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https://en.wikipedia.org/wiki/Pneumonic_plague
disease
Pneumonic plague
Pneumonic plague is a severe lung infection caused by the bacterium Yersinia pestis. Symptoms include fever, headache, shortness of breath, chest pain, and cough. They typically start about three to seven days after exposure. It is one of three forms of plague, the other two being septicemic plague and bubonic plague. ...
The most apparent symptom of pneumonic plague is coughing, often with hemoptysis (coughing up blood). With pneumonic plague, the first signs of illness are fever, headache, weakness and rapidly developing pneumonia with shortness of breath, chest pain, cough and sometimes bloody or watery sputum. The pneumonia progress...
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https://en.wikipedia.org/wiki/Bagassosis
disease
Bagassosis
Bagassosis, an interstitial lung disease, is a type of hypersensitivity pneumonitis attributed to exposure to moldy molasses (bagasse).
Some symptoms and signs of Bagassosis include breathlessness, cough, haemoptysis, slight fever. Acute diffuse bronchiolitis may also occur. An xray may show mottling of lungs or a shadow. Bagassosis has been shown to be due to a thermophilic actinomycetes for which the name thermoactinomycetes sacchari was suggested. T...
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https://en.wikipedia.org/wiki/Baastrup's_sign
disease
Baastrup's sign
Baastrup's sign, or kissing spine, is an orthopedic and radiographic disorder that often occurs in elderly humans. It is characterized by enlargement of the posterior spinous projections of the lumbar spine, with normal intervertebral disc height and neuroforamina. The reason it is referred to as kissing spine is becau...
The salient feature of the disorder is the exuberant osteophytosis that occurs at posterior lumbar spinous processes. Osteophytes are coarse calcifications at the edges of bone that form due to repetitive stress and trauma. There is also atrophy and fatty replacement of paraspinal musculature, which can be detected by ...
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https://en.wikipedia.org/wiki/Cystinuria
disease
Cystinuria
Cystinuria is an inherited autosomal recessive disease that is characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureter, and bladder. It is a type of aminoaciduria.
Cystinuria is a cause of persistent kidney stones. It is a disease involving the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine, and is one of many causes of kidney stones. If not treated properly, the disease could cause serious damage to the kidneys and surrounding ...
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https://en.wikipedia.org/wiki/Fibroadenoma
disease
Fibroadenoma
Fibroadenomas, are benign breast tumours characterized by an admixture of stromal and epithelial tissue. Breasts are made of lobules (milk producing glands) and ducts (tubes that carry the milk to the nipple). These are surrounded by glandular, fibrous and fatty tissues. Fibroadenomas develop from the lobules. The glan...
The typical case is the presence of a painless, firm, solitary, mobile, slowly growing lump in the breast of a woman of child-bearing years. In the male breast, fibroepithelial tumors are very rare, and are mostly phyllodes tumors. Exceptionally rare case reports exist of fibroadenomas in the male breast, however these...
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https://en.wikipedia.org/wiki/New_daily_persistent_headache
disease
New daily persistent headache
New daily persistent headache (NDPH) is a primary headache syndrome which can mimic chronic migraine and chronic tension-type headache. The headache is daily and unremitting from very soon after onset (within 3 days at most), usually in a person who does not have a history of a primary headache disorder. The pain can b...
The headaches can vary greatly in their clinical presentation and duration. Quality of the headache has been described as dull and/or pressure-like sensation, and throbbing and/or pulsating sensation. The pain is usually on both sides of the head (in 88–93% of people with NDPH), but may be unilateral, and may be locali...
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https://en.wikipedia.org/wiki/Adrenoleukodystrophy
disease
Adrenoleukodystrophy
Adrenoleukodystrophy is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by the relevant enzymes not functioning properly, which then causes damage to the myelin sheath of the nerves, resulting in seizures and hyperactivity. Other side effects include problems with speaking, listening, ...
ALD can present in different ways. The different presentations are complicated by the pattern of X-linked recessive inheritance. There have been seven phenotypes described in males with ABCD1 mutations and five in females. Initial symptoms in boys affected with the childhood cerebral form of ALD include emotional insta...
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https://en.wikipedia.org/wiki/Endodermal_sinus_tumor
disease
Endodermal sinus tumor
Endodermal sinus tumor (EST), also known as yolk sac tumor (YST), is a member of the germ cell tumor group of cancers. It is the most common testicular tumor in children under 3, and is also known as infantile embryonal carcinoma. This age group has a very good prognosis. In contrast to the pure form typical of infants...
The histology of EST is variable, but usually includes malignant endodermal cells. These cells secrete alpha-fetoprotein (AFP), which can be detected in tumor tissue, serum, cerebrospinal fluid, urine and, in the rare case of fetal EST, in amniotic fluid. When there is incongruence between biopsy and AFP test results f...
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https://en.wikipedia.org/wiki/Neonatal_infection
disease
Neonatal infection
Neonatal infections are infections of the neonate (newborn) during the neonatal period or first four weeks after birth. Neonatal infections may be contracted by transplacental transfer in utero, in the birth canal during delivery (perinatal), or by other means after birth. Some neonatal infections are apparent soon aft...
In industrialized countries, treatment for neonatal infections takes place in the neonatal intensive care unit. The causes and reasons for neonatal infection are many. The origin of infectious bacteria and some other pathogens is often the maternal gastrointestinal and genitourinary tract. Many of the maternal infectio...
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https://en.wikipedia.org/wiki/Ciliopathy
disease
Ciliopathy
A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. Although ciliopathies are usually considered to involve proteins that localize to motile and/or immotile (primary) cilia or centrosomes, it is possible for ciliopathies to be associated ...
A wide variety of symptoms are potential clinical features of ciliopathy. - Chemosensation abnormalities, typically via ciliated epithelial cellular dysfunction. - Defective thermosensation or mechanosensation, often via ciliated epithelial cellular dysfunction. - Cellular motility dysfunction - Issues with displacemen...
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https://en.wikipedia.org/wiki/Granular_corneal_dystrophy
disease
Granular corneal dystrophy
Granular corneal dystrophy is a slowly progressive corneal dystrophy that most often begins in early childhood. Granular corneal dystrophy has two types: - Granular corneal dystrophy type I , also corneal dystrophy Groenouw type I, is a rare form of human corneal dystrophy. It was first described by German ophthalmolog...
Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31. The disorder is inherited in an autosomal dominant manner. This indicates that the defective gene responsible for the disorder is located on an autosome (chromosome 5 is an autosome), and only one copy of the gene is suffi...
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https://en.wikipedia.org/wiki/Fungal_meningitis
disease
Fungal meningitis
Fungal meningitis refers to meningitis caused by a fungal infection.
Symptoms of fungal meningitis are generally similar to those of other types of meningitis, and include: a fever, stiff neck, severe headache, photophobia (sensitivity to light), nausea and vomiting, and altered mental status (drowsiness or confusion). Fungal meningitis may be caused by the following (and also other) ty...
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https://en.wikipedia.org/wiki/Laurence–Moon_syndrome
disease
Laurence–Moon syndrome
Laurence–Moon syndrome (LMS) is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities.
LMS is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive diso...
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https://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma
disease
Alveolar soft part sarcoma
Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft-tissue sarcoma, that grows slowly and whose cell of origin is unknown. It arises mainly in children and young adults. ASPS can migrate (metastasize) into other parts of the body, typically the lungs and the brain. ASPS is a sarcoma, and that indi...
Chromosomal analysis of ASPS shows the breaking and joining of two chromosomes in the tumor cells. A piece of chromosome X breaks and is joined to chromosome 17. This translocation creates a fusion between two genes named ASPL and TFE3, which results in the formation of an aberrant protein (termed fusion protein) that ...
