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Summary : The prostate is the gland below a man's bladder that produces fluid for semen. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat. There is no standard screening test for prostate cancer. Researchers are studying different tests to find those with the fewest risks and most benefits. One test is the digital rectal exam (DRE). The doctor or nurse inserts a lubricated, gloved finger into your rectum to feel the prostate for lumps or anything unusual. Another test is the prostate-specific antigen (PSA) blood test. Your PSA level may be high if you have prostate cancer. It can also be high if you have an enlarged prostate (BPH) or other prostate problems. If your screening results are abnormal, your doctor may do more tests, such as an ultrasound, MRI, or a biopsy. Prostate cancer screening has risks: - Finding prostate cancer may not improve your health or help you live longer - The results can sometimes be wrong - Follow-up tests, such as a biopsy, may have complications You and your doctor should discuss your risk for prostate cancer, the pros and cons of the screening tests, and whether you should get them.
These resources address the diagnosis or management of MECP2 duplication syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Cleveland Clinic: Spasticity - Gene Review: Gene Review: MECP2 Duplication Syndrome - Genetic Testing Registry: MECP2 duplication syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of rippling muscle disease: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: Rippling muscle disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Benign rolandic epilepsy is the most common form of childhood epilepsy. It is referred to as "benign" because most children outgrow the condition by puberty, usually by 14 years of age. This form of epilepsy is characterized by seizures involving the part of the frontal lobe of the brain called the rolandic area. The seizures associated with this condition typically occur during the nighttime. Treatment is usually not prescribed, since the condition tends to disappear by puberty.
Friedreich ataxia is estimated to affect 1 in 40,000 people. This condition is found in people with European, Middle Eastern, or North African ancestry. It is rarely identified in other ethnic groups.
SOST-related sclerosing bone dysplasia is a rare condition; its exact prevalence is unknown. Approximately 100 individuals with sclerosteosis have been reported in the scientific literature. Sclerosteosis is most common in the Afrikaner population of South Africa. Van Buchem disease has been reported in approximately 30 people. Most people with van Buchem disease are of Dutch ancestry.
Pol III-related leukodystrophy is a rare disorder; its prevalence is unknown. Only about 40 cases have been described in the medical literature. However, researchers believe that a significant percentage of people with an unspecified hypomyelinating leukodystrophy could have Pol III-related leukodystrophy.
Mutations in the SLC7A7 gene cause lysinuric protein intolerance. The SLC7A7 gene provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved in transporting lysine, arginine, and ornithine between cells in the body. The transportation of amino acids from the small intestines and kidneys to the rest of the body is necessary for the body to be able to use proteins. Mutations in the y+LAT-1 protein disrupt the transportation of amino acids, leading to a shortage of lysine, arginine, and ornithine in the body and an abnormally large amount of these amino acids in urine. A shortage of lysine, arginine, and ornithine disrupts many vital functions. Arginine and ornithine are involved in a cellular process called the urea cycle, which processes excess nitrogen (in the form of ammonia) that is generated when protein is used by the body. The lack of arginine and ornithine in the urea cycle causes elevated levels of ammonia in the blood. Lysine is particularly abundant in collagen molecules that give structure and strength to connective tissues such as skin, tendons, and ligaments. A deficiency of lysine contributes to the short stature and osteoporosis seen in people with lysinuric protein intolerance. Other features of lysinuric protein intolerance are thought to result from abnormal protein transport (such as protein deposits in the lungs) or a lack of protein that can be used by the body (protein malnutrition).
These resources address the diagnosis or management of MONA: - Genetic Testing Registry: Multicentric osteolysis, nodulosis and arthropathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The prevalence of Koolen-de Vries syndrome is estimated to be 1 in 16,000. However, the underlying genetic cause is often not identified in people with intellectual disability, so this condition is likely underdiagnosed.
How is Opitz G/BBB syndrome diagnosed? The diagnosis of Opitz G/BBB syndrome is usually based on clinical findings. In order to differentiate the X-linked form from 22q11.2 deletion syndrome (the autosomal dominant form), the pattern of inheritance within the family may be assessed. Molecular genetic testing for mutations in the MID1 gene is available for confirmation. Between 15 and 45% of males with clinically diagnosed Opitz G/BBB syndrome are found to have a mutation in this gene.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
The NINDS supports broad and varied programs of research on epilepsy and other seizure disorders. This research is aimed at discovering new ways to prevent, diagnose, and treat these disorders and, ultimately, to find cures for them. Hopefully, more effective and safer treatments, such as neuroprotective agents, will be developed to treat IS and West Syndrome.
