gene encoding lamin A/C (LMNA; 150330) on chromosome 1q22.
See also Emery-Dreifuss muscular dystrophy-2 (EDMD2; 181350), an allelic disorder with overlapping features.
Clinical Features
Mercuri et al. (2004) reported a patient with LMNA-related congenital muscular dystrophy. The infant lost the ability to roll over at age 5 months, and later showed difficulties in lifting her arms and head. Other features included feeding difficulties, requiring a nasogastric tube, marked axial and limb weakness, talipes foot deformities, and increased serum creatine kinase. She also had a narrow chest and a predominantly diaphragmatic pattern of breathing.
D'Amico et al. (2005) reported an 18-month-old boy with so-called 'dropped head syndrome,' characterized by prominent neck extension weakness. His primary motor milestones were within the normal range, but he had difficulty holding up his head and problems walking at age 12 months. Neurological examination at 15 months confirmed significant neck extensor weakness with mild axial and limb girdle weakness. However, the boy could walk alone, walk up stairs, and rise from a chair, and there was no significant decrease in distal muscle strength. Cardiac examination was normal. Genetic analysis identified a de novo heterozygous 3-bp deletion in the LMNA gene (150330.0050).
Quijano-Roy et al. (2008) described a form of congenital muscular dystrophy with onset in the first year of life in 15 unrelated children. Three patients had severe early-onset disease, with decreased fetal movements in utero, no motor development, severe hypotonia, diffuse limb and axial muscle weakness and atrophy, and talipes foot deformities. There were contractures in the distal limb joints, stiff and hyperextensible spine, and neck weakness. All 3 infants required mechanical ventilation at some point, and 2 of the patients had evidence of cardiac arrhythmia. The remaining 12 children initially acquired head and trunk control and independent ambulation, but most lost head control due to neck extensor weakness, a phenotype consistent with 'dropped head syndrome.' Despite variable severity, there was a consistent clinical pattern overall among the 15 patients. They typically presented with selective axial weakness and wasting of the cervicoaxial muscles. Limb involvement was predominantly proximal in upper extremities and distal in lower extremities. Talipes feet and a rigid spine with thoracic lordosis developed early. Proximal contractures appeared later, most often in lower limbs, sparing the elbows. Ten children required ventilatory support. Cardiac arrhythmias were observed in 4 of the oldest patients, but were symptomatic only in 1. Creatine kinase levels were mild to moderately increased. Muscle biopsies showed dystrophic changes in 9 children and nonspecific myopathic changes in the remaining. Quijano-Roy et al. (2008) concluded that the LMNA mutations identified appeared to correlate with a relatively severe phenotype, broadening the spectrum of laminopathies. The authors suggested that this group of patients may define a new disease entity, which they designated LMNA-related congenital muscular dystrophy.
### Early-Onset Myopathy with Progeroid Features
Kirschner et al. (2005) described a young girl with a phenotype combining early-onset myopathy with progeroid features who was found to have a de novo heterozygous mutation in the LMNA gene (S143F; 150330.0034). The child presented during the first year of life with myopathy with marked axial weakness; progeroid features, including growth failure, sclerodermatous skin changes, and osteolytic lesions, developed later. Routine examination at the age of 8 years revealed a mediolateral myocardial infarction. Although LMNA mutations are known to cause Hutchinson-Gilford progeria (HGPS; 176670) and muscular dystrophy, this was the first report of a patient combining features of these 2 phenotypes resulting from a single mutation in LMNA.
Molecular Genetics
In a patient with LMNA-related congenital muscular dystrophy, Mercuri et al. (2004) identified a de novo heterozygous mutation in the LMNA gene (E3358K; 150330.0049). Four additional unrelated patients with less severe muscular dystrophy (EDMD2; 181350) carried the same mutation.
In 15 children with congenital muscular dystrophy, Quijano-Roy et al. (2008) identified 11 different de novo heterozygous mutations in the LMNA gene (see, e.g., 150330.0047-150330.0049).
INHERITANCE \- Autosomal dominant GROWTH Other \- Failure to thrive HEAD & NECK Neck \- Neck muscle weakness \- Floppy neck \- Loss of head control CARDIOVASCULAR Heart \- Conduction abnormalities (less common) RESPIRATORY \- Respiratory insufficiency due to muscle weakness SKELETAL \- Joint contractures Spine \- Rigid spine \- Stiff spine Limbs \- Elbow laxity Feet \- Talipes foot deformities MUSCLE, SOFT TISSUES \- Muscle weakness, severe, proximal and distal \- Generalized amyotrophy \- Hypotonia, severe \- Axial weakness \- Head drop due to neck muscle weakness \- Dystrophic features and atrophic fibers seen on muscle biopsy \- Variability in fiber size NEUROLOGIC Central Nervous System \- Delayed motor development PRENATAL MANIFESTATIONS Movement \- Decreased fetal movements LABORATORY ABNORMALITIES \- Increased serum creatine kinase MISCELLANEOUS \- Prenatal onset or onset in infancy \- Variable severity \- Progressive disorder \- Patients who acquire ability to walk may lose it MOLECULAR BASIS \- Caused by mutation in the lamin A/C gene (LMNA, 150330.0047 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED | c2750785 | 7,240 | omim | https://www.omim.org/entry/613205 | 2019-09-22T15:59:21 | {"doid": ["0110640"], "mesh": ["C567708"], "omim": ["613205"], "orphanet": ["157973"], "synonyms": ["Alternative titles", "MDCL"]} |
A number sign (#) is used with this entry because of evidence that X-linked spermatogenic failure-2 (SPGFX2) is caused by hemizygous mutation in the TEX11 gene (300311) on chromosome Xq13.
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Clinical Features
In 3 males in 2 generations and 3 sibships, related through females, Chaganti and German (1979) observed infertility. Testicular tissue from the propositus showed desynapsis, lack of chiasmata and degeneration of spermatocytes during the first meiotic division. X-linked recessive and male-limited autosomal dominant inheritance were considered possibilities. (See 258150 for evidence of an autosomal recessive defect.) 'Bare patches' (Bpa) in mice is a semidominant X-linked trait associated with high frequency of XO females.
Molecular Genetics
By genomewide microarray analysis on DNA from 15 unrelated men of European descent with azoospermia, Yatsenko et al. (2015) identified a 90-kb hemizygous loss encompassing part of the TEX11 gene on chromosome Xq13.1 (300311.0001) in a patient with mixed testicular atrophy. Analysis of TEX11 in 48 additional azoospermic men of European descent revealed 2 more TEX11 mutations: a missense mutation (M171V; 300311.0002) in a man with meiotic arrest, and the same deletion as in the first patient in another man with meiotic arrest. In addition, sequencing revealed that 4 (1.7%) of 240 German men with azoospermia had mutations in TEX11, including 1 missense mutation (A598T; 300311.0003) and 3 splice site mutations (see, e.g., 300311.0004). None of the mutations were found in 384 men with normal sperm concentrations, although 3 were present in heterozygosity in female carriers in the dbSNP database (frequency, 0.1-0.2%). Overall, TEX11 mutations were detected in 7 (2.4%) of 289 patients, including 5 (15%) of 33 men with meiotic arrest and in 2 (1%) of 193 men with mixed testicular atrophy. No mutations were identified in 63 azoospermic men with Sertoli cell-only syndrome (see 305700).
INHERITANCE \- X-linked recessive GENITOURINARY Internal Genitalia (Male) \- Infertility \- Azoospermia \- Meiotic arrest \- Mixed testicular atrophy MOLECULAR BASIS \- Caused by mutation in the testis-expressed gene-11 gene (TEX11, 300311.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| SPERMATOGENIC FAILURE, X-LINKED, 2 | c1839841 | 7,241 | omim | https://www.omim.org/entry/309120 | 2019-09-22T16:17:53 | {"doid": ["0070185"], "omim": ["309120"], "orphanet": ["399805"], "synonyms": ["Alternative titles", "MALE INFERTILITY FROM DEFECT IN MEIOSIS"]} |
This article is about molybdenum deficiency in humans. For the same deficiency in plants, see Molybdenum deficiency (plant disorder).
Molybdenum deficiency
Molybdenum
SpecialtyEndocrinology
Molybdenum deficiency refers to the clinical consequences of inadequate supplies of molybdenum in the diet.
The amount of molybdenum required is relatively small, and molybdenum deficiency usually does not occur in natural settings.[1] However, it can occur in individuals receiving parenteral nutrition.[2][3]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 Further reading
* 7 External links
## Signs and symptoms[edit]
Descriptions of human molybdenum deficiency are few. A patient receiving prolonged parenteral nutrition acquired a syndrome described as ‘acquired molybdenum deficiency.’ This syndrome, exacerbated by methionine administration, was characterized by high blood methionine, low blood uric acid, and low urinary uric acid and sulfate concentrations. The patient suffered mental disturbances that progressed to a coma.[1] Pathological changes occurring in individuals with a genetic disease that results in a sulfite oxidase (a molybdoenzyme) deficiency include increased plasma and urine sulfite, sulfate, thiosulfate, S-sulfocysteine and taurine; seizures, and brain atrophy/lesions; dislocated lenses; and death at an early age..
## Diagnosis[edit]
This section is empty. You can help by adding to it. (November 2017)
## Treatment[edit]
This section is empty. You can help by adding to it. (November 2017)
300 mcg Ammonium Molybdate per day can cause recovery of “acquired molybdenum deficiency” [3]
## See also[edit]
* Molybdenum cofactor deficiency
## References[edit]
1. ^ a b "Molybdenum". Linus Pauling Institute. Oregon State University. Retrieved 2008-11-29.
2. ^ Sardesai VM (December 1993). "Molybdenum: an essential trace element". Nutrition in Clinical Practice. 8 (6): 277–81. doi:10.1177/0115426593008006277. PMID 8302261.
3. ^ Johnson LE (October 2018). "Molybdenum: Mineral Deficiency and Toxicity". Merck Manual Professional. Merck Sharp & Dohme Corp. Retrieved 2008-11-29.
## Further reading[edit]
* Nielsen FH (April 2003). "Trace Elements". In Caballero B, Finglas P, Toldra F (eds.). Encyclopedia of Food Sciences and Nutrition (Second ed.). Academic Press. pp. 5820–28. doi:10.1016/B0-12-227055-X/01204-9. ISBN 978-0-12-227055-0.
## External links[edit]
Classification
D
* ICD-10: E61.5
* v
* t
* e
Malnutrition
Protein-energy
malnutrition
* Kwashiorkor
* Marasmus
* Catabolysis
Vitamin deficiency
B vitamins
* B1
* Beriberi
* Wernicke–Korsakoff syndrome
* Wernicke's encephalopathy
* Korsakoff's syndrome
* B2
* Riboflavin deficiency
* B3
* Pellagra
* B6
* Pyridoxine deficiency
* B7
* Biotin deficiency
* B9
* Folate deficiency
* B12
* Vitamin B12 deficiency
Other
* A: Vitamin A deficiency
* Bitot's spots
* C: Scurvy
* D: Vitamin D deficiency
* Rickets
* Osteomalacia
* Harrison's groove
* E: Vitamin E deficiency
* K: Vitamin K deficiency
Mineral deficiency
* Sodium
* Potassium
* Magnesium
* Calcium
* Iron
* Zinc
* Manganese
* Copper
* Iodine
* Chromium
* Molybdenum
* Selenium
* Keshan disease
Growth
* Delayed milestone
* Failure to thrive
* Short stature
* Idiopathic
General
* Anorexia
* Weight loss
* Cachexia
* Underweight
This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Molybdenum deficiency | c0342928 | 7,242 | wikipedia | https://en.wikipedia.org/wiki/Molybdenum_deficiency | 2021-01-18T18:42:59 | {"umls": ["C0342928"], "icd-10": ["E61.5"], "wikidata": ["Q6896947"]} |
Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.
## Epidemiology
Nipah virus disease is endemic to south Asia, where sporadic outbreaks have been noted in Malaysia, Singapore, India, and Bangladesh since the virus was first isolated in 1999. Less than 20 cases are typically reported per year worldwide, although systematic surveillance is lacking.
## Clinical description
The incubation period is typically 4-20 days. Patients usually present with fever, malaise, headache, myalgia, sore throat, nausea and vomiting, sometimes accompanied by vertigo and disorientation. Severe cases progress to encephalitis, which may be complicated by seizures and coma. Atypical pneumonia, sometimes leading to the acute respiratory distress syndrome, may be seen. Asymptomatic infections have been documented. Cases of relapse occurring weeks or even months after recovery have also been described. Neurologic sequelae occur in up to 20% of survivors of Nipah encephalitis and include persistent seizures and personality or mood changes.
## Etiology
Nipah virus is a member of the Paramyxoviridae family, genus Henipavirus. The virus appears to be maintained in fruit bats (Pteropus genus), which may infect humans through direct exposure to their saliva or excreta, including through contaminated food, especially palm tree sap. Bats may also transmit the virus to intermediate hosts, especially pigs, which develop respiratory disease and may pass the virus on to humans. Serologic evidence of infection has also been noted in cats, dogs and horses. Swine farmers and abattoir workers are at increased risk. Human-to-human transmission has been occasionally noted through exposure to bodily fluids.
## Diagnostic methods
Common diagnostic modalities include cell culture (restricted to biosafety level-4 laboratories), serologic testing by enzyme linked immunosorbent assay (ELISA) or indirect fluorescent antibody (IFA), and reverse transcription polymerase chain reaction (RT-PCR). Because no commercial assays are presently available, these tests are typically performed only in a few specialized laboratories.
## Differential diagnosis
Nipah virus disease is difficult to distinguish from a host of other febrile illnesses, at least during its onset. More common causes of viral pneumonia, including adenovirus and influenza, and viral encephalitis, in particular Japanese encephalitis (see this term), which is also transmitted by swine, need to be excluded.
## Management and treatment
Patients should be isolated and precautions (face shields, surgical masks, double gloves, surgical gowns and aprons) should be used to prevent nosocomial transmission. As there is presently no antiviral drug available for Nipah virus disease, treatment is supportive. Ribavirin has been used on a few patients but its efficacy for Nipah virus disease has not yet been determined.
## Prognosis
The case-fatality varies from 40-70% depending on whether encephalitic or severe manifestations are noted and whether adequate healthcare facilities are available. Advanced age, underlying diabetes, and neurological symptoms confer a poor prognosis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Nipah virus disease | None | 7,243 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99825 | 2021-01-23T17:52:39 | {"icd-10": ["A98.8"], "synonyms": ["Nipah encephalitis", "Nipah fever"]} |
Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage (deficiency) of the factor XI protein, which is involved in blood clotting. This condition is classified as either partial or severe based on the degree of deficiency of the factor XI protein. However, regardless of the severity of the protein deficiency, most affected individuals have relatively mild bleeding problems, and some people with this disorder have few if any symptoms. The most common feature of factor XI deficiency is prolonged bleeding after trauma or surgery, especially involving the inside of the mouth and nose (oral and nasal cavities) or the urinary tract. If the bleeding is left untreated after surgery, solid swellings consisting of congealed blood (hematomas) can develop in the surgical area.
Other signs and symptoms of this disorder can include frequent nosebleeds, easy bruising, bleeding under the skin, and bleeding of the gums. Women with this disorder can have heavy or prolonged menstrual bleeding (menorrhagia) or prolonged bleeding after childbirth. In contrast to some other bleeding disorders, spontaneous bleeding into the urine (hematuria), gastrointestinal tract, or skull cavity are not common in factor XI deficiency, although they can occur in severely affected individuals. Bleeding into the muscles or joints, which can cause long-term disability in other bleeding disorders, generally does not occur in this condition.
## Frequency
Factor XI deficiency is estimated to affect approximately 1 in 1 million people worldwide. The severe deficiency disorder is much more common in people with central and eastern European (Ashkenazi) Jewish ancestry, occurring in about 1 in 450 individuals in that population. Researchers suggest that the actual prevalence of factor XI deficiency may be higher than reported, because mild cases of the disorder often do not come to medical attention.
## Causes
Most cases of factor XI deficiency are caused by mutations in the F11 gene, which provides instructions for making the factor XI protein. This protein plays a role in the coagulation cascade, which is a series of chemical reactions that forms blood clots in response to injury. After an injury, clots seal off blood vessels to stop bleeding and trigger blood vessel repair.
Mutations in the F11 gene result in a shortage (deficiency) of functional factor XI. This deficiency impairs the coagulation cascade, slowing the process of blood clotting and leading to the bleeding problems associated with this disorder. The amount of functional factor XI remaining varies depending on the particular mutation and whether one or both copies of the F11 gene in each cell have mutations. However, the severity of the bleeding problems in affected individuals does not necessarily correspond to the amount of factor XI in the bloodstream, and can vary even within the same family. Other genetic and environmental factors likely play a role in determining the severity of this condition.
Some cases of factor XI deficiency are not caused by F11 gene mutations. In these cases, the condition is called acquired factor XI deficiency. It can be caused by other disorders such as conditions in which the immune system malfunctions and attacks the factor XI protein. Because factor XI is made primarily by cells in the liver, acquired factor XI deficiency can also occur as the result of severe liver disease or receiving a transplanted liver from an affected individual. In addition, approximately 25 percent of people with another disorder called Noonan syndrome have factor XI deficiency.
### Learn more about the gene associated with Factor XI deficiency
* F11
## Inheritance Pattern
Severe factor XI deficiency is passed down in an autosomal recessive pattern, which means both copies of the F11 gene in each cell have mutations. The parents of these individuals each carry one copy of the mutated gene and have partial factor XI deficiency; they rarely show severe signs and symptoms of the condition.
In some families, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered F11 gene in each cell is sufficient to cause the disorder. In these cases, an affected person has one parent with the condition.
The acquired form of factor XI deficiency is not inherited and does not run in families.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Factor XI deficiency | c0015523 | 7,244 | medlineplus | https://medlineplus.gov/genetics/condition/factor-xi-deficiency/ | 2021-01-27T08:25:41 | {"gard": ["9670"], "mesh": ["D005173"], "omim": ["612416"], "synonyms": []} |
Paragraphia is a condition which results in the use of unintended letters or phonemes, words or syllables when writing. This is typically an acquired disorder derived from brain damage and it results in a diminished ability to effectively use written expression.[1]
Paragraphias can be classified as function of the type of writing errors: literal paragraphias, graphemic paragraphias and morphemic paragraphias. [2]
## References[edit]
1. ^ Paragraphia, Roberta DePompei, Encyclopedia of Clinical Neuropsycology
2. ^ Neuropsycolinguistic Perspectives on Language Cogntition
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Paragraphia | c0234492 | 7,245 | wikipedia | https://en.wikipedia.org/wiki/Paragraphia | 2021-01-18T19:07:25 | {"wikidata": ["Q48999477"]} |
## Clinical Features
Al-Gazali et al. (1994) reported 2 sibs, born of consanguineous Sudanese parents, with multiple congenital abnormalities including prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease, and early lethality. Al-Gazali et al. (1999) described 2 additional sibs, from a highly inbred Palestinian family, with joint contractures, skeletal abnormalities, anterior segment anomalies of the eye, and early lethality. They suggested autosomal inheritance of the disorder in both families.
Thong et al. (2005) reported 2 sibs, born of second-cousin Malaysian parents, with multiple skeletal abnormalities, anterior segment anomalies of the eye, and early lethality. The parents' reproductive history included 3 spontaneous abortions, 1 male stillbirth, and 4 male live births. Of the 4 live births, only 2 were affected with clinical features of al-Gazali syndrome. The affected boys had intrauterine growth retardation, bilateral talipes equinovarus, contractures of the large joints, camptodactyly, multiple fractures, and abnormalities of the anterior segment of the eyes. Each died within the first year of life, one at 7 months and the second at 1 month.
Inheritance
The transmission pattern of the disorder in the families reported by al-Gazali et al. (1994, 1999) was consistent with autosomal recessive inheritance.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| AL-GAZALI SYNDROME | c1836121 | 7,246 | omim | https://www.omim.org/entry/609465 | 2019-09-22T16:06:01 | {"mesh": ["C536817"], "omim": ["609465"], "orphanet": ["2725"], "synonyms": ["Al Gazali-Al Talabani syndrome", "Al Gazali-Lytle syndrome"]} |
Hemosuccus pancreaticus
Other namesPseudohematobilia, Wirsungorrhage
SpecialtyGastroenterology
Hemosuccus pancreaticus is a rare cause of hemorrhage in the gastrointestinal tract. It is caused by a bleeding source in the pancreas, pancreatic duct, or structures adjacent to the pancreas, such as the splenic artery, that bleed into the pancreatic duct, which is connected with the bowel at the duodenum, the first part of the small intestine. Patients with hemosuccus may develop symptoms of gastrointestinal hemorrhage, such as blood in the stools, maroon stools, or melena, which is a dark, tarry stool caused by digestion of red blood cells. They may also develop abdominal pain. It is associated with pancreatitis, pancreatic cancer and aneurysms of the splenic artery. Hemosuccus may be identified with endoscopy (esophagogastroduodenoscopy), where fresh blood may be seen from the pancreatic duct. Alternatively, angiography may be used to inject the celiac axis to determine the blood vessel that is bleeding. This may also be used to treat hemosuccus, as embolization of the end vessel may terminate the hemorrhage. However, a distal pancreatectomy—surgery to remove of the tail of the pancreas—may be required to stop the hemorrhage.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Testing and diagnosis
* 4 Treatment
* 5 History
* 6 References
* 7 External links
## Signs and symptoms[edit]
Hemosuccus pancreaticus is a rare entity, and estimates of its rate are based on small case series.[1][2] It is the least frequent cause of upper gastrointestinal bleeding (1/1500) and is most often caused by chronic pancreatitis, pancreatic pseudocysts, or pancreatic tumors.[3] As a result, the diagnosis may easily be overlooked.[4] The usual presentation of hemosuccus is the development of symptoms of upper or lower gastrointestinal bleeding, such as melena (or dark, black tarry stools), maroon stools, or hematochezia, which is frank rectal bleeding. The source of hemorrhage is usually not determined by standard endoscopic techniques, and the symptoms of the condition are usually grouped as a cause of obscure overt gastrointestinal hemorrhage. Over one-half of patients with hemosuccus also develop abdominal pain, usually located in the epigastrium, or uppermost part of the abdomen. The pain is described as being "crescendo-decrescendo" in nature, meaning that it increases and decreases in intensity slowly with time. This is thought to be due to transient blockage of the pancreatic duct from the source of bleeding, or from clots.[1] If the source of the bleeding also involves obstruction of the common bile duct (such as with some tumours of the head of the pancreas), the patient may develop jaundice, or "silver stools", an uncommon finding of acholic stools mixed with blood.[5]
## Causes[edit]
The causes of hemosuccus pancreaticus can be grouped into diseases of the pancreas and diseases of the vascular structures around the pancreas. Diseases of the pancreas include acute and chronic pancreatitis,[6] pancreatic cancer,[2] pancreatic duct stones,[7] ruptured aneurysms of the splenic artery,[4] and pseudoaneurysms of the splenic artery[8] and hepatic artery.[9] Pseudoaneurysms are complications of pancreatitis where a pseudocyst is formed, with one wall abutting an artery, usually the splenic artery. Should the arterial wall rupture, the pseudoaneurysm will hemorrhage into the pancreatic duct.
Rarely the bleeding is not channeled into the bowel from the main pancreatic duct (or duct of Wirsung), but rather comes from the accessory pancreatic duct (or duct of Santorini). The former is termed Wirsungorrhage and the latter is termed Santorinirrhage. Bleeding from the duct of Santorini can be caused by pancreas divisum, a possible congenital cause of pancreatitis.[10]
## Testing and diagnosis[edit]
The pancreatic duct orifice is seen on the side of the duodenum, at the ampulla of Vater, which may necessitate the use of side-viewing endoscopes to diagnose hemosuccus pancreaticus
The diagnosis of hemosuccus pancreaticus can be difficult to make. Most patients who develop bleeding in the gastrointestinal tract have endoscopic procedures done to visualize the bowel in order to find and treat the source of the bleeding. With hemosuccus, the bleeding is coming from the pancreatic duct which enters into the first part of the small intestine, termed the duodenum. Typical gastroscopes used to visualize the esophagus, stomach and duodenum are designed with fiber-optic illumination that is directed in the same direction as the endoscope, meaning that visualization is in the forward direction. However, the pancreatic duct orifice is located on the side of the duodenum, meaning that it can be missed on forward-viewing endoscopy. A side-viewing endoscope (known as a duodenoscope, or side-viewer) used for endoscopic retrograde cholangiopancreatography (ERCP), a procedure to visualize the bile ducts and pancreatic duct on fluoroscopy, can be used to localize the bleeding to the pancreatic duct.[11][12] It can be confused with bleeding from the common bile duct on endoscopy, leading to the term pseudohematobilia.
Liver function test is normal apart from an increased serum bilirubin in the event of pancreaticobiliary reflux. Serum amylase is normal outside episodes of acute pancreatitis. It is difficult to diagnose HP because the bleeding is usually intermittent. Endoscopy is essential in ruling out other causes of upper gastrointestinal bleeding and in rare cases; active bleeding can be seen from the duodenal ampulla. Even though endoscopy may be normal, it helps to rule out other causes of upper digestive bleeding (erosive gastritis, peptic ulcers, and oesophageal and gastric fundus varices, etc.). Ultrasonography can be used to visualize pancreatic pseudocysts or aneurysm of the peripancreatic arteries. Doppler ultrasound or dynamic ultrasound has been reported to be diagnostic. Contrast-enhanced CT is an excellent modality for demonstrating the pancreatic pathology and can also demonstrate features of chronic pancreatitis, pseudocysts, and pseudoaneurysms. On precontrast CT, the characteristic finding of clotted blood in the pancreatic duct, known as the sentinel clot, is seldom seen. Computed tomography may show simultaneous opacification of an aneurysmal artery and pseudocyst or persistence of contrast within a pseudocyst after the arterial phase. Again, these findings are only suggestive of the diagnosis. Ultimately, angiography is the diagnostic reference standard. Angiography identifies the causative artery and allows for delineation of the arterial anatomy and therapeutic intervention.[3] [13]
## Treatment[edit]
Treatment of hemosuccus pancreaticus depends on the source of the hemorrhage. If the bleeding is identified on angiography to be coming from a vessel that is small enough to occlude, embolization through angiography may stop the bleeding.[3] Both coils in the end-artery and stents across the area of bleeding have been used to control the hemorrhage.[14] However, the bleeding may be refractory to the embolization, which would necessitate surgery to remove the pancreas at the source of hemorrhage. Also, the cause of bleeding may be too diffuse to be treated with embolization (such as with pancreatitis or with pancreatic cancer). This may also require surgical therapy, and usually a distal pancreatectomy, or removal of the part of the pancreas from the area of bleeding to the tail, is required.[1][3][4]
## History[edit]
Hemosuccus pancreaticus was first described as a cause of hemorrhage in 1931 by Lower and Farrell, who described an aneurysm of the splenic artery causing bleeding through the pancreatic duct.[4][15] In 1969, Vankemmel proposed the term "wirsungorrhagia" (currently used in France).[16] In 1970, Sandblom published 3 cases and coined the term "hemosuccus pancreaticus" to describe the similarity of the disorder to the clinical syndrome of hemobilia.[17]
## References[edit]
1. ^ a b c Clay R, Farnell M, Lancaster J, Weiland L, Gostout C (1985). "Hemosuccus pancreaticus. An unusual cause of upper gastrointestinal bleeding". Ann Surg. 202 (1): 75–9. doi:10.1097/00000658-198507000-00012. PMC 1250840. PMID 3874611.
2. ^ a b Risti B, Marincek B, Jost R, Decurtins M, Ammann R (1995). "Hemosuccus pancreaticus as a source of obscure upper gastrointestinal bleeding: three cases and literature review". Am J Gastroenterol. 90 (10): 1878–80. PMID 7572914.
3. ^ a b c d Ashwin Rammohan; Ravichandran Palaniappan; Sukumar Ramaswami; Senthil Kumar Perumal; Anand Lakshmanan; U. P. Srinivasan; Ravi Ramasamy; Jeswanth Sathyanesan (2013). "Hemosuccus Pancreaticus: 15-Year Experience from a Tertiary Care GI Bleed Centre". ISRN Radiology. 2013 (191794): 6. doi:10.5402/2013/191794. PMC 4045512. PMID 24959558.
4. ^ a b c d Julianov A, Rachkov I, Karashmalakov A (2003). "Hemosuccus pancreaticus". Surgery. 133 (1): 114–5. doi:10.1067/msy.2003.90. PMID 12563247.
5. ^ Ong Y, Pintauro W (1979). "Silver stools". JAMA. 242 (22): 2433. doi:10.1001/jama.242.22.2433. PMID 490859.
6. ^ Kuganeswaran E, Smith O, Goldman M, Clarkston W (2000). "Hemosuccus pancreaticus: rare complication of chronic pancreatitis". Gastrointest Endosc. 51 (4 Pt 1): 464–5. doi:10.1016/S0016-5107(00)70246-X. PMID 10744821.
7. ^ Lacey S, Chak A (2001). "Hemosuccus pancreaticus: dorsal pancreatic duct stone and gastroduodenal artery pseudoaneurysm". Gastrointest Endosc. 54 (3): 363. doi:10.1067/mge.2001.116901. PMID 11522982.
8. ^ Cahow C, Gusberg R, Gottlieb L (1983). "Gastrointestinal hemorrhage from pseudoaneurysms in pancreatic pseudocysts". Am J Surg. 145 (4): 534–41. doi:10.1016/0002-9610(83)90054-5. PMID 6601464.
9. ^ Fernandez-Cruz L, Pera M, Vilella A, Llovera J, Navasa M, Teres J (1992). "Hemosuccus pancreaticus from a pseudoaneurysm of the hepatic artery proper in a patient with a pancreatic pseudocyst". Hepatogastroenterology. 39 (2): 149–51. PMID 1634182.
10. ^ Vázquez-Iglesias J, Durana J, Yañez J, Rodriguez H, Garcia-Vallejo L, Arnal F (1988). "Santorinirrhage: hemosuccus pancreaticus in pancreas divisum". Am J Gastroenterol. 83 (8): 876–8. PMID 3260745.
11. ^ Adler D, Petersen B, Gostout C (2004). "Hemosuccus pancreaticus". Gastrointest Endosc. 59 (6): 695. doi:10.1016/S0016-5107(04)00164-6. PMID 15114316.
12. ^ Rösch W, Schaffner O, Frühmorgen P, Koch H (1977). "Massive gastrointestinal hemorrhage into the pancreatic duct - diagnosed by duodenoscopy and ERCP". Endoscopy. 8 (2): 93–6. doi:10.1055/s-0028-1098385. PMID 301087.
13. ^ Etienne S, Pessaux P, Tuech J, Lada P, Lermite E, Brehant O, Arnaud J (2005). "Hemosuccus pancreaticus: a rare cause of gastrointestinal bleeding". Gastroenterol Clin Biol. 29 (3): 237–42. doi:10.1016/S0399-8320(05)80755-9. PMID 15864172.
14. ^ Benz C, Jakob P, Jakobs R, Riemann J (2000). "Hemosuccus pancreaticus--a rare cause of gastrointestinal bleeding: diagnosis and interventional radiological therapy". Endoscopy. 32 (5): 428–31. doi:10.1055/s-2000-638. PMID 10817187.
15. ^ Lower WE, Farrell JI (1931). "Aneurysm of the splenic artery: report of a case and review of the literature". Arch. Surg. 23: 182–90. doi:10.1001/archsurg.1931.01160080010002.
16. ^ Etienne S, Pessaux P, Tuech JJ, et al. (2005). ""Hemosuccus pancreaticus " a rare cause of gastrointestinal bleeding". Gastrointerol Clin Biol. 29: 237–42.
17. ^ Sandblom P (1970). "Gastrointestinal hemorrhage through the pancreatic duct". Ann. Surg. 171: 61–6. doi:10.1097/00000658-197001000-00009. PMC 1396580. PMID 5308032.
## External links[edit]
Classification
D
* ICD-10: K86
* ICD-9-CM: 577
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*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
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*[Diff]: Difference
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*[CAB]: combined androgen blockade
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| Hemosuccus pancreaticus | None | 7,247 | wikipedia | https://en.wikipedia.org/wiki/Hemosuccus_pancreaticus | 2021-01-18T18:56:52 | {"icd-9": ["577"], "icd-10": ["K86"], "wikidata": ["Q5712583"]} |
Amelanotic melanoma
Amelanotic melanoma on dog's toe
SpecialtyOncology, dermatology
Amelanotic melanoma is a type of skin cancer in which the cells do not make any melanin.[1]:696[2] They can be pink, red, purple or of normal skin color, and are therefore difficult to diagnose correctly. They can occur anywhere on the body, just as a typical melanoma can.
Often, amelanotic melanomas are mistaken for benign lesions, including dermatitis, benign neoplastic processes, or a different malignancy such as basal-cell carcinoma or squamous-cell carcinoma.[3] A poor prognosis is associated with amelanotic lesions, partially due to the difficulty in achieving a diagnosis; however, metastatic amelanotic melanoma has a worse prognosis than other subtypes.[3]
Survival after diagnosis of amelanotic melanoma was found in a 2014 seven-year study of 3,000 patients to be poorer than for pigmented melanoma, which was attributed to the more advanced stage at diagnosis due probably to difficulty of diagnosis. The study also suggested that amelanotic melanomas might grow faster than pigmented melanomas.[4]
## See also[edit]
* Melanoma
* List of cutaneous conditions
## References[edit]
1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
3. ^ a b Cabrera, Raúl; Recule, Francisca (2018). "Unusual Clinical Presentations of Malignant Melanoma: A Review of Clinical and Histologic Features with Special Emphasis on Dermatoscopic Findings". American Journal of Clinical Dermatology. 19 (Suppl 1): 15–23. doi:10.1007/s40257-018-0373-6. ISSN 1175-0561. PMC 6244635. PMID 30374898.
4. ^ Thomas, Nancy E.; Kricker, Anne; Waxweiler, Weston T.; et al. (2014). "Comparison of Clinicopathologic Features and Survival of Histopathologically Amelanotic and Pigmented Melanomas". JAMA Dermatology. 150 (12): 1306. doi:10.1001/jamadermatol.2014.1348. ISSN 2168-6068. PMC 4262611.
## External links[edit]
Classification
D
* ICD-10: C43 ILDS C43.L50)
* MeSH: D018328
* SNOMED CT: 70594002
* Amelanotic melanoma entry in the public domain NCI Dictionary of Cancer Terms
This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms".
* v
* t
* e
Skin cancer of nevi and melanomas
Melanoma
* Mucosal melanoma
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* lentigo
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* Acral lentiginous melanoma
* Amelanotic melanoma
* Desmoplastic melanoma
* Melanoma with features of a Spitz nevus
* Melanoma with small nevus-like cells
* Polypoid melanoma
* Nevoid melanoma
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Nevus/
melanocytic nevus
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* Spitz nevus
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* of Jadassohn–Tièche
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* Small-sized)
* Balloon cell nevus
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*[mRNA]: messenger RNA
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*[NSAAs]: nonsteroidal antiandrogens
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*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
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*[CAB]: combined androgen blockade
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*[CPA]: cyproterone acetate
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| Amelanotic melanoma | c0206735 | 7,248 | wikipedia | https://en.wikipedia.org/wiki/Amelanotic_melanoma | 2021-01-18T19:10:09 | {"mesh": ["D018328"], "umls": ["C0206735"], "icd-10": ["C43"], "wikidata": ["Q4742183"]} |
Enchondromatosis
SpecialtyMedical genetics
Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of enchondromas.
Ollier disease can be considered a synonym for enchondromatosis.[1] Maffucci syndrome is enchondromatosis with hemangiomatosis.[2]
## References[edit]
1. ^ "Ollier disease" at Dorland's Medical Dictionary
2. ^ Faik A, Allali F, El Hassani S, Hajjaj-Hassouni N (February 2006). "Maffucci's syndrome: a case report". Clin. Rheumatol. 25 (1): 88–91. doi:10.1007/s10067-005-1101-1. PMID 16234991.
## External links[edit]
Classification
D
* ICD-10: Q78.4
* ICD-9-CM: 756.4
* MeSH: D004687
* DiseasesDB: 9212
* SNOMED CT: 268274005
External resources
* eMedicine: radio/247
* v
* t
* e
Tumours of bone and cartilage
Diaphysis
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Osteochondrodysplasia
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Epiphysis
* Spondyloepiphyseal dysplasia congenita
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* FLNB
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Chondrodysplasia/
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Chondroma/enchondroma
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* Maffucci syndrome
Growth factor receptor
FGFR2:
* Antley–Bixler syndrome
FGFR3:
* Achondroplasia
* Hypochondroplasia
* Thanatophoric dysplasia
COL2A1 collagen disease
* Achondrogenesis
* type 2
* Hypochondrogenesis
SLC26A2 sulfation defect
* Achondrogenesis
* type 1B
* Autosomal recessive multiple epiphyseal dysplasia
* Atelosteogenesis, type II
* Diastrophic dysplasia
Chondrodysplasia punctata
* Rhizomelic chondrodysplasia punctata
* Conradi–Hünermann syndrome
Other dwarfism
* Fibrochondrogenesis
* Short rib – polydactyly syndrome
* Majewski's polydactyly syndrome
* Léri–Weill dyschondrosteosis
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*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
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*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
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*[LAPC]: locally advanced prostate cancer
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| Enchondromatosis | c0014084 | 7,249 | wikipedia | https://en.wikipedia.org/wiki/Enchondromatosis | 2021-01-18T18:30:00 | {"mesh": ["D004687"], "icd-9": ["756.4"], "icd-10": ["Q78.4"], "orphanet": ["296"], "wikidata": ["Q5375429"]} |
Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy.
Affected infants typically have severe brain dysfunction (encephalopathy), which can contribute to weak muscle tone (hypotonia), seizures, and delayed development of mental and movement abilities (psychomotor delay). These infants often have difficulty growing and gaining weight at the expected rate (failure to thrive). Most affected babies have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can be life-threatening. They may also have high levels of a molecule called glycine (hyperglycinemia) or elevated levels of sugar (hyperglycemia) in the blood. Some babies with multiple mitochondrial dysfunctions syndrome have high blood pressure in the blood vessels that connect to the lungs (pulmonary hypertension) or weakening of the heart muscle (cardiomyopathy).