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https://en.wikipedia.org/wiki/Viral_hepatitis
disease
Viral hepatitis
Viral hepatitis is liver inflammation due to a viral infection. It may present in acute (recent infection, relatively rapid onset) or chronic forms. The most common causes of viral hepatitis are the five unrelated hepatotropic viruses hepatitis A, hepatitis B, hepatitis C, hepatitis D, and hepatitis E. In addition to t...
The most common cause of hepatitis is viral. Although they are classified under the disease hepatitis, these viruses are not all related. Hepatitis A or infectious jaundice is caused by hepatitis A virus (HAV), a picornavirus transmitted by the fecal-oral route often associated with ingestion of contaminated food. It c...
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https://en.wikipedia.org/wiki/Lichen_planus
disease
Lichen planus
Lichen planus (LP) is a disease characterized by itchy reddish-purple polygon-shaped skin lesions on the lower back, wrists, and ankles. It may also present with a burning sensation in the mouth, and a lattice-like network of white lines near sites of erosion (Wickham striae). The cause is unknown, but it is thought to...
Lichen planus (LP) is a chronic inflammatory disease of the skin, mucous membranes and nails. Lichen planus lesions are so called because of their "lichen-like" appearance and can be classified by the site they involve, or by their morphology. Lichen planus may be categorized as affecting mucosal or cutaneous surfaces....
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https://en.wikipedia.org/wiki/Athetoid_cerebral_palsy
disease
Athetoid cerebral palsy
Athetoid cerebral palsy or dyskinetic cerebral palsy (sometimes abbreviated ADCP) is a type of cerebral palsy primarily associated with damage, like other forms of CP, to the basal ganglia in the form of lesions that occur during brain development due to bilirubin encephalopathy and hypoxic-ischemic brain injury. Unlik...
ADCP is often characterized by slow, uncontrolled movements of the extremities and trunk. Small, rapid, random and repetitive, uncontrolled movements known as chorea may also occur. Involuntary movements often increase during periods of emotional stress or excitement and disappear when the patient is sleeping or distra...
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https://en.wikipedia.org/wiki/Barrett's_esophagus
disease
Barrett's esophagus
Barrett's esophagus refers to an abnormal change (metaplasia) in the cells of the lower portion of the esophagus. It is characterized by the replacement of the normal stratified squamous epithelium lining of the esophagus by simple columnar epithelium with goblet cells (which are usually found lower in the gastrointest...
The change from normal to premalignant cells that indicate Barrett's esophagus does not cause any particular symptoms. Barrett's esophagus, however, is associated with these symptoms: - frequent and longstanding heartburn - trouble swallowing (dysphagia) - vomiting blood (hematemesis) - pain under the sternum where the...
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https://en.wikipedia.org/wiki/Tonsillitis
disease
Tonsillitis
Tonsillitis is inflammation of the tonsils, typically of rapid onset. It is a type of pharyngitis. Symptoms may include sore throat, fever, enlargement of the tonsils, trouble swallowing, and large lymph nodes around the neck. Complications include peritonsillar abscess. Tonsillitis is most commonly caused by a viral i...
Common signs and symptoms include: - sore throat - red, swollen tonsils - pain when swallowing - high temperature (fever) - headache - tiredness - chills - a general sense of feeling unwell (malaise) - white pus-filled spots on the tonsils - swollen lymph nodes (glands) in the neck - pain in the ears or neck - weight l...
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https://en.wikipedia.org/wiki/Flail_chest
disease
Flail chest
Flail chest is a life-threatening medical condition that occurs when a segment of the rib cage breaks due to trauma and becomes detached from the rest of the chest wall. Two of the symptoms of flail chest are chest pain and shortness of breath. It occurs when multiple adjacent ribs are broken in multiple places, separa...
Two of the symptoms of flail chest are chest pain and shortness of breath. The characteristic paradoxical motion of the flail segment occurs due to pressure changes associated with respiration that the rib cage normally resists: - During normal inspiration, the diaphragm contracts and intercostal muscles pull the rib c...
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https://en.wikipedia.org/wiki/Neurogenic_inflammation
disease
Neurogenic inflammation
Neurogenic inflammation is inflammation arising from the local release by afferent neurons of inflammatory mediators such as Substance P, Calcitonin Gene-Related Peptide (CGRP), neurokinin A (NKA), and endothelin-3 (ET-3). TRPA1 channels stimulated by lipopolysaccharide (LPS) may also cause acute neurogenic inflammatio...
Magnesium deficiency causes neurogenic inflammation in a rat model. Researchers have theorized that since substance P which appears at day five of induced magnesium deficiency, is known to stimulate in turn the production of other inflammatory cytokines including IL-1, Interleukin 6 (IL-6), and TNF-alpha (TNFα), which ...
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https://en.wikipedia.org/wiki/Squamous_cell_skin_cancer
disease
Squamous cell skin cancer
Squamous-cell skin cancer, also known as cutaneous squamous-cell carcinoma (cSCC), is one of the main types of skin cancer along with basal cell cancer, and melanoma. It usually presents as a hard lump with a scaly top but can also form an ulcer. Onset is often over months. Squamous-cell skin cancer is more likely to s...
SCC of the skin begins as a small nodule and as it enlarges the center becomes necrotic and sloughs and the nodule turns into an ulcer. - The lesion caused by SCC is often asymptomatic - Ulcer or reddish skin plaque that is slow growing - Intermittent bleeding from the tumor, especially on the lip - The clinical appear...
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https://en.wikipedia.org/wiki/Necrobiosis_lipoidica
disease
Necrobiosis lipoidica
Necrobiosis lipoidica is a necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis. In the former case it may be called necrobiosis lipoidica diabeticorum (NLD). NLD occurs in approximately 0.3% of the diabetic population, with the majority ...
NL/NLD most frequently appears on the patient's shins, often on both legs, although it may also occur on forearms, hands, trunk, and, rarely, nipple, penis, and surgical sites. The lesions are often asymptomatic but may become tender and ulcerate when injured. The first symptom of NL is often a "bruised" appearance (er...
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https://en.wikipedia.org/wiki/Paraphimosis
disease
Paraphimosis
Paraphimosis is an uncommon medical condition in which the foreskin of a penis becomes trapped behind the glans penis, and cannot be reduced (pulled back to its normal flaccid position covering the glans). If this condition persists for several hours or there is any sign of a lack of blood flow, paraphimosis should be ...
Paraphimosis is usually caused by medical professionals or parents who handle the foreskin improperly: The foreskin may be retracted during penile examination, penile cleaning, urethral catheterization, or cystoscopy; if the foreskin is left retracted for a long period, some of the foreskin tissue may become edematous ...
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https://en.wikipedia.org/wiki/Auto-brewery_syndrome
disease
Auto-brewery syndrome
Auto-brewery syndrome, also known as gut fermentation syndrome, is a rare medical condition in which intoxicating quantities of ethanol are produced through endogenous fermentation within the digestive system. One gastrointestinal organism, Saccharomyces cerevisiae, a type of yeast, has been identified as a pathogen fo...
The effects of the disease can have profound effects on everyday life. As well, the recurring side effects of excessive belching, dizziness, dry mouth, hangovers, disorientation, irritable bowel syndrome, and chronic fatigue syndrome can lead to other health problems such as depression, anxiety and poor productivity in...
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https://en.wikipedia.org/wiki/Oral_candidiasis
disease
Oral candidiasis
Oral candidiasis, also known as oral thrush among other names, is candidiasis that occurs in the mouth. That is, oral candidiasis is a mycosis (yeast/fungal infection) of Candida species on the mucous membranes of the mouth. Candida albicans is the most commonly implicated organism in this condition. C. albicans is car...