These resources address the diagnosis or management of hypohidrotic ectodermal dysplasia: - Gene Review: Gene Review: Hypohidrotic Ectodermal Dysplasia - Genetic Testing Registry: Autosomal dominant hypohidrotic ectodermal dysplasia - Genetic Testing Registry: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome - Genetic Testing Registry: Hypohidrotic X-linked ectodermal dysplasia - MedlinePlus Encyclopedia: Ectodermal dysplasia - MedlinePlus Encyclopedia: Ozena - MedlinePlus Encyclopedia: Sweating - absent These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The NINDS supports a broad range of research on neuromuscular disorders such as thyrotoxic myopathy. Much of this research is aimed at learning more about these disorders and finding ways to prevent and treat them.
Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder. People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis). Hearing loss caused by progressive nerve damage (sensorineural deafness) typically becomes apparent during the teenage years. Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs. In addition, pigmented skin lesions may occur in affected individuals.
These resources address the diagnosis or management of Coffin-Lowry syndrome: - Gene Review: Gene Review: Coffin-Lowry Syndrome - Genetic Testing Registry: Coffin-Lowry syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms.
People with diabetes can lower their risk of sexual and urologic problems by keeping their blood glucose, blood pressure, and cholesterol levels close to the target numbers their health care provider recommends. Being physically active and maintaining a healthy weight can also help prevent the long-term complications of diabetes. For those who smoke, quitting will lower the risk of developing sexual and urologic problems due to nerve damage and also lower the risk for other health problems related to diabetes, including heart attack, stroke, and kidney disease. More information about preventing diabetes complications is provided in the NIDDK health topic, Prevent diabetes problems: Keep your diabetes under control, available from the National Diabetes Information Clearinghouse at 1-800-860-8747.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back).
How is hypophosphatemic rickets inherited? Hypophosphatemic rickets is most often inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition. Because males have only one X chromosome (and one Y chromosome) and females have two X chromosomes, X-linked dominant conditions affect males and females differently. Both males and females can have an X-linked dominant condition. However, because males don't have a second, working copy of the gene (as females do), they usually have more severe disease than females. If a father has the mutated X-linked gene: all of his daughters will inherit the mutated gene (they will all receive his X chromosome) none of his sons will inherit the mutated gene (they only inherit his Y chromosome) If a mother has the mutated X-linked gene, each of her children (both male and female) has a 50% chance to inherit the mutated gene. Less commonly, hypophosphatemic rickets is inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner.
Cutis laxa is a rare disorder. About 200 affected families worldwide have been reported.
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal blood vessel growth over the cornea (neovascularization), and scarring. Over time, affected individuals experience a loss of sharp vision (reduced visual acuity); in severe cases the keratitis can lead to blindness. Most people with KID syndrome have thick, hard skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Affected individuals also have thick, reddened patches of skin (erythrokeratoderma) that are dry and scaly (ichthyosis). These dry patches can occur anywhere on the body, although they most commonly affect the neck, groin, and armpits. Breaks in the skin often occur and may lead to infections. In severe cases these infections can be life-threatening, especially in infancy. Approximately 12 percent of people with KID syndrome develop a type of skin cancer called squamous cell carcinoma, which may also affect mucous membranes such as the lining of the mouth. Partial hair loss is a common feature of KID syndrome, and often affects the eyebrows and eyelashes. Affected individuals may also have small, abnormally formed nails. Hearing loss in this condition is usually profound, but occasionally is less severe.
How might Milroy disease be treated? There is currently no cure for Milroy disease. Management is typically conservative and usually successful in most people. Management of lymphedema should be guided by a lymphedema therapist. Some improvement is usually possible with the use of properly fitted compression hosiery or bandaging and well fitting, supportive shoes. Good skin care is essential. These measures may improve the cosmetic appearance of the affected areas, decrease their size, and reduce the risk of complications. Decongestive physiotherapy, which combines compression bandaging, manual lymphatic drainage (a specialized massage technique), exercise, breathing exercises, dietary measures and skin care, has become the standard of care for primary lymphedema. People with recurrent cellulitis may benefit from prophylactic antibiotics. Surgical intervention is considered a last option when other medical management fails. When possible, people with Milroy disease should avoid: wounds to swollen areas (because of their reduced resistance to infection) long periods of immobility prolonged standing elevation of the affected limb certain medications (particularly calcium channel-blocking drugs that can cause increased leg swelling in some people)
The goals of research on disorders such as Sjgren's syndrome focus on increasing knowledge and understanding of the disorder, improving diagnostic techniques, testing interventions, and finding ways to treat, prevent, and cure the disease.