## Frequency
Multiple mitochondrial dysfunctions syndrome is a rare condition; its prevalence is unknown. It is one of several conditions classified as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide.
## Causes
Multiple mitochondrial dysfunctions syndrome can be caused by mutations in the NFU1 or BOLA3 gene. The proteins produced from each of these genes appear to be involved in the formation of molecules called iron-sulfur (Fe-S) clusters or in the attachment of these clusters to other proteins. Certain proteins require attachment of Fe-S clusters to function properly.
The NFU-1 and BOLA3 proteins play an important role in mitochondria. In these structures, several proteins carry out a series of chemical steps to convert the energy in food into a form that cells can use. Many of the proteins involved in these steps require Fe-S clusters to function, including protein complexes called complex I, complex II, and complex III.
Fe-S clusters are also required for another mitochondrial protein to function; this protein is involved in the modification of additional proteins that aid in energy production in mitochondria, including the pyruvate dehydrogenase complex and the alpha-ketoglutarate dehydrogenase complex (also known as the oxoglutarate dehydrogenase complex). This modification is also critical to the function of the glycine cleavage system, a set of proteins that breaks down a protein building block (amino acid) called glycine when levels become too high.
Mutations in the NFU1 or BOLA3 gene reduce or eliminate production of the respective protein, which impairs Fe-S cluster formation. Consequently, proteins affected by the presence of Fe-S clusters, including those involved in energy production and glycine breakdown, cannot function normally. Reduced activity of complex I, II, or III, pyruvate dehydrogenase, or alpha-ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of multiple mitochondrial dysfunctions syndrome. In some affected individuals, impairment of the glycine cleavage system leads to a buildup of glycine.
### Learn more about the genes associated with Multiple mitochondrial dysfunctions syndrome
* BOLA3
* NFU1
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Multiple mitochondrial dysfunctions syndrome | c3276432 | 7,250 | medlineplus | https://medlineplus.gov/genetics/condition/multiple-mitochondrial-dysfunctions-syndrome/ | 2021-01-27T08:24:38 | {"gard": ["12632"], "omim": ["605711", "614299", "615330"], "synonyms": []} |
Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60.
The most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. These cancers can arise in the epithelial cells on the surface of the ovary. However, researchers suggest that many or even most ovarian cancers begin in epithelial cells on the fringes (fimbriae) at the end of one of the fallopian tubes, and the cancerous cells migrate to the ovary.
Cancer can also begin in epithelial cells that form the lining of the abdomen (the peritoneum). This form of cancer, called primary peritoneal cancer, resembles epithelial ovarian cancer in its origin, symptoms, progression, and treatment. Primary peritoneal cancer often spreads to the ovaries. It can also occur even if the ovaries have been removed. Because cancers that begin in the ovaries, fallopian tubes, and peritoneum are so similar and spread easily from one of these structures to the others, they are often difficult to distinguish. These cancers are so closely related that they are generally considered collectively by experts.
In about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells.
In its early stages, ovarian cancer usually does not cause noticeable symptoms. As the cancer progresses, signs and symptoms can include pain or a feeling of heaviness in the pelvis or lower abdomen, bloating, feeling full quickly when eating, back pain, vaginal bleeding between menstrual periods or after menopause, or changes in urinary or bowel habits. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a woman has ovarian cancer.
In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If ovarian cancer spreads, cancerous tumors most often appear in the abdominal cavity or on the surfaces of nearby organs such as the bladder or colon. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.
Some ovarian cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary ovarian cancers tend to develop earlier in life than non-inherited (sporadic) cases.
Because it is often diagnosed at a late stage, ovarian cancer can be difficult to treat; it leads to the deaths of about 14,000 women annually in the United States, more than any other gynecological cancer. However, when it is diagnosed and treated early, the 5-year survival rate is high.
## Frequency
Ovarian cancer is diagnosed in about 22,000 women in the United States each year. A woman's lifetime risk of developing ovarian cancer is about 1 in 75.
## Causes
Cancers occur when a buildup of mutations in critical genes—those that control cell growth and division or repair damaged DNA—allow cells to grow and divide uncontrollably to form a tumor. Most cases of ovarian cancer are sporadic; in these cases the associated genetic changes are acquired during a person's lifetime and are present only in certain cells in the ovary. These changes, which are called somatic mutations, are not inherited. Somatic mutations in the TP53 gene occur in almost half of all ovarian cancers. The protein produced from this gene is described as a tumor suppressor because it helps keep cells from growing and dividing too fast or in an uncontrolled way. Most of these mutations change single protein building blocks (amino acids) in the p53 protein, which reduces or eliminates the protein's tumor suppressor function. Because the altered protein is less able to regulate cell growth and division, a cancerous tumor may develop. Somatic mutations in many other genes have also been found in ovarian cancer cells.
In hereditary ovarian cancer, the associated genetic changes are passed down within a family. These changes, classified as germline mutations, are present in all the body's cells. In people with germline mutations, other inherited and somatic gene changes, together with environmental and lifestyle factors, also influence whether a woman will develop ovarian cancer.
Germline mutations are involved in more than one-fifth of ovarian cancer cases. Between 65 and 85 percent of these mutations are in the BRCA1 or BRCA2 gene. These gene mutations are described as "high penetrance" because they are associated with a high risk of developing ovarian cancer, breast cancer, and several other types of cancer in women. Compared to a 1.6 percent lifetime risk of developing ovarian cancer for women in the total population, the lifetime risk in women with a BRCA1 gene mutation is 40 to 60 percent, and the lifetime risk in women with a BRCA2 gene mutation is 20 to 35 percent. Men with mutations in these genes also have an increased risk of developing several forms of cancer. The proteins produced from the BRCA1 and BRCA2 genes are tumor suppressors that are involved in fixing damaged DNA, which helps to maintain the stability of a cell's genetic information. Mutations in these genes impair DNA repair, allowing potentially damaging mutations to persist in DNA. As these defects accumulate, they can trigger cells to grow and divide without control or order to form a tumor.
A significantly increased risk of ovarian cancer is also a feature of certain rare genetic syndromes, including a disorder called Lynch syndrome. Lynch syndrome is most often associated with mutations in the MLH1 or MSH2 gene and accounts for between 10 and 15 percent of hereditary ovarian cancers. Other rare genetic syndromes may also be associated with an increased risk of ovarian cancer. The proteins produced from the genes associated with these syndromes act as tumor suppressors. Mutations in any of these genes can allow cells to grow and divide unchecked, leading to the development of a cancerous tumor. Like BRCA1 and BRCA2, these genes are considered "high penetrance" because mutations greatly increase a person's chance of developing cancer. In addition to ovarian cancer, mutations in these genes increase the risk of several other types of cancer in both men and women.
Germline mutations in dozens of other genes have been studied as possible risk factors for ovarian cancer. These genes are described as "low penetrance" or "moderate penetrance" because changes in each of these genes appear to make only a small or moderate contribution to overall ovarian cancer risk. Some of these genes provide instructions for making proteins that interact with the proteins produced from the BRCA1 or BRCA2 genes. Others act through different pathways. Researchers suspect that the combined influence of variations in these genes may significantly impact a person's risk of developing ovarian cancer.
In many families, the genetic changes associated with hereditary ovarian cancer are unknown. Identifying additional genetic risk factors for ovarian cancer is an active area of medical research.
In addition to genetic changes, researchers have identified many personal and environmental factors that contribute to a woman's risk of developing ovarian cancer. These factors include age, ethnic background, and hormonal and reproductive factors. A history of ovarian cancer in closely related family members is also an important risk factor, particularly if the cancer occurred in early adulthood.
### Learn more about the genes associated with Ovarian cancer
* AKT1
* BRCA1
* BRCA2
* CDH1
* CTNNB1
* MLH1
* MSH2
* MSH6
* NBN
* PIK3CA
* PMS2
* PRKN
* STK11
* TP53
Additional Information from NCBI Gene:
* BARD1
* BRIP1
* CHEK2
* MRE11
* OPCML
* PALB2
* RAD50
* RAD51C
* RAD51D
## Inheritance Pattern
Most cases of ovarian cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations that are acquired during a person's lifetime, and they do not cluster in families.
A predisposition to cancer caused by a germline mutation is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. Although ovarian cancer occurs only in women, the mutated gene can be inherited from either the mother or the father. It is important to note that people inherit an increased likelihood of developing cancer, not the disease itself. Not all people who inherit mutations in these genes will ultimately develop cancer.
In many cases of ovarian cancer that clusters in families, the genetic basis for the disease and the mechanism of inheritance are unclear.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Ovarian cancer | c2676676 | 7,251 | medlineplus | https://medlineplus.gov/genetics/condition/ovarian-cancer/ | 2021-01-27T08:25:23 | {"gard": ["7295"], "omim": ["604370", "612555", "613399", "614291", "167000", "607893"], "synonyms": []} |
Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Parkinsonian-pyramidal syndrome | c1850100 | 7,252 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171695 | 2021-01-23T18:10:08 | {"gard": ["9175"], "mesh": ["C538104"], "omim": ["168100", "168601", "260300"], "umls": ["C1850100"], "icd-10": ["G20"], "synonyms": ["Pallidopyramidal syndrome"]} |
Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, “slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms.
There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Charcot-Marie-Tooth disease | c0007959 | 7,253 | gard | https://rarediseases.info.nih.gov/diseases/6034/charcot-marie-tooth-disease | 2021-01-18T18:01:32 | {"mesh": ["D002607"], "orphanet": ["166"], "synonyms": ["CMT", "Hereditary motor and sensory neuropathy", "HMSN", "Charcot Marie Tooth disease"]} |
Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Mandibular arteriovenous malformation | c3839452 | 7,254 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141174 | 2021-01-23T18:13:31 | {"icd-10": ["Q27.3"], "synonyms": ["Arteriovenous malformation of mandible"]} |
A number sign (#) is used with this entry because of evidence that visceral myopathy (VSCM) is caused by heterozygous mutation in the ACTG2 gene (102545) on chromosome 2p13.
Description
Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).
Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (277320).
Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (100100) and Barrett esophagus (Mungan syndrome; 611376). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see 609629).
Clinical Features
Weiss (1938) reported megaduodenum alone in 6 persons in 3 generations of a German family.
Tobenkin (1964) described megacystis with nonobstructive vesicoureteral reflux in a mother and her 3 daughters. The history of unilateral nephrectomy in the maternal grandmother suggested that 3 generations may have been affected. No comment on associated megaduodenum was made.
Newton (1968) treated 2 black males who had megaduodenum. One of them also had megacystis and the father probably had megaduodenum. Marfanoid habitus was noted, which raised a question of the mucosal neuroma syndrome (162300). However, microscopic studies showed normal ganglia and presumably no evidence of neuroma. An unusual feature was intermittent bilateral parotid swelling, a feature that Newton (1968) stated had been described in persons with intestinal atony due to Chagas disease (Vieira, 1961). In a discussion included with the paper by Newton (1968), Oberhelman referred to a family with multiple cases of megaduodenum. Familial occurrence was noted in 2 instances by Maldonado et al. (1970).
Berdon et al. (1976) first described what they called the 'megacystis-microcolon-intestinal hypoperistalsis syndrome' (MMIH) in 5 female infants, 2 of whom were sisters. All had marked dilation of the bladder and some had hydronephrosis and the external appearance of 'prune belly' (see 100100). The infants also had microcolon and dilated small intestines. Ganglion cells of the myenteric plexus have usually been normal. Other patients were described, in both sexes (e.g., Krook, 1980), but with a 4:1 female preponderance.
Schuffler and Pope (1977) studied the family of a 15-year-old girl with idiopathic intestinal pseudoobstruction. A 13-year-old brother, the mother, a maternal aunt and one of the aunt's children had mild dysphagia and esophageal motor dysfunction. The mother and the brother had flaccid bladder and bilateral ureteral reflux (193000), respectively. They suggested the designation 'hereditary hollow visceral myopathy.' Smooth muscle degeneration appears to be the basis of the abnormality.
Faulk et al. (1978) described a kindred with at least 18 affected members. Sixteen had symptoms of chronic obstruction of the gastrointestinal and/or urinary tract. Two patients with megaduodenum on contrast studies were asymptomatic. Four had megacolon. Four had megacystis. Specimens from duodenum, jejunum, ileum, colon or urinary bladder in 5 patients showed thinning and extensive collagen replacement of the longitudinal muscle layer. Ganglion cells were normal by light and electron microscopy. Esophageal manometry performed in 3 patients showed decreased gastroesophageal sphincter pressures and absence of contractions in the smooth muscle segment of the esophagus.
Among 27 cases of chronic intestinal pseudoobstruction, Schuffler et al. (1981) found 14 cases of progressive systemic sclerosis, 1 of sclerosing mesenteritis, 1 of jejunal diverticulosis, and 5 with no identifiable cause. Hollow visceral myopathy and visceral neuropathy were present in 4 and 2, respectively. The authors stated that these 2 forms are usually familial and that urologic involvement is sometimes present in the former.
Anuras et al. (1981) reviewed 10 reported families with chronic intestinal pseudoobstruction, 5 of which apparently represented visceral myopathy, with degeneration and fibrosis of the intestine and bladder. In 3, intestinal morphology was normal. Within families, a wide range of severity was observed, with as many as 20% of discovered cases being asymptomatic. In addition, study of families of apparently sporadic cases often uncovered additional affected individuals who had represented a diagnostic enigma to their physicians. By virtue of early diagnosis through such family study, unnecessary laparotomy for presumed mechanical bowel obstruction can be avoided.
Mitros et al. (1982) reported the pathologic findings of familial visceral myopathy in 14 members of 4 families.
Smout et al. (1985) reported a man who presented with achalasia at age 28 years and urinary retention at age 32, and was discovered to have marked dilatation of the entire small intestine at operation for ureteroileocutaneostomy at age 33. The eldest of the patient's 3 daughters had urinary retention and gastrointestinal symptoms. In small intestine specimens from the proband, both smooth muscle and neuronal abnormalities were found; the authors proposed that in this patient the primary defect might be in neuromuscular transmission.
Affected sibs with MMIH were reported by Patel and Carty (1980), Puri et al. (1983), and Oliveira et al. (1983). Winter and Knowles (1986) described affected sisters whose parents were first cousins. A complex heart malformation has been described in some cases (Patel and Carty, 1980; Winter and Knowles, 1986). Couper et al. (1991) discovered multiple cardiac rhabdomyomata in a child with MMIH, who died unexpectedly at 40 months of age.
Ducastelle et al. (1986) described an affected 17-year-old girl whose brother had abnormal esophageal and anorectal manometry and whose father had died of fatal small intestinal occlusion without mechanical obstruction.
Jones et al. (1992) described visceral myopathy in 5 individuals in 4 successive generations with 3 instances of male-to-male transmission. The affected individuals included a 29-year-old physiotherapist whose problems began at age 9 with frequent urinary tract infections, her 28-year-old brother, and her 60-year-old father. Her grandfather had found it necessary to self-administer enemas daily; the great-grandfather survived to age 91, however.
Penman and Lilford (1989) described 2 affected female offspring of a consanguineous Asiatic Indian couple. The first infant was delivered prematurely and died after 7 hours. The second case was diagnosed prenatally by the demonstration of hydronephrosis and distention of the bladder and stomach. Elective abortion was performed.
Anneren et al. (1991) reported what they considered to be the sixth pair of sibs with MMIH. Despite medical and surgical therapy, the patients died at ages 19 days and 2.5 months, respectively.
Guze et al. (1999) described 16 unrelated children, 11 boys and 5 girls, with chronic myopathic intestinal pseudoobstruction, which they designated 'infantile visceral myopathy;' the authors noted that most of their patients would have been diagnosed as having MMIH. In addition to gastrointestinal tract myopathy, all 16 children had bladder or urinary tract involvement, and megacystis was detected prenatally in 7. Four patients had died, 1 of them 7 months after a multiorgan transplant. Three patients had a positive family history, including 1 male who had megacystis at birth and developed constipation, abdominal distention and pain, frequent urination, and failure to thrive. In the second decade of life, he underwent surgery for malrotation, and at age 20 years, he was dependent on parenteral as well as oral nutrition; he also had an enlarged urinary bladder and stomach. Three maternal relatives over 3 generations had symptoms resembling pseudoobstruction, including 2 who died in infancy of 'stomach trouble' and malnutrition, and a maternal cousin who had had constipation, bloating, and problems with urination since childhood. Another patient exhibited vomiting and failure to thrive after birth, requiring parenteral nutrition; at 6 weeks of age, she became constipated, and at 7 months she had massive dilation of the stomach and duodenum, necessitating a return to parenteral nutrition. She also had hypotonic bladder, and antroduodenal manometry confirmed the diagnosis of infantile visceral myopathy at 5 years of age. She underwent bowel transplantation at age 8 years and was doing well almost 2 years later. Her mother suffered from chronic constipation, and family history also included a maternal half brother with enlarged urinary bladder by ultrasound, who died at 4 months of age from sudden infant death syndrome. The third patient presented at birth with vomiting, constipation, abdominal distention, pain, and failure to thrive. At 7 years of age, he had abdominal pain, slow gastric emptying, fecal impaction, flaccid urinary bladder, and he was small for his age. His father, who was diagnosed with visceral myopathy by muscle biopsy and antroduodenal manometry, reported a 5-generation family history of serious digestive problems. Guze et al. (1999) suggested that visceral myopathy represents an autosomal dominant disorder with variable expressivity and incomplete penetrance.
Sipponen et al. (2009) reported a Finnish family in which 7 members over 3 generations had visceral myopathy. Two family members had been previously described (Koskinen et al., 1989). All patients developed intermittent abdominal pain and distention in adolescence due to chronic intestinal pseudoobstruction, which primarily involved the small bowel but also affected the colon in some patients. In addition, 4 patients had endoscopic or histologic evidence of stomach involvement, 1 patient had slight esophageal dilation, and 1 had an inert uterus. None of the affected individuals had signs of megaduodenum, megacystis, or neurologic disease. One family member died at 59 years of age from complications of the disease, including malnutrition, severe electrolyte disturbance, and hypoalbuminemia; another died suddenly at home at 35 years of age, with cause of death reported as pneumonia. Histology of small bowel specimens from 3 patients showed degeneration and fibrosis of the muscularis propria of the intestinal smooth muscle. In addition, the inner circular layer of the muscularis propria contained alpha-smooth muscle actin (102545)-positive inclusion bodies; in more advanced disease, periodic acid-Schiff (PAS)-positive bodies were present as well. No abnormalities of the muscularis mucosae or blood vessels were observed.
Holla et al. (2014) described a 55-year-old Norwegian woman who in early adulthood developed increasing abdominal discomfort, bloating, and diarrhea. Exploratory laparotomy revealed marked dilation and reduced peristalsis of the small bowel but no obstruction; her symptoms continued, and she eventually required TPN due to worsening nutritional status. Her brother, father, and paternal grandfather and great-grandfather had similar symptoms. Histologic examination of full-thickness ileal biopsies from the proband and her affected brother showed haphazardly arranged smooth muscle in the lamina muscularis propria, with lack of separation between the circular and longitudinal layers. Immunohistology revealed a disorderly arrangement of intramyenteric neural tissue with sizable ganglion cell aggregates. In addition, there was swelling of smooth muscle cells with decreased expression of smooth muscle actin.
Thorson et al. (2014) studied 2 children with megacystis and intestinal pseudoobstruction. The first was a girl born with megacystis and hydronephrosis as well as malrotation and pseudoobstruction of the intestine. She was dependent on TPN and developed end-stage liver disease with portal hypertension. Full-thickness biopsy of the large intestine confirmed the presence of ganglion cells; biopsy of the jejunum showed a thin outer muscular layer. At 8 months of age, she underwent en bloc transplant of stomach, liver, pancreas, and small intestine; at age 12 years, she was doing well but required intermittent urinary catheterization. The second patient was a male infant who was diagnosed at 19 weeks' gestation with megacystis, bilateral hydroureters, and anhydramnios. Postnatal evaluation revealed intestinal malrotation, microcolon, and dilated proximal small intestine.
Diagnosis
### Prenatal Diagnosis
In patients with severe manifestations dating from before birth, prenatal diagnosis by ultrasound before 20 weeks should be possible (Vezina et al., 1979). Farrell (1988) described an affected sib pair with intrauterine death of 1 of the sibs. Young et al. (1989) made the diagnosis by ultrasonography in a pregnancy that was monitored due to the previous pregnancy resulting in a male infant who died at 4 hours of age as a consequence of multiple anomalies; these anomalies were believed to include urethral atresia and possibly intestinal atresia. Termination of pregnancy was performed at 18 weeks. Necropsy of the male fetus showed vacuolation and degeneration in smooth muscle of bowel and bladder wall.
Inheritance
Law and Ten Eyck (1962) reported the association of megaduodenum and megacystis in 9 members of a family of Italian extraction. Male-to-male transmission was observed.
Kelly (1977) studied a 4-generation family. Byrne et al. (1977) reported a 3-generation family with many instances of male-to-male transmission. Lewis et al. (1978) observed male-to-male transmission.
Schuffler et al. (1981) suggested autosomal recessive inheritance of a common environmental factor. Two families with dominant inheritance of visceral myopathy were included in their series.
In the review of Anuras et al. (1981) of 10 reported families, 4 families were consistent with dominant inheritance, 3 with X-linked dominant transmission, and 3 with recessive inheritance. Several instances of father-to-son transmission are on record.
Guze et al. (1999) studied 16 probands, 11 male and 5 female, with infantile visceral myopathy, from ethnically and geographically diverse families within the United States. There were no consanguineous matings and no similarly affected sibs, and only 3 probands had a family history suggestive of affected relatives. Guze et al. (1999) suspected that new dominant mutations were responsible for some cases, whereas in others a dominant gene with variable expressivity and incomplete penetrance might be responsible.
Cytogenetics
Chamyan et al. (2001) reported megacystis-microcolon-intestinal hypoperistalsis syndrome in a fetus with trisomy 18. No ganglion cells were present in the colon or bladder.
Molecular Genetics
In a 3-generation Finnish family with visceral myopathy, originally reported by Sipponen et al. (2009), Lehtonen et al. (2012) performed exome sequencing and identified a missense mutation in the ACTG2 gene (R148S; 102545.0001). The mutation, which segregated with disease, was not found in 280 Finnish controls.
In a 55-year-old Norwegian woman with chronic intestinal pseudoobstruction due to biopsy-proven visceral myopathy, Holla et al. (2014) performed next-generation sequencing and identified heterozygosity for the ACTG2 R148S mutation, which was not found in her unaffected mother.
In a 12-year-old girl and an unrelated male infant with megacystis and intestinal pseudoobstruction, Thorson et al. (2014) identified heterozygosity for de novo missense mutations in the ACTG2 gene, R178L (102545.0002) and R178C (102545.0003), respectively. Noting that the less severe phenotype of visceral myopathy is also caused by mutation in the ACTG2 gene, Thorson et al. (2014) suggested that MMIH and visceral myopathy represent the spectrum of a single disease, with intestinal hypoperistalsis as the common denominator.
Wangler et al. (2014) studied a cohort of 27 probands who had been diagnosed with MMIH and related phenotypes, including intestinal pseudoobstruction, hollow visceral myopathy, and 'prune belly' syndrome (see 100100). Whole-exome sequencing followed by targeted Sanger sequencing identified heterozygous missense variants in the ACTG2 gene in 15 unrelated patients (see, e.g., 102545.0003-102545.0009), of which 10 carried apparent de novo mutations. Noting the phenotypic variability of mutation-positive patients, Wangler et al. (2014) suggested that these clinical entities represent a spectrum of ACTG2-related disorders.
### Exclusion Studies
Because of observations in mice homozygous for disruption of the alpha-3/beta-4 neuronal nicotinic acetylcholine receptor genes (CHRNA3, 118503; CHRNB4, 118509), Lev-Lehman et al. (2001) screened for mutations in these genes, both of which map to human chromosome 15q24, in patients with MMIH. They found no loss-of-function mutations in either gene but found high frequency polymorphisms in both.
Animal Model
Xu et al. (1999, 1999) produced the MMIH phenotype in Chrna3/Chrnb4 knockout mice and postulated that the basic defect in the human disorder might reside in 1 of these genes.
INHERITANCE \- Autosomal dominant ABDOMEN External Features \- Absent abdominal wall musculature (rare) Pancreas \- Pancreatitis (rare) Gastrointestinal \- Decreased motility (in all patients) \- Recurrent abdominal pain \- Recurrent abdominal distention \- Recurrent pseudoobstruction \- Vomiting \- Constipation \- Diarrhea \- Malnutrition \- Esophageal motor dysfunction \- Dilated stomach \- Malrotation of intestines \- Dilated small intestine \- Dilated large intestine \- Megacolon (rare) \- Microcolon \- Thinning of outer muscular layer of small bowel \- Degeneration and fibrosis of muscularis propria of small bowel \- Disarray of smooth muscle cells in lamina muscularis propria \- Swelling of smooth muscle cells \- Lack of separation between circular and longitudinal layers of bowel wall \- Disarray of neural tissue in muscularis propria \- Ganglion cell aggregates \- Inner circular layer of small bowel muscularis propria contains alpha-smooth muscle actin-positive inclusion bodies \- Periodic acid-Schiff-positive bodies seen in more advanced disease GENITOURINARY Internal Genitalia (Male) \- Undescended testicle (rare) Internal Genitalia (Female) \- Inert uterus (rare) Kidneys \- Hydronephrosis Ureters \- Vesicoureteral reflux Bladder \- Urinary retention \- Megacystis PRENATAL MANIFESTATIONS Amniotic Fluid \- Polyhydramnios \- Anhydramnios MISCELLANEOUS \- De novo mutation (in some patients) \- Marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals \- Malnutrition can be severe, requiring total parenteral nutrition MOLECULAR BASIS \- Caused by mutation in the enteric smooth muscle actin gamma-2 gene (ACTG2, 102545.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| VISCERAL MYOPATHY | c1835084 | 7,255 | omim | https://www.omim.org/entry/155310 | 2019-09-22T16:38:29 | {"doid": ["0060610"], "mesh": ["C563597"], "omim": ["155310"], "orphanet": ["2604"], "synonyms": ["Alternative titles", "MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME", "INFANTILE VISCERAL MYOPATHY", "MEGADUODENUM AND/OR MEGACYSTIS", "BERDON SYNDROME", "PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL"], "genereviews": ["NBK299311", "NBK540960"]} |
A rare disorder of the anterior segment of the eye characterized by unilateral or bilateral, chronic and recurrent inflammation affecting the upper tarsal and bulbar conjunctiva, as well as the superior limbus, manifesting as a papillary reaction on the upper tarsal conjunctiva, thickening and folding of redundant superior bulbar conjunctiva, and superficial punctate epithelial keratitis with or without filament formation near the superior corneal limbus. Middle-aged women are most commonly affected and present with foreign body sensation, frequent blinking, burning sensation, and pruritus, among others.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Superior limbic keratoconjunctivitis | c0339229 | 7,256 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88633 | 2021-01-23T17:38:09 | {"gard": ["10940"], "umls": ["C0339229"], "icd-10": ["H16.2"], "synonyms": ["SLK", "Theodore superior limbic keratoconjunctivitis", "Theodore syndrome"]} |
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Find sources: "Carrion's disease" – news · newspapers · books · scholar · JSTOR (July 2020)
Carrion's disease
Other namesOroya fever
Carrion's disease chronic phase - verruga peruana (Peruvian warts)
SpecialtyInfectious disease
Carrion's disease is an infectious disease produced by Bartonella bacilliformis infection.
It is named after Daniel Alcides Carrión.[1]
## Contents
* 1 Signs and symptoms
* 1.1 Acute phase
* 1.2 Chronic phase
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
The clinical symptoms of bartonellosis are pleomorphic and some patients from endemic areas may be asymptomatic. The two classical clinical presentations are the acute phase and the chronic phase, corresponding to the two different host cell types invaded by the bacterium (red blood cells and endothelial cells). An individual can be affected by either or both phases.[2][3]
### Acute phase[edit]
It is also called the hematic phase.[2] The most common findings are fever (usually sustained, but with temperature no greater than 102 °F (39 °C)), pale appearance, malaise, painless liver enlargement, jaundice, enlarged lymph nodes, and enlarged spleen. This phase is characterized by severe hemolytic anemia and transient immunosuppression. The case fatality ratios of untreated patients exceeded 40% but reach around 90% when opportunistic infection with Salmonella spp. occurs. In a recent study, the attack rate was 13.8% (123 cases) and the case-fatality rate was 0.7%.[citation needed]
Other symptoms include a headache, muscle aches, and general abdominal pain.[4] Some studies have suggested a link between Carrion's disease and heart murmurs due to the disease's impact on the circulatory system. In children, symptoms of anorexia, nausea, and vomiting have been investigated as possible symptoms of the disease.[2]
Most of the mortality of Carrion's disease occurs during the acute phase. Studies vary in their estimates of mortality. In one study, mortality has been estimated as low as just 1% in studies of hospitalized patients, to as high as 88% in untreated, unhospitalized patients.[2] In developed countries, where the disease rarely occurs, it is recommended to seek the advice of a specialist in infectious disease when diagnosed.[5] Mortality is often thought to be due to subsequent infections due to the weakened immune symptoms and opportunistic pathogen invasion, or consequences of malnutrition due to weight loss in children.[2][6] In a study focusing on pediatric and gestational effects of the disease, mortality rates for pregnant women with the acute phase were estimated at 40% and rates of spontaneous abortion in another 40%.[2]
### Chronic phase[edit]
It is also called the eruptive phase or tissue phase, in which the patients develop a cutaneous rash produced by a proliferation of endothelial cells and is known as "Peruvian warts" or "verruga peruana". Depending on the size and characteristics of the lesions, there are three types: miliary (1–4 mm), nodular or subdermic, and mular (>5mm). Miliary lesions are the most common. The lesions often ulcerate and bleed.[4]
The most common findings are bleeding of verrugas, fever, malaise, arthralgias (joint pain), anorexia, myalgias, pallor, lymphadenopathy, and liver and spleen enlargement.
On microscopic examination, the chronic phase and its rash are produced by angioblastic hyperplasia, or the increased rates and volume of cell growth in the tissues that form blood vessels. This results in a loss of contact between cells and a loss of normal functioning.[2][7]
The chronic phase is the more common phase. Mortality during the chronic phase is very low.[2][4]
## Cause[edit]
Carrion's disease is caused by Bartonella bacilliformis.[4][7] Recent investigations show that Candidatus Bartonella ancashi may cause verruga peruana, although it may not meet all of Koch's postulates. There has been no experimental reproduction of the Peruvian wart in animals and there is little research on the disease's natural spread or impact in native animals.
## Diagnosis[edit]
thin blood film
Diagnosis during the acute phase can be made by obtaining a peripheral blood smear with Giemsa stain, Columbia blood agar cultures, immunoblot, indirect immunofluorescence, and PCR. Diagnosis during the chronic phase can be made using a Warthin-Starry stain of wart biopsy, PCR, and immunoblot.
## Treatment[edit]
Because Carrion's disease is often comorbid with Salmonella infections, chloramphenicol has historically been the treatment of choice.[5]
Fluoroquinolones (such as ciprofloxacin) or chloramphenicol in adults and chloramphenicol plus beta-lactams in children are the antibiotic regimens of choice during the acute phase of Carrion's disease.[5] Chloramphenicol-resistant B. bacilliformis has been observed.[2][5]
During the eruptive phase, in which chloramphenicol is not useful, azithromycin, erythromycin, and ciprofloxacin have been used successfully for treatment. Rifampin or macrolides are also used to treat both adults and children.[2][5]
Because of the high rates of comorbid infections and conditions, multiple treatments are often required. These have included the use of corticosteroids for respiratory distress, red blood cell transfusions for anemia, pericardiectomies for pericardial tamponades, and other standard treatments.[2][8]
## References[edit]
1. ^ synd/3112 at Who Named It?
2. ^ a b c d e f g h i j k Huarcaya, Erick; Maguiña, Ciro; Torres, Rita; Rupay, Joan; Fuentes, Luis (2004-10-01). "Bartonelosis (Carrion's Disease) in the pediatric population of Peru: an overview and update". Brazilian Journal of Infectious Diseases. 8 (5): 331–339. doi:10.1590/S1413-86702004000500001. ISSN 1413-8670. PMID 15798808.
3. ^ "Carrion's disease - RightDiagnosis.com". www.rightdiagnosis.com. Retrieved 2016-11-02.
4. ^ a b c d "Bartonella Infection (Cat Scratch Disease, Trench Fever, and Carrión's Disease)". www.cdc.gov. Retrieved 2016-10-17.
5. ^ a b c d e "Bartonellosis - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-10-17.
6. ^ Maguina C, Garcia PJ, Gotuzzo E, Cordero L, Spach DH (September 2001). "Bartonellosis (Carrión's disease) in the modern era". Clin. Infect. Dis. 33 (6): 772–779. doi:10.1086/322614. PMID 11512081.
7. ^ a b Maco V, Maguiña C, Tirado A, Maco V, Vidal JE (2004). "Carrion's disease (Bartonellosis bacilliformis) confirmed by histopathology in the High Forest of Peru". Rev. Inst. Med. Trop. Sao Paulo. 46 (3): 171–174. doi:10.1590/S0036-46652004000300010. PMID 15286824.
8. ^ Camacho, Cesar Henriquez (7 December 2002). "Human Bartonellosis Cause By Bartonella Bacilliformis". University of Pittsburgh. University of Pittsburgh. Retrieved 2 November 2016.
## External links[edit]
Classification
D
* ICD-10: A44.0 (ILDS A44.800)
* ICD-9-CM: 088
* MeSH: D001474
* DiseasesDB: 1249
* SNOMED CT: 240453002
* v
* t
* e
Proteobacteria-associated Gram-negative bacterial infections
α
Rickettsiales
Rickettsiaceae/
(Rickettsioses)
Typhus
* Rickettsia typhi
* Murine typhus
* Rickettsia prowazekii
* Epidemic typhus, Brill–Zinsser disease, Flying squirrel typhus
Spotted
fever
Tick-borne
* Rickettsia rickettsii
* Rocky Mountain spotted fever
* Rickettsia conorii
* Boutonneuse fever
* Rickettsia japonica
* Japanese spotted fever
* Rickettsia sibirica
* North Asian tick typhus
* Rickettsia australis
* Queensland tick typhus
* Rickettsia honei
* Flinders Island spotted fever
* Rickettsia africae
* African tick bite fever
* Rickettsia parkeri
* American tick bite fever
* Rickettsia aeschlimannii
* Rickettsia aeschlimannii infection
Mite-borne
* Rickettsia akari
* Rickettsialpox
* Orientia tsutsugamushi
* Scrub typhus
Flea-borne
* Rickettsia felis
* Flea-borne spotted fever
Anaplasmataceae
* Ehrlichiosis: Anaplasma phagocytophilum
* Human granulocytic anaplasmosis, Anaplasmosis
* Ehrlichia chaffeensis
* Human monocytotropic ehrlichiosis
* Ehrlichia ewingii
* Ehrlichiosis ewingii infection
Rhizobiales
Brucellaceae
* Brucella abortus
* Brucellosis
Bartonellaceae
* Bartonellosis: Bartonella henselae
* Cat-scratch disease
* Bartonella quintana
* Trench fever
* Either B. henselae or B. quintana
* Bacillary angiomatosis
* Bartonella bacilliformis
* Carrion's disease, Verruga peruana
β
Neisseriales
M+
* Neisseria meningitidis/meningococcus
* Meningococcal disease, Waterhouse–Friderichsen syndrome, Meningococcal septicaemia
M−
* Neisseria gonorrhoeae/gonococcus
* Gonorrhea
ungrouped:
* Eikenella corrodens/Kingella kingae
* HACEK
* Chromobacterium violaceum
* Chromobacteriosis infection
Burkholderiales
* Burkholderia pseudomallei
* Melioidosis
* Burkholderia mallei
* Glanders
* Burkholderia cepacia complex
* Bordetella pertussis/Bordetella parapertussis
* Pertussis
γ
Enterobacteriales
(OX−)
Lac+
* Klebsiella pneumoniae
* Rhinoscleroma, Pneumonia
* Klebsiella granulomatis
* Granuloma inguinale
* Klebsiella oxytoca
* Escherichia coli: Enterotoxigenic
* Enteroinvasive
* Enterohemorrhagic
* O157:H7
* O104:H4
* Hemolytic-uremic syndrome
* Enterobacter aerogenes/Enterobacter cloacae
Slow/weak
* Serratia marcescens
* Serratia infection
* Citrobacter koseri/Citrobacter freundii
Lac−
H2S+
* Salmonella enterica
* Typhoid fever, Paratyphoid fever, Salmonellosis
H2S−
* Shigella dysenteriae/sonnei/flexneri/boydii
* Shigellosis, Bacillary dysentery
* Proteus mirabilis/Proteus vulgaris
* Yersinia pestis
* Plague/Bubonic plague
* Yersinia enterocolitica
* Yersiniosis
* Yersinia pseudotuberculosis
* Far East scarlet-like fever
Pasteurellales
Haemophilus:
* H. influenzae
* Haemophilus meningitis
* Brazilian purpuric fever
* H. ducreyi
* Chancroid
* H. parainfluenzae
* HACEK
Pasteurella multocida
* Pasteurellosis
* Actinobacillus
* Actinobacillosis
Aggregatibacter actinomycetemcomitans
* HACEK
Legionellales
* Legionella pneumophila/Legionella longbeachae
* Legionnaires' disease
* Coxiella burnetii
* Q fever
Thiotrichales
* Francisella tularensis
* Tularemia
Vibrionaceae
* Vibrio cholerae
* Cholera
* Vibrio vulnificus
* Vibrio parahaemolyticus
* Vibrio alginolyticus
* Plesiomonas shigelloides
Pseudomonadales
* Pseudomonas aeruginosa
* Pseudomonas infection
* Moraxella catarrhalis
* Acinetobacter baumannii
Xanthomonadaceae
* Stenotrophomonas maltophilia
Cardiobacteriaceae
* Cardiobacterium hominis
* HACEK
Aeromonadales
* Aeromonas hydrophila/Aeromonas veronii
* Aeromonas infection
ε
Campylobacterales
* Campylobacter jejuni
* Campylobacteriosis, Guillain–Barré syndrome
* Helicobacter pylori
* Peptic ulcer, MALT lymphoma, Gastric cancer
* Helicobacter cinaedi
* Helicobacter cellulitis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Carrion's disease | c0029307 | 7,257 | wikipedia | https://en.wikipedia.org/wiki/Carrion%27s_disease | 2021-01-18T18:52:53 | {"mesh": ["D001474"], "umls": ["C0029307", "C0348974"], "icd-9": ["088"], "icd-10": ["A44.800", "A44.0"], "orphanet": ["64692"], "wikidata": ["Q1750104"]} |
A number sign (#) is used with this entry because hereditary fructose intolerance is caused by homozygous or compound heterozygous mutation in the gene encoding aldolase B (ALDOB; 612724) on chromosome 9q31.