Oral candidiasis is a mycosis (fungal infection). Traditionally, oral candidiasis is classified using the Lehner system, originally described in the 1960s, into acute and chronic forms (see table). Some of the subtypes almost always occur as acute (e.g., acute pseudomembranous candidiasis), and others chronic. However,...
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https://en.wikipedia.org/wiki/Thyroid_lymphoma
disease
Thyroid lymphoma
Thyroid lymphoma is a rare malignant tumor constituting 1% to 2% of all thyroid malignancies and less than 2% of lymphomas. Thyroid lymphomas are classified as non–Hodgkin's B-cell lymphomas in a majority of cases, although Hodgkin's lymphoma of the thyroid has also been identified.
The majority of thyroid lymphomas are non–Hodgkin's B-cell lymphomas; the rest exhibit properties of T-cell lymphomas . - Diffuse large B-cell lymphoma with marginal zone - Diffuse large B-cell lymphoma without marginal zone - Marginal zone В-cell lymphoma of mucosa-associated lymphoid tissue (MALT) - Follicular lympho...
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https://en.wikipedia.org/wiki/Persistent_cloaca
disease
Persistent cloaca
A persistent cloaca is a symptom of a complex anorectal congenital disorder, in which the rectum, vagina, and urinary tract meet and fuse, creating a cloaca, a single common channel.
Diagnosis of a female with cloaca should be suspected in a female born with an imperforate anus and small looking genitalia. The diagnosis can be made clinically. Failure to identify a cloaca as being present in a newborn may be dangerous, as more than 90% have associated urological problems. The goal for treatment of ...
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https://en.wikipedia.org/wiki/Cephalic_disorder
disease
Cephalic disorder
Cephalic disorders (from the Greek word κεφάλι, meaning "head") are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Cephalic means "head" or "head end of the body." Cephalic disorders are not necessarily caused by a single factor, but may be influenced by heredita...
Where known, the ICD-10 code is listed below. - Anencephaly (Q00.0) - Colpocephaly (ICD10 unknown) - Holoprosencephaly (Q04.2) - Ethmocephaly (ICD10 unknown) - Hydranencephaly (Q04.3) - Iniencephaly (Q00.2) - Lissencephaly (Q04.3) - Megalencephaly (Q04.5) - Microcephaly (Q02) - Porencephaly (Q04.6) - Schizencephaly (Q0...
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https://en.wikipedia.org/wiki/Creatine_transporter_defect
disease
Creatine transporter defect
Creatine transporter defect (CTD) is an inborn error of creatine metabolism in which creatine is not properly transported to the brain and muscles due to defective creatine transporters. CTD is an X-linked disorder caused by mutations in the SLC6A8 gene. The SLC6A8 gene is located on the short arm of the sex chromosome...
Generally, the majority of individuals with creatine transporter defect express the following symptoms with varying levels of severity: developmental delay and regression, mental retardation, and abnormalities in expressive and cognitive speech. However, several studies have shown a wider variety of symptoms including,...
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https://en.wikipedia.org/wiki/Muenke_syndrome
disease
Muenke syndrome
Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. First described by Maximilian Muenke, the syndrome occurs in about 1 in 30,000 newborns. Thi...
Many people with this disorder have a premature fusion of skull bones along the coronal suture. Not every case has had craniosynostosis however. Other parts of the skull may be malformed as well. This will usually cause an abnormally shaped head, wide-set eyes, low set ears and flattened cheekbones in these patients. A...
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https://en.wikipedia.org/wiki/Taijin_kyofusho
disease
Taijin kyofusho
Taijin kyofusho (対人恐怖症 taijin kyōfushō, TKS, for taijin kyofusho symptoms) is a Japanese culture-specific syndrome. The term taijin kyofusho translates into the disorder (sho) of fear (kyofu) of interpersonal relations (taijin). Those who have taijin kyofusho are likely to be extremely embarrassed of themselves or fear...
Taijin kyofusho is commonly described as a form of social anxiety (social phobia), with the person dreading and avoiding social contact, and as a subtype of shinkeishitsu (anxiety disorder). However, instead of a fear of embarrassing themselves or being harshly judged by others because of their social ineptness, suffer...
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https://en.wikipedia.org/wiki/Clavicle_fracture
disease
Clavicle fracture
A clavicle fracture, also known as a broken collarbone, is a bone fracture of the clavicle. Symptoms typically include pain at the site of the break and a decreased ability to move the affected arm. Complications can include a collection of air in the pleural space surrounding the lung (pneumothorax), injury to the ner...
Clavicle fractures are commonly known as a breaking of the collarbone, and they are usually a result of injury or trauma. The most common type of fracture occurs when a person falls horizontally on the shoulder or with an outstretched hand. A direct hit to the collarbone can also cause a break. In most cases, the direc...
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https://en.wikipedia.org/wiki/Uterine_fibroid
disease
Uterine fibroid
Uterine fibroids, also known as uterine leiomyomas or fibroids, are benign smooth muscle tumors of the uterus. Most women have no symptoms while others may have painful or heavy periods. If large enough, they may push on the bladder causing a frequent need to urinate. They may also cause pain during sex or lower back p...
Some women with uterine fibroids do not have symptoms. Abdominal pain, anemia and increased bleeding can indicate the presence of fibroids. There may also be pain during intercourse, depending on the location of the fibroid. During pregnancy, they may also be the cause of miscarriage, bleeding, premature labor, or inte...
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https://en.wikipedia.org/wiki/Paroxysmal_extreme_pain_disorder
disease
Paroxysmal extreme pain disorder
Paroxysmal extreme pain disorder (PEPD), originally named familial rectal pain syndrome, is a rare disorder whose most notable features are pain in the mandibular, ocular and rectal areas as well as flushing. PEPD often first manifests at the beginning of life, perhaps even in utero, with symptoms persisting throughout...
The most distinctive feature of PEPD is episodic burning pain of the rectum, ocular, and mandibular regions. It should be stressed that while pain often originates or is centered in these areas it can also spread or be diffuse in nature. Pain experienced by patients with this disorder should not be underestimated as wo...
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https://en.wikipedia.org/wiki/Seminoma
disease
Seminoma
Seminoma (also known as pure seminoma or classical seminoma) is a germ cell tumor of the testicle or, more rarely, the mediastinum or other extra-gonadal locations. It is a malignant neoplasm and is one of the most treatable and curable cancers, with a survival rate above 95% if discovered in early stages. Testicular s...
The average age of diagnosis is between 15 and 35 years. This is about 5 to 10 years older than men with other germ cell tumors of the testes. In most cases, they produce masses that are readily felt on testicular self-examination; however, in up to 11 percent of cases, there may be no mass able to be felt, or there ma...
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https://en.wikipedia.org/wiki/Dactylitis
disease
Dactylitis
Dactylitis or sausage digit is inflammation of an entire digit (a finger or toe), and can be painful. The word dactyl comes from the Greek word "daktylos" meaning "finger". In its medical term, it refers to both the fingers and the toes.
Dactylitis can occur in seronegative arthropathies, such as psoriatic arthritis and ankylosing spondylitis, and in sickle-cell disease as result of a vasoocclusive crisis with bone infarcts, and in infectious conditions including tuberculosis and leprosy. In reactive arthritis, sausage fingers occur due to synovitis. I...