Herpes is an infection that is caused by a herpes simplex virus (HSV). Oral herpes causes cold sores around the mouth or face. Genital herpes affects the genitals, buttocks or anal area. Genital herpes is a sexually transmitted disease (STD). It affects the genitals, buttocks or anal area. Other herpes infections can affect the eyes, skin, or other parts of the body. The virus can be dangerous in newborn babies or in people with weak immune systems. There are two types of HSV: - HSV type 1 most commonly causes cold sores. It can also cause genital herpes. - HSV type 2 is the usual cause of genital herpes, but it also can infect the mouth. HSV spreads through direct contact. Some people have no symptoms. Others get sores near the area where the virus has entered the body. They turn into blisters, become itchy and painful, and then heal. Most people have outbreaks several times a year. Over time, you get them less often. Medicines to help your body fight the virus can help lessen symptoms and decrease outbreaks.
How is hereditary sensory neuropathy type 1 inherited? Hereditary sensory neuropathy type 1 (HSN1) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. In rare cases, a mutation that causes HSN1 occurs sporadically as a new (de novo) mutation in a person without an affected parent.
Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls more often than boys and typically occurs between 5 and 15 years of age. Some children will have a sore throat several weeks before the symptoms begin, but the disorder can also strike up to 6 months after the fever or infection has cleared. Symptoms can appear gradually or all at once, and also may include uncoordinated movements, muscular weakness, stumbling and falling, slurred speech, difficulty concentrating and writing, and emotional instability. The symptoms of SD can vary from a halting gait and slight grimacing to involuntary movements that are frequent and severe enough to be incapacitating. The random, writhing movements of chorea are caused by an auto-immune reaction to the bacterium that interferes with the normal function of a part of the brain (the basal ganglia) that controls motor movements. Due to better sanitary conditions and the use of antibiotics to treat streptococcal infections, rheumatic fever, and consequently SD, are rare in North America and Europe. The disease can still be found in developing nations.
Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. Risk factors include - Getting older - Being small and thin - Having a family history of osteoporosis - Taking certain medicines - Being a white or Asian woman - Having osteopenia, which is low bone density Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise and do not smoke. If needed, medicines can also help. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Floating-Harbor syndrome is a rare disorder; only about 50 cases have been reported in the medical literature.
MERRF is a rare condition; its prevalence is unknown. MERRF is part of a group of conditions known as mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide.
Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 people worldwide.
Alport syndrome occurs in approximately 1 in 50,000 newborns.
How might children with Tay-Sachs disease be treated? Although several attempts have been made at purified enzyme replacement therapy for children with Tay-Sachs disease, none has been successful. Cellular infusions and even bone marrow transplantation have been attempted with no evidence of benefit. Because no specific treatment is available for Tay-Sachs disease, treatment is directed at the symptoms and major associated conditions. Treatment is supportive and aimed at providing adequate nutrition and hydration. The airway must be protected. Seizures can be controlled initially with conventional anticonvulsant medications such as benzodiazepines, phenytoins, and/or barbiturates, but the progressive nature of the disease may require alteration of dosage or medication. Infectious diseases should be managed. In advanced disease, good bowel movement should be maintained and severe constipation should be avoided. Good hydration, food additives, stool softeners, laxatives, and other measures should be employed to avoid severe constipation.
The prevalence of Meige disease is unknown. Collectively, the many types of primary lymphedema affect an estimated 1 in 100,000 people younger than 20; Meige disease is the most common type of primary lymphedema. For unknown reasons, this condition affects females about three times as often as males.
Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. This type of tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. Tethered spinal cord syndrome may go undiagnosed until adulthood, when pain, sensory and motor problems, and loss of bowel and bladder control emerge. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time and may be exacerbated during sports or pregnancy, or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.
Dentures are false teeth made to replace teeth you have lost. Dentures can be complete or partial. Complete dentures cover your entire upper or lower jaw. Partials replace one or a few teeth. Advances in dentistry have made many improvements in dentures. They are more natural looking and comfortable than they used to be. But they still may feel strange at first. In the beginning, your dentist may want to see you often to make sure the dentures fit. Over time, your mouth will change and your dentures may need to be adjusted or replaced. Be sure to let your dentist handle these adjustments. Speaking and eating may feel different with dentures. Be careful when wearing dentures because they may make it harder for you to feel hot foods and liquids. Also, you may not notice biting on a bone from your food. NIH: National Institute on Aging
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome. Rarely, Rubinstein-Taybi syndrome can involve serious complications such as a failure to gain weight and grow at the expected rate (failure to thrive) and life-threatening infections. Infants born with this severe form of the disorder usually survive only into early childhood.
Hashimotos syndrome is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones (hypothyroidism). An early sign of the condition may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing. Other signs and symptoms may include tiredness, weight gain, thin and dry hair, joint or muscle pain, constipation, cold intolerance, and/or a slowed heart rate. Affected women may have irregular menstrual periods or difficulty becoming pregnant. Hashimotos syndrome is the most common cause of hypothyroidism in the United States. It is more common in women than in men, and it usually appears in mid-adulthood. The exact cause is unknown but it is thought to result from a combination of genetic and environmental factors. Treatment is not always needed, but may include taking synthetic thyroid hormone.