Description
Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. Ali et al. (1998) provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance.
Clinical Features
Chambers and Pratt (1956) first reported fructose intolerance in a 24-year-old woman who complained of nausea, abdominal pain, and faintness after ingesting sugar and fructose. She did not enjoy sweet tastes. The authors termed the phenomenon 'idiosyncrasy to fructose,' and postulated that some of the symptoms resulted from hypoglycemia (Ali et al., 1998).
Perheentupa and Pitkanen (1962) reported a severely affected infant who had recurrent hypoglycemia and vomiting after weaning, when fructose or sucrose was added to the diet. The symptoms resulted in marked malnutrition. However, the patient's 3-year-old brother only developed hepatomegaly and hypoglycemic shock after an oral test dose of fructose. He was otherwise clinically healthy, but showed a marked aversion to sweets and fruit.
Froesch et al. (1963) described 2 adults, aged 33 and 39 years, with fructose intolerance. In addition to the aversion to fructose-containing foods, both had a remarkable absence of dental caries. Swales and Smith (1966) described an affected 21-year-old man, and Kohlin and Melin (1968) reported adult cases.
Mass et al. (1966) reported a patient with fructose intolerance who had developed renal tubular acidosis. It was unclear to the authors whether this was an independent disorder or a complication of the fructosemia. Perheentupa and Raivio (1967) discussed hyperuricemia in this disorder.
Mandel et al. (1990) reported an infant with fructose intolerance in whom the diagnosis was delayed due to the finding of hemophagocytosis in the bone marrow. The authors noted that most, if not all, patients with fructose intolerance have neonatal hypoglycemia, lactic acidosis, and an abnormal fructose or glycerol loading test. Hypoglycemic attacks occur later in life and are associated with severe hyperuricemia and metabolic acidosis. Therapeutic measures include restriction of fructose intake and avoidance of prolonged fasting, particularly during febrile episodes.
Ali et al. (1998) noted that infants with fructose intolerance can have a severe reaction, including lethargy, seizures, and coma, if large quantities of sugar are ingested. In addition, persistent intake can lead to chronic toxicity, including liver and kidney damage. Those who survive the early period without correct diagnosis develop a self-protective aversion to the harmful sugars.
Esposito et al. (2010) reported 2 unrelated patients with fructose intolerance who were determined to be heterozygous for a mutation in the ALDOB gene. One patient with an R46W substitution (612724.0014) had mild hypoglycemia and ketosis after ingestion of fructose and a marked aversion to sweets and fruit. The second patient with a Y343H substitution (612724.0015) was hospitalized for a series of febrile episodes associated with sever liver dysfunction at age 8 months. She died 1 month later from unknown causes. In vitro functional expression studies of both variants showed variably compromised enzyme activity. The report emphasized that heterozygous ALDOB mutations may result in symptoms in some patients.
### Clinical Variability
An adult form of fructose intolerance was reported by Lameire et al. (1978) in a Belgian patient. When a fructose solution was used for intravenous alimentation during management of viral meningitis, a 21-year-old man developed severe illness characterized by acute jaundice, gastrointestinal bleeding, hypoglycemia, proximal tubular acidosis, and disseminated intravascular coagulation. The renal disorder was characterized by glycosuria, amino aciduria, phosphaturia, and bicarbonaturia with high urinary pH despite metabolic acidosis. Liver fructose-1-phosphate aldolase activity was 30% of normal, and fructose-1,6-diphosphate aldolase activity was normal. In classic fructose intolerance, these values are 0 to 6% and 10 to 50% of normal, respectively. Thus, the patient appeared to have a mild form of the disorder, may have been heterozygous, and likely showed manifestations only because of the massive fructose infusion.
Biochemical Features
Richardson et al. (1979) reported the typical biochemical changes in an 18-year-old man with fructose intolerance after oral ingestion of fructose. He developed fructosemia, hypoglycemia, hypophosphatemia, hyperuricemia, and metabolic acidosis primarily due to lactic acidosis.
Jaeken et al. (1996) investigated the serum lysosomal enzymes beta-hexosaminidase (HEXA; 606869) and beta-glucuronidase (GUSB; 611499) in 2 patients with hereditary fructose intolerance and found abnormalities identical to those in carbohydrate-deficient glycoprotein syndrome type I (see CDGIb; 602579), but different from those in untreated galactosemia (230400). In studies in rat liver, they found that fructose-1-phosphate was a potent competitive inhibitor of phosphomannose isomerase, the first enzyme of the N-glycosylation pathway, thus explaining the N-glycosylation disturbances in hereditary fructose intolerance.
Inheritance
Hereditary fructose intolerance is an autosomal recessive disorder (Ali et al., 1998).
Wolf et al. (1959) reported cases of fructose intolerance in a father and son, but the mother was likely heterozygous.
Since aldolase B is normally present in kidney and intestinal mucosa as well as in liver, Cox et al. (1982) were able to detect heterozygotes by intestinal biopsy. In a Jewish family, they demonstrated that apparent dominant inheritance was the result of a homozygote-heterozygote mating.
Diagnosis
In aldolase B-deficient tissues, cytoplasmic accumulation of fructose-1-phosphate leads to sequestration of inorganic phosphate with resulting activation of AMP deaminase that catalyzes the irreversible deamination of AMP to IMP (inosine monophosphate), a precursor of uric acid. In the cytoplasm, AMP, ADP, and ATP are maintained in a state approaching equilibrium. Depletion of tissue ATP occurs through massive degradation to uric acid and impairment of regeneration by oxidative phosphorylation in the mitochondria because of inorganic phosphate depletion. In the cell, ATP exists largely as a 1:1 complex with magnesium. Depletion of ATP in tissues leads to depletion also of magnesium concentration. Oberhaensli et al. (1987) used (31)P magnetic resonance spectroscopy to study the effect of fructose on liver metabolism in patients with this disorder. In heterozygotes, the method could be used to diagnose fructose intolerance and to monitor patient compliance with a restricted diet. Ingestion of small amounts of fructose was followed by an increase in sugar phosphates and decrease in inorganic phosphate in the liver. In heterozygotes, fructose led to accumulation of sugar phosphates and depletion of inorganic phosphate in the liver. Fructose also induced a larger increase in plasma urate in heterozygotes than in control subjects. Heterozygosity for this disorder may predispose to hyperuricemia.
Edstrom (1990) emphasized hereditary fructose intolerance as the basis of vomiting in infants. Oral administration of a fructose solution resulted in a characteristic decrease in serum glucose and phosphorus within 1 hour.
Paolella et al. (1987) described a RFLP within the ALDOB gene useful in the study of hereditary fructose intolerance.
Clinical Management
Gitzelmann et al. (1974) demonstrated that antiserum against crystallized fructosediphosphate aldolase B from human liver activated the mutant enzyme in liver extracts from 3 patients with hereditary fructose intolerance, but not in 2 others. Both genetic heterogeneity and potential for therapy were suggested.
Mock et al. (1983) described 2 unrelated boys with hereditary fructose intolerance and growth retardation which occurred even though acute symptomatic fructose intoxication was prevented by restriction of dietary fructose. Stringent limitation of fructose intake resulted in accelerated growth. Experimental challenge with fructose caused sustained hyperuricemia and hyperuricosuria and increased plasma and urine levels of magnesium, without symptoms, hypoglycemia, or evidence of hepatic or renal dysfunction.
Marks et al. (1989) described the obstetrical management of a woman with fructose intolerance. Her first child had failure to thrive and died at 6 months; autopsy showed cirrhosis and pulmonary edema, with a clinical diagnosis of E. coli sepsis. Her second child also had fructose intolerance and died at age 5 years from acquired immunodeficiency syndrome contracted from a neonatal blood transfusion. On a strict fructose-free diet, her third pregnancy proceeded well; the child, who was also found to have fructose intolerance, did well on a fructose-free diet. Diagnosis of fructose intolerance was said to have been verified in the mother by biopsy of the liver. Presumably the father of these children was at least heterozygous for the fructose intolerance gene.
Molecular Genetics
In affected individuals from several unrelated families with fructose intolerance, Cross et al. (1988) identified homozygosity for a mutation in the ALDOB gene (A149P; 612724.0001). The findings indicated that this mutation may be a common cause of the disorder.
Cross and Cox (1990) identified deletions in the aldolase B gene in patients with fructose intolerance. Two were large deletions of 1.65 kb and 1.4 kb, respectively, whereas the third was a small 4-bp deletion (612724.0004).
Tolan (1995) reviewed 21 ALDOB mutations that had been reported to that time; 15 were single-base substitutions, resulting in 9 amino acid replacements, 4 nonsense codons, and 2 putative splicing defects, and the other 6 were deletions. Recurrent mutations were observed in exons 5 and 9.
Among 162 patients from 92 families with hereditary fructose intolerance, Davit-Spraul et al. (2008) identified 16 different mutations in the ALDOB gene, including 8 novel mutations. Most of the patients were French. The most common mutations were A149P (64%), A174D (612724.0002) (16%), and N335K (612724.0013) (5%). Screening for these 3 mutations alone confirmed the diagnosis in 69 (75%) of 92 probands. There were no apparent genotype/phenotype correlations.
In 6 unrelated Italian patients with hereditary fructose intolerance, Esposito et al. (2010) identified a 6.5-kb deletion in the ALDOB gene (612724.0013). The authors could not rule out the possibility of a founder effect.
Population Genetics
The incidence of hereditary fructose intolerance in the Caucasian population has been estimated at 1 in 20,000 births (Cross et al., 1990).
By haplotype analysis, Tolan (1995) demonstrated that the A149P (612724.0001) and A174D (612724.0002) ALDOB mutations originated from a single founder and had achieved a relatively high frequency through genetic drift.
In the United Kingdom, about 1.3% of neonates carry 1 copy of the A149P mutation (Ali et al., 1998).
Animal Model
Oppelt et al. (2015) found that the phenotype of Aldo2-null mice is a phenocopy of hereditary fructose intolerance. The null mice showed failure to thrive and liver dysfunction that was exacerbated by fructose ingestion. Livers of Aldo2-null mice exhibited rapid onset of hepatic steatosis that could be reversed by removal of fructose from the diet.
Nomenclature
By analogy to galactosemia (230400), Levin et al. (1963) suggested the term 'fructosemia' to refer to hereditary fructose intolerance.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Teeth \- Absent dental caries ABDOMEN Liver \- Hepatomegaly \- Hepatic steatosis \- Cirrhosis Gastrointestinal \- Aversion to sweets and fruit \- Vomiting \- Nausea \- Malnutrition \- Abdominal pain GENITOURINARY Kidneys \- Proximal renal tubulopathy SKIN, NAILS, & HAIR Skin \- Jaundice NEUROLOGIC Central Nervous System \- Lethargy \- Seizures \- Coma \- Mental retardation (if untreated) METABOLIC FEATURES \- Metabolic acidosis \- Lactic acidosis LABORATORY ABNORMALITIES \- Hypoglycemia \- Fructosemia \- Hyperuricemia \- Hypophosphatemia \- Abnormal liver function tests \- Fructose-1,6-bisphosphate aldolase B deficiency MISCELLANEOUS \- Onset in infancy after weaning \- Symptoms can be prevented by strict dietary restriction \- Persistent exposure to fructose leads to chronic liver and kidney complications \- Some patients with heterozygous mutations may be symptomatic MOLECULAR BASIS \- Caused by mutation in the aldolase B, fructose-bisphosphate gene (ALDOB, 612724.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| FRUCTOSE INTOLERANCE, HEREDITARY | c0016751 | 7,258 | omim | https://www.omim.org/entry/229600 | 2019-09-22T16:27:45 | {"doid": ["9869"], "mesh": ["D005633"], "omim": ["229600"], "icd-9": ["271.2"], "icd-10": ["E74.12"], "orphanet": ["469"], "synonyms": ["Alternative titles", "FRUCTOSEMIA", "FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY", "FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY", "ALDOLASE B DEFICIENCY", "ALDOB DEFICIENCY"], "genereviews": ["NBK333439"]} |
Campomelic dysplasia is a rare genetic disorder that affects the development of the skeleton, reproductive system, and face. Symptoms of campomelic dysplasia may include bowing of the legs, dislocated hips, small lungs and chest, and external genitalia that do not look clearly male or clearly female (ambiguous genitalia). In addition, infants with campomelic dysplasia have distinctive facial features including a small chin with cleft palate, prominent eyes, flat face, and a large head. Many infants die at an early age due to breathing problems. Campomelic dysplasia usually results from a new genetic change (DNA variant) in or the near the SOX9 gene. Diagnosis is based on physical findings and x-ray (radiograph) findings and may be confirmed by genetic testing. Treatment is aimed at preventing and/or managing the known symptoms and complications associated with this condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Campomelic dysplasia | c1861922 | 7,259 | gard | https://rarediseases.info.nih.gov/diseases/10027/campomelic-dysplasia | 2021-01-18T18:01:39 | {"mesh": ["D055036"], "omim": ["114290"], "orphanet": ["140"], "synonyms": ["CMPD", "CMPD1", "CMD1", "CMPD1/SRA1"]} |
HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive disease of the nervous system that affects less than 2% of people with HTLV-1 infection. Signs and symptoms vary but may include slowly progressive weakness and spasticity of one or both legs, exaggerated reflexes, muscle contractions in the ankle, and lower back pain. Other features may include urinary incontinence and minor sensory changes, especially burning or prickling sensations and loss of vibration sense. The reason some people with HTLV-1 infection develop HAM/TSTP is not well understood. Treatment generally aims to control the specific symptoms, as there is no standard treatment available. Interferon alpha may be beneficial over short periods, and some aspects of the disease may be improved with interferon beta. Other medications may include immune globulin, oral corticosteroids, and muscle relaxers such as baclofen or tizanidine.
*[v]: View this template
*[t]: Discuss this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| HTLV-1 associated myelopathy/tropical spastic paraparesis | c0030481 | 7,260 | gard | https://rarediseases.info.nih.gov/diseases/8208/htlv-1-associated-myelopathytropical-spastic-paraparesis | 2021-01-18T17:59:58 | {"mesh": ["D015493"], "umls": ["C0030481"], "synonyms": ["HAM/TSP", "Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis", "Tropical spastic paraparesis (formerly)"]} |
Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture.
## Epidemiology
Incidence is estimated at 1/15,000 births. Males are more frequently affected than females (sex ratio of 2:1) and the frequency of trigonocephalic twins is unexpectedly high.
## Clinical description
The premature closure of the metopic suture results in deformation of the anterior portion of the calvarium and a triangular-shaped forehead. In mild forms, only prominent ridging of the metopic suture is visible; while in more severe forms marked narrowing of the frontal and temporal regions affects the supraorbital rims leading to hypotelorism. The psychomotor development of patients is usually normal and the majority of cases are mild.
## Etiology
The underlying genetic cause of isolated trigonocephaly remains to be delineated. However, the concordance rate of isolated trigonocephaly in monozygotic twins is 43%, suggesting that both genetic and environmental factors are involved in the etiology of this disorder.
## Diagnostic methods
Diagnosis is based on clinical and ultrasound examination, radiological evaluation by X-rays, and 3D CT scans and/or MRI of the skull. Since fusion of the metopic suture normally occurs during early childhood, CT scans for metopic synostosis should be performed before 6 months of age to avoid misdiagnosis. Premature fusion of the metopic suture may occur both in syndromic and in nonsyndromic forms of synostosis.
## Differential diagnosis
The differential diagnosis should include trisomy 13 and other chromosomal disorders (distal monosomy 9p and 11q), as well as C syndrome (see these terms), and is based on the presence of multiple anomalies (including facial dysmorphism, organ anomalies and intellectual deficit) in the syndromic forms. Fetal exposure to valproic acid during pregnancy usually leads to trigonocephaly, which in this case is often associated with intellectual deficit and dysmorphic features, and therefore fetal valproate syndrome (see this term) should also be included in the differential diagnosis.
## Genetic counseling
Most cases are sporadic but familial forms with apparently autosomal dominant transmission have been reported (representing 7-8% of all cases).
## Management and treatment
Surgery is the only treatment for correction of the skull deformation. Primary orbitocranioplasty is performed according to different techniques including reshaping with metallic fixation or use of primary bone grafting and resorbable fixation to expand the frontal region. Anterolateral expansion of the supraorbital bar and stabilization of the construct via bone grafting and resorbable fixation give the best esthetic outcome with a low incidence of reoperation.
## Prognosis
The clinical outcome for patients having undergone surgery is usually satisfactory with a low requirement for additional interventions, especially in the mild forms. Recurrence of a prominent metopic ridge may occur in some rare cases.
*[v]: View this template
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*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Isolated trigonocephaly | c0265535 | 7,261 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3366 | 2021-01-23T17:40:13 | {"mesh": ["D003398"], "omim": ["190440", "614485"], "umls": ["C0265535"], "icd-10": ["Q75.0"], "synonyms": ["Non-syndromic metopic craniosynostosis"]} |
A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-32 (MRD32) is caused by heterozygous mutation in the KAT6A gene (601408) on chromosome 8p11.
Clinical Features
Arboleda et al. (2015) reported 4 unrelated children, ranging from 2 years, 11 months to 5 years of age, with a similar constellation of developmental abnormalities. Common features included microcephaly (-2.1 to -3.0 SD), poor overall growth, and delayed psychomotor development with intellectual disability and absent speech. Three patients were hypotonic and 2 were dystonic. Dysmorphic facial features were somewhat variable but included prominent nasal bridge or root, dental anomalies, strabismus, and epicanthal folds. One patient had a cleft palate and another had optic nerve atrophy. Two patients had an atrial septal defect, and a third had a ventricular septal defect. Two patients had chronic lung disease, 3 had gastrointestinal reflux and feeding difficulties, and 1 had intestinal malrotation.
Tham et al. (2015) reported 6 children 10 years of age or younger, including a set of monozygotic twins, from 5 unrelated families with intellectual disability and distinct syndromic features. All patients were delivered by emergency cesarean section and 4 had severe neonatal respiratory distress. All had neonatal hypotonia, some with stiff extremities, and delayed psychomotor development with lack of speech. Dysmorphic facial features were subtle and somewhat variable, including craniosynostosis, microcephaly, bitemporal narrowing, microretrognathia, strabismus, ptosis, broad nasal tip, low-set or posteriorly rotated ears, thin upper lip, and downturned corners of the mouth. Additional features included congenital heart defects, including septal defects and patent ductus arteriosus, and feeding difficulties. Brain imaging was essentially normal, except for nonspecific changes in 3 patients. Two patients had mild and controlled seizures and 2 had cortical visual impairment.
Millan et al. (2016) reported 6 unrelated individuals with a common phenotype consisting of a neurodevelopmental disorder with severe speech delay, hypotonia, and facial dysmorphism. Patient 1 was a 2-year-old female who presented in the neonatal period with an atrial septal defect and mild mitral prolapse requiring surgical correction. She was found to be microcephalic a few months after birth, and was nonambulatory and nonverbal at 27 months. Patient 2 was a 9-year-old male who had microcephaly and was nonverbal but communicated well through sign language. He also had mitral valve prolapse with regurgitation. Patient 3 was an 11-year-old girl with microcephaly who walked at 24 months and said her first words at age 6 years. Patient 4 was a 5-year-old girl who had a patent foramen ovale and patent ductus arteriosus. Her head size was normal. She had been nonverbal at age 3 years but by age 5 she had 3 words and approximately 50 signs. Patient 5 was a 6-year-old female who had developed stereotypical behaviors and had 3 words at age 3 years. She sat at 5 months and walked at 19 months. Patient 6 was a 29-year-old man with autism spectrum disorder and obsessive-compulsive behaviors and who was nonverbal. He developed complex partial seizures with secondary generalization at age 9 years. He had been seizure-free on antiepileptic medication for 2 years prior to the report. Brain MRI showed absence of an olfactory bulb. Facial dysmorphisms, present in all, were varied but frequently included broad or bulbous nose or nasal tip, downslanting palpebral fissures or ptosis, and abnormal ears. Most had a history of feeding difficulties including gastroesophageal reflux resulting in failure to thrive.
Molecular Genetics
In 4 unrelated children with MRD32, Arboleda et al. (2015) identified 2 different de novo heterozygous truncating mutations in the KAT6A gene (601408.0001 and 601408.0002). The mutations were found by exome sequencing and confirmed by Sanger sequencing. Three patients had been ascertained from a cohort of 298 individuals with developmental delay who underwent exome sequencing, thus representing about 1% (3 of 298) of patients. Studies of patient cells showed alterations in acetylation of histone 3 lysine-9 (H3K9) and H3K18 (see HIST1H3A, 602810), as well as changes in signaling downstream of p53 (TP53; 191170), suggesting disruption of multiple pathways involved in apoptosis, metabolism, and transcriptional regulation.
In 6 patients, including a set of monozygotic twins, from 5 unrelated families with MRD32, Tham et al. (2015) identified 5 different de novo heterozygous truncating mutations in the KAT6A gene (see, e.g., 601408.0003-601408.0005). All the mutations were predicted to result in truncation of the protein within the C-terminal acidic domain, leaving the HAT domain intact. No patient cells were available for studies, and functional studies of the variant were not performed.
Using trio whole-exome sequencing (WES) in 6 patients with a neurodevelopmental disorder with severe speech delay, hypotonia, and facial dysmorphism, Millan et al. (2016) identified 6 de novo mutations in the KAT6A gene. All but 1 were frameshift or nonsense mutations. One patient (patient 4) had an independent occurrence of the R1024X variant (601408.0002) previously described by Arboleda et al. (2015).
INHERITANCE \- Autosomal dominant GROWTH Other \- Poor overall growth HEAD & NECK Head \- Microcephaly \- Plagiocephaly Face \- Bitemporal narrowing \- Microretrognathia Ears \- Low-set ears \- Posteriorly rotated ears Eyes \- Strabismus \- Ptosis \- Epicanthal folds \- Cortical visual impairment Nose \- Prominent nasal root \- Prominent nasal bridge \- Broad nasal tip Mouth \- Thin upper lip \- Downturned corners of the mouth Teeth \- Dental anomalies CARDIOVASCULAR Heart \- Atrial septal defect \- Ventricular septal defect Vascular \- Patent ductus arteriosus RESPIRATORY \- Respiratory distress, neonatal ABDOMEN Gastrointestinal \- Feeding difficulties \- Gastrointestinal reflux SKELETAL Skull \- Craniosynostosis MUSCLE, SOFT TISSUES \- Hypotonia, neonatal NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Poor or absent speech \- Seizures (rare) MISCELLANEOUS \- All reported mutations have occurred de novo \- Facial dysmorphic features are variable MOLECULAR BASIS \- Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | c4225396 | 7,262 | omim | https://www.omim.org/entry/616268 | 2019-09-22T15:49:26 | {"doid": ["0070062"], "omim": ["616268"], "orphanet": ["457193"], "synonyms": []} |
Acrotomophilia (from the Greek ἀκρότομος "having the top cut off" (from ἄκρον akron "extremity" and -τομος -tomos from τέμνω temno "I cut") and φιλία philia "love") is a paraphilia in which an individual expresses strong sexual interest in amputees. It is a counterpart to apotemnophilia, the sexual interest in being an amputee.
## Contents
* 1 Overview
* 2 Interests and behaviours
* 3 Ethical issues
* 4 Terminology
* 5 See also
* 6 References
* 7 External links
## Overview[edit]
Acrotomophiles may be attracted to amputees because they like the way they look or they may view the amputee’s stump as a phallic object which can be used for sexual pleasure. Acrotomophiles may enjoy the idea of dominating the amputee during couples play and they may also become aroused with the thought of having to take care of an amputee.
## Interests and behaviours[edit]
In a survey of acrotomophiles, leg amputations were preferred over arm amputations, amputations of a single limb over double amputations, and amputations that left a stump over amputations that left no stump.[1] According to Solvang (2007), "Devotees adhere to standard conceptions of attractiveness in all other matters outside of amputations."[2]
## Ethical issues[edit]
Some people question whether amputating one's own body parts or operating on a partner for the sake of sexual pleasure is ethical. For some, modifying the body is a private ritual of self-ownership and freedom of choice. Psychiatrists may make a diagnosis of Body integrity identity disorder (B.I.I.D.).[3][4]
## Terminology[edit]
The term amelotatism has also been used to describe acrotomophilia. The sexual interest in being an amputee is apotemnophilia.[5][6] John Money (1977) used the terms autoapotemnophilia and alloapotemnophilia to describe the erotic interest of wanting to be or appear as an amputee versus wanting amputees as sexual partners;[7] neither term has been widely used since. The term teratophilia is used to describe arousal from deformed or monstrous people.[8]
## See also[edit]
* Attraction to disability
* Body dysmorphic disorder
* Boxing Helena, a feature film concerning amputee fetishism
* Disability pretenders
* Disability
* Genital modification and mutilation
* List of paraphilias
## References[edit]
1. ^ Dixon, D. (1983). An erotic attraction to amputees. Sexuality and Disability, 6, 3–19.
2. ^ Solvang, P. (2007). The amputee body desired: Beauty destabilized? Disability re-valued? Sexuality and Disability, 25, 51–64.
3. ^ Robin Marantz Henig. (March 22, 2005) At War With Their Bodies, They Seek to Sever Limbs. The New York Times. Retrieved: 2008.02.08.
4. ^ fleshbot.com (March 22, 2005) Devotees, Pretenders and Wannabes. Archived February 23, 2007, at the Wayback Machine
5. ^ John Money, Kent W. Simcoe. 1984. Sexuality and Disability Journal. "Acrotomophilia, sex and disability: New concepts and case report". Springer Netherlands. ISSN 0146-1044 (Print) 1573-6717 (Online).
6. ^ Janice M. Irvine. (2005). Disorders of Desire: Sexuality And Gender In Modern American Sexology. ISBN 1-59213-151-4. (p. 4).
7. ^ Money, J., Jobaris, R., & Furth, G. (1977). Apotemnophilia: Two cases of self demand amputation as a sexual preference. The Journal of Sex Research, 13, 115–124.
8. ^ Aggrawal, Anil (2008). Forensic and Medico-Legal Aspects of Sexual Crimes and Unusual Sexual Practices. CRC Press. ISBN 978-1-4200-4308-2.
## External links[edit]
Look up acrotomophilia in Wiktionary, the free dictionary.
* v
* t
* e
Paraphilias
List
* Abasiophilia
* Acrotomophilia
* Agalmatophilia
* Algolagnia
* Apotemnophilia
* Autassassinophilia
* Biastophilia
* Capnolagnia
* Chremastistophilia
* Chronophilia
* Coprophagia
* Coprophilia
* Crurophilia
* Crush fetish
* Dacryphilia
* Dendrophilia
* Emetophilia
* Eproctophilia
* Erotic asphyxiation
* Erotic hypnosis
* Erotophonophilia
* Exhibitionism
* Formicophilia
* Frotteurism
* Gerontophilia
* Homeovestism
* Hybristophilia
* Infantophilia
* Kleptolagnia
* Klismaphilia
* Lactaphilia
* Macrophilia
* Masochism
* Mechanophilia
* Microphilia
* Narratophilia
* Nasophilia
* Necrophilia
* Object sexuality
* Odaxelagnia
* Olfactophilia
* Omorashi
* Paraphilic infantilism
* Partialism
* Pedophilia
* Podophilia
* Plushophilia
* Pyrophilia
* Sadism
* Salirophilia
* Scopophilia
* Somnophilia
* Sthenolagnia
* Tamakeri
* Telephone scatologia
* Transvestic fetishism
* Trichophilia
* Troilism
* Urolagnia
* Urophagia
* Vorarephilia
* Voyeurism
* Zoophilia
* Zoosadism
See also
* Other specified paraphilic disorder
* Erotic target location error
* Courtship disorder
* Polymorphous perversity
* Sexual fetishism
* Human sexual activity
* Perversion
* Sexology
* Book
* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Acrotomophilia | None | 7,263 | wikipedia | https://en.wikipedia.org/wiki/Acrotomophilia | 2021-01-18T18:39:17 | {"wikidata": ["Q461925"]} |
For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970.
Mapping
Warburg et al. (1991) described a 20-year-old man with mental retardation and electrophysiologically demonstrated cone-rod dystrophy since childhood. He had hypogonadism and a central postsynaptic hearing impairment. Particularly noteworthy was the finding of deletion of the 18q21.1-qter segment. Three patients with more distal deletions on chromosome 18 did not present retinal dystrophies. This led Warburg et al. (1991) to suggest that a locus for cone-rod dystrophy may be located in the segment 18q21.1-q21.3.
Eyes \- Cone-rod retinal dystrophy Neuro \- Mental retardation Inheritance \- Autosomal dominant (18q21.1-qter) \- heterogeneous, also a form at 19q13.1-13.2 Misc \- Childhood onset GU \- Hypogonadism Lab \- Cone-rod dystrophy by electrophysiology \- Deletion of 18q21.1-qter Ears \- Central postsynaptic hearing impairment ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| CONE-ROD DYSTROPHY 1 | c3489532 | 7,264 | omim | https://www.omim.org/entry/600624 | 2019-09-22T16:16:02 | {"doid": ["0111009"], "mesh": ["D000071700"], "omim": ["120970", "600624"], "orphanet": ["1872"], "synonyms": ["Alternative titles", "CRD1"]} |
Fourth disease
Other namesFilatov-Dukes' disease
SpecialtyInfectious disease
See also: Scarlet fever
Dukes' disease, named after Clement Dukes,[1] also known as fourth disease[2] or Filatov-Dukes' disease (after Nil Filatov),[3] is an exanthem. It is distinguished from measles or forms of rubella, though it was considered as a form of viral rash.[2] Although Dukes identified it as a separate entity, it is thought not to be different from scarlet fever caused by exotoxin-producing Streptococcus pyogenes after Keith Powell proposed equating it with the condition currently known as staphylococcal scalded skin syndrome in 1979.[2][4]
It was never associated with a specific pathogen,[5] and the terminology is no longer in use.[2] However, a mysterious rash of unknown cause in school children often gives rise to the question of whether it could be Dukes' disease.[6]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 References
* 4 External links
## Signs and symptoms[edit]
Signs and symptoms may include fever, nausea, vomiting, and diarrhea, along with typical viral symptoms of sensitivity to light, enlarged lymph nodes, sore throat, and possibly brain inflammation. The rash may appear at any time during the illness. It is usually generalised. The rash consists of erythematous maculopapules with areas of confluence. They may be urticarial, vesicular, or sometimes petechial. The palms and soles may be involved. The eruptions are more common in children than in adults. Usually, the rash fades without pigmentation or scaling.[citation needed]
## Diagnosis[edit]
This section is empty. You can help by adding to it. (December 2018)
## References[edit]
1. ^ Dukes, C (30 June 1900). "On the confusion of two different diseases under the name of rubella (rose-rash)". The Lancet. 156 (4011): 89–95. doi:10.1016/S0140-6736(00)65681-7.
2. ^ a b c d Weisse, ME (31 December 2000). "The fourth disease, 1900-2000". The Lancet. 357 (9252): 299–301. doi:10.1016/S0140-6736(00)03623-0. PMID 11214144. S2CID 35896288.
3. ^ Dukes-Filatov disease at Who Named It?
4. ^ Powell, KR (January 1979). "Filatow-Dukes' disease. Epidermolytic toxin-producing staphylococci as the etiologic agent of the fourth childhood exanthem". Am. J. Dis. Child. 133 (1): 88–91. doi:10.1001/archpedi.1979.02130010094020. PMID 367152.
5. ^ Morens, DM; Katz, AR (September 1991). "The "fourth disease" of childhood: reevaluation of a nonexistent disease". Am. J. Epidemiol. 134 (6): 628–40. doi:10.1093/oxfordjournals.aje.a116135. PMID 1951267.
6. ^ "Dukes' return? On the trail of the mysterious rash in school children". Healio, Infectious Diseases in Children. April 2002. Retrieved 19 August 2013.
## External links[edit]
Classification
D
* ICD-10: B09
* ICD-9-CM: 057.8
* v
* t
* e
Skin infections, symptoms and signs related to viruses
DNA virus
Herpesviridae
Alpha
HSV
* Herpes simplex
* Herpetic whitlow
* Herpes gladiatorum
* Herpes simplex keratitis
* Herpetic sycosis
* Neonatal herpes simplex
* Herpes genitalis
* Herpes labialis
* Eczema herpeticum
* Herpetiform esophagitis
Herpes B virus
* B virus infection
VZV
* Chickenpox
* Herpes zoster
* Herpes zoster oticus
* Ophthalmic zoster
* Disseminated herpes zoster
* Zoster-associated pain
* Modified varicella-like syndrome
Beta
* Human herpesvirus 6/Roseolovirus
* Exanthema subitum
* Roseola vaccinia
* Cytomegalic inclusion disease
Gamma
* KSHV
* Kaposi's sarcoma
Poxviridae
Ortho
* Variola
* Smallpox
* Alastrim
* MoxV
* Monkeypox
* CPXV
* Cowpox
* VV
* Vaccinia
* Generalized vaccinia
* Eczema vaccinatum
* Progressive vaccinia
* Buffalopox
Para
* Farmyard pox: Milker's nodule
* Bovine papular stomatitis
* Pseudocowpox
* Orf
* Sealpox
Other
* Yatapoxvirus: Tanapox
* Yaba monkey tumor virus
* MCV
* Molluscum contagiosum
Papillomaviridae
HPV
* Wart/plantar wart
* Heck's disease
* Genital wart
* giant
* Laryngeal papillomatosis
* Butcher's wart
* Bowenoid papulosis
* Epidermodysplasia verruciformis
* Verruca plana
* Pigmented wart
* Verrucae palmares et plantares
* BPV
* Equine sarcoid
Parvoviridae
* Parvovirus B19
* Erythema infectiosum
* Reticulocytopenia
* Papular purpuric gloves and socks syndrome
Polyomaviridae
* Merkel cell polyomavirus
* Merkel cell carcinoma
RNA virus
Paramyxoviridae
* MeV
* Measles
Togaviridae
* Rubella virus
* Rubella
* Congenital rubella syndrome ("German measles" )
* Alphavirus infection
* Chikungunya fever
Picornaviridae
* CAV
* Hand, foot, and mouth disease
* Herpangina
* FMDV
* Foot-and-mouth disease
* Boston exanthem disease
Ungrouped
* Asymmetric periflexural exanthem of childhood
* Post-vaccination follicular eruption
* Lipschütz ulcer
* Eruptive pseudoangiomatosis
* Viral-associated trichodysplasia
* Gianotti–Crosti syndrome
* v
* t
* e
Numbered Diseases of Childhood
Diseases
* First Disease (Measles)
* Second Disease (Scarlet Fever)
* Third Disease (Rubella)
* Fourth Disease (Dukes' Disease)
* Fifth Disease (Erythema Infectiosum)
* Sixth Disease (Roseola)
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Dukes' disease | None | 7,265 | wikipedia | https://en.wikipedia.org/wiki/Dukes%27_disease | 2021-01-18T18:55:35 | {"icd-9": ["057.8"], "icd-10": ["B09"], "wikidata": ["Q3281270"]} |
Systemic-onset juvenile idiopathic arthritis
Other namesSystemic juvenile idiopathic arthritis
SpecialtyPediatrics/rheumatology
Systemic-onset juvenile idiopathic arthritis (or the juvenile onset form of Still's disease[1]) is a type of juvenile idiopathic arthritis (JIA) with extra-articular manifestations like fever and rash apart from arthritis. It was originally called systemic-onset juvenile rheumatoid arthritis or Still's disease.
Predominantly extra-articular manifestations like high fevers, rheumatic rash, enlargement of the liver and spleen, enlargement of the lymph nodes, and anemia. Others manifestations include inflammation of the pleura, inflammation of the pericardium, inflammation of the heart's muscular tissue, and inflammation of the peritoneum are also seen.[citation needed]It is sometimes called "juvenile-onset Still's disease", to distinguish it from adult-onset Still's disease. However, there is some evidence that the two conditions are closely related.[2]
## Contents
* 1 Presentation
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 History
* 7 References
* 8 External links
## Presentation[edit]
Systemic JIA is characterized by arthritis, fever, which typically is higher than the low-grade fever associated with polyarticular and a salmon pink rash. It accounts for 10-20% of JIA and affects males and females equally, unlike the other two subtypes of JIA, and affects adolescents. It generally involves both large and small joints. Systemic JIA can be challenging to diagnose because the fever and rash come and go. Fever can occur at the same time every day or twice a day (often in late afternoon or evening) with a spontaneous rapid return to baseline (vs. septic arthritis of continuous fever). The rash often occurs with fever. It is a discrete, salmon-pink macules of different sizes. It migrates to different locations on skin, rarely persisting in one location more than one hour. The rash is commonly seen on trunk and proximal extremities or over pressure areas.[citation needed]
Arthritis is often absent in the first weeks or even 6–8 months into the illness.Systemic JIA may have internal organ involvement such as hepatosplenomegaly, lymphadenopathy, serositis, hepatitis, or tenosynovitis.[citation needed]
A polymorphism in macrophage migration inhibitory factor has been associated with this condition.[3]
## Cause[edit]
The cause is unknown but it's thought to be related to environmental, genetic, and hormonal factors.[citation needed]
## Diagnosis[edit]
Rheumatoid factor and ANA tests are generally negative in systemic JIA. Lab findings: anemia of chronic disease (can also appear in non-systemic types[4]), neutrophilia, thrombocytosis, elevated acute phase reactants (ESR, CRP, ferritin).[citation needed]
## Treatment[edit]
Treatment with either glucocorticoids, methotrexate, anakinra, or tocilizumab has been examined.[5] Anakinra has been shown to resolve the clinical features of the disease in 87% of patients.[6] It also induces remission in half of corticosteroid-resistant patients.[7] The results of another study were similar, with half of the patients responding to treatment with Anakinra.[8] Canakinumab, an antibody to interleukin-1 beta, is indicated for treatment in patients who respond poorly to other treatments.[9]
## Prognosis[edit]
25% of cases progress to severe destructive arthritis.[10] In the United States, mortality is estimated at about 4% [11] and in Europe, mortality is estimated at 21.7%.[12]
## History[edit]
Still's disease is named after English physician Sir George Frederic Still (1861–1941).[13][14] It was characterized by EG Bywaters in 1971.[15][16]
## References[edit]
1. ^ "Still's Disease". MedicineNet. Retrieved 8 June 2017.