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https://en.wikipedia.org/wiki/Neuromyelitis_optica
disease
Neuromyelitis optica
Neuromyelitis optica (NMO), also known as Devic's disease or Devic's syndrome, is a heterogeneous condition consisting of the simultaneous inflammation and demyelination of the optic nerve (optic neuritis) and the spinal cord (myelitis). It can be monophasic or recurrent. Currently at least two different causes are pro...
The main symptoms of Devic's disease are loss of vision and spinal cord function. Optic neuritis may manifest as visual impairment with decreased visual acuity, although visual field defects, or loss of color vision may occur in isolation or prior to formal loss of acuity. Spinal cord dysfunction can lead to muscle wea...
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https://en.wikipedia.org/wiki/Niemann–Pick_disease,_type_C
disease
Niemann–Pick disease, type C
Niemann–Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick type C affects an estimated 1:150,000 people. Approximately 50% of cases present before 10 years of age, but manifestations may first be recognized as late as the sixth decade.
Niemann–Pick type C has a wide clinical spectrum. Affected individuals may have enlargement of the spleen (splenomegaly) and liver (hepatomegaly), or enlarged spleen or liver combined (hepatosplenomegaly), but this finding may be absent in later onset cases. Prolonged jaundice or elevated bilirubin can present at birth...
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https://en.wikipedia.org/wiki/Primary_aldosteronism
disease
Primary aldosteronism
Primary aldosteronism, also known as primary hyperaldosteronism or Conn's syndrome, is excess production of the hormone aldosterone by the adrenal glands resulting in low renin levels. Often it produces few symptoms. Most people have high blood pressure which may cause poor vision or headaches. Occasionally there may b...
People often have few or no symptoms. They may get occasional muscular weakness, muscle spasms, tingling sensations, or excessive urination. High blood pressure, manifestations of muscle cramps (due to hyperexcitability of neurons secondary to low blood calcium), muscle weakness (due to hypoexcitability of skeletal mus...
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https://en.wikipedia.org/wiki/Amusia
disease
Amusia
Amusia is a musical disorder that appears mainly as a defect in processing pitch but also encompasses musical memory and recognition. Two main classifications of amusia exist: acquired amusia, which occurs as a result of brain damage, and congenital amusia, which results from a music-processing anomaly present since bi...
Neurologically intact individuals appear to be born musical. Even before they are able to talk, infants show remarkable musical abilities that are similar to those of adults in that they are sensitive to musical scales and a regular tempo. Also, infants are able to differentiate between consonant and dissonant interval...
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https://en.wikipedia.org/wiki/Supernumerary_body_part
disease
Supernumerary body part
Supernumerary body parts are most commonly a congenital disorder involving the growth of an additional part of the body and a deviation from the body plan. Body parts may be easily visible or hidden away, such as internal organs. Many additional body parts form by the same process as conjoined twins: the zygote begins ...
Specific types of additional body parts include: - Accessory breast – one or more additional breasts - Accessory spleen – one or more additional spleens - Cervical rib – an additional rib - Diphallia - Having two penes/penises. - Hermaphroditism – having both sexes' sex organs - Hyperdontia – additional teeth - Pelvic ...
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https://en.wikipedia.org/wiki/Nail_disease
disease
Nail disease
A nail disease or onychosis is a disease or deformity of the nail. Although the nail is a structure produced by the skin and is a skin appendage, nail diseases have a distinct classification as they have their own signs and symptoms which may relate to other medical conditions. Some nail conditions that show signs of i...
Nail inspection can give hints to the internal condition of the body as well. Nail disease can be very subtle and should be evaluated by a dermatologist with a focus in this particular area of medicine. A nail technician may be the first to note a subtle change in nail health. In approximately half of suspected nail f...
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https://en.wikipedia.org/wiki/Korsakoff's_syndrome
disease
Korsakoff's syndrome
Korsakoff's syndrome is an amnestic disorder caused by thiamine deficiency usually associated prolonged ingestion of alcohol. It is rare among other people but some cases have been observed after bariatric surgeries, when deficiency was not prevented by use of nutritional supplements. This neurological disorder is caus...
There are seven major symptoms of Korsakoff's syndrome (amnestic-confabulatory syndrome): 1. anterograde amnesia, memory loss for events after the onset of the syndrome 2. retrograde amnesia, memory loss extends back for some time before the onset of the syndrome 3. amnesia of fixation, also known as fixation amnesia (...
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https://en.wikipedia.org/wiki/Lymphatic_filariasis
disease
Lymphatic filariasis
Lymphatic filariasis, also known as elephantiasis, is a human disease caused by parasitic worms known as filarial worms. Most cases of the disease have no symptoms. Some people, however, develop a syndrome called elephantiasis, which is marked by severe swelling in the arms, legs, breasts, or genitals. The skin may bec...
The most spectacular symptom of lymphatic filariasis is elephantiasis, a stage 3 lymphedema with thickening of the skin and underlying tissues. This was the first mosquito-borne disease to be discovered. Elephantiasis results when the parasites lodge in the lymphatic system and cause blockages to the flow of lymph. Inf...
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https://en.wikipedia.org/wiki/Normal_pressure_hydrocephalus
disease
Normal pressure hydrocephalus
Normal pressure hydrocephalus (NPH), also termed Hakim's syndrome and symptomatic hydrocephalus, is a type of brain malfunction caused by expansion of the lateral cerebral ventricles and distortion of the fibers in the corona radiata. Its typical symptoms are urinary incontinence, dementia, and gait disturbance. CSF pr...
NPH may exhibit a classic triad of clinical findings (known as the Adams triad or Hakim's triad) of urinary incontinence, gait disturbance, and dementia (commonly referred to as "wet, wacky and wobbly" or "weird walking water"). - Gait disturbance is typically the initial and most prominent symptom of the triad and may...
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https://en.wikipedia.org/wiki/Distal_18q-
disease
Distal 18q-
Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18.
Distal 18q- causes a wide range of medical and developmental concerns, with significant variation in severity due to the variation in breakpoints reported in individuals with distal 18q-. Current research is focused on establishing genotype-phenotype correlations to enable predictive genotyping. Heart abnormalities ar...
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https://en.wikipedia.org/wiki/Shot_hole_disease
disease
Shot hole disease
Shot hole disease (also called Coryneum blight) is a serious fungal disease that creates BB-sized holes in leaves, rough areas on fruit, and concentric lesions on branches. The pathogen that causes shot hole disease is Wilsonomyces carpophilus.
The fungal pathogen Wilsonomyces carpophilus affects members of the Prunus genera. Almond, apricot, nectarine, peach, prune and cherry trees can be affected. Both edible and ornamental varieties are vulnerable to infection. Shot hole disease produces small (1/10-1/4”) reddish or purplish-brown spots. There may be a lig...
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https://en.wikipedia.org/wiki/Langer_mesomelic_dysplasia
disease
Langer mesomelic dysplasia
Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone formation that causes a severe short and disproportionate stature.
It's part of the mesomelic and rhizomelic skeletal dysplasias, primary bone diseases in which the short stature is due to a lack of complete bone development of the limb's long bones. It's strictly related to another disease, the Léri–Weill dyschondrosteosis, of which it seems to be the homozygothic variant, clinically...
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https://en.wikipedia.org/wiki/Bing–Neel_syndrome
disease
Bing–Neel syndrome
Bing–Neel syndrome (BNS) is an extremely rare neurologic complication of Waldenström macroglobulinemia (WM), which is a chronic lymphoproliferative disorder. There's no clear definition of BNS but what is known so far is that unlike WM, It involves the central nervous system (CNS), infiltrated by differentiated maligna...
Symptoms of BNS gradually progress over the span of a week or even a month, and there is typically a delay in diagnosis after the initial symptoms arise. Although BNS arises due to complications from WM, some individuals may experience symptoms of BNS without having a past history of WM. Given that BNS is so rare, the ...