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. Individuals who are genetically male and have two copies of a mutated gene in each cell are affected by 17-beta hydroxysteroid dehydrogenase 3 deficiency. People with two mutations who are genetically female do not usually experience any signs and symptoms of this disorder.
There is no cure for GSS, nor are there any known treatments to slow progression of the disease. Current therapies are aimed at alleviating symptoms and making the patient as comfortable as possible.
Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells. Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and environmental factors appear to be involved. It is most often found in the uterus or abdomen.
Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a derivative 22 or der(22) chromosome. As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. The excess genetic material disrupts the normal course of development, leading to the characteristic signs and symptoms of this disorder. Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development.
Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. Severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake. Childhood-onset forms of the condition are often associated with intermittent periods of illness but normal neurological development. Prognosis is difficult to predict due to the many causes of the condition, but in most cases of neonatal and infantile onset, prognosis is described as poor. The most common form of pyruvate dehydrogenase deficiency is caused by mutations in the E1 alpha gene, and is inherited in an X-linked dominant manner; all other forms are caused by various genes and are inherited in an autosomal recessive manner. In addition to directly treating acidosis and providing alternative energy for the body, treatment typically includes dietary supplementation with thiamine, carnitine, and lipoic acids, although not all individuals respond to this therapy.
These resources address the diagnosis or management of Arts syndrome: - Gene Review: Gene Review: Arts Syndrome - Genetic Testing Registry: Arts syndrome - MedlinePlus Encyclopedia: Hearing Loss - MedlinePlus Encyclopedia: Movement, Uncoordinated - MedlinePlus Encyclopedia: Optic Nerve Atrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of lattice corneal dystrophy type II: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Meretoja syndrome - Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of Niemann-Pick disease: - Baby's First Test - Gene Review: Gene Review: Acid Sphingomyelinase Deficiency - Gene Review: Gene Review: Niemann-Pick Disease Type C - Genetic Testing Registry: Niemann-Pick disease type C1 - Genetic Testing Registry: Niemann-Pick disease type C2 - Genetic Testing Registry: Niemann-Pick disease, type A - Genetic Testing Registry: Niemann-Pick disease, type B - Genetic Testing Registry: Niemann-Pick disease, type C - Genetic Testing Registry: Niemann-Pick disease, type D - Genetic Testing Registry: Niemann-pick disease, intermediate, protracted neurovisceral - Genetic Testing Registry: Sphingomyelin/cholesterol lipidosis - MedlinePlus Encyclopedia: Niemann-Pick Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the inner root sheath, which forms the channel for the growing hair. The inner root sheath conforms in configuration to the abnormal outline of the hair shaft. It thus forms an irregular, rigid tube that then alters the shape of the emerging hair. While it is assumed that the condition is autosomal dominant and thus due to changes (mutations) in a gene, no responsible gene has been identified.
The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. Both proteins are found in liver cells; they transport bilirubin and other compounds from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body. The SLCO1B1 and SLCO1B3 gene mutations that cause Rotor syndrome lead to abnormally short, nonfunctional OATP1B1 and OATP1B3 proteins or an absence of these proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and removed from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.
The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never experience signs or symptoms. Acute intermittent porphyria is the most common form of acute porphyria in most countries. It may occur more frequently in northern European countries, such as Sweden, and in the United Kingdom. Another form of the disorder, hereditary coproporphyria, has been reported mostly in Europe and North America. Variegate porphyria is most common in the Afrikaner population of South Africa; about 3 in 1,000 people in this population have the genetic change that causes this form of the disorder.
Drusen are yellow deposits under the retina. They often are found in people over age 50. Your eye care professional can detect drusen during a comprehensive dilated eye exam.
Juvenile Paget disease is caused by mutations in the TNFRSF11B gene. This gene provides instructions for making a protein that is involved in bone remodeling, a normal process in which old bone is broken down and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy. Mutations in the TNFRSF11B gene lead to a much faster rate of bone remodeling starting early in life. Bone tissue is broken down more quickly than usual, and when new bone tissue grows it is larger, weaker, and less organized than normal bone. This abnormally fast bone remodeling underlies the problems with bone growth characteristic of juvenile Paget disease.
Multiple sulfatase deficiency is estimated to occur in 1 per million individuals worldwide. Approximately 50 cases have been reported in the scientific literature.
An electrocardiogram (EKG) has no serious risks. It's a harmless, painless test that detects the heart's electrical activity. EKGs don't give off electrical charges, such as shocks. You may develop a mild rash where the electrodes (soft patches) were attached. This rash often goes away without treatment.