2. ^ Luthi F, Zufferey P, Hofer MF, So AK (2002). ""Adolescent-onset Still's disease": characteristics and outcome in comparison with adult-onset Still's disease". Clin. Exp. Rheumatol. 20 (3): 427–30. PMID 12102485.
3. ^ De Benedetti F, Meazza C, Vivarelli M, et al. (May 2003). "Functional and prognostic relevance of the -173 polymorphism of the macrophage migration inhibitory factor gene in systemic-onset juvenile idiopathic arthritis". Arthritis Rheum. 48 (5): 1398–407. doi:10.1002/art.10882. PMID 12746913.
4. ^ https://www.tm.mahidol.ac.th/seameo/2017-48-suppl-2/2017-48-supp2-141.pdf
5. ^ DeWitt, Esi Morgan; Kimura, Yukiko; Beukelman, Timothy; Nigrovic, Peter A.; Onel, Karen; Prahalad, Sampath; Schneider, Rayfel; Stoll, Matthew L.; Angeles-Han, Sheila; Milojevic, Diana; Schikler, Kenneth N.; Vehe, Richard K.; Weiss, Jennifer E.; Weiss, Pamela; Ilowite, Norman T.; Wallace, Carol A. (1 January 2012). "Consensus treatment plans for new-onset systemic juvenile idiopathic arthritis". Arthritis Care & Research. 64 (7): 1001–10. doi:10.1002/acr.21625. PMC 3368104. PMID 22290637.
6. ^ Vastert, Sebastiaan J; De Jager, Wilco; Noordman, Bo; Prakken, Berent J; Wulffraat, Nico M (1 January 2012). "IL-1 receptor antagonist restores IL-18 NK cell axis in systemic JIA". Journal of Translational Medicine. 10 (Suppl 3): P45. doi:10.1186/1479-5876-10-S3-P45. PMC 3508836.
7. ^ Wulffraat, NM; de Jager, W; Prakken, B; Kuis, W (1 January 2008). "Early effects of Anakinra in corticosteroid naïve SOJIA patients". Pediatric Rheumatology. 6 (Suppl 1): P29. doi:10.1186/1546-0096-6-S1-P29. PMC 3334087.
8. ^ Gattorno, Marco; Piccini, Alessandra; Lasigliè, Denise; Tassi, Sara; Brisca, Giacomo; Carta, Sonia; Delfino, Laura; Ferlito, Francesca; Pelagatti, Maria Antonietta; Caroli, Francesco; Buoncompagni, Antonella; Viola, Stefania; Loy, Anna; Sironi, Marina; Vecchi, Annunciata; Ravelli, Angelo; Martini, Alberto; Rubartelli, Anna (1 May 2008). "The pattern of response to anti–interleukin-1 treatment distinguishes two subsets of patients with systemic-onset juvenile idiopathic arthritis". Arthritis & Rheumatism. 58 (5): 1505–1515. doi:10.1002/art.23437. PMID 18438814.
9. ^ http://www.ema.europa.eu/docs/en_GB/document_library/EPAR_-_Product_Information/human/001109/WC500031680.pdf
10. ^ Singh-Grewal, D.; Schneider, R.; Bayer, N.; Feldman, B. M. (1 May 2006). "Predictors of disease course and remission in systemic juvenile idiopathic arthritis: Significance of early clinical and laboratory features". Arthritis & Rheumatism. 54 (5): 1595–1601. doi:10.1002/art.21774. PMID 16645998.
11. ^ Hoffman, F. "Background Information". Roche Group Media Relations. http://www.roche.com/med-ra-sjia.pdf.pdf
12. ^ Davies, Rebecca; Southwood, T.; Kearsley-Fleet, L.; Lunt, M.; Hyrich, K. (2015). "Standardized Mortality Rates are Increased in Patients with Severe Juvenile Idiopathic Arthritis". Oxford Journal of Rheumatology. 54 (1): i153.
13. ^ synd/1773 at Who Named It?
14. ^ G. F. Still. A special form of joint disease met with in children. Doctoral dissertation, Cambridge, 1896.
15. ^ Bywaters EG (March 1971). "Still's disease in the adult". Ann. Rheum. Dis. 30 (2): 121–33. doi:10.1136/ard.30.2.121. PMC 1005739. PMID 5315135.
16. ^ Cimaz, R; Von, Scheven; Hofer, M (9 May 2012). "Systemic-onset juvenile idiopathic arthritis: the changing life of a rare disease" (PDF). Swiss Medical Weekly. 142: w13582. doi:10.4414/smw.2012.13582. PMID 22573189.
## External links[edit]
Classification
D
* ICD-10: M08.2
* ICD-9-CM: 714.30
* OMIM: 604302
* DiseasesDB: 12430
External resources
* Orphanet: 85414
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Systemic-onset juvenile idiopathic arthritis | c0087031 | 7,266 | wikipedia | https://en.wikipedia.org/wiki/Systemic-onset_juvenile_idiopathic_arthritis | 2021-01-18T19:09:05 | {"gard": ["10966"], "mesh": ["D001171"], "umls": ["C0087031", "C1384600"], "icd-10": ["M08.2"], "orphanet": ["85414"], "wikidata": ["Q17148432"]} |
Chronic actinic dermatitis (CAD) is an immunologically mediated photodermatosis usually observed in temperate climates and that typically develops in middle-aged to elderly males. CAD is characterized by eczematous and often lichenified pruritic patches and confluent plaques located predominantly on sun-exposed areas with notable sparing of eyelids, skin folds, and postauricular skin. It is often accompanied by multiple contact allergies and usually occurs in a background of either atopic, contact allergic, or seborrheic dermatitis, although it can occur de novo. Resolution of photosensitivity is reported in up to 50% of individuals after 15 years or more, with contact allergies persisting.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Chronic actinic dermatitis | c1510437 | 7,267 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=330064 | 2021-01-23T18:43:02 | {"mesh": ["D010787"], "umls": ["C0282309", "C1510437"], "icd-10": ["L57.8"], "synonyms": ["Actinic reticuloid", "Chronic photosensitivity dermatitis"]} |
Bulging of the eye anteriorly out of the orbit
"Proptosis" redirects here. For the condition of drooping of the eyelid, see Ptosis (eyelid).
This article is about proptosis. For the weevils, see Exophthalmus.
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
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Exophthalmos
Patient with left eye proptosis
SpecialtyOphthalmology
Exophthalmos (also called exophthalmus, exophthalmia, proptosis, or exorbitism) is a bulging of the eye anteriorly out of the orbit. Exophthalmos can be either bilateral (as is often seen in Graves' disease) or unilateral (as is often seen in an orbital tumor). Complete or partial dislocation from the orbit is also possible from trauma or swelling of surrounding tissue resulting from trauma.
In the case of Graves' disease, the displacement of the eye is due to abnormal connective tissue deposition in the orbit and extraocular muscles which can be visualized by CT or MRI.[1]
If left untreated, exophthalmos can cause the eyelids to fail to close during sleep leading to corneal dryness and damage. Another possible complication is a form of redness or irritation called "Superior limbic keratoconjunctivitis", where the area above the cornea becomes inflamed as a result of increased friction when blinking. The process that is causing the displacement of the eye may also compress the optic nerve or ophthalmic artery, leading to blindness.
## Contents
* 1 Causes
* 2 Anatomy
* 3 Diagnosis
* 3.1 Measurement
* 4 Animals
* 5 See also
* 6 References
* 7 External links
## Causes[edit]
Inflammatory/Infection:
* Graves' ophthalmopathy due to Graves' disease, usually causes bilateral proptosis.
* Orbital cellulitis – often with unilateral proptosis, severe redness, and moderate to severe pain, sinusitis and an elevated white blood cell count.[2]
* Dacryoadenitis
* Erdheim–Chester disease
* Mucormycosis
* Orbital pseudotumor – presents with acute, usually unilateral proptosis with severe pain.[2]
* High-altitude cerebral edema
* Granulomatosis with polyangiitis
Neoplastic:
* Leukemias
* Meningioma, (of sphenoid wing)
* Nasopharyngeal angiofibroma
* Hand–Schüller–Christian disease
* Hemangioma, cavernous
Cystic:
* Dermoid cyst
Vascular:
* Carotid-cavernous fistula
* Aortic insufficiency: manifests as a pulsatile pseudoproptosis, described by British cardiothoracic surgeon Hutan Ashrafian in 2006
Others:
* Orbital fracture: apex, floor, medial wall, zygomatic
* Retrobulbar hemorrhage: trauma to the orbit can lead to bleeding behind the eye. The hemorrhage has nowhere to escape and the increased pressure pushes the eye out of the socket, leading to proptosis and can also cause blindness if not treated promptly.
* Cushing's syndrome (due to fat in the orbital cave)
* Pfeiffer syndrome
## Anatomy[edit]
See also: Anatomical terms of location
Proptosis is the anterior displacement of the eye from the orbit. Since the orbit is closed off posteriorly, medially and laterally, any enlargement of structures located within will cause the anterior displacement of the eye.[3] Swelling or enlargement of the lacrimal gland causes inferior medial and anterior dislocation of the eye. This is because the lacrimal glands are located superiorly and laterally in the orbit.[3]
## Diagnosis[edit]
### Measurement[edit]
Measurement of the degree of exophthalmos is performed using an exophthalmometer.
Most sources define exophthalmos/proptosis as a protrusion of the globe greater than 18 mm.[1]
The term exophthalmos is often used when describing proptosis associated with Graves' disease.[4]
## Animals[edit]
Exophthalmos in a Pug
Exophthalmos is commonly found in dogs. It is seen in brachycephalic (short-nosed) dog breeds because of the shallow orbit. It can lead to keratitis secondary to exposure of the cornea. Exophthalmos is commonly seen in the pug, Boston terrier, Pekingese, and shih tzu. It is a common result of head trauma and pressure exerted on the front of the neck too hard in dogs. In cats, eye proptosis is uncommon and is often accompanied by facial fractures.[5]
About 40% of proptosed eyes retain vision after being replaced in the orbit, but in cats very few retain vision.[6] Replacement of the eye requires general anesthesia. The eyelids are pulled outward, and the eye is gently pushed back into place. The eyelids are sewn together in a procedure known as tarsorrhaphy for about five days to keep the eye in place.[7] Replaced eyes have a higher rate of keratoconjunctivitis sicca and keratitis and often require lifelong treatment. If the damage is severe, the eye is removed in a relatively simple surgery known as enucleation of the eye.
The prognosis for a replaced eye is determined by the extent of damage to the cornea and sclera, the presence or absence of a pupillary light reflex, and the presence of ruptured rectus muscles. The rectus muscles normally help hold the eye in place and direct eye movement. Rupture of more than two rectus muscles usually requires the eye to be removed, because significant blood vessel and nerve damage also usually occurs.[7] Compared to brachycephalic breeds, dochilocephalic (long-nosed) breeds usually have more trauma to the eye and its surrounding structures, so the prognosis is worse.[8]
## See also[edit]
* Boston's sign
* Carotid-cavernous fistula
* Enophthalmos
* Von Graefe's sign
## References[edit]
1. ^ a b Owen Epstein; David Perkin; John Cookson; David P de Bono (April 2003). Clinical examination (3rd ed.). St. Louis: Mosby. ISBN 0-7234-3229-5.
2. ^ a b Goldman, Lee (2012). Goldman's Cecil Medicine (24th ed.). Philadelphia: Elsevier Saunders. pp. 2430. ISBN 1437727883.
3. ^ a b Mitchell, Richard N. "Eye". Pocket companion to Robbins and Cotran pathologic basis of disease (8th ed.). Philadelphia, PA: Elsevier Saunders. ISBN 978-1416054542.
4. ^ Mercandetti, Michael. "Exophthalmos". WebMD, LLC. Medscape. Retrieved 6 December 2012.
5. ^ "Prolapse of the Eye". The Merck Veterinary Manual. 2006. Retrieved 2007-03-23.
6. ^ Gelatt, Kirk (2002). "Treatment of Orbital Diseases in Small Animals". Proceedings of the 27th World Congress of the World Small Animal Veterinary Association. Retrieved 2007-03-23.
7. ^ a b Gelatt, Kirk N. (ed.) (1999). Veterinary Ophthalmology (3rd ed.). Lippincott, Williams & Wilkins. ISBN 0-683-30076-8.CS1 maint: extra text: authors list (link)
8. ^ Bjerk, Ellen (2004). "Ocular Injuries in General Practice". Proceedings of the 29th World Congress of the World Small Animal Veterinary Association. Retrieved 2007-03-23.
## External links[edit]
Classification
D
* ICD-10: H05.2
* ICD-9-CM: 376.2-376.3
* MeSH: D005094
* DiseasesDB: 18612
External resources
* MedlinePlus: 003033
* eMedicine: oph/616
* Patient UK: Exophthalmos
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma
* Ankyloblepharon
Eyelash
* Trichiasis
* Madarosis
Lacrimal apparatus
* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia
Orbit
* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis
Conjunctiva
* Conjunctivitis
* allergic
* Pterygium
* Pseudopterygium
* Pinguecula
* Subconjunctival hemorrhage
Globe
Fibrous tunic
Sclera
* Scleritis
* Episcleritis
Cornea
* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
* Photokeratitis
* Corneal ulcer
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal opacity
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy
Vascular tunic
* Iris
* Ciliary body
* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
* Synechia
Choroid
* Choroideremia
* Choroiditis
* Chorioretinitis
Lens
* Cataract
* Congenital cataract
* Childhood cataract
* Aphakia
* Ectopia lentis
Retina
* Retinitis
* Chorioretinitis
* Cytomegalovirus retinitis
* Retinal detachment
* Retinoschisis
* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Sickle cell
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy
Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy
Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen
Optic neuropathy
* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional
Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Exophthalmos | c0015300 | 7,268 | wikipedia | https://en.wikipedia.org/wiki/Exophthalmos | 2021-01-18T19:05:08 | {"mesh": ["D005094"], "umls": ["C1837760", "C1848490", "C1862425", "C0015300"], "wikidata": ["Q684383"]} |
## Clinical Features
Gilmartin et al. (1977) reported an inbred Mennonite kindred in which 5 sibships had children who succumbed to a neonatal radiculoneuropathy. One parent of each of the 5 sibships was a member of 1 sibship (i.e., the 5 sibships were related as first cousins). In addition, the other parents in 2 of the sibships were sibs and the other parents in the final 3 sibships were sibs. Death of affected infants occurred at an early age. The clinical picture was that of the 'floppy infant' and superficially suggested Werdnig-Hoffmann disease (253300). However, polyhydramnios (due to fetal swallowing deficiency), distal muscle weakness, areflexia, diaphragmatic involvement, opisthotonic posturing, autonomic instability, and chronic diarrhea were features not usually found in infantile spinal muscular atrophy.
Misc \- Polyhydramnios (due to fetal swallowing deficiency) \- Early lethal Muscle \- Distal muscle weakness \- Weak diaphragm Neuro \- Radiculoneuropathy \- Neonatal hypotonia \- Areflexia \- Opisthotonic posturing \- Autonomic instability GI \- Chronic diarrhea Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| RADICULONEUROPATHY, FATAL NEONATAL | c1849471 | 7,269 | omim | https://www.omim.org/entry/266250 | 2019-09-22T16:22:57 | {"mesh": ["C564857"], "omim": ["266250"]} |
Elephantiasis
A woman with enlarged legs due to Elephantiasis tropica
SpecialtyInfectious disease, general surgery
SymptomsSwelling of the skin
Elephantiasis is the enlargement and hardening of limbs or body parts due to tissue swelling.[1][2] It is characterised by edema, hypertrophy, and fibrosis of skin and subcutaneous tissues, due to obstruction of lymphatic vessels.[2] It may affect the genitalia.[2] The term elephantiasis is often used in reference to (symptoms caused by) parasitic worm infections,[1][2] but may refer to a variety of diseases where parts of a person's body swell to massive proportions.[2]
## Contents
* 1 Cause
* 2 References
* 3 External links
## Cause[edit]
Some conditions that present with elephantiasis include:
* Elephantiasis nostras, due to longstanding chronic lymphangitis[citation needed]
* Elephantiasis tropica (known as lymphatic filariasis), caused by a number of parasitic worms, particularly Wuchereria bancrofti. More than 120 million people, mostly in Africa and Southeast Asia, are affected.[3]
* Nonfilarial elephantiasis (or podoconiosis), an immune disease affecting the lymph vessels[citation needed]
* Leishmaniasis[2]
* Elephantiasis, Grade 3 lymphedema which may occur in people with breast cancer[4]
* Genital elephantiasis, end result of lymphogranuloma venereum[citation needed]
* Proteus syndrome, a genetic disorder best known as the condition possibly suffered by Joseph Merrick, the so-called "Elephant Man."[citation needed]
Other causes may include:
* Repeated streptococcal infection[2]
* Lymphadenectomy[2]
* Hereditary birth defects[2]
* Pretibial myxedema
## References[edit]
1. ^ a b "Definition of ELEPHANTIASIS". www.merriam-webster.com. Retrieved 2018-06-28.
2. ^ a b c d e f g h i "elephantiasis", The Free Dictionary, retrieved 2018-06-28
3. ^ Carlson, Emily (27 March 2013). "Taking the 'Bite' Out of Vector-Borne Diseases - Inside Life Science Series - National Institute of General Medical Sciences". publications.nigms.nih.gov. Retrieved 29 November 2016.
4. ^ "Lymphedema". National Cancer Institute. 29 May 2015. Retrieved 29 November 2016.
## External links[edit]
Classification
D
* ICD-10: I89.0
* MeSH: D004604
* "Lymphatic filariasis". World Health Organization. Retrieved 1 June 2018.
Index of articles associated with the same name
This article includes a list of related items that share the same name (or similar names).
If an internal link incorrectly led you here, you may wish to change the link to point directly to the intended article.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Elephantiasis | c0013882 | 7,270 | wikipedia | https://en.wikipedia.org/wiki/Elephantiasis | 2021-01-18T19:06:25 | {"mesh": ["D004604"], "umls": ["C0013882"], "wikidata": ["Q16775468"]} |
Spinocerebellar ataxia 28 (SCA28)is a slowly progressive movement disorder that typically begins in early adulthood (but can affect children and older adults as well). Early signs and symptoms include problems with coordination and balance when walking (gait ataxia), speech and swallowing difficulties (dysarthria), over-reactive reflex reactions in knees and ankles (hyperreflexia), weakness in the muscles that control eye movement (ophthalmoparesis), uncontrolled movement of the eye (nystagmus) and drooping eyelid (ptosis). The symptoms worsen very slowly over time. SCA28 is caused by changes in the AFG3L2 gene and is inherited in an autosomal dominant fashion. There is currently not a cure for SCA28, but treatments are available to help manage symptoms.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Spinocerebellar ataxia 28 | c1853249 | 7,271 | gard | https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28 | 2021-01-18T17:57:36 | {"mesh": ["C537205"], "omim": ["610246"], "umls": ["C1853249"], "orphanet": ["101109"], "synonyms": ["SCA28", "Spinocerebellar ataxia type 28"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Hyperprolactinaemia" – news · newspapers · books · scholar · JSTOR (May 2017)
Hyperprolactinaemia
Other namesHyperprolactinemia
Prolactin
SpecialtyEndocrinology
Hyperprolactinaemia is the presence of abnormally high levels of prolactin in the blood. Normal levels are less than 500 mIU/L (milli-international units per litre)[23.5 ng/mL or μg/L] for women, and less than 450 mI U/L [21.5 ng/mL or μg/L] for men[medical citation needed].
Prolactin is a peptide hormone produced by the anterior pituitary gland that is primarily associated with lactation and plays a vital role in breast development during pregnancy. Hyperprolactinaemia may cause galactorrhea (production and spontaneous flow of breast milk), infertility, and disruptions in the normal menstrual period in women; and hypogonadism, infertility and erectile dysfunction in men.
Hyperprolactinaemia can also be a part of normal body changes during pregnancy and breastfeeding. It can also be caused by diseases affecting the hypothalamus and pituitary gland. It can also be caused by disruption of the normal regulation of prolactin levels by drugs, medicinal herbs and heavy metals inside the body. Hyperprolactinaemia may also be the result of disease of other organs such as the liver, kidneys, ovaries and thyroid.[1]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 2.1 Physiological causes
* 2.2 Medications
* 2.3 Specific diseases
* 3 Diagnosis
* 4 Treatment
* 5 Historical names
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
In women, a high blood level of prolactin often causes hypoestrogenism with anovulatory infertility and a decrease in menstruation. In some women, menstruation may disappear altogether (amenorrhoea). In others, menstruation may become irregular or menstrual flow may change. Women who are not pregnant or nursing may begin producing breast milk (galactorrhoea). Some women may experience a loss of libido (interest in sex) and breast pain, especially when prolactin levels begin to rise for the first time, as the hormone promotes tissue changes in the breast. Intercourse may become difficult or painful because of vaginal dryness.[medical citation needed]
In men, the most common symptoms of hyperprolactinaemia are decreased libido, sexual dysfunction (in both men and women), erectile dysfunction, infertility, and gynecomastia. Because men have no reliable indicator such as menstruation to signal a problem, many men with hyperprolactinaemia being caused by a pituitary adenoma may delay going to the doctor until they have headaches or eye problems caused by the enlarged pituitary pressing against the adjacent optic chiasm. They may not recognize a gradual loss of sexual function or libido. Only after treatment do some men realize they had a problem with sexual function.[medical citation needed]
Because of hypoestrogenism and hypoandrogenism, hyperprolactinaemia can lead to osteoporosis.[medical citation needed]
## Causes[edit]
Hyperprolactinaemia may be caused by either disinhibition (e.g., compression of the pituitary stalk or reduced dopamine levels) or excess production from a prolactinoma (a type of pituitary adenoma). A blood serum prolactin level of 1000–5000 mIU/L could be from either mechanism, but >5000 mIU/L (>200 μg/L) is likely due to the activity of an adenoma; macroadenomas (large tumours over 10 mm diameter) have levels of prolactin up to 100,000 mIU/L.
Hyperprolactinemia inhibits the secretion of gonadotropin-releasing hormone (GnRH) from the hypothalamus, which in turn inhibits the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) from the pituitary gland and results in diminished gonadal sex hormone production (termed hypogonadism).[2] This is the cause of many of the symptoms described below.
In many people, elevated prolactin levels remain unexplained and may represent a form of hypothalamic–pituitary–adrenal axis dysregulation.
Causes of hyperprolactinemia[3]
Physiologic hypersecretion
* Pregnancy
* Lactation
* Chest wall stimulation
* Sleep
* Stress
Hypothalamic-pituitary stalk damage
* Tumors
* Craniopharyngioma
* Suprasellar pituitary mass
* Meningioma
* Dysgerminoma
* Metastases
* Empty sella
* Lymphocytic hypophysitis
* Adenoma with stalk compression
* Granulomas
* Rathke's cyst
* Irradiation
* Trauma
* Pituitary stalk section
* Suprasellar surgery
Pituitary hypersecretion
* Prolactinoma
* Acromegaly
* Laron syndrome
Systemic disorders
* Chronic kidney failure
* Hypothyroidism
* Cirrhosis
* Pseudocyesis
* Epileptic seizures
Drug-induced hypersecretion
* Dopamine receptor blockers
* Atypical antipsychotics: risperidone
* Phenothiazines: chlorpromazine, perphenazine
* Butyrophenones: haloperidol
* Thioxanthenes
* Metoclopramide
* Dopamine synthesis inhibitors
* α-Methyldopa
* Catecholamine depletors
* Reserpine
* Opiates
* H2 antagonists
* Cimetidine, ranitidine
* Tricyclic antidepressants
* Amitriptyline, amoxapine
* Selective serotonin reuptake inhibitors
* Fluoxetine
* Calcium channel blockers
* Verapamil
* Hormones
* Estrogens
* TRH
### Physiological causes[edit]
Physiological (i.e., non-pathological) causes include: pregnancy, breastfeeding, and mental stress.
### Medications[edit]
Prolactin secretion in the pituitary is normally suppressed by the brain chemical dopamine. Drugs that block the effects of dopamine at the pituitary or deplete dopamine stores in the brain may cause the pituitary to secrete prolactin. These drugs include the typical antipsychotics: phenothiazines such as chlorpromazine (Thorazine), and butyrophenones such as haloperidol (Haldol); atypical antipsychotics such as risperidone (Risperdal) and paliperidone (Invega);[4][5] gastroprokinetic drugs used to treat gastro-oesophageal reflux and medication-induced nausea (such as that from chemotherapy): metoclopramide (Reglan) and domperidone; less often, alpha-methyldopa and reserpine, used to control hypertension; and also estrogens and TRH.[4][6] The sleep drug ramelteon (Rozerem) also increases the risk of hyperprolactinaemia. A benzodiazepine analog, etizolam, can also increase the risk of hyperprolactinaemia.[medical citation needed] In particular, the dopamine antagonists metoclopramide and domperidone are both powerful prolactin stimulators and have been used to stimulate breast milk secretion for decades. However, since prolactin is antagonized by dopamine and the body depends on the two being in balance, the risk of prolactin stimulation is generally present with all drugs that deplete dopamine, either directly or as a rebound effect.
### Specific diseases[edit]
Prolactinoma or other tumours arising in or near the pituitary — such as those that cause acromegaly may block the flow of dopamine from the brain to the prolactin-secreting cells, likewise, division of the pituitary stalk or hypothalamic disease. Other causes include chronic kidney failure, hypothyroidism, bronchogenic carcinoma and sarcoidosis. Some women with polycystic ovary syndrome may have mildly-elevated prolactin levels.
Nonpuerperal mastitis may induce transient hyperprolactinemia (neurogenic hyperprolactinemia) of about three weeks' duration; conversely, hyperprolactinemia may contribute to nonpuerperal mastitis.[7]
Apart from diagnosing hyperprolactinaemia and hypopituitarism, prolactin levels are often checked by physicians in patients that have suffered a seizure, when there is doubt as to whether they have had an epileptic seizure or a non-epileptic seizure. Shortly after epileptic seizures, prolactin levels often rise, whereas they are normal in non-epileptic seizures.
## Diagnosis[edit]
A doctor will test for prolactin blood levels in women with unexplained milk secretion (galactorrhea) or irregular menses or infertility, and in men with impaired sexual function and milk secretion. If prolactin is high, a doctor will test thyroid function and ask first about other conditions and medications known to raise prolactin secretion. While a plain X-ray of the bones surrounding the pituitary may reveal the presence of a large macro-adenoma, the small micro-adenoma will not be apparent. Magnetic resonance imaging (MRI) is the most sensitive test for detecting pituitary tumours and determining their size. MRI scans may be repeated periodically to assess tumour progression and the effects of therapy. Computed Tomography (CT scan) also gives an image of the pituitary, but it is less sensitive than the MRI.
In addition to assessing the size of the pituitary tumour, doctors also look for damage to surrounding tissues, and perform tests to assess whether production of other pituitary hormones is normal. Depending on the size of the tumour, the doctor may request an eye exam with measurement of visual fields.
The hormone prolactin is downregulated by dopamine and is upregulated by oestrogen. A falsely-high measurement may occur due to the presence of the biologically-inactive macroprolactin in the serum. This can show up as high prolactin in some types of tests, but is asymptomatic.
## Treatment[edit]
Treatment is usually medication with dopamine agonists such as cabergoline,[8] bromocriptine (often preferred when pregnancy is possible),[9][10] and less frequently lisuride. A new drug in use is norprolac[11] with the active ingredient quinagolide. Terguride is also used.
Vitex agnus-castus extract can be tried in cases of mild hyperprolactinaemia.[12]
## Historical names[edit]
The following eponyms were established before prolactin levels could be measured reliably in the clinical setting. On occasion, they are still encountered:
1. Ahumada-DelCastillo syndrome, which refers to the association of galactorrhoea and amenorrhoea. It is also sometimes called Amenorrhoea-Galactorrhoea syndrome.[13]
2. Chiari–Frommel syndrome, which refers to extended postpartum galactorrhoea and amenorrhoea.[14]
3. Forbes–Albright syndrome, which refers to galactorrhoea-amenorrhoea associated with a pituitary tumour.[15]
## See also[edit]
* Hypothalamic–pituitary–prolactin axis
* Hypopituitarism
## References[edit]
1. ^ Mancini T, Casanueva FF, Giustina A (March 2008). "Hyperprolactinemia and prolactinomas". Endocrinology and Metabolism Clinics of North America. 37 (1): 67–99, viii. doi:10.1016/j.ecl.2007.10.013. PMID 18226731.
2. ^ Sabanegh ES (20 October 2010). Male Infertility: Problems and Solutions. Springer Science & Business Media. pp. 83–. ISBN 978-1-60761-193-6.
3. ^ Longo et al., Harrison's Principles of Internal Medicine, 18th ed., p.2887
4. ^ a b Torre DL, Falorni A (October 2007). "Pharmacological causes of hyperprolactinemia". Therapeutics and Clinical Risk Management. 3 (5): 929–51. PMC 2376090. PMID 18473017.
5. ^ Kantrowitz J, Citrome L (July 2008). "Paliperidone: the evidence of its therapeutic value in schizophrenia". Core Evidence. 2 (4): 261–71. PMC 3012441. PMID 21221191.
6. ^ Baumgartner A, Gräf KJ, Kürten I (July 1988). "Prolactin in patients with major depressive disorder and in healthy subjects. II. Longitudinal study of basal prolactin and post-TRH-stimulated prolactin levels". Biological Psychiatry. 24 (3): 268–85. doi:10.1016/0006-3223(88)90196-5. PMID 3135848. S2CID 40784598.
7. ^ Peters F, Schuth W (March 1989). "Hyperprolactinemia and nonpuerperal mastitis (duct ectasia)". JAMA. 261 (11): 1618–20. doi:10.1001/jama.1989.03420110094030. PMID 2918655.
8. ^ Verhelst J, Abs R, Maiter D, van den Bruel A, Vandeweghe M, Velkeniers B, Mockel J, Lamberigts G, Petrossians P, Coremans P, Mahler C, Stevenaert A, Verlooy J, Raftopoulos C, Beckers A (July 1999). "Cabergoline in the treatment of hyperprolactinemia: a study in 455 patients". The Journal of Clinical Endocrinology and Metabolism. 84 (7): 2518–22. doi:10.1210/jcem.84.7.5810. PMID 10404830.
9. ^ Webster J, Piscitelli G, Polli A, Ferrari CI, Ismail I, Scanlon MF (October 1994). "A comparison of cabergoline and bromocriptine in the treatment of hyperprolactinemic amenorrhea. Cabergoline Comparative Study Group". The New England Journal of Medicine. 331 (14): 904–9. doi:10.1056/NEJM199410063311403. PMID 7915824.
10. ^ Colao A, Di Sarno A, Guerra E, De Leo M, Mentone A, Lombardi G (April 2006). "Drug insight: Cabergoline and bromocriptine in the treatment of hyperprolactinemia in men and women". Nature Clinical Practice Endocrinology & Metabolism. 2 (4): 200–10. doi:10.1038/ncpendmet0160. PMID 16932285. S2CID 21104519.
11. ^ Di Sarno A, Landi ML, Marzullo P, Di Somma C, Pivonello R, Cerbone G, Lombardi G, Colao A (July 2000). "The effect of quinagolide and cabergoline, two selective dopamine receptor type 2 agonists, in the treatment of prolactinomas". Clinical Endocrinology. 53 (1): 53–60. doi:10.1046/j.1365-2265.2000.01016.x. PMID 10931080. S2CID 31677949.
12. ^ Kilicdag EB, Tarim E, Bagis T, Erkanli S, Aslan E, Ozsahin K, Kuscu E (June 2004). "Fructus agni casti and bromocriptine for treatment of hyperprolactinemia and mastalgia". International Journal of Gynaecology and Obstetrics. 85 (3): 292–3. doi:10.1016/j.ijgo.2004.01.001. PMID 15145274.
13. ^ Ahumada-del Castillo syndrome at Who Named It?
14. ^ Chiari-Frommel syndrome at Who Named It?
15. ^ Forbes-Albright syndrome at Who Named It?
## External links[edit]
Classification
D
* ICD-10: E22.1
* ICD-9-CM: 253.1
* MeSH: D006966
* DiseasesDB: 6314
External resources
* eMedicine: med/1098
* v
* t
* e
Pituitary disease
Hyperpituitarism
Anterior
* Acromegaly
* Hyperprolactinaemia
* Pituitary ACTH hypersecretion
Posterior
* SIADH
General
* Nelson's syndrome
* Hypophysitis
Hypopituitarism
Anterior
* Kallmann syndrome
* Growth hormone deficiency
* Hypoprolactinemia
* ACTH deficiency/Secondary adrenal insufficiency
* GnRH insensitivity
* FSH insensitivity
* LH/hCG insensitivity
Posterior
Neurogenic diabetes insipidus
General
* Empty sella syndrome
* Pituitary apoplexy
* Sheehan's syndrome
* Lymphocytic hypophysitis
* Pituitary adenoma
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Hyperprolactinaemia | c0020514 | 7,272 | wikipedia | https://en.wikipedia.org/wiki/Hyperprolactinaemia | 2021-01-18T18:37:01 | {"gard": ["6037"], "mesh": ["D006966"], "umls": ["C0008043", "C0020514"], "icd-9": ["253.1"], "orphanet": ["397685"], "wikidata": ["Q1433936"]} |
## Clinical Features
Ayers (1899) reported a 3-month-old black fetus with 'pithecoid' ears, involving the presence of a Darwinian point on the outer helix that was more prominent on the left than the right. In addition, the author described a trough extending from the external edge of the helical border forward, downward, and inward across the antihelical depression into the depths of the fossa angularis, and stated that there had been only the 'faintest indication' of this groove in embryonic ears he had previously examined. Ayers (1899) also noted that he had observed in children the presence of a 'tuft of relatively long hairs upon the Darwinian point' that seemed to disappear later, as he had not seen it on any adult ear; he proposed the term 'Darwinian tuft,' and suggested that it represented a remnant of the apical hair tuft commonly developed in mammals and often reaching a significant size, as in the lynx.
Noting that the 'tuberculum darwinii' was the most frequently studied characteristic of the ear, Quelprud (1935) examined the ears of 116 pairs of identical twins, 127 fraternal twins, 718 unrelated individuals from rural Germany, 559 Berlin students, and 147 schoolgirls, classifying cases by the degree of size or projection, from very pronounced to absence of the trait. Differences were observed to depend on age and sex: in males the tubercle generally increased in size with increasing age, whereas in females the reverse was the case. Variations were also found between the right and left ear, with the tubercle being more developed on the right, and when unilateral, the right side predominated. The author stated that the twin studies clearly revealed the hereditary nature of the trait.
Winchester (1958) reported a 6-generation family segregating a 'rather conspicuous point or tubercle' on the infolded edge of the outer portion of the ear, the so-called 'Darwin's ear point,' as an autosomal dominant with incomplete penetrance. The trait showed variable expressivity, being unilateral in some affected individuals and bilateral in others.
Hoyme (1993) discussed minor anomalies, including the Darwinian point or tubercle of the pinna, and stated that the significance of minor anomalies lies in the fact that they may be external indicators of occult major anomalies and/or part of a pattern that defines a multiple malformation syndrome.
Hunter and Yotsuyanagi (2005) reviewed the embryologic development and morphology of the external ear and suggested that the Darwinian tubercle might lie in the ultimate position of the fifth (hyoid) hillock (as shown in the figures of Streeter, 1922) and represent a simple exuberance of that hillock during embryogenesis, and that the small nick or notch that is sometimes seen in the same area, the so-called 'Darwinian notch,' might represent a relative growth failure. They noted that to date there was no clinical significance or specific syndromic association attached to the Darwinian tubercle.
INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Expansion of helical fold at superior point of true longitudinal axis of ear ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| DARWINIAN TUBERCLE OF PINNA | c2751189 | 7,273 | omim | https://www.omim.org/entry/124300 | 2019-09-22T16:42:35 | {"omim": ["124300"], "synonyms": ["Alternative titles", "DARWINIAN POINT OF PINNA"]} |
Anagen effluvium
SpecialtyDermatology
Anagen effluvium is the pathologic loss of anagen or growth-phase hairs. Classically, it is caused by radiation therapy to the head and systemic chemotherapy, especially with alkylating agents.[1][2]:753–4
## See also[edit]
* Telogen effluvium
* Noncicatricial alopecia
* List of cutaneous conditions
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 640. McGraw-Hill. ISBN 0-07-138076-0.