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https://en.wikipedia.org/wiki/Bartholin's_cyst
disease
Bartholin's cyst
A Bartholin's cyst occurs when a Bartholin's gland is blocked and the gland becomes inflamed. Sizes range from that of a pea to that of an egg and form just within each side of the lower part of the opening of the vagina. An abscess may form if the cyst becomes infected. In this case it often becomes red and painful wh...
Most Bartholin's cysts do not cause any symptoms, although some may cause pain during walking, sitting, or sexual intercourse (dyspareunia). They are usually between 1 and 4 cm, and are located just medial to the labia minora. Most Bartholin's cysts only affect the left or the right side (unilateral). Small cysts are u...
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https://en.wikipedia.org/wiki/Retrograde_amnesia
disease
Retrograde amnesia
Retrograde amnesia (RA) is a loss of memory-access to events that occurred, or information that was learned, before an injury or the onset of a disease. It tends to negatively affect episodic, autobiographical, and declarative memory while usually keeping procedural memory intact with no difficulty for learning new kno...
The most commonly affected areas are associated with episodic and declarative memory such as the hippocampus, the diencephalon, and the temporal lobes. - The hippocampus deals largely with memory consolidation, where information from the working memory and short-term memory is encoded into long-term storage for future ...
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https://en.wikipedia.org/wiki/Iron_overload
disease
Iron overload
Iron overload, also known as haemochromatosis, indicates accumulation of iron in the body from any cause. The most important causes are hereditary haemochromatosis (HHC), a genetic disorder, and transfusional iron overload, which can result from repeated blood transfusions.
Organs commonly affected by haemochromatosis are the liver, heart, and endocrine glands. Haemochromatosis may present with the following clinical syndromes: - Cirrhosis of the liver: Varies from zonal iron deposition to fibrosis (cirrhosis). - Diabetes due to selective iron deposition in pancreatic islet beta cells lea...
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https://en.wikipedia.org/wiki/Anaplastic_astrocytoma
disease
Anaplastic astrocytoma
Anaplastic astrocytoma is a rare WHO grade III type of astrocytoma, which is a type of cancer of the brain. In the United States, the annual incidence rate for Anaplastic astrocytoma is 0.44 per 100,000 persons
Anaplastic astrocytomas fall under the category of high grade gliomas (WHO grade III-IV), which are pathologically undifferentiated gliomas that carry a poor clinical prognosis. Unlike glioblastomas (WHO grade IV), anaplastic astrocytomas lack vascular proliferation and necrosis on pathologic evaluation. Compared to gr...
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https://en.wikipedia.org/wiki/Riedel's_thyroiditis
disease
Riedel's thyroiditis
Riedel's thyroiditis, also called Riedel's struma is a chronic form of thyroiditis. It is now believed that Riedel's thyroiditis is one manifestation of a systemic disease that can affect many organ systems called IgG4-related disease. It is often a multi-organ disease affecting pancreas, liver, kidney, salivary and or...
Riedel's thyroiditis is characterized by a replacement of the normal thyroid parenchyma by a dense fibrosis that invades adjacent structures of the neck and extends beyond the thyroid capsule. This makes the thyroid gland stone-hard (woody) and fixed to adjacent structures. The inflammatory process infiltrates muscles ...
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https://en.wikipedia.org/wiki/MOMO_syndrome
disease
MOMO syndrome
MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only six cases around the world, and occurs in 1 in 100 million births. The name is an acronym of the four primary aspects of the disorder: Macrosomia (excessive birth weight), Obesity, Macrocephaly (...
Along with the four aspects of the disorder that give it its name, there are also other common symptoms: - A downward slant of the forehead - Delayed bone maturation - Mental retardation The ocular abnormalities are generally retinal coloboma and nystagmus. Because MOMO is such a rare disorder, very few studies have be...
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https://en.wikipedia.org/wiki/T-cell_lymphoma
disease
T-cell lymphoma
The T-cell lymphomas are four types of lymphoma that affect T cells. These account for about one in ten cases of non-Hodgkin lymphoma. They can be associated with Epstein Barr virus and Human T-cell leukemia virus-1.
The four classes are: - Extranodal T cell lymphoma - Cutaneous T cell lymphomas: Sézary syndrome and Mycosis fungoides - Anaplastic large cell lymphoma - Angioimmunoblastic T cell lymphoma More information on various classification schemes is in the main lymphoma article. Of all cancers involving the same class of bloo...
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https://en.wikipedia.org/wiki/Nasolacrimal_duct_obstruction
disease
Nasolacrimal duct obstruction
Nasolacrimal duct obstruction (NLDO) is the obstruction of nasolacrimal duct and may be either congenital or acquired. Obstruction of the nasolacrimal duct leads to the excess overflow of tears called epiphora.
Excessive tearing is the most common complaint of patients with NLDO, followed by acute or chronic infections. Pain at the side of the nose suggests dacryocystitis. NLDO is found to be more common with increasing age and more common in females. Involutional stenosis is probably the most common cause of NLD obstruction ...
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https://en.wikipedia.org/wiki/Gastroesophageal_reflux_disease
disease
Gastroesophageal reflux disease
Gastroesophageal reflux disease (GERD), also known as acid reflux, is a long-term condition where stomach contents come back up into the esophagus resulting in either symptoms or complications. Symptoms include the taste of acid in the back of the mouth, heartburn, bad breath, chest pain, vomiting, breathing problems, ...
The most common symptoms of GERD in adults are an acidic taste in the mouth, regurgitation, and heartburn. Less common symptoms include pain with swallowing/sore throat, increased salivation (also known as water brash), nausea, chest pain, and coughing. GERD sometimes causes injury of the esophagus. These injuries may ...
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https://en.wikipedia.org/wiki/Trench_foot
disease
Trench foot
Trench foot is a medical condition caused by prolonged exposure of the feet to damp, unsanitary, and cold conditions. It is one of many immersion foot syndromes. The use of the word trench in the name of this condition is a reference to trench warfare, mainly associated with World War I, which started in 1914.
Affected feet may become numb, by erythema (turning red) or cyanosis (turning blue) as a result of poor blood supply, and may begin emanating a decaying odor if the early stages of necrosis (tissue death) set in. As the condition worsens, feet may also begin to swell. Advanced trench foot often involves blisters and op...
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https://en.wikipedia.org/wiki/Thrombocytopenia
disease
Thrombocytopenia
Thrombocytopenia is a condition characterized by abnormally low levels of thrombocytes, also known as platelets, in the blood. A normal human platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. These limits are determined by the 2.5th lower and upper percentile, so values outside this range...
Thrombocytopenia usually has no symptoms and is picked up on a routine full blood count (or complete blood count). Some individuals with thrombocytopenia may experience external bleeding such as nosebleeds, and/or bleeding gums. Some women may have heavier or longer periods or breakthrough bleeding. Bruising, particula...
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https://en.wikipedia.org/wiki/Keratoacanthoma
disease
Keratoacanthoma
Keratoacanthoma (KA) is a common low-grade (unlikely to metastasize or invade) skin tumour that is believed to originate from the neck of the hair follicle. The defining characteristic of KA is that it is dome-shaped, symmetrical, surrounded by a smooth wall of inflamed skin, and capped with keratin scales and debris. ...
Keratoacanthomas (molluscum sebaceum) may be divided into the following types: - Giant keratoacanthomas are a variant of keratoacanthoma, which may reach dimensions of several centimeters. - Keratoacanthoma centrifugum marginatum is a cutaneous condition, a variant of keratoacanthomas, which is characterized by multip...