Summary : Nuclear scans use radioactive substances to see structures and functions inside your body. They use a special camera that detects radioactivity. Before the test, you receive a small amount of radioactive material. You may get it as an injection. Sometimes you swallow it or inhale it. Then you lie still on a table while the camera makes images. Most scans take 20 to 45 minutes. Nuclear scans can help doctors diagnose many conditions, including cancers, injuries, and infections. They can also show how organs like your heart and lungs are working.
People may be able to reduce their chances of getting gastritis by preventing H. pylori infection. No one knows for sure how H. pylori infection spreads, so prevention is difficult. To help prevent infection, health care providers advise people to - wash their hands with soap and water after using the bathroom and before eating - eat food that has been washed well and cooked properly - drink water from a clean, safe source
Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry, abnormality of the occipital bone (at the base of the skull), and radioulnar synostosis, cleft lip and palate, and mental deficiency. Only 10 cases have been reported in the medical literature. While the underlying cause of this condition remains unknown, it is believed to be transmitted as an autosomal recessive trait. Based on phenotypic overlap and autosomal recessive inheritance, some researchers have suggested that Michels, Malpuech, Carnevale and Mingarelli syndromes represent a spectrum and should be referred to a 3MC syndrome (for Malpuech-Michels-Mingarelli-Carnevale).
You can help your doctor make a diagnosis by writing down important information about your problem beforehand and giving the information to your doctor during your visit. Write down answers to the following questions. - When did I first become aware of my taste problem? - What changes in my sense of taste did I notice? - Do all foods and drinks taste the same? - Have there been any changes in my sense of smell? - Does the change in taste affect my ability to eat normally? - What medicines do I take? What are the names of the medicines? How much do I take? What is the health condition for which I take the medicine? - Have I recently had a cold or the flu? When did I first become aware of my taste problem? What changes in my sense of taste did I notice? Do all foods and drinks taste the same? Have there been any changes in my sense of smell? Does the change in taste affect my ability to eat normally? What medicines do I take? What are the names of the medicines? How much do I take? What is the health condition for which I take the medicine? Have I recently had a cold or the flu?
Most children who develop hemolytic uremic syndrome and its complications recover without permanent damage to their health.1 However, children with hemolytic uremic syndrome may have serious and sometimes life-threatening complications, including - acute kidney injury - high blood pressure - blood-clotting problems that can lead to bleeding - seizures - heart problems - chronic, or long lasting, kidney disease - stroke - coma
Most cases of sick sinus syndrome are not inherited. They are described as sporadic, which means they occur in people with no history of the disorder in their family. When sick sinus syndrome results from mutations in the HCN4 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. When sick sinus syndrome is caused by mutations in the SCN5A gene, it is inherited in an autosomal recessive pattern. Autosomal recessive inheritance 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.
The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with - Movement - Speaking - Vision - Hearing - Mental and physical development Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time. There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies. NIH: National Institute of Neurological Disorders and Stroke
The risk of cataract increases as you get older. Besides age, other risk factors for cataract include - certain diseases like diabetes - personal behavior like smoking or alcohol use - environmental factors such as prolonged exposure to ultraviolet sunlight. certain diseases like diabetes personal behavior like smoking or alcohol use environmental factors such as prolonged exposure to ultraviolet sunlight.
Treatment is symptomatic in nature. Stimulants, such as amphetamine, methylphenidate, and modafinil, may be prescribed. Other drugs used to treat hypersomnia include clonidine, levodopa, bromocriptine, antidepressants, and monoamine oxidase inhibitors. Changes in behavior (for example avoiding night work and social activities that delay bed time) and diet may offer some relief. Patients should avoid alcohol and caffeine.
Congenital radio-ulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it is bilateral; affected individuals often have limited rotational movement of the forearm. Pain is usually not present until the teenage years. It is due to abnormal fetal development of the forearm bones, but the underlying cause is not always known. It is sometimes a feature of certain chromosome abnormalities or genetic syndromes. Some cases appear to be inherited in an autosomal dominant manner. Treatment may be conservative or involve surgery depending on the severity of the abnormality and the range of movement.
Eating disorders are serious behavior problems. They can include severe overeating or not consuming enough food to stay healthy. They also involve extreme concern about your shape or weight. Types of eating disorders include - Anorexia nervosa, in which you become too thin, but you don't eat enough because you think you are fat - Bulimia nervosa, which involves periods of overeating followed by purging, sometimes through self-induced vomiting or using laxatives - Binge-eating, which is out-of-control eating Women are more likely than men to have eating disorders. They usually start in the teenage years and often occur along with depression, anxiety disorders, and substance abuse. Eating disorders can lead to heart and kidney problems and even death. Getting help early is important. Treatment involves monitoring, talk therapy, nutritional counseling, and sometimes medicines. NIH: National Institute of Mental Health
Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).