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
## External links[edit]
Classification
D
* ICD-10: L65.1 (ILDS L65.100)
* DiseasesDB: 29594
* v
* t
* e
Disorders of skin appendages
Nail
* thickness: Onychogryphosis
* Onychauxis
* color: Beau's lines
* Yellow nail syndrome
* Leukonychia
* Azure lunula
* shape: Koilonychia
* Nail clubbing
* behavior: Onychotillomania
* Onychophagia
* other: Ingrown nail
* Anonychia
* ungrouped: Paronychia
* Acute
* Chronic
* Chevron nail
* Congenital onychodysplasia of the index fingers
* Green nails
* Half and half nails
* Hangnail
* Hapalonychia
* Hook nail
* Ingrown nail
* Lichen planus of the nails
* Longitudinal erythronychia
* Malalignment of the nail plate
* Median nail dystrophy
* Mees' lines
* Melanonychia
* Muehrcke's lines
* Nail–patella syndrome
* Onychoatrophy
* Onycholysis
* Onychomadesis
* Onychomatricoma
* Onychomycosis
* Onychophosis
* Onychoptosis defluvium
* Onychorrhexis
* Onychoschizia
* Platonychia
* Pincer nails
* Plummer's nail
* Psoriatic nails
* Pterygium inversum unguis
* Pterygium unguis
* Purpura of the nail bed
* Racquet nail
* Red lunulae
* Shell nail syndrome
* Splinter hemorrhage
* Spotted lunulae
* Staining of the nail plate
* Stippled nails
* Subungual hematoma
* Terry's nails
* Twenty-nail dystrophy
Hair
Hair loss/
Baldness
* noncicatricial alopecia: Alopecia
* areata
* totalis
* universalis
* Ophiasis
* Androgenic alopecia (male-pattern baldness)
* Hypotrichosis
* Telogen effluvium
* Traction alopecia
* Lichen planopilaris
* Trichorrhexis nodosa
* Alopecia neoplastica
* Anagen effluvium
* Alopecia mucinosa
* cicatricial alopecia: Pseudopelade of Brocq
* Central centrifugal cicatricial alopecia
* Pressure alopecia
* Traumatic alopecia
* Tumor alopecia
* Hot comb alopecia
* Perifolliculitis capitis abscedens et suffodiens
* Graham-Little syndrome
* Folliculitis decalvans
* ungrouped: Triangular alopecia
* Frontal fibrosing alopecia
* Marie Unna hereditary hypotrichosis
Hypertrichosis
* Hirsutism
* Acquired
* localised
* generalised
* patterned
* Congenital
* generalised
* localised
* X-linked
* Prepubertal
Acneiform
eruption
Acne
* Acne vulgaris
* Acne conglobata
* Acne miliaris necrotica
* Tropical acne
* Infantile acne/Neonatal acne
* Excoriated acne
* Acne fulminans
* Acne medicamentosa (e.g., steroid acne)
* Halogen acne
* Iododerma
* Bromoderma
* Chloracne
* Oil acne
* Tar acne
* Acne cosmetica
* Occupational acne
* Acne aestivalis
* Acne keloidalis nuchae
* Acne mechanica
* Acne with facial edema
* Pomade acne
* Acne necrotica
* Blackhead
* Lupus miliaris disseminatus faciei
Rosacea
* Perioral dermatitis
* Granulomatous perioral dermatitis
* Phymatous rosacea
* Rhinophyma
* Blepharophyma
* Gnathophyma
* Metophyma
* Otophyma
* Papulopustular rosacea
* Lupoid rosacea
* Erythrotelangiectatic rosacea
* Glandular rosacea
* Gram-negative rosacea
* Steroid rosacea
* Ocular rosacea
* Persistent edema of rosacea
* Rosacea conglobata
* variants
* Periorificial dermatitis
* Pyoderma faciale
Ungrouped
* Granulomatous facial dermatitis
* Idiopathic facial aseptic granuloma
* Periorbital dermatitis
* SAPHO syndrome
Follicular cysts
* "Sebaceous cyst"
* Epidermoid cyst
* Trichilemmal cyst
* Steatocystoma
* simplex
* multiplex
* Milia
Inflammation
* Folliculitis
* Folliculitis nares perforans
* Tufted folliculitis
* Pseudofolliculitis barbae
* Hidradenitis
* Hidradenitis suppurativa
* Recurrent palmoplantar hidradenitis
* Neutrophilic eccrine hidradenitis
Ungrouped
* Acrokeratosis paraneoplastica of Bazex
* Acroosteolysis
* Bubble hair deformity
* Disseminate and recurrent infundibulofolliculitis
* Erosive pustular dermatitis of the scalp
* Erythromelanosis follicularis faciei et colli
* Hair casts
* Hair follicle nevus
* Intermittent hair–follicle dystrophy
* Keratosis pilaris atropicans
* Kinking hair
* Koenen's tumor
* Lichen planopilaris
* Lichen spinulosus
* Loose anagen syndrome
* Menkes kinky hair syndrome
* Monilethrix
* Parakeratosis pustulosa
* Pili (Pili annulati
* Pili bifurcati
* Pili multigemini
* Pili pseudoannulati
* Pili torti)
* Pityriasis amiantacea
* Plica neuropathica
* Poliosis
* Rubinstein–Taybi syndrome
* Setleis syndrome
* Traumatic anserine folliculosis
* Trichomegaly
* Trichomycosis axillaris
* Trichorrhexis (Trichorrhexis invaginata
* Trichorrhexis nodosa)
* Trichostasis spinulosa
* Uncombable hair syndrome
* Wooly hair nevus
Sweat
glands
Eccrine
* Miliaria
* Colloid milium
* Miliaria crystalline
* Miliaria profunda
* Miliaria pustulosa
* Miliaria rubra
* Occlusion miliaria
* Postmiliarial hypohidrosis
* Granulosis rubra nasi
* Ross’ syndrome
* Anhidrosis
* Hyperhidrosis
* Generalized
* Gustatory
* Palmoplantar
Apocrine
* Body odor
* Chromhidrosis
* Fox–Fordyce disease
Sebaceous
* Sebaceous hyperplasia
This condition of the skin appendages article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Anagen effluvium | c0263519 | 7,274 | wikipedia | https://en.wikipedia.org/wiki/Anagen_effluvium | 2021-01-18T19:03:46 | {"icd-10": ["L65.100", "L65.1"], "wikidata": ["Q4750829"]} |
Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.
## Epidemiology
The disease has been reported worldwide, but is more frequent in Ashkenazi Jewish population. The incidence of the severe form of CD in the non-Jewish population has been estimated at approximately 1:100,000 births. If both parents are of Ashkenazi Jewish descent, the incidence is 1:6,400 to 1:13,500.
## Clinical description
Onset of severe CD is in infancy. Patients have hypotonia, head lag, and macrocephaly. Developmental delay is most frequently noticed between the 3rd and 5th months of life: patients fail to achieve independent sitting, ambulation and speech. The head circumference increases after the age of 6 months and is usually above the 90th percentile by one year of age. With age, hypotonia progresses to spasticity, seizures may occur and optic atrophy is apparent. Children are often irritable and exhibit sleep disturbance. Gastro-esophageal reflux leads to feeding difficulties, requiring nasogastric feeding or permanent feeding gastrostomy.
## Etiology
CD is caused by mutations in the ASPA gene (17p13.3), coding for the aspartoacylase enzyme, the only enzyme responsible for the deacetylation of N-acetyl-L-aspartic acid (NAA) in the brain. Enzymatic activity is usually totally absent in severe CD. The most frequent mutations found in Ashkenazi Jews are a missense (E285A) and a nonsense (Y231X) mutation (84% and 13.4%, respectively). In the non-Jewish population the mutations are different and more diverse, the most common being the A305E missense mutation.
## Diagnostic methods
Diagnosis is suspected based on the clinical findings of hypotonia, macrocephaly and head lag. The urine reveals a very high concentration of NAA. Cerebro-spinal fluid and blood also contain high levels of NAA. Brain CT scan or MRI show diffuse white matter degeneration and leukodystrophy progressing with age. Mutation screening can be performed for molecular diagnosis.
## Differential diagnosis
Differential diagnosis includes other neurodegenerative disorders such as Alexander disease, Tay-Sachs disease, metachromatic leukodystrophy, and glutaric acidemia type 1 (see these terms). Spongy degeneration of the brain can be observed in Leigh syndrome and glycine encephalopathy (see these terms) or other mitochondrial disorders and viral infections.
## Antenatal diagnosis
Antenatal diagnosis is feasible by DNA analysis when the proband mutation is known. Preimplantation diagnosis using a single cell mutation analysis is feasible in an at-risk pregnancy. When mutation analysis is not available, determining the concentration of NAA in the amniotic fluid may be used for the diagnosis.
## Genetic counseling
CD is an autosomal recessively transmitted disease, recurrence risk is 25%. Carrier molecular genetic testing is available in a clinical setting. Ashkenazi Jewish individuals are tested for the most prevalent mutations. For non-Jewish couples, genotype should be determined using molecular diagnostic techniques.
## Management and treatment
There is no curative treatment for severe CD. Management is supportive and relies on feeding assistance, physical therapy to improve the muscular status, antiepileptic drugs and therapies to improve communication skills. Research for gene therapy and enzyme replacement therapy is ongoing.
## Prognosis
Prognosis is variable but globally poor. Life expectancy is about one decade, although with advances in medical and nursing care, some patients survive into their adolescence or young adulthood. Morbidity is also severe, with a total dependence for daily living activities.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Severe Canavan disease | c0751664 | 7,275 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314911 | 2021-01-23T18:19:06 | {"mesh": ["D017825"], "omim": ["271900"], "umls": ["C0751664", "C0751666"], "icd-10": ["E75.2"], "synonyms": ["Infantile Canavan disease", "Neonatal Canavan disease"]} |
Pulmonary enteric adenocarcinoma
SpecialtyOncology/pulmonology
Pulmonary enteric adenocarcinoma is rare subtype of pulmonary adenocarcinoma.[1][2]
## Contents
* 1 Presentation
* 2 Histology
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 Epidemiology
* 7 History
* 8 References
## Presentation[edit]
The presentation is similar to that of other lung cancers. There is nothing in the radiological appearances that would suggest this particular histology. Two-thirds of reported cases have occurred in the right lung. The reason for this difference is not known and may be due to chance.[citation needed]
## Histology[edit]
The typical histological appearance of this tumour of tall columnar cells arranged in an irregular glandular cavity or cribriform pattern with extensive central necrosis. The cells resemble those of the intestinal epithelium and colorectal carcinomas.[citation needed]
## Diagnosis[edit]
Diagnosis of this type of lung cancer is by biopsy, histology and special staining. CT and colonoscopy to rule out a colonic primary are recommended.[citation needed]
## Treatment[edit]
Optimal treatment for this condition is not known. Surgery to remove the lesion is the usual form of treatment. Whether radiotherapy or chemotherapy can offer any advantage is not known.[citation needed]
## Prognosis[edit]
The small number of reported cases makes any prognostication extremely difficult. Survival seems to be somewhat better than the more common types of lung cancer.
## Epidemiology[edit]
This type is considered to be rare with fewer than 30 reports in the literature.[3] The male:female ratio is approximately 1. This condition is more common in smokers.
## History[edit]
This type of lung cancer was first recognised by the International Association for the Study of Lung Cancer in 2011. It was first described in 1991.[4]
## References[edit]
1. ^ Yousem, S. A. (2005). "Pulmonary intestinal-type adenocarcinoma does not show enteric differentiation by immunohistochemical study". Modern Pathology. 18 (6): 816–21. doi:10.1038/modpathol.3800358. PMID 15605076.
2. ^ Lin, D; Zhao, Y; Li, H; Xing, X (2013). "Pulmonary enteric adenocarcinoma with villin brush border immunoreactivity: A case report and literature review". Journal of Thoracic Disease. 5 (1): E17–20. doi:10.3978/j.issn.2072-1439.2012.06.06. PMC 3547996. PMID 23372961.
3. ^ Lin D, Zhao Y, Li H, Xing X (2013) Pulmonary enteric adenocarcinoma with villin brush border immunoreactivity: a case report and literature review. Journal of Thoracic Disease 5:E17–20
4. ^ Tsao MS, Fraser RS (1991) Primary pulmonary adenocarcinoma with enteric differentiation. Cancer 68:1754–1757
This article about a medical condition affecting the respiratory system is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This article about a neoplasm is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Pulmonary enteric adenocarcinoma | None | 7,276 | wikipedia | https://en.wikipedia.org/wiki/Pulmonary_enteric_adenocarcinoma | 2021-01-18T18:28:50 | {"wikidata": ["Q16866907"]} |
Thrombophlebitis
Other namesPhlebitis[1]
Ultrasonographic image showing thrombosis of the great saphenous vein.
SpecialtyCardiology
SymptomsSkin redness[1]
Risk factorsSmoking, Lupus[1]
Diagnostic methodDoppler ultrasound, Venography[1]
TreatmentBlood thinners, Pain medication[1]
Thrombophlebitis is a phlebitis (inflammation of a vein) related to a thrombus (blood clot).[2] When it occurs repeatedly in different locations, it is known as thrombophlebitis migrans (migratory thrombophlebitis).[3]
## Contents
* 1 Signs and symptoms
* 1.1 Complications
* 2 Causes
* 3 Diagnosis
* 4 Prevention
* 5 Treatment
* 6 Epidemiology
* 7 See also
* 8 References
* 9 Further reading
* 10 External links
## Signs and symptoms[edit]
The following symptoms or signs are often associated with thrombophlebitis, although thrombophlebitis is not restricted to the veins of the legs.[1][4]
* Pain (area affected)
* Skin redness/inflammation
* Edema (ankle and foot)
* Veins being hard and cord-like
* Tenderness (leg)
### Complications[edit]
In terms of complications, one of the most serious occurs when the superficial blood clot is associated with a deep vein thrombosis; this can then dislodge, traveling through the heart and occluding the dense capillary network of the lungs This is a pulmonary embolism which can be life-threatening.[5]
## Causes[edit]
Deep vein thrombosis/ right leg
Thrombophlebitis causes include disorders related to increased tendency for blood clotting and reduced speed of blood in the veins such as prolonged immobility; prolonged traveling (sitting) may promote a blood clot leading to thrombophlebitis but this occurs relatively less. High estrogen states such as pregnancy, estrogen replacement therapy, or oral contraceptives are associated with an increased risk of thrombophlebitis.[1][4][6]
Specific disorders associated with thrombophlebitis include superficial thrombophlebitis which affects veins near the skin surface, deep vein thrombosis which affects deeper veins, and pulmonary embolism.[7]
Those with familial clotting disorders such as protein S deficiency, protein C deficiency, or factor V Leiden are also at increased risk of thrombophlebitis. Thrombophlebitis can be found in people with vasculitis including Behçet's disease. Thrombophlebitis migrans can be a sign of malignancy – Trousseau sign of malignancy.[8]
## Diagnosis[edit]
The diagnosis for thrombophlebitis is primarily based on the appearance of the affected area. Frequent checks of the pulse, blood pressure, and temperature may be required. If the cause is not readily identifiable, tests may be performed to determine the cause, including the following:[1][4]
* Doppler ultrasound
* Extremity arteriography
* Blood coagulation studies (Blood clotting tests)
## Prevention[edit]
Prevention consists of walking, drinking fluids and if currently hospitalized, changing of IV lines.[1] Walking is especially suggested after a long period seated, particularly when one travels.[9]
## Treatment[edit]
Ibuprofen (NSAID)
In terms of treatment for this condition the individual may be advised to do the following: raise the affected area to decrease swelling, and relieve pressure off of the affected area so it will encounter less pain. In certain circumstances drainage of the clot might be an option. In general, treatment may include the following:[1][4][5]
* Low molecular weight heparin
* Warfarin
* Surgery
* Nonsteroidal anti-inflammatory medications (NSAIDS) (Ibuprofen)
* Support stockings
## Epidemiology[edit]
Thrombophlebitis occurs almost equally between women and men, though males do have a slightly higher possibility. The average age of developing thrombophlebitis, based on analyzed incidents, is 54 for men and 58 for women.[5]
## See also[edit]
* Mondor's disease
* Phlebothrombosis
## References[edit]
1. ^ a b c d e f g h i j "Thrombophlebitis: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 23 September 2016.
2. ^ Torpy JM, Burke AE, Glass RM (July 2006). "JAMA patient page. Thrombophlebitis". JAMA. 296 (4): 468. doi:10.1001/jama.296.4.468. PMID 16868304.
3. ^ Jinna, Sruthi; Khoury, John (2020). "Migratory Thrombophlebitis". StatPearls. StatPearls Publishing. PMID 31613482.
4. ^ a b c d "Thrombophlebitis Clinical Presentation: History, Physical Examination, Causes". emedicine.medscape.com. Retrieved 23 October 2016.
5. ^ a b c Raval, P. (1 January 2014). "Thrombophlebitis☆". Reference Module in Biomedical Sciences. Elsevier. Retrieved 2 January 2021.
6. ^ Philbrick, John T.; Shumate, Rebecca; Siadaty, Mir S.; Becker, Daniel M. (23 October 2016). "Air Travel and Venous Thromboembolism: A Systematic Review". Journal of General Internal Medicine. 22 (1): 107–114. doi:10.1007/s11606-006-0016-0. ISSN 0884-8734. PMC 1824715. PMID 17351849.
7. ^ "Superficial Thrombophlebitis: Background, Pathophysiology, Etiology". eMedicine. Medscape. 12 July 2016. Retrieved 23 October 2016.
8. ^ Varki, Ajit (15 September 2007). "Trousseau's syndrome: multiple definitions and multiple mechanisms". Blood. 110 (6): 1723–1729. doi:10.1182/blood-2006-10-053736. ISSN 0006-4971. PMC 1976377. PMID 17496204.
9. ^ Tamparo, Carol D. (2016). Diseases of the Human Body. F.A. Davis. p. 292. ISBN 9780803657915. Retrieved 23 October 2016.
## Further reading[edit]
* Sadick, Neil S.; Khilnani, Neil; Morrison, Nick (2012). Practical Approach to the Management and Treatment of Venous Disorders. Springer Science & Business Media. ISBN 9781447128915. Retrieved 23 October 2016.
* Mulholland, Michael W.; Lillemoe, Keith D.; Doherty, Gerard M.; Maier, Ronald V.; Simeone, Diane M.; Upchurch, Gilbert R. (2012). Greenfield's Surgery: Scientific Principles & Practice. Lippincott Williams & Wilkins. ISBN 9781451152920. Retrieved 23 October 2016.
## External links[edit]
Classification
D
* ICD-10: I80, I82.1
* ICD-9-CM: 451
* MeSH: D013924
* SNOMED CT: 64156001
External resources
* MedlinePlus: 001108
Scholia has a topic profile for Thrombophlebitis.
* v
* t
* e
Cardiovascular disease (vessels)
Arteries, arterioles
and capillaries
Inflammation
* Arteritis
* Aortitis
* Buerger's disease
Peripheral artery disease
Arteriosclerosis
* Atherosclerosis
* Foam cell
* Fatty streak
* Atheroma
* Intermittent claudication
* Critical limb ischemia
* Monckeberg's arteriosclerosis
* Arteriolosclerosis
* Hyaline
* Hyperplastic
* Cholesterol
* LDL
* Oxycholesterol
* Trans fat
Stenosis
* Carotid artery stenosis
* Renal artery stenosis
Other
* Aortoiliac occlusive disease
* Degos disease
* Erythromelalgia
* Fibromuscular dysplasia
* Raynaud's phenomenon
Aneurysm / dissection /
pseudoaneurysm
* torso: Aortic aneurysm
* Abdominal aortic aneurysm
* Thoracic aortic aneurysm
* Aneurysm of sinus of Valsalva
* Aortic dissection
* Aortic rupture
* Coronary artery aneurysm
* head / neck
* Intracranial aneurysm
* Intracranial berry aneurysm
* Carotid artery dissection
* Vertebral artery dissection
* Familial aortic dissection
Vascular malformation
* Arteriovenous fistula
* Arteriovenous malformation
* Telangiectasia
* Hereditary hemorrhagic telangiectasia
Vascular nevus
* Cherry hemangioma
* Halo nevus
* Spider angioma
Veins
Inflammation
* Phlebitis
Venous thrombosis /
Thrombophlebitis
* primarily lower limb
* Deep vein thrombosis
* abdomen
* Hepatic veno-occlusive disease
* Budd–Chiari syndrome
* May–Thurner syndrome
* Portal vein thrombosis
* Renal vein thrombosis
* upper limb / torso
* Mondor's disease
* Paget–Schroetter disease
* head
* Cerebral venous sinus thrombosis
* Post-thrombotic syndrome
Varicose veins
* Gastric varices
* Portacaval anastomosis
* Caput medusae
* Esophageal varices
* Hemorrhoid
* Varicocele
Other
* Chronic venous insufficiency
* Chronic cerebrospinal venous insufficiency
* Superior vena cava syndrome
* Inferior vena cava syndrome
* Venous ulcer
Arteries or veins
* Angiopathy
* Macroangiopathy
* Microangiopathy
* Embolism
* Pulmonary embolism
* Cholesterol embolism
* Paradoxical embolism
* Thrombosis
* Vasculitis
Blood pressure
Hypertension
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
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*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
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| Thrombophlebitis | c0040046 | 7,277 | wikipedia | https://en.wikipedia.org/wiki/Thrombophlebitis | 2021-01-18T19:02:32 | {"mesh": ["D013924"], "umls": ["C0265057", "C0040046"], "wikidata": ["Q377978"]} |
Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies). Only about 50 cases have been described in the medical literature. Features include severe microcephaly, growth deficiency and short stature, mild physical abnormalities, eye abnormalities, problems with the brain and central nervous system, seizures, developmental delay, and intellectual disability. The risk for cancer is increased, with rhabdomyosarcoma, Wilm's tumor, and leukemia reported in several cases.
MVA syndrome is an autosomal recessive condition. It can be caused by changes (mutations) in the BUB1B gene or the CEP57 gene. The BUB1B gene encodes BubR1, a key protein in mitotic spindle checkpoint function. The CEP57 gene is involved in microtubule stabilization. Both play a role in the process of cell division. Treatment depends on the symptoms present in each person, but may include growth hormone therapy. Individuals with a BUB1B mutations should also be offered cancer screening.
*[v]: View this template
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*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
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*[CREB]: cAMP response element-binding protein
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*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
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*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
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*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
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*[COL]: Colombia
*[KAZ]: Kazakhstan
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*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Mosaic variegated aneuploidy syndrome | c1850343 | 7,278 | gard | https://rarediseases.info.nih.gov/diseases/3007/mosaic-variegated-aneuploidy-syndrome | 2021-01-18T17:58:58 | {"mesh": ["C536987"], "omim": ["257300", "614114"], "orphanet": ["1052"], "synonyms": ["MVA syndrome", "Warburton-Anyane-Yeboa syndrome"]} |
Graves (1921) found that about 54% of persons have a convex vertebral border, about 26% have a straight vertebral border, and about 20% have a concave border.
Skel \- Vertebral border contour of scapula Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| SCAPULA, CONTOUR OF VERTEBRAL BORDER OF | c1867019 | 7,279 | omim | https://www.omim.org/entry/181300 | 2019-09-22T16:35:05 | {"omim": ["181300"]} |
Febrile infection-related epilepsy syndrome
Other namesAcute encephalitis with refractory, repetitive partial seizures (AERRPS), new-onset refractory status epilepticus (NORSE), devastating epilepsy in school-aged children (DESC).
SymptomsPrior febrile illness with or without upper respiratory tract infection and/or gastroenteritis. Convulsive seizures within two weeks of fever.
ComplicationsSevere intractable epilepsy, status epilepticus
Usual onsetAges 3-15
DurationAcute phase lasts 1-12 weeks. Chronic phase is lifelong pharmacoresistent epilepsy and intellectual disability.
CausesUnknown, preceded by unspecified febrile illness
PrognosisPoor, 82% of patients experience some level of permanent intellectual disability ranging from mild to vegetative state.
Frequency1 in 1,000,000
Deaths30% mortality rate
Febrile infection-related epilepsy syndrome (FIRES) is an epilepsy syndrome in which new-onset refractory status epilepticus (NORSE) is preceded by febrile illness 24 hours to 2 weeks prior to the onset of seizures. The term was previously used for a paediatric syndrome but was redefined to include all ages.[1]
FIRES was previously to refer to this syndrome in children aged three to fifteen years old. A healthy child that may have been ill in the last few days or with a lingering fever goes into a state of continuous seizures. The seizures are resistant to seizure medications and treatments, though barbiturates may be administered.[2] Medical diagnostic tests may initially return no clear diagnosis and may not detect any obvious swelling on the brain. The syndrome is very rare: it may only affect 1 in 1,000,000 children.[3]
## Contents
* 1 Signs and symptoms
* 2 EEG Findings
* 3 Cause
* 4 Diagnosis
* 5 Treatment
* 6 History
* 7 References
* 8 External links
## Signs and symptoms[edit]
FIRES starts with a febrile illness up to two weeks before seizure onset. These seizures damage the frontal lobe's cognitive brain function such as memory and sensory abilities. This can result in learning disabilities,[2] behavioral disorders, memory issues, sensory changes, and possibly death. Children continue to have seizures throughout their lives.
## EEG Findings[edit]
EEG findings suggest FIRES is a focal process with focal onset seizures. In a 2011 study of 77 FIRES patients, 58 had focal seizures. Of the 58, 50 had secondarily generalizing seizures (seizures that evolve from focal to generalized).[2][4] On a 10-20 scalp electrode EEG, the ictal activity commonly begins temporally and spreads hemispherically and/or bilaterally.[5] Interictally, patients may have slowing that may be considered an encephalopathic pattern.[6] A recent study of 12 FIRES patients demonstrated diffuse delta-theta background slowing interictally in all 12 cases.[7]
## Cause[edit]
The cause of FIRES is not known.[8] There are some common clinical symptoms, such as onset after a nonspecific febrile illness, gastrointestinal illness, or upper respiratory infection. This prior illness is often cleared 1–14 days prior to the patient's first seizures. There are theories of an immunological source, a genetic predisposition, and an inflammation-mediated process, but the definite cause is unknown. It is more common in boys more than girls.[9][10]
## Diagnosis[edit]
FIRES is difficult to diagnose due to its rarity and lack of definitive biomarker. It is often diagnosed by ruling out other options such as infectious, toxic, metabolic, and genetic causes. FIRES will consist of two phases - acute and chronic. The acute phase consists of highly recurrent focal seizures, rapidly evolving into refractory status epilepticus. The chronic phase consists of drug-resistant epilepsy with cognitive impairment.[citation needed]
## Treatment[edit]
* Ketogenic diet is effective in some cases, with efficacy ranging from 16% to over 85%[2][11][12]
* Vagus nerve stimulation helps control seizure activity after recovery from status.
* Intravenous immunoglobulin treatment is being explored as an option to treat this form of epilepsy.[13]
* Barbiturates have been shown to be effective in treating status epilepsy.[14]
## History[edit]
FIRES was named in 2008 by Dr. Andreas van Baalen and colleagues.[15] Previous names include AERRPS (acute encephalitis with refractory, repetitive partial seizures), DESC (Devastating Epilepsy in School-aged Children),[16] and NORSE (New-Onset Refractory Status Epilepticus).[16]
## References[edit]
1. ^ Hirsch, LU; Gaspard, N; van Baalen, A; Nabbout, R; Demeret, S; Loddenkemper, T; Navarro, N; Specchio, N; Lagae, L; Rossetti, A; Hocker, S; Gofton, TE; Abend, NS; Gilmore, EJ; Hahn, C; Khosravani, H; Rosenow, F; Trinka, E (April 2018). "Proposed consensus definitions for new‐onset refractory status epilepticus (NORSE), febrile infection‐related epilepsy syndrome (FIRES), and related conditions". Epilepsia. 59 (4): 739–744. doi:10.1111/epi.14016. PMID 29399791.
2. ^ a b c d Kramer, U; Chi, CS; Lin, KL; Specchio, N; Sahin, M; Olson, H; Nabbout, R; Kluger, G; Lin, JJ; van Baalen, A (November 2011). "Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children". Epilepsia. 52 (11): 1956–65. doi:10.1111/j.1528-1167.2011.03250.x. PMID 21883180.
3. ^ van Baalen, A; Häusler, M; Plecko-Startinig, B; Strautmanis, J; Vlaho, S; Gebhardt, B; Rohr, A; Abicht, A; Kluger, G; Stephani, U; Probst, C; Vincent, A; Bien, CG (August 2012). "Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES". Neuropediatrics. 43 (4): 209–16. doi:10.1055/s-0032-1323848. PMID 22911482.
4. ^ Fox, Kristy; Wells, Mary Ellen; Tennison, Michael; Vaughn, Bradley (July 11, 2017). "Febrile Infection-Related Epilepsy Syndrome (FIRES): A Literature Review and Case Study". The Neurodiagnostic Journal. 57: 224–233.
5. ^ Howell, KB; Katanyuwong, K; Mackay, MT; Bailey, CA; Scheffer, IE; Freeman, JL; Berkovic, SF; Harvey, A (2012). "Long-term follow-up of febrile infection-related epilepsy syndrome". Epilepsia. 53: 101–110.
6. ^ Nabbout, R; Vezzani, A; Dulac, O; Chiron, C (2011). "Acute encephalopathy with inflammation-mediated status epilepticus". Lancet Neurol. 10: 99–108.
7. ^ Carabello, RH; Reyes, G; Avaria, MF; Buompadre, MC; Gonzalez, M; Fortini, S; Cersosimo, R (2013). "Febrile infection related epilepsy syndrome: a study of 12 patients". Seizure. 22: 553–559.
8. ^ "FEBRILE INFECTION RELATED EPILEPSY". www.epilepsydiagnosis.org. Retrieved 7 October 2014.
9. ^ Appenzeller, S; Helbig, I; Stephani, U; Haeusler, M; Kluger, G; Bungeroth, M; Müller, S; Kuhlenbäumer, G; Van Baalen, A (2012). "Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations". Dev Med Child Neurol 2012. 54: 1144–1148.
10. ^ van Baalen, A; Häusler, M; Boor, R; Rohr, A; Sperner, J; Kurlemann, G; Panzer, A; Stephani, U; Kluger, G (2010). "Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood". Epilepsia 2010. 51: 1323–1328.
11. ^ Mikaeloff, Y; Jambaqué, I; Hertz-Pannier, L; Zamfirescu, A; Adamsbaum, C; Pluin, P; Dulac, O; Chiron, C (2006). "Devastating epileptic encephalopathy in school-aged children (DESC): a pseudo encephalitis". Epilepsy Res. 69: 67–79.
12. ^ Nabbout, R; Mazzuca, M; Hubert, P; Peudennier, S; Allaire, C; Flurin, V; Aberastury, M; Silva, W; Dulac, O (2010). "Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES)". Epilepsia 2010. 51: 2033–2037.
13. ^ Gall, C.R.E., Jumma, O. & Mohanraj, R. 2013, "Five cases of new onset refractory status epilepticus (NORSE) syndrome: Outcomes with early immunotherapy", Seizure, vol. 22, no. 3, pp. 217-220
14. ^ Pranzatelli, M.R. & Nadi, N.S. 1995, "Mechanism of action of antiepileptic and antimyoclonic drugs.", Advances in Neurology, vol. 67, pp. 329-360.
15. ^ van Baalen, A; Häusler, M; Boor, R; Rohr, A; Sperner, J; Kurlemann, G; Panzer, A; Stephani, U; Kluger, G (July 2010). "Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood". Epilepsia. 51 (7): 1323–8. doi:10.1111/j.1528-1167.2010.02535.x. PMID 20345937.
16. ^ a b Simon Shorvon and Monica Ferlisi (2011-09-13). "The treatment of super-refractory status epilepticus: a critical review of available therapies and a clinical treatment protocol". Brain. Brain.oxfordjournals.org. 134 (Pt 10): 2802–2818. doi:10.1093/brain/awr215. PMID 21914716.
## External links[edit]
Classification
D
* ICD-10: G40.5
External resources
* Orphanet: 163703
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Febrile infection-related epilepsy syndrome | c4049262 | 7,280 | wikipedia | https://en.wikipedia.org/wiki/Febrile_infection-related_epilepsy_syndrome | 2021-01-18T18:43:23 | {"gard": ["11005"], "icd-10": ["G40.5"], "orphanet": ["163703"], "synonyms": ["AERRPS", "Acute encephalitis with refractory repetitive partial seizures", "Acute non-herpetic encephalitis with severe refractory status epilepticus", "DESC syndrome", "Devastating epileptic encephalopathy in school-aged children", "FIRES", "Fever-induced refractory epileptic encephalopathy in school-aged children", "Idiopathic catastrophic epileptic encephalopathy", "Severe refractory status epilepticus owing to presumed encephalitis"], "wikidata": ["Q17143712"]} |
Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia). Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner. Treatment is generally symptomatic and supportive.
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*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Spinocerebellar ataxia 7 | c0752125 | 7,281 | gard | https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7 | 2021-01-18T17:57:36 | {"mesh": ["D020754"], "omim": ["164500"], "orphanet": ["94147"], "synonyms": ["SCA7", "Spinocerebellar ataxia type 7", "Olivopontocerebellar atrophy 3", "OPCA3", "Autosomal dominant cerebellar ataxia type 2", "OPCA with retinal degeneration", "OPCA with macular degeneration and external ophthalmoplegia", "OPCA III", "ADCA, TYPE II"]} |
A number sign (#) is used with this entry because of evidence that 2,4-dienoyl-CoA reductase deficiency (DECRD) is caused by homozygous mutation in the NADK2 gene (615787) on chromosome 5p13. One such patient has been reported.
Description
DECR deficiency is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic dysfunction beginning in early infancy. Laboratory studies show decreased activity of the mitochondrial NADP(H)-dependent enzymes DECR1 (222745) and AASS (605113), resulting in increased C10:2-carnitine levels and hyperlysinemia (summary by Houten et al., 2014).
Clinical Features
In a black female infant presenting in the neonatal period with persistent hypotonia, Roe et al. (1990) found deficiency of 2,4-dienoyl-coenzyme A reductase. Biochemical studies had shown hyperlysinemia, hypocarnitinemia, a normal organic acid profile, and an unusual acylcarnitine species in both urine and blood. The latter metabolite was identified by mass spectrometry as 2-trans,4-cis-decadienoylcarnitine, derived from incomplete oxidation of linoleic acid. In spite of dietary therapy, the patient died of respiratory acidosis at 4 months of age. Samples of liver and muscle taken at autopsy showed that the level of 2,4-dienoyl-coenzyme A reductase activity was 40% of the control value in liver and only 17% of that found in normal muscle. Roe et al. (1990) stated that this was the first report of a patient with an enzyme defect related only to unsaturated fatty acid oxidation.
Houten et al. (2014) reported a male infant, born of unrelated Hispanic parents, who presented at 8 weeks of age with failure to thrive, microcephaly, central hypotonia, and mild dysmorphic features. Metabolic studies showed increased plasma C10:2-carnitine, low free carnitine, and increased lysine in plasma, cerebrospinal fluid (CSF), and urine. Blood and CSF lactate were also increased. Urinary organic acids showed several abnormalities consistent with mitochondrial dysfunction. Over the next few years, he showed little developmental progress and had multiple neurologic problems, including nystagmus, hypertonia, clonus, choreoathetosis, dystonia, spastic quadriplegia, cortical blindness, epilepsy, and episodic central apnea, all consistent with severe encephalopathy. Additional features included pancreatitis and renal tubular acidosis. Brain imaging showed progressive leukodystrophy, generalized cerebral atrophy, enlarged ventricles, and T2-weighted abnormalities in the basal ganglia. He died at age 5 years of aspiration pneumonia. Residual DECR activity was 10% in the lysate of patient fibroblasts, but no mutations were identified in the DECR1 gene.
Molecular Genetics
In a Hispanic boy with 2,4-dienoyl-CoA reductase deficiency, Houten et al. (2014) identified a homozygous nonsense mutation in the NADK2 gene (R340X; 615787.0001). The mutation was found by exome sequencing and segregated with the disorder in the family. Mitochondria isolated from patient fibroblasts showed decreased levels of NADP(H). Although NADPH did not restore DECR activity in patient cells, transfection of wildtype NADK2 was able to rescue the DECR deficiency. A mitochondrial stress test indicated overall decreased oxygen consumption and increased extracellular acidification in patient cells compared to controls. Houten et al. (2014) suggested that the severe phenotype likely resulted from impairment of multiple mitochondrial NADP-dependent processes.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Microcephaly Eyes \- Nystagmus \- Abnormal eye movements \- Cortical blindness MUSCLE, SOFT TISSUES \- Hypotonia, neonatal NEUROLOGIC Central Nervous System \- Encephalopathy \- Delayed psychomotor development, profound \- Lack of development \- Seizures \- Spasticity \- Quadriplegia \- Dystonia \- Choreoathetosis \- Leukodystrophy \- Cerebral atrophy \- Enlarged ventricles LABORATORY ABNORMALITIES \- Hyperlysinemia \- Decreased plasma free carnitine \- Increased C10:2-carnitine \- Increased lactate \- Abnormal urinary organic acids \- Decreased DECR enzyme activity \- Decreased mitochondrial NADP(H) MISCELLANEOUS \- Onset in the neonatal period or early infancy \- Death in early childhood \- Two unrelated patients have been reported, but NADK2 mutation has only been confirmed in 1 patient (last curated September 2014) MOLECULAR BASIS \- Caused by mutation in the mitochondrial NAD kinase 2 gene (NADK2, 615787.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY | c1857252 | 7,282 | omim | https://www.omim.org/entry/616034 | 2019-09-22T15:50:07 | {"mesh": ["C565624"], "omim": ["616034"], "orphanet": ["431361"]} |
For other uses, see Epiphora (disambiguation).
Epiphora (medicine)
SpecialtyOphthalmology
Epiphora is an overflow of tears onto the face, other than caused by normal crying. It is a clinical sign or condition that constitutes insufficient tear film drainage from the eyes, in that tears will drain down the face rather than through the nasolacrimal system.[1]
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Management
* 4 References
* 5 External links
## Cause[edit]
Causes of epiphora are any that cause either overproduction of tears or decreased drainage of tears, resulting in tearing onto the cheek.[2] This can be due to ocular irritation and inflammation (including trichiasis and entropion) or an obstructed tear outflow tract which is divided according to its anatomical location (i.e. ectropion, punctal, canalicular or nasolacrimal duct obstruction). The latter is often due to aging (a spontaneous process), conjunctivochalasis, infection (i.e. dacryocystitis), rhinitis, and in neonates or infants, failure of the nasolacrimal duct to open. Another cause could be poor reconstruction of the nasolacrimal duct system after trauma to the area. Cause of trauma could be facial fractures (including nasoethmoid fractures or maxillary Le Fort fractures), and soft tissue trauma involving the nose and/or the eyelid. This condition is often frustrating or irritating.[citation needed] A systematic review studying the usage of punctal plugs for treatment of dry eye reported a few cases of epiphora among participants.[3]
## Diagnosis[edit]
Diagnosis of epiphora is clinical by history presentation and observation of the lids. Fluorescein dye can be used to examine for punctal reflux by pressing on the canaliculi in which the clinician should note resistance of reflux as it irrigates through the punctum into the nose.