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https://en.wikipedia.org/wiki/Dubowitz_syndrome
disease
Dubowitz syndrome
Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin. Symptoms vary among patients, but other characteristics include a soft, high-pitched voice; partial webbing of the fingers and toes; palate deformations; genital abnormalities; language difficulties; and an ...
Microcephaly is a characteristic in which the circumference of the head is smaller than normal due to improper development of the brain. It is caused by genetic disorders, infections, radiation, medications or alcohol abuse during pregnancy. Defects in the growth of the cerebral cortex lead to many of the features asso...
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https://en.wikipedia.org/wiki/Raspberry_spur_blight
disease
Raspberry spur blight
Raspberry Spur Blight is caused by the fungus Didymella applanata. This plant pathogen is most problematic on red raspberries (Rubus idaeus) than on black or purple raspberries. The fungus infects the leaves first and then spreads to the cane. It causes necrotic spots on the cane near the base of the petiole attachment...
In the late summer, the bark of infected areas split and the lesions produce fruiting bodies called pycnidia. Pycnidia appear as small black dots to the naked eye and can be seen as flask-shaped structures under a microscope. Perithecia, another fruiting body, forms after the pycnidia. Perithecia appear as medium, blac...
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https://en.wikipedia.org/wiki/Aspergillosis
disease
Aspergillosis
Aspergillosis is the name given to a wide variety of diseases caused by infection by fungi of the genus Aspergillus. The majority of cases occur in people with underlying illnesses such as tuberculosis or chronic obstructive pulmonary disease (COPD), but with otherwise healthy immune systems. Most commonly, aspergillos...
A fungus ball in the lungs may cause no symptoms and may be discovered only with a chest X-ray, or it may cause repeated coughing up of blood, chest pain, and occasionally severe, even fatal, bleeding. A rapidly invasive Aspergillus infection in the lungs often causes cough, fever, chest pain, and difficulty breathing....
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https://en.wikipedia.org/wiki/Lymphangioma
disease
Lymphangioma
Lymphangiomas are malformations of the lymphatic system characterized by lesions that are thin-walled cysts; these cysts can be macroscopic, as in a cystic hygroma, or microscopic. The lymphatic system is the network of vessels responsible for returning to the venous system excess fluid from tissues as well as the lymp...
Lymphangiomas have traditionally been classified into three subtypes: capillary and cavernous lymphangiomas and cystic hygroma. This classification is based on their microscopic characteristics. A fourth subtype, the hemangiolymphangioma is also recognized. - Capillary lymphangiomas - Cavernous lymphangiomas - Cystic h...
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https://en.wikipedia.org/wiki/Lichen_nitidus
disease
Lichen nitidus
Lichen nitidus is a chronic inflammatory disease of unknown cause characterized by 1–2 mm, discrete and uniform, shiny, flat-topped, pale flesh-colored or reddish-brown papules that may appear as hypopigmented against dark skin. Occasionally, minimal scaling is present or can be induced by rubbing the surface of the pa...
Linear arrangements of these papules is common (referred to as a Koebner phenomenon), especially on the forearms, but may occasionally be grouped, though not confluent, on flexural areas. Generally, the initial lesions are localized, and remain so, to the chest, abdomen, glans penis, and flexor aspects of the upper ext...
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https://en.wikipedia.org/wiki/Chronic_sclerosing_sialadenitis
disease
Chronic sclerosing sialadenitis
Chronic sclerosing sialadenitis is a chronic (long-lasting) inflammatory condition affecting the salivary gland. Relatively rare in occurrence, this condition is benign, but presents as hard, indurated and enlarged masses that are clinically indistinguishable from salivary gland neoplasms or tumors. It is now regarded ...
The inflammatory lesions in Küttner's tumor may occur on one side (unilateral) or both sides (bilateral), predominantly involving the submandibular gland, but is also known to occur in other major and minor salivary glands, including the parotid gland. Overall, salivary gland tumors are relatively rare, with approximat...
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https://en.wikipedia.org/wiki/Blepharitis
disease
Blepharitis
Different variations of blepharitis can be classified as seborrheic, staphylococcal, mixed, posterior or meibomitis, or parasitic. In a survey of US ophthalmologists and optometrists, 37% to 47% of patients seen by those surveyed had signs of blepharitis, which can affect all ages and ethnic groups. One single-center s...
Blepharitis is characterized by chronic inflammation of the eyelid, usually at the base of the eyelashes. Symptoms include inflammation, irritation, itchiness, a burning sensation, excessive tearing, and crusting and sticking of eyelids. Additional symptoms may include visual impairment such as photophobia and blurred ...
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https://en.wikipedia.org/wiki/Pes_anserine_bursitis
disease
Pes anserine bursitis
Pes anserine bursitis is an inflammatory condition of the medial (inner) knee at the anserine bursa, a sub muscular bursa, just below the pes anserinus.
The pes anserinus is the insertion of the conjoined tendons sartorius, gracilis, and semitendinosus into the anteromedial proximal tibia. Theoretically, bursitis results from stress to this area (e.g. stress may result when an obese individual with anatomic deformity from arthritis ascends or descends stairs). An occur...
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https://en.wikipedia.org/wiki/Ménétrier's_disease
disease
Ménétrier's disease
Ménétrier disease (also known as hypoproteinemic hypertrophic gastropathy; named after a French physician Pierre Eugène Ménétrier, 1859–1935), is a rare, acquired, premalignant disease of the stomach characterized by massive gastric folds, excessive mucous production with resultant protein loss, and little or no acid p...
Individuals with the disease present with upper abdominal pain (epigastric), at times accompanied by nausea, vomiting, loss of appetite, edema, and weight loss. A small amount of gastrointestinal bleeding may occur, which is typically due to superficial mucosal erosions; large volume bleeding is rare. 20% to 100% of pa...
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https://en.wikipedia.org/wiki/XY_gonadal_dysgenesis
disease
XY gonadal dysgenesis
Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is 46,XY. The person is externally female with streak gonads, and if left untreated, will not experience puberty. Such gonads are typically surgically removed (as they have a significant risk of developing tumors) and a typi...
There are several forms of gonadal dysgenesis. The term “pure gonadal dysgenesis” (PGD) has been used to describe conditions with normal sets of sex chromosomes (e.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. The latter group includes t...
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https://en.wikipedia.org/wiki/Anthrax
disease
Anthrax
Anthrax is an infection caused by the bacterium Bacillus anthracis. It can occur in four forms: skin, lungs, intestinal, and injection. Symptoms begin between one day and two months after the infection is contracted. The skin form presents with a small blister with surrounding swelling that often turns into a painless ...
Cutaneous anthrax, also known as Hide porter's disease, is when anthrax occurs on the skin. It is the most common form (>90% of anthrax cases). Cutaneous anthrax is also the least dangerous form of anthrax (less than 1% mortality rate with treatment). Cutaneous anthrax presents as a boil-like skin lesion that eventuall...
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https://en.wikipedia.org/wiki/Vein_of_Galen_aneurysmal_malformations
disease
Vein of Galen aneurysmal malformations
Vein of Galen aneurysmal malformations (VGAM) and Vein of Galen aneurysmal dilations (VGAD) are the most frequent arteriovenous malformations in infants and fetuses. VGAM consist of a tangled mass of dilated vessels supplied by an enlarged artery. The malformation increases greatly in size with age, although the mechan...
Malformations often lead to cardiac failure, cranial bruits (pattern 1), hydrocephaly, and subarachnoid hemorrhage in neonates. The heart failure is due to the size of the arteriovenous shunt that can steal 80% or more of the cardiac output, with large volumes of blood under high pressure returning to the right heart a...