These resources address the diagnosis or management of prothrombin thrombophilia: - Gene Review: Gene Review: Prothrombin-Related Thrombophilia - Genetic Testing Registry: Thrombophilia - MedlinePlus Encyclopedia: Deep venous thrombosis - MedlinePlus Encyclopedia: Pulmonary embolus These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What causes pemphigus vulgaris? Pemphigus vulgaris is an autoimmune disorder. The immune system produces antibodies against specific proteins in the skin and mucous membranes. These antibodies create a reaction that cause skin cells to separate. Although it is rare, some cases of pemphigus vulgaris are caused by certain medications. Medications that may cause this condition include: Blood pressure medications called ACE inhibitors Chelating agents such as penicillamine, which remove certain materials from the blood While in many cases the exact cause of pemphigus vulgaris remains unknown, several potentially relevant factors have been identified. Genetic factors: Predisposition to pemphigus is linked to genetic factors.Certain major histocompatibility complex (MHC) class II molecules, in particular alleles of human leukocyte antigen (HLA) DR4, appear to confer susceptibility to pemphigus vulgaris. Age: Peak age of onset is from 50-60 years. Infants with neonatal pemphigus typically recover after protection from their mother's antibodies have cleared their systems. The disease may, nonetheless, develop in children or in older persons, as well. Disease association: Pemphigus commonly occurs in individuals who also have other autoimmune diseases, particularly myasthenia gravis and thymoma. Pemphigus is not contagious. It does not spread from person to person. Though there can be a genetic predisposition to develop pemphigus, there is no indication the disease is hereditary.
Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults. It begins as one or a few small, brownish bumps that grow into raised, bumpy patches. These patches slowly increase in size over time. The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened immune system have been suggested as possible risk factors. Porokeratosis of Mibelli may sometimes harm normal tissue underlying the affected area; it may also develop into skin cancer. Treatment depends on the size, location, and aggressiveness of porokeratosis in each affected individual; it may include observation only, medication, or surgery.
Currently there is no specific treatment for Farbers disease. Corticosteroids may help relieve pain. Bone marrow transplants may improve granulomas (small masses of inflamed tissue) on individuals with little or no lung or nervous system complications. Older persons may have granulomas surgically reduced or removed.
These resources address the diagnosis or management of PPM-X syndrome: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Is olivopontocerebellar atrophy inherited? Olivopontocerebellar atrophy (OPCA) may be associated with conditions that are inherited (genetic), or it may occur sporadically. Genetic forms of OPCA may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The inheritance pattern depends on the specific genetic cause. For example, OPCA associated with spinocerebellar ataxia 3 is inherited in an autosomal dominant manner. Most types of inherited OPCA are associated with spinocerebellar ataxias that follow autosomal dominant inheritance. Sporadic OPCA refers to when the condition occurs for unknown reasons, or when there is no evidence of a genetic basis. Some people with sporadic OPCA will eventually develop multiple system atrophy (MSA). People with a personal or family history of OPCA are encouraged to speak with a genetic counselor or other genetics professional. A genetics professional can evaluate the family history; address questions and concerns; assess recurrence risks; and facilitate genetic testing if desired.
Is glucose transporter type 1 deficiency syndrome inherited? Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with GLUT1 deficiency syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.
Celiac artery compression syndrome is a rare disorder characterized by chronic, recurrent abdominal pain related to compression of the celiac artery (which supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm). It usually presents with symptoms of abdominal pain, weight loss, and an abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). The cause is not fully understood; however, it is suspected that there could be a combination of vascular (blood supply) and neurogenic (neurological) components involved. Diagnosis is usually confirmed with imaging such as CT angiography, MRI, ultrasound, and arteriography.Surgery is currently the only treatment option and involves releasing the ligament.
Gluten is a protein found in wheat, rye, and barley. It is found mainly in foods but may also be in other products like medicines, vitamins, and supplements. People with gluten sensitivity have problems with gluten. It is different from celiac disease, an immune disease in which people can't eat gluten because it will damage their small intestine. Some of the symptoms of gluten sensitivity are similar to celiac disease. They include tiredness and stomachaches. It can cause other symptoms too, including muscle cramps and leg numbness. But it does not damage the small intestine like celiac disease. Researchers are still learning more about gluten sensitivity. If your health care provider thinks you have it, he or she may suggest that you stop eating gluten to see if your symptoms go away. However, you should first be tested to rule out celiac disease. Dept. of Health and Human Services Office on Women's Health
Prognosis depends on the extent and severity of malformations. Intellectual impairment does not worsen. Individuals with a disorder of the corpus callosum typically have delays in attaining developmental milestones such as walking, talking, or reading; challenges with social interactions; clumsiness and poor motor coordination, particularly on skills that require coordination of left and right hands and feet (such as swimming, bicycle riding, and driving; and mental and social processing problems that become more apparent with age, with problems particularly evident from junior high school into adulthood.
Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals typically have extreme shortening of the long bones in the arms and legs (mesomelia). As a result of the shortened leg bones, people with Langer mesomelic dysplasia have very short stature. A bone in the forearm called the ulna and a bone in the lower leg called the fibula are often underdeveloped or absent, while other bones in the forearm (the radius) and lower leg (the tibia) are unusually short, thick, and curved. Some people with Langer mesomelic dysplasia also have an abnormality of the wrist and forearm bones called Madelung deformity, which may cause pain and limit wrist movement. Additionally, some affected individuals have mild underdevelopment of the lower jaw bone (mandible).
Is there treatment or a cure for pseudopelade of Brocq? Neither an effective treatment nor cure has been identified for pseudopelade of Brocq. Unfortunately, even when treatment relieves the symptoms and signs, the progression of hair loss may continue. The choice of treatment prescribed varies from person to person and depends mainly on the activity, extent of the disease and patient's tolerance to the treatment. Various forms of corticosteroids have been tried, including injections or skin lotions or creams. Surgery such as hair transplant or scalp reduction might be considered in patients whose condition has remained stable for two or more years.
Heartburn is a painful burning feeling in your chest or throat. It happens when stomach acid backs up into your esophagus, the tube that carries food from your mouth to your stomach. If you have heartburn more than twice a week, you may have GERD. But you can have GERD without having heartburn. Pregnancy, certain foods, alcohol, and some medications can bring on heartburn. Treating heartburn is important because over time reflux can damage the esophagus. Over-the-counter medicines may help. If the heartburn continues, you may need prescription medicines or surgery. If you have other symptoms such as crushing chest pain, it could be a heart attack. Get help immediately.
Wolffian tumors are rare tumors located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. Wolffian ducts are structures in a developing embryo that get incorporated into the reproductive system in males and degenerate in females. Wolffian tumors are thought to have a low potential to become cancerous and tend to range from 0.8 to 25 centimeters in size. Surgery is the recommended treatment. In a small number of cases, recurrences or malignancy have been been reported. Close follow-up is advised.
Sarcoidosis is a disease that leads to inflammation, usually in your lungs, skin, or lymph nodes. It starts as tiny, grain-like lumps, called granulomas. Sarcoidosis can affect any organ in your body. No one is sure what causes sarcoidosis. It affects men and women of all ages and races. It occurs mostly in people ages 20 to 50, African Americans, especially women, and people of Northern European origin. Many people have no symptoms. If you have symptoms, they may include - Cough - Shortness of breath - Weight loss - Night sweats - Fatigue Tests to diagnose sarcoidosis include chest x-rays, lung function tests, and a biopsy. Not everyone who has the disease needs treatment. If you do, prednisone, a type of steroid, is the main treatment. NIH: National Heart, Lung, and Blood Institute
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.
What are the signs and symptoms of Deafness nephritis anorectal malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness nephritis anorectal malformation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anal atresia - Autosomal dominant inheritance - Rectovaginal fistula - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
In many cases, PKD does not cause signs or symptoms until cysts are half an inch or larger. When present, the most common symptoms are pain in the back and sidesbetween the ribs and hipsand headaches. The pain can be temporary or persistent, mild or severe. Hematuriablood in the urinemay also be a sign of autosomal dominant PKD.
When you visit your doctor, here are questions to ask about your kidneys. - What is my GFR? - What is my urine albumin result? - What is my blood pressure? - What is my blood glucose (for people with diabetes)? What is my GFR? What is my urine albumin result? What is my blood pressure? What is my blood glucose (for people with diabetes)?
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. EDS usually affects your skin, joints and blood vessel walls. Symptoms include - Loose joints - Fragile, small blood vessels - Abnormal scar formation and wound healing - Soft, velvety, stretchy skin that bruises easily There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.
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.
Croup is an inflammation of the vocal cords (larynx) and windpipe (trachea). It causes difficulty breathing, a barking cough, and a hoarse voice. The cause is usually a virus, often parainfluenza virus. Other causes include allergies and reflux. Croup often starts out like a cold. But then the vocal cords and windpipe become swollen, causing the hoarseness and the cough. There may also be a fever and high-pitched noisy sounds when breathing. The symptoms are usually worse at night, and last for about three to five days. Children between the ages of 6 months and 3 years have the highest risk of getting croup. They may also have more severe symptoms. Croup is more common in the fall and winter. Most cases of viral croup are mild and can be treated at home. Rarely, croup can become serious and interfere with your child's breathing. If you are worried about your child's breathing, call your health care provider right away.
