Datasets:
codexist
/
medical_data

Dataset card Data Studio Files
xet
Community
1
data
stringlengths
25
1.5k
Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
These resources address the diagnosis or management of DMD-associated dilated cardiomyopathy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Dilated cardiomyopathy 3B - Genetic Testing Registry: Duchenne muscular dystrophy - National Heart, Lung, and Blood Institute: How Is Cardiomyopathy Diagnosed? - National Heart, Lung, and Blood Institute: How Is Cardiomyopathy Treated? 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 juvenile myoclonic epilepsy: - Genetic Testing Registry: Epilepsy with grand mal seizures on awakening - Genetic Testing Registry: Epilepsy, idiopathic generalized 10 - Genetic Testing Registry: Epilepsy, idiopathic generalized 9 - Genetic Testing Registry: Epilepsy, juvenile myoclonic 5 - Genetic Testing Registry: Epilepsy, juvenile myoclonic 9 - Genetic Testing Registry: Juvenile myoclonic epilepsy - Merck Manual Consumer Version: Seizure 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
The primary treatment option for a CCM is surgical removal. Radiation therapy has not been shown to be effective. The decision to operate is made based upon the risk of approaching the lesion. For example, symptomatic lesions close to the brain surface in non eloquent brain (areas for example, those areas not involved with motor function, speech, vision, hearing, memory, and learning) are very likely to be candidates for removal. On the other hand, lesions located in deep brain areas are associated with higher surgical risk and are often not candidates for surgery until the lesion has bled multiple times. Medications can often lessen general symptoms such as headache, back pain, and seizures.
Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes (jaundice). In people with Rotor syndrome, jaundice is usually evident shortly after birth or in childhood and may come and go; yellowing of the whites of the eyes (also called conjunctival icterus) is often the only symptom. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both unconjugated and conjugated bilirubin in their blood, but the majority is conjugated.
Familial esophageal achalasia refers to a cluster of achalasia within a family. Achalasia is a condition that affects the esophagus, the tube that carries food from the mouth to the stomach. In people with achalasia, the normal muscle activity of the esophagus is reduced and the muscular valve where the esophagus and the stomach meet doesn't fully relax. This makes it difficult for food to move from the esophagus to the stomach. As a result, people with achalasia may experience regurgitation of food, chest pain, cough, difficulty swallowing, heartburn, and/or unintentional weight loss. Reports of familial esophageal achalasia are rare and represent less than 1% of all achalasia cases. In these families, the underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment aims to allow food to pass more easily into this stomach and may include injections with botulinum toxin (Botox), certain medications and/or surgery.
Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems.
An early symptom of wet AMD is that straight lines appear wavy. If you notice this condition or other changes to your vision, contact your eye care professional at once. You need a comprehensive dilated eye exam.
Physicians often prescribe high doses of non-steroidal anti-inflammatory drugs (NSAIDs) or steroids for a sudden attack of gout. NSAIDs are taken by mouth and corticosteroids are either taken by mouth or injected into the affected joint. Patients often begin to improve within a few hours of treatment, and the attack usually goes away completely within a week or so. When NSAIDs or corticosteroids fail to control pain and swelling, the doctor may use another drug, colchicine. This drug is most effective when taken within the first 12 hours of an acute attack. For patients who have repeated gout attacks, the doctor may prescribe medicine such as allupurinol, febuxostat, or probenecid to lower uric acid levels. In severe cases of gout that do not respond to other treatments, pegloticase, a medicine administered by intravenous infusion, may be prescribed to reduce levels of uric acid.
A fistula is an abnormal connection between two parts inside of the body. Fistulas may develop between different organs, such as between the esophagus and the windpipe or the bowel and the vagina. They can also develop between two blood vessels, such as between an artery and a vein or between two arteries. Some people are born with a fistula. Other common causes of fistulas include - Complications from surgery - Injury - Infection - Diseases, such as Crohn's disease or ulcerative colitis Treatment depends on the cause of the fistula, where it is, and how bad it is. Some fistulas will close on their own. In some cases, you may need antibiotics and/or surgery.
AD-HIES has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In about half of all cases caused by STAT3 gene mutations, an affected person inherits the genetic change from an affected parent. Other cases result from new mutations in this gene. These cases occur in people with no history of the disorder in their family.
What are the signs and symptoms of glioblastoma? Signs and symptoms of glioblastoma vary depending on the size and location of the tumor but may include: Headache Nausea and vomiting Drowsiness Changes in personality Weakness on one side of the body Memory loss Speech difficulty Changes in vision Seizures
Cerebral palsy cant be cured, but treatment will often improve a child's capabilities. In general, the earlier treatment begins the better chance children have of overcoming developmental disabilities or learning new ways to accomplish the tasks that challenge them.Early intervention, supportive treatments, medications, and surgery can help many individuals improve their muscle control. Treatment may include physical and occupational therapy, speech therapy, drugs to control seizures, relax muscle spasms, and alleviate pain; surgery to correct anatomical abnormalities or release tight muscles; braces and other orthotic devices; wheelchairs and rolling walkers; and communication aids such as computers with attached voice synthesizers.