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https://en.wikipedia.org/wiki/Dysbaric_osteonecrosis
disease
Dysbaric osteonecrosis
ischemic bone disease caused by decompression bubbles Dysbaric osteonecrosis or DON is a form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism (blockage of the blood vessels by a bubble of nitrogen coming out of solution) in divers. Although the defi...
The diagnosis is made by x-ray/MRI appearance and has five juxta-articular classifications and forehead, neck, and shaft classifications indicating early radiological signs. Early on there is flattening of articular surfaces, thinning of cartilage with osteophyte (spur) formation. In juxta-articular lesions without sym...
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https://en.wikipedia.org/wiki/Stargardt_disease
disease
Stargardt disease
Stargardt disease, or fundus flavimaculatus, is the most frequent form of inherited juvenile macular degeneration. Stargardt causes progressive vision loss usually to the point of legal blindness. Several genes are associated with the disorder. Symptoms, mainly central vision loss, typically develop before age 20 (medi...
Patients with Stargardt disease usually develop symptoms in the mid-first to the late second decade of life, with age of onset which can be as early as ~6 years of age. The main symptom of Stargardt disease is loss of visual acuity, uncorrectable with glasses, which progresses and frequently stabilizes between 20/200 a...
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https://en.wikipedia.org/wiki/Kabuki_syndrome
disease
Kabuki syndrome
Kabuki syndrome (also previously known as kabuki makeup syndrome, KMS or Niikawa–Kuroki Syndrome), is a pediatric congenital disorder of suspected genetic origin with multiple congenital anomalies and intellectual disabilities. It is quite rare, affecting roughly one in 32,000 births. It was identified and described in...
There is a wide range of congenital problems associated with kabuki syndrome with large differences between affected individuals. Some of the common problems are heart defects, urinary tract anomalies, hearing loss, hypotonia, recurrent ear infections and postnatal growth deficiency. Other characteristics include skele...
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https://en.wikipedia.org/wiki/Congenital_hearing_loss
disease
Congenital hearing loss
Congenital hearing loss is a hearing loss present at birth. It can include hereditary hearing loss or hearing loss due to other factors present either in-utero (prenatal) or at the time of birth.
Genetic factors are thought to cause more than 50% of all incidents of congenital hearing loss. Genetic hearing loss may be autosomal dominant, autosomal recessive, or X-linked (related to the sex chromosome). In autosomal dominant hearing loss, one parent who carries the dominant gene for hearing loss and typically ha...
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https://en.wikipedia.org/wiki/Fasciolosis
disease
Fasciolosis
Fasciolosis (also known as fascioliasis, fasciolasis, distomatosis and liver rot) is a parasitic worm infection caused by the common liver fluke Fasciola hepatica as well as by Fasciola gigantica. The disease is a plant-borne trematode zoonosis, and is classified as a neglected tropical disease (NTD). It affects humans...
The course of fasciolosis in humans has 4 main phases: - Incubation phase: from the ingestion of metacercariae to the appearance of the first symptoms; time period: few days to 3 months; depends on number of ingested metacercariae and immune status of host - Invasive or acute phase: fluke migration up to the bile duct...
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https://en.wikipedia.org/wiki/Salivary_gland_pathology
disease
Salivary gland pathology
Salivary gland diseases (SGD) are multiple and varied in cause. There are 3 paired major salivary glands in humans (the parotid gland, the submandibular gland, and the sublingual gland), as well as about 800-1000 minor salivary glands in the oral mucosa of the mouth. The parotid gland is located in front of the ear, an...
Congenital disorders of the salivary glands are rare, but may include: - Aplasia - Atresia - Ectopic salivary gland tissue - Stafne defect - an uncommon condition which some consider to be an anatomic variant rather than a true disease. It is thought to be created by an ectopic portion of salivary gland tissue which ca...
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https://en.wikipedia.org/wiki/Gender_dysphoria
disease
Gender dysphoria
Gender dysphoria (GD), or gender identity disorder (GID), is the distress a person experiences as a result of the sex and gender they were assigned at birth. In this case, the assigned sex and gender do not match the person's gender identity, and the person is transgender. There is evidence suggesting that twins who id...
Symptoms of GD in children may include any of the following: disgust at their own genitalia, social isolation from their peers, anxiety, loneliness and depression. According to the American Psychological Association, transgender children are more likely to experience harassment and violence in school, foster care, resi...
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https://en.wikipedia.org/wiki/Simultanagnosia
disease
Simultanagnosia
Simultanagnosia (or simultagnosia) is a rare neurological disorder characterized by the inability of an individual to perceive more than a single object at a time. This type of visual attention problem is one of three major components (the others being optic ataxia and optic apraxia) of Bálint's syndrome, an uncommon a...
Patients with simultanagnosia, a component of Bálint's syndrome, have a restricted spatial window of visual attention and cannot see more than one object at a time in a scene that contains more than one object. For instance, if presented with an image of a table containing both food and various utensils, a patient will...
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https://en.wikipedia.org/wiki/Neonatal-onset_multisystem_inflammatory_disease
disease
Neonatal-onset multisystem inflammatory disease
Neonatal-onset multisystem inflammatory disease (abbreviated NOMID, also known as chronic infantile neurologic cutaneous and articular syndrome, or CINCA) is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. Symptoms include skin ...
The age of onset is almost always before 3 months of age. Many infants are born preterm (1/3 cases) and dysmature. The babies are frequently small for dates. The placenta may be abnormal with non-specific inflammation on histology. Umbilical cord anomalies have occasionally been reported. In severe cases, signs in the ...
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https://en.wikipedia.org/wiki/Fucosidosis
disease
Fucosidosis
Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body, which leads to death. Fucosidosis is one of nine identified glycoprotein storage dise...
Fucosidosis is an autosomal recessive disorder that affects many areas of the body. Mutations in the FUCA1 gene causes fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. The enzyme plays a role in the breakdown of complex sugars in the body. The disorder is characterized b...
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https://en.wikipedia.org/wiki/Progressive_retinal_atrophy
disease
Progressive retinal atrophy
Progressive retinal atrophy (PRA) is a group of genetic diseases seen in certain breeds of dogs and, more rarely, cats. Similar to retinitis pigmentosa in humans, it is characterized by the bilateral degeneration of the retina, causing progressive vision loss culminating in blindness. The condition in nearly all breeds...
In general, PRAs are characterised by initial loss of rod photoreceptor cell function followed by that of the cones and for this reason night blindness is the first significant clinical sign for most dogs affected with PRA. As other retinal disorders, PRA can be divided into either dysplastic disease, where the cells d...
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https://en.wikipedia.org/wiki/Coccidiosis
disease
Coccidiosis
Coccidiosis is a parasitic disease of the intestinal tract of animals caused by coccidian protozoa. The disease spreads from one animal to another by contact with infected feces or ingestion of infected tissue. Diarrhea, which may become bloody in severe cases, is the primary symptom. Most animals infected with coccidi...
Puppies are frequently infected with coccidia from the feces of their mother, and are more likely to develop coccidiosis due to their undeveloped immune systems. Stress can trigger symptoms in susceptible animals. Symptoms in young dogs include diarrhea with mucus and blood, poor appetite, vomiting, and dehydration. Un...
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https://en.wikipedia.org/wiki/Brachymetatarsia
disease
Brachymetatarsia
Brachymetatarsia or hypoplastic metatarsal is a condition in which there is one or more abnormally short or overlapping toes metatarsals. This condition may result due to a congenital defect or it may be an acquired condition. It most frequently involves the fourth metatarsal. If it involves the first metatarsal, the c...