Primary hypermethioninemia that is not caused by other disorders or excess methionine intake appears to be rare; only a small number of cases have been reported. The actual incidence is difficult to determine, however, since many individuals with hypermethioninemia have no symptoms.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene and occur in people with no history of the disorder in their family.
Monilethrix can have multiple patterns of inheritance. When the condition is caused by a mutation in one of the keratin genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition results from a new mutation in the gene and is not inherited. When the condition is caused by mutations in the DSG4 gene, it 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.
The type of lactose intolerance that occurs in infants (congenital lactase deficiency) is inherited in an autosomal recessive pattern, which means both copies of the LCT 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. The ability to digest lactose into adulthood depends on which variations in the regulatory element within the MCM6 gene individuals have inherited from their parents. The variations that promote continued lactase production are considered autosomal dominant, which means one copy of the altered regulatory element in each cell is sufficient to sustain lactase production. People who have not inherited these variations from either parent will have some degree of lactose intolerance.
Injury to the blood vessels, nerves, and muscles in the perineum can lead to complications such as - bladder control problems - sexual problems Bladder control problems. The nerves in the perineum carry signals from the bladder to the spinal cord and brain, telling the brain when the bladder is full. Those same nerves carry signals from the brain to the bladder and pelvic floor muscles, directing those muscles to hold or release urine. Injury to those nerves can block or interfere with the signals, causing the bladder to squeeze at the wrong time or not to squeeze at all. Damage to the pelvic floor muscles can cause bladder and bowel control problems. Sexual problems. The perineal nerves also carry signals between the genitals and the brain. Injury to those nerves can interfere with the sensations of sexual contact. Signals from the brain direct the smooth muscles in the genitals to relax, causing greater blood flow into the penis. In men, damaged blood vessels can cause erectile dysfunction (ED), the inability to achieve or maintain an erection firm enough for sexual intercourse. An internal portion of the penis runs through the perineum and contains a section of the urethra. As a result, damage to the perineum may also injure the penis and urethra.
Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; approximately 14 cases have been described in the scientific literature.
Indomethacin provides rapid relief from symptoms. Patients must take between 25 and 300 milligrams of indomethacin daily and indefinitely to decrease symptoms. Some individuals may need to take acid-suppression medicine due to a gastrointestinal side effect. For those who cannot tolerate the side effects, another NSAID, celecoxib, has been shown to have less complications and can be prescribed. Amitriptyline and other tricyclic antidepressants are also effective in some individuals with hemicrania continua as a preventative treatment.
Staph is short for Staphylococcus, a type of bacteria. There are over 30 types, but Staphylococcus aureus causes most staph infections (pronounced "staff infections"), including - Skin infections - Pneumonia - Food poisoning - Toxic shock syndrome - Blood poisoning (bacteremia) Skin infections are the most common. They can look like pimples or boils. They may be red, swollen and painful, and sometimes have pus or other drainage. They can turn into impetigo, which turns into a crust on the skin, or cellulitis, a swollen, red area of skin that feels hot. Anyone can get a staph skin infection. You are more likely to get one if you have a cut or scratch, or have contact with a person or surface that has staph bacteria. The best way to prevent staph is to keep hands and wounds clean. Most staph skin infections are easily treated with antibiotics or by draining the infection. Some staph bacteria such as MRSA (methicillin-resistant Staphylococcus aureus) are resistant to certain antibiotics, making infections harder to treat.
Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. Angelman syndrome results from absence of a functional copy of the UBE3A gene inherited from the mother.
Succinic semialdehyde dehydrogenase (SSADH) deficiency is disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus; hyperactivity; and/or behavioral problems. SSADH deficiency is caused by mutations in the ALDH5A1 gene and is inherited in an autosomal recessive manner. Management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues.
Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease) that leads to breathing problems. People with this disorder can develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Affected individuals may also experience chest pain that worsens when coughing, sneezing, or taking deep breaths. Pulmonary alveolar microlithiasis is usually diagnosed before age 40. Often the disorder is discovered before symptoms develop, when medical imaging is done for other reasons. The condition typically worsens slowly over many years, although some affected individuals have signs and symptoms that remain stable for long periods of time. People with pulmonary alveolar microlithiasis can also develop calcium phosphate deposits in other organs and tissues of the body, including the kidneys, gallbladder, testes, and the valve that connects a large blood vessel called the aorta with the heart (the aortic valve). In rare cases, affected individuals have complications related to accumulation of these deposits, such as a narrowing (stenosis) of the aortic valve that can impede normal blood flow.

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