## Management[edit]
If epiphora is caused by ectropion or entropion, lid repair is indicated. Punctal irrigation is also required. In infants with nasolacrimal defects, a nasolacrimal duct probe is used and a tube replacement, either temporary (Crawford) or permanent (Jones), is carried out. A surgical procedure called a dacryocystorhinostomy is done to join the lacrimal sac to the nasal mucosa in order to restore lacrimal drainage.
## References[edit]
1. ^ "Handbook of Ocular Disease Management - Chronic Epiphora". Archived from the original on 2007-05-09. Retrieved 2007-05-13.
2. ^ "Leffler & Kuriakose Epiphora | HISTORIA OPHTHALMOLOGICA INTERNATIONALIS".
3. ^ Ervin AM, Law A, Pucker AD (2017). "Punctal occlusion for dry eye syndrome". Cochrane Database Syst Rev. 6: CD006775. doi:10.1002/14651858.CD006775.pub3. PMC 5568656. PMID 28649802.
## External links[edit]
Classification
D
* ICD-10: H04.2
* ICD-9-CM: 375.2
* DiseasesDB: 20632
External resources
* MedlinePlus: 003036
* Patient UK: Epiphora (medicine)
* v
* t
* e
* Diseases of the human eye
Adnexa
Eyelid
Inflammation
* Stye
* Chalazion
* Blepharitis
* Entropion
* Ectropion
* Lagophthalmos
* Blepharochalasis
* Ptosis
* Blepharophimosis
* Xanthelasma
* Ankyloblepharon
Eyelash
* Trichiasis
* Madarosis
Lacrimal apparatus
* Dacryoadenitis
* Epiphora
* Dacryocystitis
* Xerophthalmia
Orbit
* Exophthalmos
* Enophthalmos
* Orbital cellulitis
* Orbital lymphoma
* Periorbital cellulitis
Conjunctiva
* Conjunctivitis
* allergic
* Pterygium
* Pseudopterygium
* Pinguecula
* Subconjunctival hemorrhage
Globe
Fibrous tunic
Sclera
* Scleritis
* Episcleritis
Cornea
* Keratitis
* herpetic
* acanthamoebic
* fungal
* Exposure
* Photokeratitis
* Corneal ulcer
* Thygeson's superficial punctate keratopathy
* Corneal dystrophy
* Fuchs'
* Meesmann
* Corneal ectasia
* Keratoconus
* Pellucid marginal degeneration
* Keratoglobus
* Terrien's marginal degeneration
* Post-LASIK ectasia
* Keratoconjunctivitis
* sicca
* Corneal opacity
* Corneal neovascularization
* Kayser–Fleischer ring
* Haab's striae
* Arcus senilis
* Band keratopathy
Vascular tunic
* Iris
* Ciliary body
* Uveitis
* Intermediate uveitis
* Hyphema
* Rubeosis iridis
* Persistent pupillary membrane
* Iridodialysis
* Synechia
Choroid
* Choroideremia
* Choroiditis
* Chorioretinitis
Lens
* Cataract
* Congenital cataract
* Childhood cataract
* Aphakia
* Ectopia lentis
Retina
* Retinitis
* Chorioretinitis
* Cytomegalovirus retinitis
* Retinal detachment
* Retinoschisis
* Ocular ischemic syndrome / Central retinal vein occlusion
* Central retinal artery occlusion
* Branch retinal artery occlusion
* Retinopathy
* diabetic
* hypertensive
* Purtscher's
* of prematurity
* Bietti's crystalline dystrophy
* Coats' disease
* Sickle cell
* Macular degeneration
* Retinitis pigmentosa
* Retinal haemorrhage
* Central serous retinopathy
* Macular edema
* Epiretinal membrane (Macular pucker)
* Vitelliform macular dystrophy
* Leber's congenital amaurosis
* Birdshot chorioretinopathy
Other
* Glaucoma / Ocular hypertension / Primary juvenile glaucoma
* Floater
* Leber's hereditary optic neuropathy
* Red eye
* Globe rupture
* Keratomycosis
* Phthisis bulbi
* Persistent fetal vasculature / Persistent hyperplastic primary vitreous
* Persistent tunica vasculosa lentis
* Familial exudative vitreoretinopathy
Pathways
Optic nerve
Optic disc
* Optic neuritis
* optic papillitis
* Papilledema
* Foster Kennedy syndrome
* Optic atrophy
* Optic disc drusen
Optic neuropathy
* Ischemic
* anterior (AION)
* posterior (PION)
* Kjer's
* Leber's hereditary
* Toxic and nutritional
Strabismus
Extraocular muscles
Binocular vision
Accommodation
Paralytic strabismus
* Ophthalmoparesis
* Chronic progressive external ophthalmoplegia
* Kearns–Sayre syndrome
palsies
* Oculomotor (III)
* Fourth-nerve (IV)
* Sixth-nerve (VI)
Other strabismus
* Esotropia / Exotropia
* Hypertropia
* Heterophoria
* Esophoria
* Exophoria
* Cyclotropia
* Brown's syndrome
* Duane syndrome
Other binocular
* Conjugate gaze palsy
* Convergence insufficiency
* Internuclear ophthalmoplegia
* One and a half syndrome
Refraction
* Refractive error
* Hyperopia
* Myopia
* Astigmatism
* Anisometropia / Aniseikonia
* Presbyopia
Vision disorders
Blindness
* Amblyopia
* Leber's congenital amaurosis
* Diplopia
* Scotoma
* Color blindness
* Achromatopsia
* Dichromacy
* Monochromacy
* Nyctalopia
* Oguchi disease
* Blindness / Vision loss / Visual impairment
Anopsia
* Hemianopsia
* binasal
* bitemporal
* homonymous
* Quadrantanopia
subjective
* Asthenopia
* Hemeralopia
* Photophobia
* Scintillating scotoma
Pupil
* Anisocoria
* Argyll Robertson pupil
* Marcus Gunn pupil
* Adie syndrome
* Miosis
* Mydriasis
* Cycloplegia
* Parinaud's syndrome
Other
* Nystagmus
* Childhood blindness
Infections
* Trachoma
* Onchocerciasis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Epiphora (medicine) | c0152227 | 7,283 | wikipedia | https://en.wikipedia.org/wiki/Epiphora_(medicine) | 2021-01-18T18:40:01 | {"mesh": ["D007766"], "umls": ["C0152227"], "wikidata": ["Q1347256"]} |
Alveolar rhabdomyosarcoma
SpecialtyOncology
Alveolar rhabdomyosarcoma (ARMS) is a sub-type of the rhabdomyosarcoma soft tissue cancer family whose lineage is from mesenchymal cells and are related to skeletal muscle cells.[1] ARMS tumors resemble the alveoli tissue that can be found in the lungs.[1] Tumor location varies from patient to patient, but is commonly found in the head and neck region, male and female urogenital tracts, the torso, and extremities.[2] Two fusion proteins can be associated with ARMS, but are not necessary, PAX3-FKHR (now known as FOXO1).[3][4] and PAX7-FKHR.[5][6] In children and adolescents ARMS accounts for about 1 percent of all malignancies, has an incidence rate of 1 per million, and most cases occur sporadically with no genetic predisposition.[1] PAX3-FOXO1 is now known to drive cancer-promoting gene expression programs through creation of distant genetic elements called super enhancers.[7]
## Contents
* 1 Genetics
* 2 Pathology
* 2.1 Embryonic origin and epidemiology
* 2.2 Clinical
* 3 Prognosis
* 4 See also
* 5 References
* 6 External links
## Genetics[edit]
There is no genetic predisposition for developing ARMS, but there are a few genetic recombination events that occurs to cause the fusion protein to be synthesized. In order to have the PAX3-FOXO1 fusion there needs to be a recombination event that translocates part of chromosome 13 to chromosome 2, and for PAX7-FOXO1 fusion there must be a translocation of part of chromosome 13 to chromosome 1.[1] The 2;13 translocation reciprocal is often balanced and not amplified, while the 1;13 translocation reciprocal is sometimes viewed as balanced and sometimes not, so it is often amplified.[1] The PAX7-FOXO1 fusion is often amplified in tumors (about 70 percent of all PAX7-FOXO1 fusion positive tumors) and the PAX3-FOXO1 fusion is rarely amplified (only in 5 percent of all PAX3-FOXO1 fusion positive tumors).[1] About 60 percent of all ARMS cases are positive for PAX3-FOXO1 fusion gene, 20 percent are positive for PAX7-FOXO1 fusion gene, and the remaining 20 percent are fusion negative ARMS cases.[1] Both fusion genes are composed of either the PAX3 or PAX7 DNA binding domains and the FOXO1 transactivation domain.[1] This fusion causes a dysregulation of transcription and acts as an oncogene promoting cancer formation.
## Pathology[edit]
ARMS cells are often small with little cytoplasm. The nuclei of the cells are round with normal, dull, chromatin structures.[1] The ARMS cells often clump together and have fibrovascular septae that interrupts the aggregates. The fibrovascular septae that disrupts the aggregates often give the tumor the physiology of the alveoli found in the lungs.[1] In a few cases, there may not be any fibrovascular septae and this gives the tumor a more solid phenotype and no alveoli physiology.[1] Immunostaining for myogenin and for MyoD can be used to determine ARMS from other rhabdomyosarcoma tumors and immunostaining for AP2β and p-cadherin can distinguish fusion positive ARMS from fusion negative.[1]
### Embryonic origin and epidemiology[edit]
ARMS usually occurs in the skeletal muscles and is postulated to be derived from precursor cells within the muscle tissue.[1] During embryonic development ARMS occurs in the mesoderm which is the precursor for the skeletal muscle tissue.[1] ARMS accounts for roughly 20 to 30 percent of all rhabdomyosarcoma tumors and therefore accounts for roughly 1 percent of malignancies found in children and adolescents.[1] There is an age determination on which PAX proteins fuse together with the FOXO1 transcription factor. PAX3-FOXO1 positive subset of ARMS occurs mostly in older children and young adults, while PAX7-FOXO1 positive subset of ARMS and fusion negative subsets occur most often in younger children.[1]
### Clinical[edit]
ARMS usually occurs in the skeletal muscle tissue of the extremities, but it is still very common in the torso, head, and neck regions. The primary tumor often presents itself as a soft mass of tissue that is painless, but the tumor can be detected if it starts to put pressure on other structures in the primary site.[1] A large fraction of patients who are diagnosed with ARMS, roughly 25-30 percent, will have metastases at the time of diagnosis.[1] The standard sites for metastases to form are the bone marrow, the bones, and distal nodes. Typical treatment options for patients who have been diagnosed with ARMS include standard surgery, radiation therapy, and intensive chemotherapy.[1]
## Prognosis[edit]
Patients who have been diagnosed with ARMS often have poor outcomes. The four year survival rate without remission for local ARMS tumors is 65 percent, while the four year survival rate with metastatic ARMS is only 15 percent.[1] Patients who have metastatic ARMS positive with PAX3-FOXO1 fusion often have a poorer outcome than patients positive with PAX7-FOXO1 fusion, with a four-year survival rate of 8 percent and 75 percent respectively.[1] Other variables affect the four year survival rate, such as primary tumor site, size of primary tumor, amount of local invasion, number of distal lymph nodes spread to, and whether metastasis has occurred.[1] Prognosis for patients who have primary tumor sites within the bones often have higher survival rates and respond well to treatment options.[2] While patients who have primary tumor sites within the nasopharynx region with metastases to the breast have very poor outcomes.[8] Patients who are fusion protein negative with low risk clinical features should be treated with reduced therapy, while patients who are fusion protein positive with low risk clinical features should be treated as an intermediate risk and have more intensive therapy regimens.[9]
## See also[edit]
* FOXO genes
* Oncology
* Pax genes
## References[edit]
1. ^ a b c d e f g h i j k l m n o p q r s t u v Barr, FG (2009-01-01). "Soft tissue tumors: Alveolar rhabdomyosarcoma". Atlas of Genetics and Cytogenetics in Oncology and Haematology (12). doi:10.4267/2042/44650. hdl:2042/44650. ISSN 1768-3262.
2. ^ a b Balogh, Petra; Bánusz, Rita; Csóka, Monika; Váradi, Zsófia; Varga, Edit; Sápi, Zoltán (2016-01-01). "Primary alveolar rhabdomyosarcoma of the bone: two cases and review of the literature". Diagnostic Pathology. 11 (1): 99. doi:10.1186/s13000-016-0552-9. ISSN 1746-1596. PMC 5069778. PMID 27756397.
3. ^ Fredericks WJ, Galili N, Mukhopadhyay S, et al. (March 1995). "The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3". Mol. Cell. Biol. 15 (3): 1522–35. PMC 230376. PMID 7862145.
4. ^ Mercado GE, Xia SJ, Zhang C, et al. (June 2008). "Identification of PAX3-FKHR-regulated genes differentially expressed between alveolar and embryonal rhabdomyosarcoma: focus on MYCN as a biologically relevant target". Genes Chromosomes Cancer. 47 (6): 510–20. doi:10.1002/gcc.20554. PMID 18335505.
5. ^ Mercado GE, Barr FG (February 2007). "Fusions involving PAX and FOX genes in the molecular pathogenesis of alveolar rhabdomyosarcoma: recent advances". Curr. Mol. Med. 7 (1): 47–61. doi:10.2174/156652407779940440. PMID 17311532. Archived from the original on 2013-04-14.
6. ^ Laé M, Ahn EH, Mercado GE, et al. (June 2007). "Global gene expression profiling of PAX-FKHR fusion-positive alveolar and PAX-FKHR fusion-negative embryonal rhabdomyosarcomas". J. Pathol. 212 (2): 143–51. doi:10.1002/path.2170. PMID 17471488.
7. ^ Gryder, Berkley E.; Yohe, Marielle E.; Chou, Hsien-Chao; Zhang, Xiaohu; Marques, Joana; Wachtel, Marco; Schaefer, Beat; Sen, Nirmalya; Song, Young (August 2017). "PAX3-FOXO1 Establishes Myogenic Super Enhancers and Confers BET Bromodomain Vulnerability". Cancer Discovery. 7 (8): 884–899. doi:10.1158/2159-8290.CD-16-1297. ISSN 2159-8290. PMID 28446439.
8. ^ Liu, Hongmei; Zhao, Wei; Huang, Meijuan; Zhou, Xiaojuan; Gong, Youling; Lu, You (2015-11-01). "Alveolar rhabdomyosarcoma of nasopharynx and paranasal sinuses with metastasis to breast in a middle-aged woman: a case report and literature review". International Journal of Clinical and Experimental Pathology. 8 (11): 15316–15321. ISSN 1936-2625. PMC 4713673. PMID 26823887.
9. ^ Arnold, Michael A.; Anderson, James R.; Gastier-Foster, Julie M.; Barr, Frederic G.; Skapek, Stephen X.; Hawkins, Douglas S.; Raney, R. Beverly; Parham, David M.; Teot, Lisa A. (2017-04-20). "Histology, Fusion Status and Outcome in Alveolar Rhabdomyosarcoma with Low-Risk Clinical Features: A Report from the Children's Oncology Group". Pediatric Blood & Cancer. 63 (4): 634–639. doi:10.1002/pbc.25862. ISSN 1545-5009. PMC 4755849. PMID 26756883.
## External links[edit]
Classification
D
* ICD-O: M8920/3
* MeSH: D018232
* SNOMED CT: 404053004
External resources
* Orphanet: 99756
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
* Desmoplastic fibroma
Fibroma/fibromatosis:
* Aggressive infantile fibromatosis
* Aponeurotic fibroma
* Collagenous fibroma
* Diffuse infantile fibromatosis
* Familial myxovascular fibromas
* Fibroma of tendon sheath
* Fibromatosis colli
* Infantile digital fibromatosis
* Juvenile hyaline fibromatosis
* Plantar fibromatosis
* Pleomorphic fibroma
* Oral submucous fibrosis
Histiocytoma/histiocytic sarcoma:
* Benign fibrous histiocytoma
* Malignant fibrous histiocytoma
* Atypical fibroxanthoma
* Solitary fibrous tumor
Myxomatous
* Myxoma/myxosarcoma
* Cutaneous myxoma
* Superficial acral fibromyxoma
* Angiomyxoma
* Ossifying fibromyxoid tumour
Fibroepithelial
* Brenner tumour
* Fibroadenoma
* Phyllodes tumor
Synovial-like
* Synovial sarcoma
* Clear-cell sarcoma
Lipomatous
* Lipoma/liposarcoma
* Myelolipoma
* Myxoid liposarcoma
* PEComa
* Angiomyolipoma
* Chondroid lipoma
* Intradermal spindle cell lipoma
* Pleomorphic lipoma
* Lipoblastomatosis
* Spindle cell lipoma
* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
* Solitary cutaneous leiomyoma
* STUMP
Complex mixed and stromal
* Adenomyoma
* Pleomorphic adenoma
* Mixed Müllerian tumor
* Mesoblastic nephroma
* Wilms' tumor
* Malignant rhabdoid tumour
* Clear-cell sarcoma of the kidney
* Hepatoblastoma
* Pancreatoblastoma
* Carcinosarcoma
Mesothelial
* Mesothelioma
* Adenomatoid tumor
* v
* t
* e
Chromosome abnormalities
Autosomal
Trisomies/Tetrasomies
* Down syndrome
* 21
* Edwards syndrome
* 18
* Patau syndrome
* 13
* Trisomy 9
* Tetrasomy 9p
* Warkany syndrome 2
* 8
* Cat eye syndrome/Trisomy 22
* 22
* Trisomy 16
Monosomies/deletions
* (1q21.1 copy number variations/1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome/1p36 deletion syndrome)
* 1
* Wolf–Hirschhorn syndrome
* 4
* Cri du chat syndrome/Chromosome 5q deletion syndrome
* 5
* Williams syndrome
* 7
* Jacobsen syndrome
* 11
* Miller–Dieker syndrome/Smith–Magenis syndrome
* 17
* DiGeorge syndrome
* 22
* 22q11.2 distal deletion syndrome
* 22
* 22q13 deletion syndrome
* 22
* genomic imprinting
* Angelman syndrome/Prader–Willi syndrome (15)
* Distal 18q-/Proximal 18q-
X/Y linked
Monosomy
* Turner syndrome (45,X)
Trisomy/tetrasomy,
other karyotypes/mosaics
* Klinefelter syndrome (47,XXY)
* XXYY syndrome (48,XXYY)
* XXXY syndrome (48,XXXY)
* 49,XXXYY
* 49,XXXXY
* Triple X syndrome (47,XXX)
* Tetrasomy X (48,XXXX)
* 49,XXXXX
* Jacobs syndrome (47,XYY)
* 48,XYYY
* 49,XYYYY
* 45,X/46,XY
* 46,XX/46,XY
Translocations
Leukemia/lymphoma
Lymphoid
* Burkitt's lymphoma t(8 MYC;14 IGH)
* Follicular lymphoma t(14 IGH;18 BCL2)
* Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
* Anaplastic large-cell lymphoma t(2 ALK;5 NPM1)
* Acute lymphoblastic leukemia
Myeloid
* Philadelphia chromosome t(9 ABL; 22 BCR)
* Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
* Acute promyelocytic leukemia t(15 PML,17 RARA)
* Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
Other
* Ewing's sarcoma t(11 FLI1; 22 EWS)
* Synovial sarcoma t(x SYT;18 SSX)
* Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
* Myxoid liposarcoma t(12 DDIT3; 16 FUS)
* Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
* Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
Other
* Fragile X syndrome
* Uniparental disomy
* XX male syndrome/46,XX testicular disorders of sex development
* Marker chromosome
* Ring chromosome
* 6; 9; 14; 15; 18; 20; 21, 22
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Alveolar rhabdomyosarcoma | c0206655 | 7,284 | wikipedia | https://en.wikipedia.org/wiki/Alveolar_rhabdomyosarcoma | 2021-01-18T18:36:46 | {"gard": ["4701"], "mesh": ["D018232"], "umls": ["C0206655"], "orphanet": ["780", "99756"], "wikidata": ["Q4737958"]} |
The hand of benediction, also known as benediction sign or preacher's hand, occurs as a result of prolonged compression or injury of the median nerve at the forearm or elbow.[1][2]
## Cause[edit]
The term "hand of benediction" refers to damage of the median nerve. However, the name is misleading as the patients with this median nerve problem usually can flex all fingers except for the index finger. The index finger is still extended at the metacarpophalangeal joint (MCP joint) when the ulnar nerve innervated muscles (the interossei muscles) are still working. The index finger is not flexed at the proximal interphalangeal (PIP) and distal interphalangeal (DIP) joints, which looks like a pointing finger. Pointing Finger is therefore a much better term to recognize this condition.
The middle finger is flexed because of the connection between the flexor digitorum profundus (FDP) tendons, which is called the Quadriga phenomena.[3]
## History[edit]
The term "hand of benediction" refers to the similarity to a sign commonly used in Roman Catholicism, which is said to originate from Saint Peter. Some sources suggest that Peter himself may have had ulnar nerve entrapment.[4][5][6]
## References[edit]
1. ^ "Image of Hand of benediction". Stanford Medicine. Retrieved 28 May 2017.
2. ^ "The Hand Examination | Stanford Medicine 25". stanfordmedicine25.stanford.edu. Stanford Medicine. Retrieved 28 May 2017.
3. ^ Schreuders, T. A. R. (2011-12-14). "The quadriga phenomenon: a review and clinical relevance". Journal of Hand Surgery (European Volume). 37 (6): 513–522. doi:10.1177/1753193411430810. PMID 22170246.
4. ^ "The strange origin of the pope's gesture of blessing". www.cbsnews.com. Retrieved 2020-10-11.
5. ^ "From Vulcan salute to papal blessing: Ulnar nerve damage caused original benediction sign: New anatomy analysis reveals the origin of today's familiar hand blessing". ScienceDaily. Retrieved 2020-10-11.
6. ^ Futterman, Bennett (2015). "Analysis of the Papal Benediction Sign: The ulnar neuropathy of St. Peter". Clinical Anatomy. 28 (6): 696–701. doi:10.1002/ca.22584. ISSN 1098-2353.
This article about Orthopedic surgery is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Hand of benediction | None | 7,285 | wikipedia | https://en.wikipedia.org/wiki/Hand_of_benediction | 2021-01-18T19:07:11 | {"wikidata": ["Q5647184"]} |
A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia gravis, but not Addison disease, thyroid disease, or hypoparathyroidism.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Autoimmune polyendocrinopathy type 4 | c3266026 | 7,286 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=227990 | 2021-01-23T17:23:13 | {"icd-10": ["E31.0"], "synonyms": ["APS type 4", "APS4", "Autoimmune polyendocrine syndrome type 4", "Autoimmune polyglandular syndrome type 4"]} |
A number sign (#) is used with this entry because Hartnup disorder (HND) is caused by homozygous or compound heterozygous mutation in the SLC6A19 gene (608893) on chromosome 5p15.
Clinical Features
First described by Baron et al. (1956), this disorder is characterized by a pellagra-like light-sensitive rash, cerebellar ataxia, emotional instability, and amino aciduria. Scriver et al. (1985) suggested the existence of 2 forms of Hartnup disease: in the classic form the defect is expressed in both intestine and kidney; in a variant form it is expressed only in kidney. In the United States, cases of the full-blown clinical disorder are not seen, probably because of super-adequate diet.
Mahon and Levy (1986) reported on the childbearing experience in unrelated women with what they called Hartnup disorder and defined as an inborn error of neutral amino acid transport. Two living, unaffected offspring, born after untreated and uneventful pregnancies, one from each woman, had had normal development. This led Mahon and Levy (1986) to conclude that, unlike PKU, Hartnup disorder has no ill effects on the fetus. Normal ratios of amino acid concentrations between maternal and umbilical veins suggested that placental transport of free amino acids, unlike renal transport, is not reduced.
Nozaki et al. (2001) studied 2 Japanese families with first-cousin parents. The proband in the first family died of cirrhosis of the liver at the age of 42 years. Hartnup disorder was diagnosed on the basis of consistent patterns of monoamino-monocarboxylic aciduria and defects in the intestinal absorption of monoamino-monocarboxylic acids as determined by oral loading. He periodically had psychologic symptoms, ataxia, and diplopia. Niacin administration resolved these clinical symptoms. The patient was reported by Mori et al. (1989) as having no skin lesions. An older brother died at the age of 32 years of a progressive neurologic disease of unexplored pathogenesis. He was reported to have had mental retardation, periodic gait disturbances, and a skin rash on exposure to sunlight. A third son, younger than the other 2, had no health problems and was average scholastically in school. At age 33 years, large amounts of indican were found in his urine and he underwent oral amino acid loading showing decreased tryptophan absorption from the gut and suggesting that he was a Hartnup disorder carrier. In the second family, the proband had an eczematous skin rash at the age of 3 weeks and chronic diarrhea at the age of 3 months. Oral loading tests demonstrated impaired absorption from the gut, while the absorption of proline was intact. Liver biopsy showed extensive fatty liver without infiltration of inflammatory cells or fibrosis.
Biochemical Features
The defect in Hartnup disorder involves the intestinal and renal transport of certain neutral alpha-amino acids (Scriver, 1965). Seakins and Ersser (1967) described a patient in whom the intestinal transport defect was partially evident only under loading conditions. Lysine transport was impaired, whereas histidine transport was not. Studying uptake of amino acids by biopsied intestinal mucosa cells in vitro, Shih et al. (1971) found marked reduction in transport of methionine and tryptophan. Minimal reduction in transport of lysine and glycine correlated with the modest increases of these amino acids in the urine. Stool indoles and urinary indican were elevated after oral tryptophan loading. Occurrence of both Hartnup disease and methylmalonic aciduria in 2 families was considered coincidental (Shih et al., 1984).
Schmidtke et al. (1992) provided a detailed study of an affected girl who died in status epilepticus at age 2 years. The girl had a severe encephalopathy with an unusual pattern of cerebral gray and white matter pathology. Neurochemically there was evidence for impaired myelin formation. The authors considered whether this was a coincidence of a separate encephalopathy of unidentified type or an extreme form of the usually mild encephalopathy seen in the Hartnup syndrome. The child also had bisalbuminemia (103600) which was inherited from the mother.
Population Genetics
Hartnup disease was found to have about the same frequency in Massachusetts as phenylketonuria, i.e., 1 in 14,219 births (Levy et al., 1972).
Inheritance
Pomeroy et al. (1968) reported the first cases of affected persons (1 male, 1 female) who had children. In Colombia, Lopez et al. (1969) described 2 affected brothers whose parents were double second cousins. Two other deceased brothers were probably affected.
Heterogeneity
Genetic heterogeneity probably exists because cases have been described in which only the urinary characteristics of Hartnup disease were present, and there was no evidence of an intestinal transport defect (Srikantia et al., 1964).
Scriver et al. (1987) suggested that Hartnup disorder is multifactorial. They compared developmental outcomes and medical history of 21 Hartnup subjects, identified through newborn screening, with those of 19 control sibs. They found 2 tissue-specific forms of the Hartnup transport phenotype: renal and intestinal involvement in 15 families and renal involvement alone in 1 family. They concluded that whereas deficient activity of the Hartnup transport system was monogenic, the associated plasma amino acid value is polygenic. In general, they found no significant difference between means of the summed plasma values for amino acids affected by the Hartnup gene in the 2 groups. The 2 Hartnup subjects with clinical manifestations (impaired somatic growth and IQ in one, impaired growth and a 'pellagrin' episode in the other) had, however, the lowest summed plasma amino acid values in the Hartnup group. Furthermore, they found that the corresponding values for these patients' sibs were the low outliers in the control group. They concluded that there is a polygenic determination of amino acid values and that superimposed expression of the Hartnup gene increases liability for the disease.
Mapping
By homozygosity mapping, Nozaki et al. (2001) assigned the Hartnup disease locus to chromosome 5p15.
Seow et al. (2004) confirmed the assignment and narrowed the cytogenetic location to 5p15.33.
Molecular Genetics
Using homozygosity mapping and fine mapping in the consanguineous English family in which Hartnup disorder was originally discovered, Kleta et al. (2004) confirmed previous results showing linkage to 5p15. Two members of the SLC6 family of transporters mapped to the mouse chromosomal region that is homologous to human 5p15: SLC6A18 (610300) and SLC6A19. Both show abundant expression in mouse kidney, as assessed by real-time RT-PCR. Immunohistochemistry confirmed expression of mouse B(0)AT1 at the brush border of small intestine and kidney proximal tubule cells. As a primary candidate for the gene causing Hartnup disorder, the human homolog, SLC6A19, was sequenced in 6 families, with identification of 5 mutations in 4 families. In the family in which Hartnup disorder was first described, a homozygous splice site mutation, IVS8+2T-G (608893.0001), segregated with the disease phenotype.
In Australia, Seow et al. (2004) likewise identified the SLC6A19 gene as the site of mutations causing Hartnup disorder. They identified 6 mutations that cosegregated with the disease in the predicted recessive manner, with most affected individuals being compound heterozygotes. A common mutation, 517G-A (608893.0003), showed a population frequency of 0.007; the second most frequent mutant allele, 718C-T (608893.0004), had an estimated frequency of 0.001. An analogy was drawn to cystic fibrosis (219700) in relation to the distribution of the disorder: the 517G-A mutation is relatively frequent, and homozygosity was estimated to occur at a rate of approximately 1 in 20,000. This rate is consistent with the frequency of Hartnup disorder in European populations.
Animal Model
Symula et al. (1997) mapped hyperphenylalaninemia 2 (hph2), a recessive mutation in the mouse that causes deficient amino acid transport similar to Hartnup disease. The hph2 mouse locus was mapped in 3 separate crosses to identify candidate genes and a region of homology in the human genome where they proposed that the human disorder may map. The gene maps to mouse chromosome 7 close to a marker in the fibroblast growth factor-3 gene (164950) which in the human is located on 11q13. The mouse mutant was isolated after N-ethyl-N-nitrosourea (ENU) mutagenesis on the basis of delayed plasma clearance of an injected load of phenylalanine. Symula et al. (1997) found that animals homozygous for the mutation excrete elevated concentrations of many of the neutral amino acids in urine, while plasma concentrations of these amino acids are normal. In contrast, mutant homozygotes excrete normal levels of glucose and phosphorus. Symula et al. (1997) presented experiments indicating that the mouse disorder is a model for heart disease: the urine amino acid profiles were similar; in both species, there was a deficiency in brush-border amino acid transport; and both displayed a niacin-reversible syndrome influenced by diet and genetic background.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature (in some patients) HEAD & NECK Mouth \- Atrophic glossitis (rare) SKIN, NAILS, & HAIR Skin \- Light-sensitive dermatitis NEUROLOGIC Central Nervous System \- Intermittent cerebellar ataxia \- Seizures \- Hypertonia \- Delayed cognitive development Peripheral Nervous System \- Increased deep tendon reflexes Behavioral Psychiatric Manifestations \- Emotional instability \- Psychosis LABORATORY ABNORMALITIES \- Neutral hyperaminoaciduria MOLECULAR BASIS \- Caused by mutation in the system B(0) neutral amino acid transporter-1 gene (SLC6A19, 608893.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| HARTNUP DISORDER | c0018609 | 7,287 | omim | https://www.omim.org/entry/234500 | 2019-09-22T16:27:19 | {"doid": ["1060"], "mesh": ["D006250"], "omim": ["234500"], "icd-10": ["E72.02"], "orphanet": ["2116"], "synonyms": ["Alternative titles", "HARTNUP DISEASE"]} |
Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Ring chromosome 18 syndrome | c0265475 | 7,288 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1442 | 2021-01-23T17:10:25 | {"gard": ["6077"], "mesh": ["C538304"], "umls": ["C0265475", "C2931809"], "icd-10": ["Q93.2"], "synonyms": ["Ring 18", "Ring chromosome 18"]} |
Abnormal fatigue of unknown origin that persists for at least 6 months
This page does not refer to self-reported fatigue, fatigue caused by chronic fatigue syndrome or another medical condition.
Idiopathic Chronic Fatigue
Other namesICF, Asthenia[1]
SpecialtyFamily medicine, Internal medicine, Musculoskeletal
SymptomsChronic fatigue
Usual onsetAges 15-24, or over 60 years old[2]
DurationAt least six consecutive months
CausesUnknown
Risk factorsFemale gender
Diagnostic methodBased on symptoms, Diagnosis of exclusion
Differential diagnosisFatigue, chronic fatigue due to a known medical condition, post-viral fatigue, chronic fatigue syndrome, Occupational burnout
TreatmentSymptomatic
Frequency6.2 to 64.2 per 1000[3]
Idiopathic chronic fatigue (ICF), is characterized by unexplained fatigue that lasts at least six consecutive months.[2] It widely understood to have a profound effect on the lives of patients who experience it.[2]
ICF is a common illness of unknown origin,[1] and remains poorly understood.
## Contents
* 1 Classification
* 2 Diagnosis
* 2.1 Signs and symptoms
* 2.2 Exclusions
* 2.3 Common medical causes of fatigue
* 3 Management
* 3.1 Counseling
* 3.2 Medication
* 3.2.1 Anti-depressants
* 3.2.2 Alternative and complementary treatments
* 4 Prognosis
* 5 Epidemiology
* 6 See also
* 7 References
* 8 External links
## Classification[edit]
Idiopathic chronic fatigue is classified as a physical medical condition of unknown origin by the World Health Organization.[1][4]
## Diagnosis[edit]
ICF is fatigue of unknown origin, persisting or relapsing for a minimum of six consecutive months, and failing to meet the criteria for chronic fatigue syndrome. There is no agreed upon international criteria for idiopathic chronic fatigue however the CDC's 1994 Idiopathic Chronic Fatigue criteria, known as the Fukuda criteria, is commonly used.[2]
### Signs and symptoms[edit]
* Clinically evaluated fatigue
* New or definite onset (not lifelong)
* Not resulting from exertion
* Fatigue persists or is relapsing for six consecutive months or longer
* Fails to meet the criteria for chronic fatigue syndrome
* The cause is unknown[2][5]
### Exclusions[edit]
* Fatigue which begins within 2 years of a substance use disorder (addiction) or at any time after
* major depression with psychotic or melancholic features
* bipolar disorder
* schizophrenia or schizophrenia-related disorders
* delusional disorders
* the eating disorder bulimia nervosa
* dementia of any form
* chronic fatigue syndrome
* fatigue caused by an active medical condition
* fatigue caused by a previous medical condition that may not be fully resolved
* fatigue caused as a known side effect of medication
* severe obesity (a body mass index greater than 45)[2]
### Common medical causes of fatigue[edit]
These must be ruled out before a diagnosis of ICF can be made.
* Infectious diseases including viruses and TB
* Vascular diseases (affecting heart and circulation)
* Toxins and drug effects including poisons and substance use (addiction)
* Diseases affecting the lungs, including chronic obstructive pulmonary disease (COPD)
* Endocrine and metabolic problems, e.g., thyroid diseases and diabetes
* Diseases involving benign or cancerous tumours, including cancer fatigue
* Psychological or psychosocial conditions, including major depression
* Anaemia, Lupus and certain autoimmune or neurological diseases
* Occupational stress or other life stress and burnout
* Domestic violence[2]
## Management[edit]
Idiopathic chronic fatigue is typically managed in general medicine rather than by referral to a specialist. There is no cure, no approved drug, and treatment options are limited.[6] Management may involve a form of counseling, or antidepressant medication, although some patients may prefer herbal or alternative remedies.[2]
### Counseling[edit]
A form of counseling known as cognitive behavioral therapy may help some people manage or cope with idiopathic chronic fatigue.[2]
### Medication[edit]
There are no approved drugs for ICF.[6]
#### Anti-depressants[edit]
Antidepressants drugs such as tricyclic antidepressants (TCAs) or selective serotonin reuptake inhibitors (SSRIs) may be appropriate.[2]
#### Alternative and complementary treatments[edit]
Only limited trials had been conducted for alternative and complementary treatments; there is no clear evidence of these treatments being effective for ICF due to a lack of randomized controlled trials.[6]
## Prognosis[edit]
Over half of patients remain fatigued after one year.[2]
## Epidemiology[edit]
Fatigue is common in the general population and often caused by overwork, too much activity or a specific illness or disease. Around 20% of patients who visit their clinician report fatigue.[2] Prolonged fatigue is fatigue that persists for more than a month, and chronic fatigue is fatigue that lasts at least six consecutive months.[2]
Idiopathic chronic fatigue affects between 0.62% and 6.42% of patients, with females more likely to be affected than men.[2] Age at onset is typically between age 15 and 24, or over 60 years of age.[2] A significant number of patients present with idiopathic chronic fatigue as part of a mix of symptoms, while others present with a primary problem of fatigue alone.[2]
## See also[edit]
* Fatigue
* Occupational burnout
* Chronic fatigue
## References[edit]
1. ^ a b c "ICD-10 Version:2016 | R53". World Health Organization. Retrieved 2020-05-29.
2. ^ a b c d e f g h i j k l m n o p Saultz, J (2002-09-23). "Care of the Patient with Fatigue". In Taylor, Robert (ed.). Family Medicine: Principles and Practice. Springer Science & Business Media. pp. 465–469. ISBN 978-0-387-95400-4.
3. ^ Kim, Tae-Hun; Kim, Do-Hoon; Kang, Jung Won (2020-04-01). "Medicinal herbs for managing fatigue symptoms in patients with idiopathic chronic fatigue: A PRISMA compliant updated systematic review and meta-analysis of randomized controlled trials based on the GRADE approach". European Journal of Integrative Medicine. 35: 101069. doi:10.1016/j.eujim.2020.101069. ISSN 1876-3820.
4. ^ "ICD-11 - Mortality and Morbidity Statistics | MG22 Fatigue". World Health Organization. 2019. Retrieved 2020-05-31.