Congenital causes include: Aarskog syndrome, Albright's hereditary osteodystrophy, and Apert syndrome. Can be caused by a trauma, although the exact mechanism is not known. Symptoms may be treated by wearing wider shoes to relieve pressure, or patient can wear padding around the toes. Surgery is also an option, if the ...
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https://en.wikipedia.org/wiki/X-linked_ichthyosis
disease
X-linked ichthyosis
X-linked ichthyosis (XLI) (also known as ") is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. XLI can also occur in the context of larger deleti...
The major symptoms of XLI include scaling of the skin, particularly on the neck, trunk, and lower extremities. The extensor surfaces are typically the most severely affected areas. The >4 mm diameter scales adhere to the underlying skin and can be dark brown or gray in color. Symptoms may subside during the summer. The...
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https://en.wikipedia.org/wiki/Synovial_sarcoma
disease
Synovial sarcoma
A synovial sarcoma (also known as: malignant synovioma) is a rare form of cancer which occurs primarily in the extremities of the arms or legs, often in close proximity to joint capsules and tendon sheaths. As one of the soft tissue sarcomas, it is one of the rarest forms of soft tissue cancer. The name "synovial sarco...
Synovial sarcoma usually presents with an otherwise asymptomatic swelling or mass, although general symptoms related to malignancies can be reported such as fatigue. The diagnosis of synovial sarcoma is typically made based on histology and is confirmed by the presence of t(X;18) chromosomal translocation. Two cell typ...
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https://en.wikipedia.org/wiki/Köhler_disease
disease
Köhler disease
Köhler disease (also spelled "Kohler" and referred to in some texts as Kohler disease I) is a rare bone disorder of the foot found in children between six and nine years of age. The disease typically affects boys, but it can also affect girls. It was first described in 1908 by Alban Köhler (1874–1947), a German radiolo...
Sufferers experience pain and swelling in the middle part of the foot and usually limp as a result. Patients that walk with a limp tend to walk with increased weight on the lateral side of the foot. Also, there can be tenderness over the navicular. Patients often complain of pain over the apex. An X-ray of both feet is...
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https://en.wikipedia.org/wiki/Anterior_compartment_syndrome
disease
Anterior compartment syndrome
A compartment syndrome is an increased pressure within a muscular compartment that compromises the circulation to the muscles.
Diffuse tightness and tenderness over the entire belly of the tibialis anterior that does not respond to elevation or pain medication can be early warning signs and suggestive of Anterior Compartment Syndrome. Other common symptoms include excessive swelling that causes the skin to become hot, stretched and glossy. Pai...
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https://en.wikipedia.org/wiki/Leydig_cell_tumour
disease
Leydig cell tumour
Leydig cell tumour, also Leydig cell tumor (US spelling), (testicular) interstitial cell tumour and (testicular) interstitial cell tumor (US spelling), is a member of the sex cord-stromal tumour group of ovarian and testicular cancers. It arises from Leydig cells. While the tumour can occur at any age, it occurs most o...
The majority of Leydig cell tumors are found in males, usually at 5–10 years of age or in middle adulthood (30–60 years). Children typically present with precocious puberty. Due to excess testosterone secreted by the tumour, one-third of female patients present with a recent history of progressive masculinization. Masc...
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https://en.wikipedia.org/wiki/Joubert_syndrome
disease
Joubert syndrome
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first identified in 1969 by pediatric neurologi...
Most of the signs and symptoms of the Joubert syndrome appear very early in infancy with most children showing delays in gross motor milestones. Although other signs and symptoms vary widely from individual to individual, they generally fall under the hallmark of cerebellum involvement or in this case, lack thereof. Co...
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https://en.wikipedia.org/wiki/Spondylosis
disease
Spondylosis
Spondylosis is a broad term meaning degeneration of the spinal column from any cause. In the more narrow sense it refers to spinal osteoarthrosis, the age-related wear and tear of the spinal column, which is the most common cause of spondylosis. The degenerative process in osteoarthritis chiefly affects the vertebral b...
A severe but rare complication of this disease is vertebrobasilar insufficiency. This is a result of the vertebral artery becoming occluded as it passes up in the transverse foramen. The spinal joints become stiff in cervical spondylosis. Thus the chondrocytes which maintain the disc become deprived of nutrition and di...
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https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI
disease
Glycogen storage disease type VI
Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system. It is also known as "Hers' disease", after Henri G. Hers, who characterized it in 1959. The scope of GSD VI now also ...
Patients generally have a benign course, and typically present with hepatomegaly and growth retardation early in childhood. Mild hypoglycemia, hyperlipidemia, and hyperketosis may occur. Lactic acid and uric acid levels may be normal. However, lactic acidosis may occur during fasting.
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https://en.wikipedia.org/wiki/Guanidinoacetate_methyltransferase_deficiency
disease
Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency, also called GAMT deficiency, is an autosomal recessive metabolic disorder that primarily affects the nervous system and muscles. It is the first observed disorder of creatine metabolism.
This disorder usually appears in the first few months of life, when development of new motor and cognitive skills becomes delayed or stops. Eventually, affected children may lose previously acquired skills such as head control or the ability to sit unsupported. Mutations in the GAMT gene are associated with guanidinoac...
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https://en.wikipedia.org/wiki/Endocrine_disease
disease
Endocrine disease
Endocrine diseases are disorders of the endocrine system. The branch of medicine associated with endocrine disorders is known as endocrinology.
Broadly speaking, endocrine disorders may be subdivided into three groups: 1. Endocrine gland hyposecretion (leading to hormone deficiency) 2. Endocrine gland hypersecretion (leading to hormone excess) 3. Tumours (benign or malignant) of endocrine glands Endocrine disorders are often quite complex, involving a mixed p...
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https://en.wikipedia.org/wiki/Tracheoesophageal_fistula
disease
Tracheoesophageal fistula
A tracheoesophageal fistula (TEF, or TOF; see spelling differences) is an abnormal connection (fistula) between the esophagus and the trachea. TEF is a common congenital abnormality, but when occurring late in life is usually the sequela of surgical procedures such as a laryngectomy.
Tracheoesophageal fistula is suggested in a newborn by copious salivation associated with choking, coughing, vomiting, and cyanosis coincident with the onset of feeding. Esophageal atresia and the subsequent inability to swallow typically cause polyhydramnios in utero. Rarely it may present in an adult. Congenital TEF ...
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https://en.wikipedia.org/wiki/Personality_disorder
disease
Personality disorder
Personality disorders (PD) are a class of mental disorders characterized by enduring maladaptive patterns of behavior, cognition, and inner experience, exhibited across many contexts and deviating markedly from those accepted by the individual's culture. These patterns develop early, are inflexible, and are associated ...
The two major systems of classification are the ICD-10 published by the World Health Organization and the DSM-5 by the American Psychiatric Association. Both have deliberately merged their diagnoses to some extent, but some differences remain. For example, ICD-10 does not include narcissistic personality disorder as a ...
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https://en.wikipedia.org/wiki/Neophobia
disease
Neophobia
Neophobia is the fear of anything new, especially a persistent and abnormal fear. In its milder form, it can manifest as the unwillingness to try new things or break from routine. In the context of children the term is generally used to indicate a tendency to reject unknown or novel foods. Food neophobia, as it may be ...
The word neophobia comes from the Greek νέος, neos, meaning "new, young", and φόβος, phobos, for "fear". Cainophobia comes from the Greek καινός, kainos, meaning "new, fresh". Alternative terms for neophobia include metathesiophobia, prosophobia, cainotophobia (or cainophobia), and kainophobia (or kainolophobia). Norwa...
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