5. ^ Fukuda, K.; Straus, S. E.; Hickie, I.; Sharpe, M. C.; Dobbins, J. G.; Komaroff, A. (1994-12-15). "The chronic fatigue syndrome: a comprehensive approach to its definition and study. International Chronic Fatigue Syndrome Study Group". Annals of Internal Medicine. American College of Physicians. 121 (12): 954–957. doi:10.7326/0003-4819-121-12-199412150-00009. ISSN 0003-4819. PMID 7978722. S2CID 510735.
6. ^ a b c Adams, Denise; Wu, Taixiang; Yang, Xunzhe; Tai, Shusheng; Vohra, Sunita (2009). "Traditional Chinese medicinal herbs for the treatment of idiopathic chronic fatigue and chronic fatigue syndrome". Cochrane Database of Systematic Reviews (4): CD006348. doi:10.1002/14651858.CD006348.pub2. ISSN 1465-1858. PMID 19821361.
## External links[edit]
Classification
D
* ICD-11: MG22
* ICD-10: R53.82
* ICD-9-CM: 780.79
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Idiopathic chronic fatigue | None | 7,289 | wikipedia | https://en.wikipedia.org/wiki/Idiopathic_chronic_fatigue | 2021-01-18T19:07:59 | {"icd-10": ["R53"], "wikidata": ["Q96199399"]} |
Disease of lymph nodes
Lymphadenopathy
Other namesAdenopathy, swollen lymph nodes
A CT scan of axillary lymphadenopathy in a 57-year-old man with multiple myeloma.
SpecialtyInfectious disease
Lymphadenopathy or adenopathy is a disease of the lymph nodes, in which they are abnormal in size or consistency. Lymphadenopathy of an inflammatory type (the most common type) is lymphadenitis,[1] producing swollen or enlarged lymph nodes. In clinical practice, the distinction between lymphadenopathy and lymphadenitis is rarely made and the words are usually treated as synonymous. Inflammation of the lymphatic vessels is known as lymphangitis.[2] Infectious lymphadenitis affecting lymph nodes in the neck is often called scrofula.
Lymphadenopathy is a common and nonspecific sign. Common causes include infections (from minor ones such as the common cold to serious ones such as HIV/AIDS), autoimmune diseases, and cancers. Lymphadenopathy is also frequently idiopathic and self-limiting.
## Contents
* 1 Causes
* 1.1 Benign (reactive) lymphadenopathy
* 2 Diagnosis
* 2.1 Classification
* 2.1.1 Size
* 3 See also
* 4 References
* 5 External links
## Causes[edit]
Retroperitoneal lymphadenopathies of testicular seminoma, embrace the aorta. Computed tomography image.
Lymph node enlargement is recognized as a common sign of infectious, autoimmune, or malignant disease. Examples may include:
* Reactive: acute infection (e.g., bacterial, or viral), or chronic infections (tuberculous lymphadenitis,[3] cat-scratch disease[4]).
* The most distinctive sign of bubonic plague is extreme swelling of one or more lymph nodes that bulge out of the skin as "buboes." The buboes often become necrotic and may even rupture.[5]
* Infectious mononucleosis is an acute viral infection usually caused by Epstein-Barr virus and may be characterized by a marked enlargement of the cervical lymph nodes.[6]
* It is also a sign of cutaneous anthrax[7] and Human African trypanosomiasis[8]
* Toxoplasmosis, a parasitic disease, gives a generalized lymphadenopathy (Piringer-Kuchinka lymphadenopathy).[9]
* Plasma cell variant of Castleman's disease \- associated with HHV-8 infection and HIV infection[10][11]
* Mesenteric lymphadenitis after viral systemic infection (particularly in the GALT in the appendix) can commonly present like appendicitis.[12][13]
Less common infectious causes of lymphadenopathy may include bacterial infections such as cat scratch disease, tularemia, brucellosis, or prevotella.[citation needed]
* Tumoral:
* Primary: Hodgkin lymphoma[14] and non-Hodgkin lymphoma give lymphadenopathy in all or a few lymph nodes.[9]
* Secondary: metastasis, Virchow's Node, neuroblastoma,[15] and chronic lymphocytic leukemia.[16]
* Autoimmune: systemic lupus erythematosus[17] and rheumatoid arthritis may have a generalized lymphadenopathy.[9]
* Immunocompromised: AIDS. Generalized lymphadenopathy is an early sign of infection with human immunodeficiency virus (HIV), the virus that causes acquired immunodeficiency syndrome (AIDS).[18] "Lymphadenopathy syndrome" has been used to describe the first symptomatic stage of HIV progression, preceding a diagnosis of AIDS.
* Bites from certain venomous snakes such as the pit viper[19]
* Unknown: Kikuchi disease,[20] progressive transformation of germinal centers, sarcoidosis, hyaline-vascular variant of Castleman's disease, Rosai-Dorfman disease,[21] Kawasaki disease,[22] Kimura disease[23]
### Benign (reactive) lymphadenopathy[edit]
Benign lymphadenopathy is a common biopsy finding, and may often be confused with malignant lymphoma. It may be separated into major morphologic patterns, each with its own differential diagnosis with certain types of lymphoma. Most cases of reactive follicular hyperplasia are easy to diagnose, but some cases may be confused with follicular lymphoma. There are seven distinct patterns of benign lymphadenopathy:[6]
* Follicular hyperplasia: This is the most common type of reactive lymphadenopathy.[6]
* Paracortical hyperplasia/Interfollicular hyperplasia: It is seen in viral infections, skin diseases, and nonspecific reactions.
* Sinus histiocytosis: It is seen in lymph nodes draining limbs, inflammatory lesions, and malignancies.
* Nodal extensive necrosis
* Nodal granulomatous inflammation
* Nodal extensive fibrosis (Connective tissue framework)
* Nodal deposition of interstitial substance
These morphological patterns are never pure. Thus, reactive follicular hyperplasia can have a component of paracortical hyperplasia. However, this distinction is important for the differential diagnosis of the cause.
## Diagnosis[edit]
Medical ultrasonography of a typical normal lymph node: smooth, gently lobulated oval with a hypoechoic cortex measuring less than 3 cm in thickness with a central echogenic hilum.[24]
Ultrasonography of a suspected malignant lymph node:
\- Absence of the fatty hilum
\- Increased focal cortical thickness greater than 3 cm
\- Doppler ultrasonography that shows hyperaemic blood flow in the hilum and central cortex and/or abnormal (non-hilar cortical) blood flow.[24]
In cervical lymphadenopathy (of the neck), it is routine to perform a throat examination including the use of a mirror and an endoscope.[25]
On ultrasound, B-mode imaging depicts lymph node morphology, whilst power Doppler can assess the vascular pattern.[26] B-mode imaging features that can distinguish metastasis and lymphoma include size, shape, calcification, loss of hilar architecture, as well as intranodal necrosis.[26] Soft tissue edema and nodal matting on B-mode imaging suggests tuberculous cervical lymphadenitis or previous radiation therapy.[26] Serial monitoring of nodal size and vascularity are useful in assessing treatment response.[26]
Fine needle aspiration cytology (FNAC) has sensitivity and specificity percentages of 81% and 100%, respectively, in the histopathology of malignant cervical lymphadenopathy.[25] PET-CT has proven to be helpful in identifying occult primary carcinomas of the head and neck, especially when applied as a guiding tool prior to panendoscopy, and may induce treatment related clinical decisions in up to 60% of cases.[25]
### Classification[edit]
Lymphadenopathy may be classified by:
* Size, where lymphadenopathy in adults is often defined as a short axis of one or more lymph nodes is greater than 10mm.[27]
* By extent:
* Localized lymphadenopathy: due to localized spot of infection e.g., an infected spot on the scalp will cause lymph nodes in the neck on that same side to swell up
* Generalized lymphadenopathy: due to a systemic infection of the body e.g., influenza or secondary syphilis
* Persistent generalized lymphadenopathy (PGL): persisting for a long time, possibly without an apparent cause
* By localization:
* Hilar lymphadenopathy.
* Mediastinal lymphadenopathy
* Bilateral hilar lymphadenopathy
* Dermatopathic lymphadenopathy: lymphadenopathy associated with skin disease.
* By malignancy: Benign lymphadenopathy is distinguished from malignant types which mainly refer to lymphomas or lymph node metastasis.
#### Size[edit]
Micrograph of dermatopathic lymphadenopathy, a type of lymphadenopathy. H&E stain.
* By size, where lymphadenopathy in adults is often defined as a short axis of one or more lymph nodes is greater than 10mm.[27][28] However, there is regional variation as detailed in this table:
Upper limit of lymph node sizes in adults Generally 10 mm[27][28]
Inguinal 10[29] – 20 mm[30]
Pelvis 10 mm for ovoid lymph nodes, 8 mm for rounded[29]
Neck
Generally (non-retropharyngeal) 10 mm[29][31]
Jugulodigastric lymph nodes 11mm[29] or 15 mm[31]
Retropharyngeal 8 mm[31]
* Lateral retropharyngeal: 5 mm[29]
Mediastinum
Mediastinum, generally 10 mm[29]
Superior mediastinum and high paratracheal 7mm[32]
Low paratracheal and subcarinal 11 mm[32]
Upper abdominal
Retrocrural space 6 mm[33]
Paracardiac 8 mm[33]
Gastrohepatic ligament 8 mm[33]
Upper paraaortic region 9 mm[33]
Portacaval space 10 mm[33]
Porta hepatis 7 mm[33]
Lower paraaortic region 11 mm[33]
Lymphadenopathy of the axillary lymph nodes can be defined as solid nodes measuring more than 15 mm without fatty hilum.[34] Axillary lymph nodes may be normal up to 30 mm if consisting largely of fat.[34]
In children, a short axis of 8 mm can be used.[35] However, inguinal lymph nodes of up to 15 mm and cervical lymph nodes of up to 20 mm are generally normal in children up to age 8–12.[36]
Lymphadenopathy of more than 1.5–2 cm increases the risk of cancer or granulomatous disease as the cause rather than only inflammation or infection. Still, an increasing size and persistence over time are more indicative of cancer.[37]
## See also[edit]
* Adenitis
* Lymphovascular invasion
## References[edit]
1. ^ "lymphadenitis" at Dorland's Medical Dictionary
2. ^ "lymphangitis" at Dorland's Medical Dictionary
3. ^ Fontanilla, JM; Barnes, A; Von Reyn, CF (September 2011). "Current diagnosis and management of peripheral tuberculous lymphadenitis". Clinical Infectious Diseases. 53 (6): 555–562. doi:10.1093/cid/cir454. PMID 21865192.
4. ^ Klotz, SA; Ianas, V; Elliott, SP (2011). "Cat-scratch Disease". American Family Physician. 83 (2): 152–155. PMID 21243990.
5. ^ Butler, T (2009). "Plague into the 21st century". Clinical Infectious Diseases. 49 (5): 736–742. doi:10.1086/604718. PMID 19606935.
6. ^ a b c Weiss, LM; O'Malley, D (2013). "Benign lymphadenopathies". Modern Pathology. 26 (Supplement 1): S88–S96. doi:10.1038/modpathol.2012.176. PMID 23281438.
7. ^ Sweeney, DA; Hicks, CW; Cui, X; Li, Y; Eichacker, PQ (December 2011). "Anthrax infection". American Journal of Respiratory and Critical Care Medicine. 184 (12): 1333–1341. doi:10.1164/rccm.201102-0209CI. PMC 3361358. PMID 21852539.
8. ^ Kennedy, PG (February 2013). "Clinical features, diagnosis, and treatment of human African trypanosomiasis (sleeping sickness)". Lancet Neurology. 12 (2): 186–194. doi:10.1016/S1474-4422(12)70296-X. PMID 23260189. S2CID 8688394.
9. ^ a b c Status and anamnesis, Anders Albinsson. Page 12
10. ^ Kim, TU; Kim, S; Lee, JW; Lee, NK; Jeon, UB; Ha, HG; Shin, DH (September–October 2012). "Plasma cell type of Castleman's disease involving renal parenchyma and sinus with cardiac tamponade: case report and literature review". Korean Journal of Radiology. 13 (5): 658–663. doi:10.3348/kjr.2012.13.5.658. PMC 3435867. PMID 22977337.
11. ^ Zhang, H; Wang, R; Wang, H; Xu, Y; Chen, J (June 2012). "Membranoproliferative glomerulonephritis in Castleman's disease: a systematic review of the literature and 2 case reports". Internal Medicine (Tokyo, Japan). 51 (12): 1537–1542. doi:10.2169/internalmedicine.51.6298. PMID 22728487.
12. ^ Bratucu, E; Lazar, A; Marincaş, M; Daha, C; Zurac, S (March–April 2013). "Aseptic mesenteric lymph node abscesses. In search of an answer. A new entity?" (PDF). Chirurgia (Bucarest, Romania: 1990). 108 (2): 152–160. PMID 23618562.
13. ^ Leung, A; Sigalet, DL (June 2003). "Acute Abdominal Pain in Children". American Family Physician. 67 (11): 2321–2327. PMID 12800960.
14. ^ Glass, C (September 2008). "Role of the Primary Care Physician in Hodgkin Lymphoma". American Family Physician. 78 (5): 615–622. PMID 18788239.
15. ^ Colon, NC; Chung, DH (2011). "Neuroblastoma". Advances in Pediatrics. 58 (1): 297–311. doi:10.1016/j.yapd.2011.03.011. PMC 3668791. PMID 21736987.
16. ^ Sagatys, EM; Zhang, L (January 2011). "Clinical and laboratory prognostic indicators in chronic lymphocytic leukemia". Cancer Control. 19 (1): 18–25. doi:10.1177/107327481201900103. PMID 22143059.
17. ^ Melikoglu, MA; Melikoglu, M (October–December 2008). "The clinical importance of lymphadenopathy in systemic lupus erythematosus" (PDF). Acta Reumatologia Portuguesa. 33 (4): 402–406. PMID 19107085.
18. ^ Lederman, MM; Margolis, L (June 2008). "The lymph node in HIV pathogenesis". Seminars in Immunology. 20 (3): 187–195. doi:10.1016/j.smim.2008.06.001. PMC 2577760. PMID 18620868.
19. ^ Quan, D (October 2012). "North American poisonous bites and stings". Critical Care Clinics. 28 (4): 633–659. doi:10.1016/j.ccc.2012.07.010. PMID 22998994.
20. ^ Komagamine, T; Nagashima, T; Kojima, M; Kokubun, N; Nakamura, T; Hashimoto, K; Kimoto, K; Hirata, K (September 2012). "Recurrent aseptic meningitis in association with Kikuchi-Fujimoto disease: case report and literature review". BMC Neurology. 12: 187–195. doi:10.1186/1471-2377-12-112. PMC 3570427. PMID 23020225.
21. ^ Noguchi, S; Yatera, K; Shimajiri, S; Inoue, N; Nagata, S; Nishida, C; Kawanami, T; Ishimoto, H; Sasaguri, Y; Mukae, H (2012). "Intrathoracic Rosai-Dorfman disease with spontaneous remission: a clinical report and a review of the literature". The Tohoku Journal of Experimental Medicine. 227 (3): 231–235. doi:10.1620/tjem.227.231. PMID 22789970.
22. ^ Weiss, PF (April 2012). "Pediatric vasculitis". Pediatric Clinics of North America. 59 (2): 407–423. doi:10.1016/j.pcl.2012.03.013. PMC 3348547. PMID 22560577.
23. ^ Koh, H; Kamiishi, N; Chiyotani, A; Takahashi, H; Sudo, A; Masuda, Y; Shinden, S; Tajima, A; Kimura, Y; Kimura, T (April 2012). "Eosinophilic lung disease complicated by Kimura's disease: a case report and literature review". Internal Medicine (Tokyo, Japan). 51 (22): 3163–3167. doi:10.2169/internalmedicine.51.8600. PMID 23154725.
24. ^ a b Dialani, V.; James, D. F.; Slanetz, P. J. (2014). "A practical approach to imaging the axilla". Insights into Imaging. 6 (2): 217–229. doi:10.1007/s13244-014-0367-8. ISSN 1869-4101. PMC 4376818. PMID 25534139. Creative Commons attribution license
25. ^ a b c Balm, A. J. M.; van Velthuysen, M. L. F.; Hoebers, F. J. P.; Vogel, W. V.; van den Brekel, M. W. M. (2010). "Diagnosis and Treatment of a Neck Node Swelling Suspicious for a Malignancy: An Algorithmic Approach". International Journal of Surgical Oncology. 2010: 1–8. doi:10.1155/2010/581540. ISSN 2090-1402. PMC 3265261. PMID 22312490.
26. ^ a b c d Ahuja, A.T. (2008). "Ultrasound of malignant cervical lymph nodes". Cancer Imaging. 8 (1): 48–56. doi:10.1102/1470-7330.2008.0006. ISSN 1470-7330. PMC 2324368. PMID 18390388.
27. ^ a b c Ganeshalingam, Skandadas; Koh, Dow-Mu (2009). "Nodal staging". Cancer Imaging. 9 (1): 104–111. doi:10.1102/1470-7330.2009.0017. ISSN 1470-7330. PMC 2821588. PMID 20080453.
28. ^ a b Schmidt Júnior, Aurelino Fernandes; Rodrigues, Olavo Ribeiro; Matheus, Roberto Storte; Kim, Jorge Du Ub; Jatene, Fábio Biscegli (2007). "Distribuição, tamanho e número dos linfonodos mediastinais: definições por meio de estudo anatômico". Jornal Brasileiro de Pneumologia. 33 (2): 134–140. doi:10.1590/S1806-37132007000200006. ISSN 1806-3713. PMID 17724531.
29. ^ a b c d e f Torabi M, Aquino SL, Harisinghani MG (September 2004). "Current concepts in lymph node imaging". Journal of Nuclear Medicine. 45 (9): 1509–18. PMID 15347718.
30. ^ "Assessment of lymphadenopathy". BMJ Best Practice. Retrieved 2017-03-04. Last updated: Last updated: Feb 16, 2017
31. ^ a b c Page 432 in: Luca Saba (2016). Image Principles, Neck, and the Brain. CRC Press. ISBN 9781482216202.
32. ^ a b Sharma, Amita; Fidias, Panos; Hayman, L. Anne; Loomis, Susanne L.; Taber, Katherine H.; Aquino, Suzanne L. (2004). "Patterns of Lymphadenopathy in Thoracic Malignancies". RadioGraphics. 24 (2): 419–434. doi:10.1148/rg.242035075. ISSN 0271-5333. PMID 15026591. S2CID 7434544.
33. ^ a b c d e f g Dorfman, R E; Alpern, M B; Gross, B H; Sandler, M A (1991). "Upper abdominal lymph nodes: criteria for normal size determined with CT". Radiology. 180 (2): 319–322. doi:10.1148/radiology.180.2.2068292. ISSN 0033-8419. PMID 2068292.
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37. ^ Bazemore AW, Smucker DR (December 2002). "Lymphadenopathy and malignancy". American Family Physician. 66 (11): 2103–10. PMID 12484692.
## External links[edit]
* HPC:13820 on humpath.com (Digital slides)
Classification
D
* ICD-10: I88, L04, R59.1
* ICD-9-CM: 289.1-289.3, 683, 785.6
* MeSH: D008206
* DiseasesDB: 22225
External resources
* MedlinePlus: 001301
* eMedicine: ped/1333
* v
* t
* e
Bacterial skin disease
Gram +ve
Firmicutes
* Staphylococcus
* Staphylococcal scalded skin syndrome
* Impetigo
* Toxic shock syndrome
* Streptococcus
* Impetigo
* Cutaneous group B streptococcal infection
* Streptococcal intertrigo
* Cutaneous Streptococcus iniae infection
* Erysipelas / Chronic recurrent erysipelas
* Scarlet fever
* Corynebacterium
* Erythrasma
* Listeriosis
* Clostridium
* Gas gangrene
* Dermatitis gangrenosa
* Mycoplasma
* Erysipeloid of Rosenbach
Actinobacteria
* Mycobacterium-related: Aquarium granuloma
* Borderline lepromatous leprosy
* Borderline leprosy
* Borderline tuberculoid leprosy
* Buruli ulcer
* Erythema induratum
* Histoid leprosy
* Lepromatous leprosy
* Leprosy
* Lichen scrofulosorum
* Lupus vulgaris
* Miliary tuberculosis
* Mycobacterium avium-intracellulare complex infection
* Mycobacterium haemophilum infection
* Mycobacterium kansasii infection
* Papulonecrotic tuberculid
* Primary inoculation tuberculosis
* Rapid growing mycobacterium infection
* Scrofuloderma
* Tuberculosis cutis orificialis
* Tuberculosis verrucosa cutis
* Tuberculous cellulitis
* Tuberculous gumma
* Tuberculoid leprosy
* Cutaneous actinomycosis
* Nocardiosis
* Cutaneous diphtheria infection
* Arcanobacterium haemolyticum infection
* Group JK corynebacterium sepsis
Gram -ve
Proteobacteria
* α: Endemic typhus
* Epidemic typhus
* Scrub typhus
* North Asian tick typhus
* Queensland tick typhus
* Flying squirrel typhus
* Trench fever
* Bacillary angiomatosis
* African tick bite fever
* American tick bite fever
* Rickettsia aeschlimannii infection
* Rickettsialpox
* Rocky Mountain spotted fever
* Human granulocytotropic anaplasmosis
* Human monocytotropic ehrlichiosis
* Flea-borne spotted fever
* Japanese spotted fever
* Mediterranean spotted fever
* Flinders Island spotted fever
* Verruga peruana
* Brill–Zinsser disease
* Brucellosis
* Cat-scratch disease
* Oroya fever
* Ehrlichiosis ewingii infection
* β: Gonococcemia/Gonorrhea/Primary gonococcal dermatitis
* Melioidosis
* Cutaneous Pasteurella hemolytica infection
* Meningococcemia
* Glanders
* Chromobacteriosis infection
* γ: Pasteurellosis
* Tularemia
* Vibrio vulnificus
* Rhinoscleroma
* Haemophilus influenzae cellulitis
* Pseudomonal pyoderma / Pseudomonas hot-foot syndrome / Hot tub folliculitis / Ecthyma gangrenosum / Green nail syndrome
* Q fever
* Salmonellosis
* Shigellosis
* Plague
* Granuloma inguinale
* Chancroid
* Aeromonas infection
* ε: Helicobacter cellulitis
Other
* Syphilid
* Syphilis
* Chancre
* Yaws
* Pinta
* Bejel
* Chlamydia infection
* Leptospirosis
* Rat-bite fever
* Lyme disease
* Lymphogranuloma venereum
Unspecified
pathogen
* Abscess
* Periapical abscess
* Boil/furuncle
* Hospital furunculosis
* Carbuncle
* Cellulitis
* Paronychia / Pyogenic paronychia
* Perianal cellulitis
* Acute lymphadenitis
* Pilonidal cyst
* Pyoderma
* Folliculitis
* Superficial pustular folliculitis
* Sycosis vulgaris
* Pimple
* Ecthyma
* Pitted keratolysis
* Trichomycosis axillaris
* Necrotizing fascitis
* Gangrene
* Chronic undermining burrowing ulcers
* Fournier gangrene
* Elephantiasis nostras
* Blistering distal dactylitis
* Botryomycosis
* Malakoplakia
* Gram-negative folliculitis
* Gram-negative toe web infection
* Pyomyositis
* Blastomycosis-like pyoderma
* Bullous impetigo
* Chronic lymphangitis
* Recurrent toxin-mediated perineal erythema
* Tick-borne lymphadenopathy
* Tropical ulcer
* v
* t
* e
Lymphatic disease: organ and vessel diseases
Thymus
* Abscess
* Hyperplasia
* Hypoplasia
* DiGeorge syndrome
* Ectopic thymus
* Thymoma
* Thymic carcinoma
Spleen
* Asplenia
* Asplenia with cardiovascular anomalies
* Accessory spleen
* Polysplenia
* Wandering spleen
* Splenomegaly
* Banti's syndrome
* Splenic infarction
* Splenic tumor
Lymph node
* Lymphadenopathy
* Generalized lymphadenopathy
* Castleman's disease
* Intranodal palisaded myofibroblastoma
* Kikuchi disease
* Tonsils
* see Template:Respiratory pathology
Lymphatic vessels
* Lymphangitis
* Lymphangiectasia
* Lymphedema
* Primary lymphedema
* Congenital lymphedema
* Lymphedema praecox
* Lymphedema tarda
* Lymphedema–distichiasis syndrome
* Milroy's disease
* Secondary lymphedema
* Bullous lymphedema
* Factitial lymphedema
* Postinflammatory lymphedema
* Postmastectomy lymphangiosarcoma
* Waldmann disease
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Lymphadenopathy | c0497156 | 7,290 | wikipedia | https://en.wikipedia.org/wiki/Lymphadenopathy | 2021-01-18T18:32:46 | {"mesh": ["D000072281"], "umls": ["C0497156"], "icd-9": ["785.6", "289.3", "289.1", "683"], "icd-10": ["L04", "I88", "R59.1"], "wikidata": ["Q847726"]} |
Dopamine beta (β)-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia).
Individuals with dopamine β-hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. This sudden drop in blood pressure is usually more severe when getting out of bed in the morning, during hot weather, and as a person gets older. People with dopamine β-hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure.
Other features of dopamine β-hydroxylase deficiency include droopy eyelids (ptosis), nasal congestion, and an inability to stand for a prolonged period of time. Affected males may also experience retrograde ejaculation, a discharge of semen backwards into the bladder. Less common features include an unusually large range of joint movement (hypermobility) and muscle weakness.
## Frequency
Dopamine β-hydroxylase deficiency is a very rare disorder. Fewer than 20 affected individuals, all of Western European descent, have been described in the scientific literature.
## Causes
Mutations in the DBH gene cause dopamine β-hydroxylase deficiency. The DBH gene provides instructions for producing the enzyme dopamine β-hydroxylase. This enzyme converts dopamine to norepinephrine, both of which are chemical messengers (neurotransmitters) that transmit signals between nerve cells.
DBH gene mutations result in the production of a nonfunctional dopamine β-hydroxylase enzyme. People who lack functional dopamine β-hydroxylase cannot convert dopamine to norepinephrine, which leads to a shortage of norepinephrine in the body. The lack of norepinephrine causes difficulty with regulating blood pressure and other autonomic nervous system problems seen in dopamine β-hydroxylase deficiency.
### Learn more about the gene associated with Dopamine beta-hydroxylase deficiency
* DBH
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Dopamine beta-hydroxylase deficiency | c0342687 | 7,291 | medlineplus | https://medlineplus.gov/genetics/condition/dopamine-beta-hydroxylase-deficiency/ | 2021-01-27T08:24:50 | {"gard": ["1903"], "mesh": ["C535600"], "omim": ["223360"], "synonyms": []} |
Progressive familial heart block is a genetic condition that alters the normal beating of the heart. A normal heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. These signals begin in a specialized cluster of cells called the sinoatrial node (the heart's natural pacemaker) located in the heart's upper chambers (the atria). From there, a group of cells called the atrioventricular node carries the electrical signals to another cluster of cells called the bundle of His. This bundle separates into multiple thin spindles called bundle branches, which carry electrical signals into the heart's lower chambers (the ventricles). Electrical impulses move from the sinoatrial node down to the bundle branches, stimulating a normal heartbeat in which the ventricles contract slightly later than the atria.
Heart block occurs when the electrical signaling is obstructed anywhere from the atria to the ventricles. In people with progressive familial heart block, the condition worsens over time: early in the disorder, the electrical signals are partially blocked, but the block eventually becomes complete, preventing any signals from passing through the heart. Partial heart block causes a slow or irregular heartbeat (bradycardia or arrhythmia, respectively), and can lead to the buildup of scar tissue (fibrosis) in the cells that carry electrical impulses. Fibrosis contributes to the development of complete heart block, resulting in uncoordinated electrical signaling between the atria and the ventricles and inefficient pumping of blood in the heart. Complete heart block can cause a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, fainting (syncope), or sudden cardiac arrest and death.
Progressive familial heart block can be divided into type I and type II, with type I being further divided into types IA and IB. These types differ in where in the heart signaling is interrupted and the genetic cause. In types IA and IB, the heart block originates in the bundle branch, and in type II, the heart block originates in the atrioventricular node. The different types of progressive familial heart block have similar signs and symptoms.
Most cases of heart block are not genetic and are not considered progressive familial heart block. The most common cause of heart block is fibrosis of the heart, which occurs as a normal process of aging. Other causes of heart block can include the use of certain medications or an infection of the heart tissue.
## Frequency
The prevalence of progressive familial heart block is unknown. In the United States, about 1 in 5,000 individuals have complete heart block from any cause; worldwide, about 1 in 2,500 individuals have complete heart block.
## Causes
Mutations in the SCN5A and TRPM4 genes cause most cases of progressive familial heart block types IA and IB, respectively. The proteins produced from these genes are channels that allow positively charged atoms (cations) into and out of cells. Both channels are abundant in heart (cardiac) cells and play key roles in these cells' ability to generate and transmit electrical signals. These channels play a major role in signaling the start of each heartbeat, coordinating the contractions of the atria and ventricles, and maintaining a normal heart rhythm.
The SCN5A and TRPM4 gene mutations that cause progressive familial heart block alter the normal function of the channels. As a result of these channel alterations, cardiac cells have difficulty producing and transmitting the electrical signals that are necessary to coordinate normal heartbeats, leading to heart block. Death of these impaired cardiac cells over time can lead to fibrosis, worsening the heart block.
Mutations in other genes, some of which are unknown, account for the remaining cases of progressive familial heart block.
### Learn more about the genes associated with Progressive familial heart block
* SCN5A
* TRPM4
Additional Information from NCBI Gene:
* GJA5
* SCN1B
## Inheritance Pattern
Progressive familial heart block types I and II are inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Some people with TRPM4 gene mutations never develop the condition, a situation known as reduced penetrance.
In most cases, an affected person has one parent with progressive familial heart block.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Progressive familial heart block | c1861984 | 7,292 | medlineplus | https://medlineplus.gov/genetics/condition/progressive-familial-heart-block/ | 2021-01-27T08:25:25 | {"gard": ["10005"], "mesh": ["C566186"], "omim": ["113900", "604559", "140400"], "synonyms": []} |
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255).
Mapping
To identify genetic variants influencing adult human height, Weedon et al. (2008) used genomewide association data from 13,665 individuals and genotyped 39 variants in an additional 16,482 samples. They identified association with a SNP in the LCORL gene (611799), rs16896068 (overall P = 2.4 x 10(-13)). In all, Weedon et al. (2008) identified 20 variants associated with adult height (p less than 5 x 10(-7), with 10 reaching p less than 1 x 10(-10)). Combined, the 20 SNPs explain approximately 3% of height variation, with an approximately 5 cm difference between the 6.2% of people with 17 or fewer 'tall' alleles compared to the 5.5% with 27 or more 'tall' alleles. Each of the robustly associated variants identified in the study altered height by between approximately 0.2 and 0.6 centimeters per allele.
Gudbjartsson et al. (2008) searched for sequence variants that affect height by scanning the genomes of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans, and 1,148 African Americans. The authors then combined their data with previously published results from the Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes for BioMedical Research (2007) on 3,024 Scandinavians and tested a selected subset of SNPs in 5,517 Danes. Two SNPs in the LCORL gene, rs6830062 and rs6842303, achieved P values of 1.3 x 10(-10) and 4.2 x 10(-9), respectively. Gudbjartsson et al. (2008) identified 27 regions of the genome with 1 or more sequence variants showing significant association with height.
To identify loci associated with stature, Soranzo et al. (2009) performed a genomewide scan in 12,611 participants followed by replication in an additional 7,187 individuals. All participants were of British or Dutch descent. Soranzo et al. (2009) confirmed association of the 4p15.3 region, with the SNP rs6830062 achieving a combined P of 4.9 x 10(-9).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| STATURE QUANTITATIVE TRAIT LOCUS 13 | c2677131 | 7,293 | omim | https://www.omim.org/entry/612226 | 2019-09-22T16:02:13 | {"omim": ["612226"]} |
Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. Hyperlysinemia is caused by mutations in the AASS gene. It has an autosomal recessive pattern of inheritance.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Hyperlysinemia | c0936256 | 7,294 | gard | https://rarediseases.info.nih.gov/diseases/2828/hyperlysinemia | 2021-01-18T17:59:54 | {"mesh": ["D020167"], "omim": ["238700"], "orphanet": ["2203"], "synonyms": ["Lysine alpha-ketoglutarate reductase deficiency", "Alpha-aminoadipic semialdehyde synthase deficiency", "L-lysine NAD-oxido-reductase deficiency", "Lysine intolerance"]} |
A number sign (#) is used with this entry because of evidence that autosomal recessive congenital ichthyosis-10 (ARCI10) is caused by homozygous or compound heterozygous mutation in the PNPLA1 gene (612121) on chromosome 6p21.
Description
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010).
NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).
In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).
For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).
Clinical Features
Grall et al. (2012) studied 6 affected individuals from 2 families segregating autosomal recessive congenital ichthyosis-10. All were born as collodion babies and later developed generalized ichthyosis, with mild to moderate fine grayish-white scales and moderate erythroderma and palmoplantar keratoderma. Histopathology of affected skin presented a thicker cornified layer, pronounced desquamation of upper loosely packed scales, and hypergranulosis with increased amounts of keratohyalin. Conspicuous regularly spaced small holes were visible in the granular layer. Electron microscopy showed more than 40 layers of cornified lamellae, consisting partly of loose content but otherwise mostly homogeneous, with some lipid droplets, membrane structures, and increased amounts of melanosomal remnants but only a few remnants of cholesterol crystals. In the transition to the living epidermal layers, there were many transit cells and numerous vesicular structures within the cells of the granular layer, corresponding to the holes observed by light microscopy.
Fachal et al. (2014) reported 3 members of a consanguineous Galician family (family 13) with ARCI10. The proband was a 39-year-old woman who was born as a collodion baby. Her skin had generalized small white scales, with underlying erythroderma and palmoplantar hyperlinearity but without keratoderma. Her nails were not affected. She had mild facial lesions and thick adherent scales on the scalp, but no eclabium, ectropion, or alopecia. The patient complained of severe heat intolerance. She had 2 affected brothers.
Ahmad et al. (2016) reported 3 consanguineous Pakistani families segregating ARCI10. Affected members shared the common characteristic features of generalized fine, dry, dark brown scaling of the body with abnormal sweating and hyperthermia. They had mild erythroderma and hyperkeratosis. Ectropion, eclabium, and alopecia were not observed.
Boyden et al. (2017) reported 14 families with ARCI10. The phenotypes were highly variable, even among patients with the same PNPLA1 mutations. Seven of 19 patients presented with a collodion membrane at birth, and 8 showed generalized erythema and scaling. Mature phenotypes included a fine or plate-lake scale, and erythema ranged from minimal to severe. The presence and degree of ectropion and palmoplantar keratoderma were variable but were absent or mild in most patients.
Molecular Genetics
From a cohort of 46 consanguineous ARCI families that had undergone genomewide linkage analysis and in which no causative mutation had been found in genes known to have a role in ARCI, Grall et al. (2012) selected 10 families in which affected individuals showed a homozygous haplotype in the 6p21 region containing the candidate gene PNPLA1. Sequencing identified 2 distinct PNPLA1 mutations in 2 of the families: 3 affected sibs from an Algerian family were homozygous for a nonsense mutation (E131X; 612121.0001), and 3 affected children from a Moroccan family were homozygous for a missense mutation (A59V; 612121.0002). The mutations segregated with disease in each family and were not found in a panel of 384 control DNA samples.
In affected members of a Galician family (family 13) with ARCI, Fachal et al. (2014) identified homozygosity for a missense mutation (A34T; 612121.0003) in the PNPLA1 gene. The mutation was found by sequencing of the PNPLA1 gene after mutation in 5 other candidate genes had been excluded. The mutation segregated with the disorder in the family.
By exome and Sanger sequencing in 3 consanguineous families segregating ARCI linked to chromosome 6p22-p21, Ahmad et al. (2016) identified homozygosity for a missense mutation (D34E; 612121.0004) in the PNPLA1 gene. The mutation segregated with the phenotype in each family and was not found in the ExAC database, in 94 unrelated Pakistani control samples, or in 215 in-house exome sequences from unrelated Pakistani control individuals.
Using multiplex targeted next-generation sequencing of 42 genes known to cause disorders of keratinization or whole-exome sequencing in 732 kindreds with ichthyosis, Boyden et al. (2017) identified 14 unrelated probands who were compound heterozygous or homozygous for mutations in the PNPLA1 gene. The mutations segregated with disease in all of the kindreds, of which 5 were consanguineous. Affected members of 2 families with presumably autosomal dominant inheritance, one of which was previously reported by Toribio et al. (1986) as having autosomal dominant inheritance, were found to have compound heterozygous or homozygous mutations in the PNPLA1 gene (see 612121.0003 and 612121.0005-612121.0006). A total of 16 different PNPLA1 mutations were found, including 2 that result in early termination, 1 splice-site mutation, and 13 missense substitutions at conserved residues. All missense mutations were within the more highly conserved N-terminal portion of the protein, and all but 2 were within the patatin domain. Two of the missense mutations were distal to the patatin domain, suggesting that residues outside the canonical enzymatic region may be important to protein function.
Animal Model
In golden retriever dogs with hereditary nonepidermolytic retention ichthyosis, Grall et al. (2012) identified homozygosity for a truncating mutation within the highly conserved C-terminal region of PNPLA1. Histopathology showed compact orthokeratotic epidermal hyperkeratosis composed of many layers of completely keratinized epidermal cells and pronounced acanthosis in the epidermis. Cytoplasmic vacuolic structures were visible on semi-thin sections in keratinocytes from the subgranular layers. Ultrastructural analysis showed regular groups of electron-lucent polyclonal clefts within lamellae of the cornified layer, corresponding to remnants of cholesterol crystals. In keratinocytes of the granular layer, irregular accumulations of abnormal membranous and vesicular material were seen, suggesting a degenerative process of intracellular membrane trafficking. These areas corresponded to the perinuclear vacuolic regions observed with hematoxylin-eosin staining.
INHERITANCE \- Autosomal recessive SKIN, NAILS, & HAIR Skin \- Collodion membrane at birth \- Ichthyosis, generalized, including flexures \- Fine greyish-white scales \- Moderate erythroderma \- Palmoplantar keratoderma \- Squamous pityriasiform appearance of scalp Skin Histology \- Thick cornified layer \- Marked desquamation of upper loosely packed scales \- Hypergranulosis \- Increased amounts of keratohyalin \- Regularly spaced holes in granular layer Electron Microscopy \- More than 40 layers of cornified lamellae \- Numerous vesicular structures within granular layer cells MOLECULAR BASIS \- Caused by mutation in the patatin-like phospholipase domain-containing protein 1 gene (PNPLA1, 612121.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 | c0079154 | 7,295 | omim | https://www.omim.org/entry/615024 | 2019-09-22T15:53:27 | {"doid": ["0060719"], "mesh": ["D017490"], "omim": ["615024"], "orphanet": ["79394"]} |
Most common type of primary brain cancer in children
Medulloblastoma
CT scan, showing a tumorous mass in the posterior fossa, giving rise to obstructive hydrocephalus, in a six-year-old girl
Pronunciation
* /məˌdʌloʊblæˈstoʊmə/
SpecialtyOncology, neurosurgery
Medulloblastoma is the most common type of primary brain cancer in children. It originates in the part of the brain that is towards the back and the bottom, on the floor of the skull, in the cerebellum, or posterior fossa.[1]
The brain is divided into two main parts, the larger cerebrum on top and the smaller cerebellum below towards the back. They are separated by a membrane called the tentorium. Tumors that originate in the cerebellum or the surrounding region below the tentorium are, therefore, called infratentorial.
Historically medulloblastomas have been classified as a primitive neuroectodermal tumor (PNET), but it is now known that medulloblastoma is distinct from supratentorial PNETs and they are no longer considered similar entities.[2]
Medulloblastomas are invasive, rapidly growing tumors that, unlike most brain tumors, spread through the cerebrospinal fluid and frequently metastasize to different locations along the surface of the brain and spinal cord. Metastasis all the way down to the cauda equina at the base of the spinal cord is termed "drop metastasis".
The cumulative relative survival rate for all age groups and histology follow-up was 60%, 52%, and 47% at 5 years, 10 years, and 20 years, respectively, with children doing better than adults.[3]
## Contents
* 1 Signs and symptoms
* 2 Pathogenesis
* 3 Diagnosis
* 4 Treatment
* 4.1 Chemotherapy
* 5 Outcomes
* 5.1 Survival
* 6 Epidemiology
* 7 Research models
* 8 References
* 9 External links
## Signs and symptoms[edit]
Signs and symptoms are mainly due to secondary increased intracranial pressure due to blockage of the fourth ventricle and tumors are usually present for 1 to 5 months before diagnosis is made. The child typically becomes listless, with repeated episodes of vomiting, and a morning headache, which may lead to a misdiagnosis of gastrointestinal disease or migraine.[4] Soon after, the child will develop a stumbling gait, truncal ataxia, frequent falls, diplopia, papilledema, and sixth cranial nerve palsy. Positional dizziness and nystagmus are also frequent, and facial sensory loss or motor weakness may be present. Decerebrate attacks appear late in the disease.
Extraneural metastasis to the rest of the body is rare, and when it occurs, it is in the setting of relapse, more commonly in the era prior to routine chemotherapy.
## Pathogenesis[edit]
Medulloblastomas usually found in the vicinity of the fourth ventricle, between the brainstem and the cerebellum. Tumors with similar appearance and characteristics originate in other parts of the brain, but they are not identical to medulloblastoma.[5]
Although medulloblastomas are thought to originate from immature or embryonal cells at their earliest stage of development, the cell of origin depends on the subgroup of medulloblastoma. WNT tumors originate from the lower rhombic lip of the brainstem, while SHH tumors originate from the external granular layer.[citation needed]
Currently, medulloblastomas are thought to arise from cerebellar stem cells that have been prevented from dividing and differentiating into their normal cell types. This accounts for the histologic variants seen on biopsy. Both perivascular pseudorosette and Homer Wright pseudorosette formations are highly characteristic of medulloblastomas, and are seen in up to half of cases.[6] The classic rosette with tumor cells around a central lumen can be seen.[7]
In the past, medulloblastoma was classified using histology, but recent integrated genomic studies have revealed that medulloblastoma is composed of four distinct molecular and clinical variants termed WNT/β-catenin, Sonic Hedgehog, Group 3, and Group 4.[8] Of these subgroups, WNT patients have an excellent prognosis and group 3 patients have a poor prognosis. Also, a subgroup-specific alternative splicing further confirms the existence of distinct subgroups and highlights the transcriptional heterogeneity between subgroups.[9] Amplification of the Sonic Hedgehog pathway is the best characterized subgroup, with 25% of human tumors having mutations in Patched, Sufu (Suppressor of Fused Homolog), Smoothened, or other genes in this pathway.[10][11] Medulloblastomas are also seen in Gorlin syndrome as well as Turcot syndrome. Recurrent mutations in the genes CTNNB1, PTCH1, MLL2, SMARCA4, DDX3X, CTDNEP1, KDM6A, and TBR1 were identified in individuals with medulloblastoma.[12] Additional pathways disrupted in some medulloblastomas include MYC, Notch, BMP, and TGF-β signaling pathways.[10][11][4][13][14][15][16][1][excessive citations]
## Diagnosis[edit]
The tumor is distinctive on T1- and T2-weighted MRI with heterogeneous enhancement and a typical location adjacent to and extension into the fourth ventricle. Histologically, the tumor is solid, pink-gray in color, and is well circumscribed. The tumor is very cellular, with high mitotic activity, little cytoplasm, and a tendency to form clusters and rosettes.
The Chang staging system can be used in making the diagnosis [1].
Correct diagnosis of medulloblastoma may require ruling out atypical teratoid rhabdoid tumor.[17]
* Cerebellar medulloblastoma in an adult
* Cerebellar medulloblastoma in an adult
## Treatment[edit]
Treatment begins with maximal surgical removal of the tumor. The addition of radiation to the entire neuraxis and chemotherapy may increase the disease-free survival. Some evidence indicates that proton beam irradiation reduces the impact of radiation on the cochlear and cardiovascular areas and reduces the cognitive late effects of cranial irradiation.[18][19] This combination may permit a 5-year survival in more than 80% of cases. The presence of desmoplastic features such as connective tissue formation offers a better prognosis. Prognosis is worse if the child is less than 3 years old, degree of resection is inadequate, or if any CSF, spinal, supratentorial, or systemic spread occurs. Dementia after radiotherapy and chemotherapy is a common outcome appearing two to four years following treatment. Side effects from radiation treatment can include cognitive impairment, psychiatric illness, bone growth retardation, hearing loss, and endocrine disruption.[1][4][13] Increased intracranial pressure may be controlled with corticosteroids or a ventriculoperitoneal shunt.
### Chemotherapy[edit]
Chemotherapy is often used as part of treatment. Evidence of benefit, however, is not clear as of 2013.[20] A few different chemotherapeutic regimens for medulloblastoma are used; most involve a combination of lomustine, cisplatin, carboplatin, vincristine, or cyclophosphamide. In younger patients (less than 3–4 years of age), chemotherapy can delay, or in some cases possibly even eliminate, the need for radiotherapy. However, both chemotherapy and radiotherapy often have long-term toxicity effects, including delays in physical and cognitive development, higher risk of second cancers, and increased cardiac disease risks.[21][22]
## Outcomes[edit]
Array-based karyotyping of 260 medulloblastomas resulted in the following clinical subgroups based on cytogenetic profiles:[23]
* Poor prognosis: gain of 6q or amplification of MYC or MYCN
* Intermediate: gain of 17q or an i(17q) without gain of 6q or amplification of MYC or MYCN
* Excellent prognosis: 6q and 17q balanced or 6q deletion
Transcriptional profiling shows the existence of four main subgroups (Wnt, Shh, Group 3, and Group 4).[8]
* Very good prognosis: WNT group, CTNNB1 mutation
* Infants good prognosis, others intermediate: SHH group, PTCH1/SMO/SUFU mutation, GLI2 amplification, or MYCN amplification
* Poor prognosis: Group 3, MYC amplification, photoreceptor/GABAergic gene expression
* Intermediate prognosis: Group 4, gene expression of neuronal/glutamatergic, CDK6 amplification, MYCN amplification
### Survival[edit]
The historical cumulative relative survival rate for all age groups and histology follow-up was 60%, 52%, and 47% at 5 years, 10 years, and 20 years, respectively. Patients diagnosed with a medulloblastoma or PNET are 50 times more likely to die than a matched member of the general population. The most recent population-based (SEER) 5-year relative survival rates are 69% overall: 72% in children (1–9 years) and 67% in adults (20+ years). The 20-year survival rate is 51% in children. Children and adults have different survival profiles, with adults faring worse than children only after the fourth year after diagnosis (after controlling for increased background mortality). Before the fourth year, survival probabilities are nearly identical.[3] Long-term sequelae of standard treatment include hypothalamic-pituitary and thyroid dysfunction and intellectual impairment. The hormonal and intellectual deficits created by these therapies causes significant impairment of the survivors.[24]
In current clinical studies, the patients are divided into low-, standard- and high-risk groups:
* Depending on the study, healing rates of up to 100% are achieved in the low-risk group (usually WNT-activated).[25] The current efforts are therefore moving in the direction of reducing the intensity of the therapy and thus the negative long-term consequences while confirming the high healing rates.[26]
* In the HIT-SIOP PNET 4 study, in which 340 children and adolescents of the standard-risk group between the ages of four and 21 from several European countries participated, the 5-year survival rate was between 85% and 87% depending on the randomization. Around 78% of the patients remained without relapse for 5 years and are therefore considered to be cured.[27] After a relapse, the prognosis was very poor. Despite intensive treatment, only four of 66 patients were still alive 5 years after a relapse.[28]
* A US study involved 161 patients between the ages of three and 21 with a high-risk profile. Depending on the randomization, half of the patients additionally received carboplatin daily during the radiation. The 5-year survival rate of patients with carboplatin was 82%, those without 68%.[29] The European SIOP PNET 5 study is currently taking place and will run until April 2024, in which an attempt is made to confirm the promising results with carboplatin during irradiation in the standard risk group.[26]
## Epidemiology[edit]
Medulloblastomas affect just under two people per million per year, and affect children 10 times more than adults.[30] Medulloblastoma is the second-most frequent brain tumor in children after pilocytic astrocytoma[31] and the most common malignant brain tumor in children, comprising 14.5% of newly diagnosed brain tumors.[32] In adults, medulloblastoma is rare, comprising fewer than 2% of CNS malignancies.[33]
The rate of new cases of childhood medulloblastoma is higher in males (62%) than females (38%), a feature which is not seen in adults.[30][34] Medulloblastoma and other PNET`s are more prevalent in younger children than older children. About 40% of medulloblastoma patients are diagnosed before the age of five, 31% are between the ages of 5 and 9, 18.3% are between the ages of 10 and 14, and 12.7% are between the ages of 15 and 19.[35]
## Research models[edit]
Using gene transfer of SV40 large T-antigen in neuronal precursor cells of rats, a brain tumor model was established. The PNETs were histologically indistinguishable from the human counterparts and have been used to identify new genes involved in human brain tumor carcinogenesis.[36] The model was used to confirm p53 as one of the genes involved in human medulloblastomas, but since only about 10% of the human tumors showed mutations in that gene, the model can be used to identify the other binding partners of SV40 Large T- antigen, other than p53.[37] Recently, it has been generated a SHH-type mouse model with high-frequency of medulloblastoma, a Patched 1 heterozygous mice knockout for the medulloblastoma suppressor Tis21 (Patched1+-/Tis21 KO).[38] The high medulloblastoma frequency appears to be caused by the down regulation of Cxcl3, being Cxcl3 induced by Tis21.[38] Consistently, the treatment with Cxcl3 completely prevents the growth of medulloblastoma lesions in a Shh-type mouse model of medulloblastoma.[39] Thus, CXCL3 is a target for medulloblastoma therapy.
## References[edit]
1. ^ a b c Roussel MF, Hatten ME (2011). Cerebellum development and medulloblastoma. Current Topics in Developmental Biology. 94. pp. 235–82. doi:10.1016/B978-0-12-380916-2.00008-5. ISBN 9780123809162. PMC 3213765. PMID 21295689.
2. ^ Hinz C, Hesser D. Focusing On Brain Tumors: Medulloblastoma. American Brain Tumor Association. ISBN 0-944093-67-1. Archived from the original on 2008-09-08. Retrieved 2007-03-09.[page needed]
3. ^ a b Smoll NR (March 2012). "Relative survival of childhood and adult medulloblastomas and primitive neuroectodermal tumors (PNETs)". Cancer. 118 (5): 1313–22. doi:10.1002/cncr.26387. PMID 21837678. S2CID 8490276.
4. ^ a b c Polkinghorn WR, Tarbell NJ (May 2007). "Medulloblastoma: tumorigenesis, current clinical paradigm, and efforts to improve risk stratification". Nature Clinical Practice. Oncology. 4 (5): 295–304. doi:10.1038/ncponc0794. PMID 17464337. S2CID 24461280.
5. ^ Packer R (2002). "Medulloblastoma". Clinical Trials and Noteworthy Treatments for Brain Tumors.
6. ^ White LE, Levy RM, Alam M (2008). "Ch. 127. Neoplasias and Hyperplasias of Muscular and Neural Origin". In Wolff K, Goldsmith LA, Katz SI, Gilchrest B, Paller AS, Leffell DJ (eds.). Fitzpatrick's Dermatology in General Medicine (7e ed.). McGraw-Hill Medical.
7. ^ Ropper AH, Samuels MA. "Ch. 31. Intracranial Neoplasms and Paraneoplastic Disorders". In Ropper AH, Samuels MA (eds.). Adams and Victor's Principles of Neurology (9e ed.).
8. ^ a b Taylor MD, Northcott PA, Korshunov A, Remke M, Cho YJ, Clifford SC, et al. (April 2012). "Molecular subgroups of medulloblastoma: the current consensus". Acta Neuropathologica. 123 (4): 465–72. doi:10.1007/s00401-011-0922-z. PMC 3306779. PMID 22134537.
9. ^ Dubuc AM, Morrissy AS, Kloosterhof NK, Northcott PA, Yu EP, Shih D, et al. (April 2012). "Subgroup-specific alternative splicing in medulloblastoma". Acta Neuropathologica. 123 (4): 485–499. doi:10.1007/s00401-012-0959-7. PMC 3984840. PMID 22358458.
10. ^ a b Marino S (January 2005). "Medulloblastoma: developmental mechanisms out of control". Trends in Molecular Medicine. 11 (1): 17–22. doi:10.1016/j.molmed.2004.11.008. PMID 15649818.
11. ^ a b Gibson P, Tong Y, Robinson G, Thompson MC, Currle DS, Eden C, et al. (December 2010). "Subtypes of medulloblastoma have distinct developmental origins". Nature. 468 (7327): 1095–9. Bibcode:2010Natur.468.1095G. doi:10.1038/nature09587. PMC 3059767. PMID 21150899.
12. ^ Jones DT, Jäger N, Kool M, Zichner T, Hutter B, Sultan M, et al. (August 2012). "Dissecting the genomic complexity underlying medulloblastoma". Nature. 488 (7409): 100–5. Bibcode:2012Natur.488..100J. doi:10.1038/nature11284. PMC 3662966. PMID 22832583.
13. ^ a b Ellison DW (September 2010). "Childhood medulloblastoma: novel approaches to the classification of a heterogeneous disease". Acta Neuropathologica. 120 (3): 305–16. doi:10.1007/s00401-010-0726-6. PMID 20652577. S2CID 29093769.
14. ^ Cho YJ, Tsherniak A, Tamayo P, Santagata S, Ligon A, Greulich H, et al. (April 2011). "Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome". Journal of Clinical Oncology. 29 (11): 1424–30. doi:10.1200/JCO.2010.28.5148. PMC 3082983. PMID 21098324.
15. ^ Northcott PA, Shih DJ, Peacock J, Garzia L, Morrissy AS, Zichner T, et al. (August 2012). "Subgroup-specific structural variation across 1,000 medulloblastoma genomes". Nature. 488 (7409): 49–56. Bibcode:2012Natur.488...49N. doi:10.1038/nature11327. PMC 3683624. PMID 22832581.
16. ^ Hatten ME, Roussel MF (March 2011). "Development and cancer of the cerebellum". Trends in Neurosciences. 34 (3): 134–42. doi:10.1016/j.tins.2011.01.002. PMC 3051031. PMID 21315459.
17. ^ Burger PC, Yu IT, Tihan T, Friedman HS, Strother DR, Kepner JL, et al. (September 1998). "Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a Pediatric Oncology Group study". The American Journal of Surgical Pathology. 22 (9): 1083–92. doi:10.1097/00000478-199809000-00007. PMID 9737241.
18. ^ Merchant TE, Hua CH, Shukla H, Ying X, Nill S, Oelfke U (July 2008). "Proton versus photon radiotherapy for common pediatric brain tumors: comparison of models of dose characteristics and their relationship to cognitive function". Pediatric Blood & Cancer. 51 (1): 110–7. doi:10.1002/pbc.21530. PMID 18306274.
19. ^ Blomstrand M, Brodin NP, Munck Af Rosenschöld P, Vogelius IR, Sánchez Merino G, Kiil-Berthlesen A, et al. (July 2012). "Estimated clinical benefit of protecting neurogenesis in the developing brain during radiation therapy for pediatric medulloblastoma". Neuro-Oncology. 14 (7): 882–9. doi:10.1093/neuonc/nos120. PMC 3379806. PMID 22611031.
20. ^ Michiels EM, Schouten-Van Meeteren AY, Doz F, Janssens GO, van Dalen EC (January 2015). "Chemotherapy for children with medulloblastoma". The Cochrane Database of Systematic Reviews. 1: CD006678. doi:10.1002/14651858.CD006678.pub2. PMID 25879092.
21. ^ Fossati P, Ricardi U, Orecchia R (February 2009). "Pediatric medulloblastoma: toxicity of current treatment and potential role of protontherapy". Cancer Treatment Reviews. 35 (1): 79–96. doi:10.1016/j.ctrv.2008.09.002. PMID 18976866.
22. ^ Crawford JR, MacDonald TJ, Packer RJ (December 2007). "Medulloblastoma in childhood: new biological advances". The Lancet. Neurology. 6 (12): 1073–85. doi:10.1016/S1474-4422(07)70289-2. PMID 18031705. S2CID 13013757.
23. ^ Pfister S, Remke M, Benner A, Mendrzyk F, Toedt G, Felsberg J, et al. (April 2009). "Outcome prediction in pediatric medulloblastoma based on DNA copy-number aberrations of chromosomes 6q and 17q and the MYC and MYCN loci". Journal of Clinical Oncology. 27 (10): 1627–36. doi:10.1200/JCO.2008.17.9432. PMID 19255330. S2CID 21794571.
24. ^ Packer, Roger J. (2010). "Medulloblastoma".[self-published source?]
25. ^ "Identifying Low-Risk Medulloblastoma to De-escalate Therapy". Medscape. Retrieved 2020-01-03.
26. ^ a b Clinical trial number NCT02066220 for "International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma" at ClinicalTrials.gov
27. ^ Lannering B, Rutkowski S, Doz F, Pizer B, Gustafsson G, Navajas A, et al. (September 2012). "Hyperfractionated versus conventional radiotherapy followed by chemotherapy in standard-risk medulloblastoma: results from the randomized multicenter HIT-SIOP PNET 4 trial". Journal of Clinical Oncology. 30 (26): 3187–93. doi:10.1200/JCO.2011.39.8719. PMID 22851561.
28. ^ Sabel M, Fleischhack G, Tippelt S, Gustafsson G, Doz F, Kortmann R, et al. (September 2016). "Relapse patterns and outcome after relapse in standard risk medulloblastoma: a report from the HIT-SIOP-PNET4 study". Journal of Neuro-Oncology. 129 (3): 515–524. doi:10.1007/s11060-016-2202-1. PMC 5020107. PMID 27423645.
29. ^ Jakacki RI, Burger PC, Zhou T, Holmes EJ, Kocak M, Onar A, et al. (July 2012). "Outcome of children with metastatic medulloblastoma treated with carboplatin during craniospinal radiotherapy: a Children's Oncology Group Phase I/II study". Journal of Clinical Oncology. 30 (21): 2648–53. doi:10.1200/JCO.2011.40.2792. PMC 4559602. PMID 22665539.
30. ^ a b Smoll NR, Drummond KJ (November 2012). "The incidence of medulloblastomas and primitive neurectodermal tumours in adults and children". Journal of Clinical Neuroscience. 19 (11): 1541–4. doi:10.1016/j.jocn.2012.04.009. PMID 22981874. S2CID 7922631.
31. ^ "Chapter 7: Tumors of the Central Nervous System". Neuropathology. NEOMED. Archived from the original on 12 March 2012.
32. ^ Gurney JG, Smith MA, Bunin GR (1999). "CNS and Miscellaneous Intracranial and Intraspinal Neoplasms" (PDF). In Ries LA, Smith MA, Gurney JG, Linet M, Tamra T, Young JL, Bunin GR (eds.). Cancer Incidence and Survival among Children and Adolescents: United States SEER Program 1975–1995 (PDF). Bethesda MD: National Cancer Institute. NIH Pub. No. 99-4649.
33. ^ "Selected Primary Brain and Central Nervous System Tumor Age-Specific Incidence Rates" (PDF). Central Brain Tumor Registry of the United States, 1998–2002.
34. ^ "Selected Childhood Primary Brain and Central Nervous System Tumor Incidence Rates by Major Histology Groupings, Histology and Gender" (PDF). Central Brain Tumor Registry of the United States, 1998–2002.
35. ^ "Selected Childhood Primary Brain and Central Nervous System Tumor Age-Specific Incidence Rates" (PDF). Central Brain Tumor Registry of the United States, 1998–2002.
36. ^ Eibl RH, Kleihues P, Jat PS, Wiestler OD (March 1994). "A model for primitive neuroectodermal tumors in transgenic neural transplants harboring the SV40 large T antigen". The American Journal of Pathology. 144 (3): 556–64. PMC 1887088. PMID 8129041.
37. ^ Ohgaki H, Eibl RH, Wiestler OD, Yasargil MG, Newcomb EW, Kleihues P (November 1991). "p53 mutations in nonastrocytic human brain tumors". Cancer Research. 51 (22): 6202–5. PMID 1933879.
38. ^ a b Farioli-Vecchioli S, Cinà I, Ceccarelli M, Micheli L, Leonardi L, Ciotti MT, et al. (October 2012). "Tis21 knock-out enhances the frequency of medulloblastoma in Patched1 heterozygous mice by inhibiting the Cxcl3-dependent migration of cerebellar neurons". The Journal of Neuroscience. 32 (44): 15547–64. doi:10.1523/JNEUROSCI.0412-12.2012. PMC 6621585. PMID 23115191.
39. ^ Ceccarelli M, Micheli L, Tirone F (2016). "Suppression of Medulloblastoma Lesions by Forced Migration of Preneoplastic Precursor Cells with Intracerebellar Administration of the Chemokine Cxcl3". Frontiers in Pharmacology. 7: 484. doi:10.3389/fphar.2016.00484. PMC 5159413. PMID 28018222.
## External links[edit]
* Brain and Spinal Tumors: Hope Through Research (National Institute of Neurological Disorders and Stroke)
* Medulloblastoma Images MedPix Medical Image Database
Classification
D
* ICD-O: M9470/3
* OMIM: 155255
* MeSH: D008527
* DiseasesDB: 31105
* SNOMED CT: 443333004
External resources
* eMedicine: neuro/624 ped/1396 radio/434
* Orphanet: 616
* v
* t
* e
Tumours of the nervous system
Endocrine
Sellar:
* Craniopharyngioma
* Pituicytoma
Other:
* Pinealoma
CNS
Neuroepithelial
(brain tumors,
spinal tumors)
Glioma
Astrocyte
* Astrocytoma
* Pilocytic astrocytoma
* Pleomorphic xanthoastrocytoma
* Subependymal giant cell astrocytoma
* Fibrillary astrocytoma
* Anaplastic astrocytoma
* Glioblastoma multiforme
Oligodendrocyte
* Oligodendroglioma
* Anaplastic oligodendroglioma
Ependyma
* Ependymoma
* Subependymoma
Choroid plexus
* Choroid plexus tumor
* Choroid plexus papilloma
* Choroid plexus carcinoma
Multiple/unknown
* Oligoastrocytoma
* Gliomatosis cerebri
* Gliosarcoma
Mature
neuron
* Ganglioneuroma: Ganglioglioma
* Retinoblastoma
* Neurocytoma
* Dysembryoplastic neuroepithelial tumour
* Lhermitte–Duclos disease
PNET
* Neuroblastoma
* Esthesioneuroblastoma
* Ganglioneuroblastoma
* Medulloblastoma
* Atypical teratoid rhabdoid tumor
Primitive
* Medulloepithelioma
Meninges
* Meningioma
* Hemangiopericytoma
Hematopoietic
* Primary central nervous system lymphoma
PNS:
* Nerve sheath tumor
* Cranial and paraspinal nerves
* Neurofibroma
* Neurofibromatosis
* Neurilemmoma/Schwannoma
* Acoustic neuroma
* Malignant peripheral nerve sheath tumor
Other
* WHO classification of the tumors of the central nervous system
Note: Not all brain tumors are of nervous tissue, and not all nervous tissue tumors are in the brain (see brain metastasis).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Medulloblastoma | c0206663 | 7,296 | wikipedia | https://en.wikipedia.org/wiki/Medulloblastoma | 2021-01-18T19:07:25 | {"gard": ["3963", "7005"], "mesh": ["D018242", "D008527"], "umls": ["C1334410", "C0206663", "C0025149"], "orphanet": ["616"], "wikidata": ["Q1333608"]} |
Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties. Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is usually autosomal recessive. Treatment depends on the symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Bardet-Biedl syndrome 1 | c2936862 | 7,297 | gard | https://rarediseases.info.nih.gov/diseases/820/bardet-biedl-syndrome-1 | 2021-01-18T18:01:53 | {"mesh": ["C537909"], "omim": ["209900"], "umls": ["C2936862"], "orphanet": ["110"], "synonyms": ["BBS1", "Bardet-Biedl syndrome", "BBS"]} |
Schwartz–Jampel syndrome
Other namesMyotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Schwartz–Jampel syndrome is inherited in an autosomal recessive manner.
SpecialtyOrthopedic
Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2)[1] which causes osteochondrodysplasia associated with myotonia.[2] Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy.[3]
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Treatment
* 4 Prognosis
* 5 History
* 6 Society
* 7 References
* 8 External links
## Cause[edit]
Schwartz–Jampel syndrome is caused by mutations in the HSPG2 gene, which makes the protein perlecan, which is found in muscle and cartilage.[3] Relationships between the disease and perlecan deficiency have been studied.[4] In Schwartz–Jampel syndrome, it is suspected that abnormal perlecan function leads to a deficiency in acetylcholinesterase, an enzyme involved in breaking down the neurotransmitter acetylcholine, which incites muscle contraction. If acetylcholine is not broken down, it can lead to prolonged muscle contraction/stiffening of the muscles (myotonia).[3]
## Diagnosis[edit]
Schwartz–Jampel syndrome is diagnosed on the basis of characteristic facial features, skeletal features and myotonia. Blood tests may show elevated serum creatine kinase or aldolase. X-rays, muscle biopsy or electromyography (EMG) may be useful. Genetic testing for the HSPG2 gene may confirm diagnosis.[3]
## Treatment[edit]
There is no cure for Schwartz–Jampel syndrome. Treatment is aimed at reducing muscle stiffness and cramping and may include massage, muscle warming and gradual strengthening exercises. Muscle relaxants or anti-seizure medications, especially carbamazepine, may be used. Eye symptoms such as blepharospasm might be relieved by Botox. Otherwise, a variety of surgical procedures have been found to be effective. Malignant hyperthermia, a potential complication of surgery, is a greater risk for people Schwartz–Jampel syndrome and an important consideration when considering surgery.[3]
## Prognosis[edit]
Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy.[3]
## History[edit]
The syndrome was first described in 1962 by American ophthalmologist Oscar Schwartz and American neuro-ophthalmologist Robert Steven Jampel.[5][6]
## Society[edit]
In March 2013, there was media coverage on a British 7-year-old boy with chronically tense muscles due to SJS, and his three-legged pet dog. They became first-place winners of the 2013 Crufts Kennel Club's annual Friends for Life competition, which "celebrates dogs that have truly earned the title of man’s best friend through bravery, support or companionship".[7][8][9] The dog was also awarded The Braveheart Honour in the ceremony of The British Animal Honours in April 2013 (Haatchi the dog). The two are featured in the book Haatchi & Little B (2014, ISBN 125-006-936-X) by Wendy Holden[10] and on Haatchi's Facebook page.[11]
## References[edit]
1. ^ "Schwartz Jampel syndrome type 1". National Center for Advancing Translational Sciences. Retrieved 20 February 2014.
2. ^ Mallineni, Sreekanth K.; Yiu, Cynthia K. Y.; King, Nigel M. (June 2012). "Schwartz-Jampel syndrome: a review of the literature and case report". Special Care in Dentistry. 32 (3): 105–111. doi:10.1111/j.1754-4505.2012.00249.x. PMID 22591433.
3. ^ a b c d e f "Schwartz Jampel syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-03-05.
4. ^ Stum, M; Davoine, CS; Fontaine, B; Nicole, S (Oct 2005). "Schwartz-Jampel syndrome and perlecan deficiency". Acta Myologica. 24 (2): 89–92. PMID 16550923.
5. ^ Ault, Jennifer (2012-02-01). "Schwartz-Jampel Syndrome". Medscape.
6. ^ Schwartz, O; Jampel, R. S. (1962). "Congenital blepharophimosis associated with a unique generalized myopathy". Archives of Ophthalmology. 68: 52–7. doi:10.1001/archopht.1962.00960030056011. PMID 13909723.
7. ^ Owen and Haatchi win Friends for Life at Crufts 2013, Crufts.org, 10 March 2013
8. ^ Crufts bravery award win for three-legged dog Haatchi, BBC News, 11 March 2013
9. ^ Three-Legged Dog, Haatchi, Wins 'Friends For Life' Crufts Award For 7-Year-Old Owner, Owen, Huffingtonpost, 10 March 2013
10. ^ "Haatchi & Little B". Wendy Holden. Retrieved March 8, 2019.
11. ^ Haatchi on Facebook
## External links[edit]
Classification
D
* ICD-10: G71.1 Q78.8
* OMIM: 255800
External resources
* Orphanet: 800
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| Schwartz–Jampel syndrome | c0036391 | 7,298 | wikipedia | https://en.wikipedia.org/wiki/Schwartz%E2%80%93Jampel_syndrome | 2021-01-18T18:58:48 | {"gard": ["250"], "mesh": ["D010009"], "umls": ["C0036391"], "orphanet": ["800"], "wikidata": ["Q9390341"]} |
A number sign (#) is used with this entry because cerebral creatine deficiency syndrome-3 (CCDS3), also known as arginine:glycine amidinotransferase (AGAT) deficiency, is caused by homozygous mutation in the GATM gene (602360) on chromosome 15q21.
Description
Cerebral creatine deficiency syndrome-3 is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain (Schulze, 2003). Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. Oral creatine supplementation can offer symptom improvement (summary by Edvardson et al., 2010).
For a general phenotypic description and a discussion of genetic heterogeneity of cerebral creatine deficiency syndrome, see CCDS1 (300352).
Clinical Features
Bianchi et al. (2000) reported 2 female sibs, aged 4 and 6 years, with mental retardation and severe creatine deficiency in the brain. GAMT (601240) enzyme activity was normal. Urinary guanidinoacetate concentrations were low, suggesting a deficiency of AGAT. Treatment with oral creatine promptly increased the level of cerebral creatine, which was paralleled by a favorable clinical response, as shown by significant improvement of highly abnormal developmental scores.
Battini et al. (2006) reported an affected 5-year-old cousin of the sisters reported by Bianchi et al. (2000). At age 2 years he presented with psychomotor and language delay and autistic-like behavior. He was found to have severe creatine deficiency in the brain. Creatine monohydrate supplementation normalized creatine levels and resulted in clinical improvement.
Edvardson et al. (2010) reported 2 sibs, born of unrelated Yemenite Jewish parents, with cerebral creatine deficiency syndrome. Both showed delayed psychomotor development and failure to thrive in infancy. At ages 18 and 12 years, respectively, both had mental retardation and decreased muscle mass and strength, mainly proximal, associated with increased serum creatine kinase. Both fatigued easily and refrained from sports. The older sib had high-arched palate, long fingers, and pes cavus. Muscle biopsies showed slight preponderance of type 2 fibers and tubular aggregates. Respiratory chain complex activities were variably decreased. Urinary guanidinoacetate (GAA) levels were significantly decreased, and brain MRS showed decreased creatine signals. Treatment with oral creatine resulted in some clinical improvement and increased cerebral creatine levels.
Verma (2010) reported 2 Jordanian sibs, born of consanguineous parents, with CCDS3. Both showed delayed development in early childhood. At 18 to 20 years, both also developed progressive proximal muscle weakness with features of a myopathy. Muscle biopsy of 1 patient showed fiber size variation and slight atrophy of type 1 and type 2 fibers. Laboratory studies showed undetectable GAA levels. Treatment with oral creatine supplementation resulted in dramatic improvement of muscle strength, but speech and cognitive impairment were unchanged. Genetic analysis identified a homozygous truncating mutation in the GATM gene (R169X; 602360.0003).
Ndika et al. (2012) reported a 9-year-old Chinese girl with CCDS3. She had delayed motor development and hypotonia in infancy and later showed poor overall growth. Laboratory studies yielded generalized organic aciduria, markedly reduced urinary and plasma GAA, and low serum creatine. AGAT enzyme activity was undetectable in cultured lymphoblasts. Early and intense treatment with creatine supplementation resulted in significant developmental progress, with advanced academic performance, but average verbal skills.
Nouioua et al. (2013) reported 2 sisters, aged 11 and 6 years, with CCDS3. They had moderately delayed psychomotor development, language delay, and progressive proximal muscle weakness with Gowers sign and myopathic features on EMG. Laboratory studies showed undetectable guanidinoacetate and low levels of creatine in plasma and urine. Brain MRS showed a markedly reduced level of creatine. Treatment with oral creatine resulted in dramatic improvement in muscle strength and mild improvement in language and cognitive functions. Genetic analysis identified a homozygous missense mutation in the GATM gene (Y203S; 602360.0005).
Diagnosis
Battini et al. (2006) noted that low plasma and urine levels of guanidinoacetic acid and creatine levels at birth are indicative of AGAT deficiency. Complete absence of cerebral total creatine by brain proton magnetic spectroscopy confirms the diagnosis.
Among 20 patients referred for genetic testing for mutations in the GATM gene, Comeaux et al. (2013) found that 7 had normal GAA plasma levels and 3 of 6 with initially low GAA levels had normal GAA plasma levels on repeat testing. These 10 patients were not sequenced for GATM mutations. Of the other 10 patients with low GAA levels who were sequenced, only 2 were found to have pathogenic mutations; 8 with low GAA levels had normal GATM sequences. The findings indicated that plasma GAA levels as a biomarker has 100% specificity for GATM mutations (no individuals with normal GAA had mutations), but low sensitivity (low GAA does not necessarily indicate GATM mutations), perhaps due to low GAA levels in normal individuals.
Inheritance
The transmission pattern of AGAT deficiency in the family reported by Bianchi et al. (2000) and Battini et al. (2006) was consistent with autosomal recessive inheritance.
Clinical Management
Battini et al. (2006) suggested that early treatment in patients with AGAT deficiency may prevent the phenotypic expression of the disease. They treated the affected brother of the sisters reported by Bianchi et al. (2000) with creatine supplementation beginning at age 2 months before the onset of symptoms. At age 18 months, he had normal growth parameters and developmental quotients, whereas his affected relatives, at the same age, already showed a severe delay in somatic growth and psychomotor development, associated with hypotonia and autistic-like behavior.
Molecular Genetics
In the sibs reported by Bianchi et al. (2000), Item et al. (2001) identified a homozygous mutation in the GATM gene (W149X; 602360.0001). The parents were heterozygous for the mutant allele, with intermediate residual AGAT activities.
In an affected cousin of the sibs reported by Bianchi et al. (2000), Battini et al. (2002) identified homozygosity for the same W149X mutation; his parents and 10 additional subjects in the pedigree were heterozygous for the mutation.
In 2 sibs, born of unrelated Yemenite Jewish parents, with cerebral creatine deficiency syndrome-3, Edvardson et al. (2010) identified a homozygous truncating mutation in the GATM gene (602360.0002).
In a Chinese girl with CCDS3, Ndika et al. (2012) identified a homozygous splice site mutation in the GATM gene (602360.0004).
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive MUSCLE, SOFT TISSUES \- Muscle weakness, predominantly proximal (in some patients) \- Gowers sign (in some patients) \- Muscle biopsy shows fiber type variation (in some patients) NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Mental retardation, mild to moderate \- Speech delay \- Brain MRS shows decreased creatine content Behavioral Psychiatric Manifestations \- Autistic behavior LABORATORY ABNORMALITIES \- Decreased plasma and urinary guanidinoacetate (GAA) \- Organic aciduria MISCELLANEOUS \- Onset in infancy \- Favorable response to oral creatine treatment MOLECULAR BASIS \- Caused by mutation in the L-arginine:glycine amidinotransferase gene (GATM, 602360.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element-binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: luteinizing hormone
*[AR]: androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
| CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | c2675179 | 7,299 | omim | https://www.omim.org/entry/612718 | 2019-09-22T16:00:42 | {"doid": ["0050712"], "mesh": ["C567192"], "omim": ["612718"], "orphanet": ["35704"], "synonyms": ["Alternative titles", "ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY", "AGAT DEFICIENCY", "GATM DEFICIENCY", "CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY"], "genereviews": ["NBK3794"]} |
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