Researchers have not found that eating, diet, and nutrition play a role in causing ulcerative colitis symptoms. Good nutrition is important in the management of ulcerative colitis, however. Dietary changes can help reduce symptoms. A health care provider may recommend dietary changes such as - avoiding carbonated drinks - avoiding popcorn, vegetable skins, nuts, and other high-fiber foods while a person has symptoms - drinking more liquids - eating smaller meals more often - keeping a food diary to help identify troublesome foods Health care providers may recommend nutritional supplements and vitamins for people who do not absorb enough nutrients. To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements and probiotics, with their health care provider. Read more at www.nccam.nih.gov/health/probiotics. Depending on a person's symptoms or medications, a health care provider may recommend a specific diet, such as a - high-calorie diet - lactose-free diet - low-fat diet - low-fiber diet - low-salt diet People should speak with a health care provider about specific dietary recommendations and changes.
What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebellum and other brain structures. Cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration are progressive degenerative disorders that affect various parts of the nervous system, including the cerebellum. Spinocerebellar ataxias, including Friedreich ataxia, are caused by inherited changes (mutations) in many different genes and are characterized by cell death in the cerebellum, brain stem, and spinal cord. Transmissible spongiform encephalopathies (such as 'Mad Cow Disease' and Creutzfeldt-Jakob disease) are associated with inflammation of the brain, particularly in the cerebellum, that is caused by abnormal proteins. Multiple sclerosis occurs when the insulating membrane (myelin) that wraps around and protects nerve cells (including those of the cerebellum) become damaged. Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders.
PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, learning disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. PURA syndrome occurs when one of a person's two copies of the PURA gene, located on chromosome 5, does not function normally. The reason for this is unknown. Because the features of PURA syndrome are common, a genetic test (such as whole genome sequencing) is needed for diagnosis. Treatment typically includes speech and language support as well as physical and occupational therapy. Early intervention is key.
Epidermal nevi affect approximately 1 in 1,000 people.
What treatments are available for itching related to polycythemia vera? There are several treatments for the itching (pruritus) related to polycythemia vera (PV). No single treatment has been found to be effective for all affected individuals. For mild cases, treatment may include avoiding triggers of itching and dry skin, or controlling the temperature of the environment and bathing water. Several other treatments are available for more severe itching or for itching the does not respond to initial treatments. Interferon-alpha has been found to be effective for reducing itching in a majority of individual with PV who received this therapy; however, this medication can have significant side effects. Selective serotonin reuptake inhibitors (SSRIs), typically used to treat depression, may reducing itching for some individuals with PV.. Phototherapy, antihistamines, and phlebotomy have also been attempted, with mixed results. Additionally, if a genetic cause of polycythemia vera is know, medications targeted to the causative gene - such as JAK or mTor inhibitors - may be helpful in reducing itching.
Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, which are tissues that provide strength and flexibility to structures throughout the body. Specifically, the condition is characterized by skin growths called connective tissue nevi and a bone abnormality known as osteopoikilosis. Connective tissue nevi are small, noncancerous lumps on the skin. They tend to appear in childhood and are widespread in people with Buschke-Ollendorff syndrome. The most common form of these nevi are elastomas, which are made up of a type of stretchy connective tissue called elastic fibers. Less commonly, affected individuals have nevi called collagenomas, which are made up of another type of connective tissue called collagen. Osteopoikilosis, which is from the Greek words for "spotted bones," is a skeletal abnormality characterized by small, round areas of increased bone density that appear as brighter spots on x-rays. Osteopoikilosis usually occurs near the ends of the long bones of the arms and legs, and in the bones of the hands, feet, and pelvis. The areas of increased bone density appear during childhood. They do not cause pain or other health problems.
What are the signs and symptoms of Ichthyosis hystrix gravior? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix gravior. 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) Autosomal dominant inheritance - Ichthyosis - 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.
Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include - Loss of speech - Loss of hand movements such as grasping - Compulsive movements such as hand wringing - Balance problems - Breathing problems - Behavior problems - Learning problems or intellectual disability Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives. NIH: National Institute of Child Health and Human Development
What are the signs and symptoms of mosaic trisomy 9? The signs and symptoms of mosaic trisomy 9 vary but may include: Different degrees of developmental delay and intellectual disability Abnormal growth including low birth weight, failure to thrive, hypotonia (low muscle tone), and short stature Characteristic craniofacial features such as microcephaly (unusually small head); a sloping forehead with narrow temples; a broad nose with a bulbous tip and "slitlike" nostrils; a small jaw; abnormally wide fontanelles at birth; cleft lip and/or palate; low-set, misshapen ears; microphthalmia (unusually small eyes) and/or short, upwardly slanting eyelid folds (palpebral fissures) Vision problems Congenital heart defects Abnormalities of the muscles and/or bones such as congenital dislocation of the hips; abnormal position and/or limited function of the joints; underdevelopment of certain bones; and/or abnormal curvature of the spine Unusually formed feet, such as club foot or "rocker bottom" feet Abnormalities of the male reproductive system, including undescended testes, a small penis, and/or abnormal placement of the urinary opening Kidney problems Brain malformations such as hydrocephalus and/or Dandy-Walker malformation
Although TS can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood. As a result, some individuals may actually become symptom free or no longer need medication for tic suppression.
Parkes Weber syndrome (PWS) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. The main characteristics of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. Individuals may also have pain in the affected limb and a difference in size between the limbs. There has been evidence that some cases of PWS are caused by mutations in the RASA1 gene and are inherited in an autosomal dominant manner. Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb.
These resources address the diagnosis or management of SCA2: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 2 - Genetic Testing Registry: Spinocerebellar ataxia 2 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
Repetitive motion disorders (RMDs) are a family of muscular conditions that result from repeated motions performed in the course of normal work or daily activities. RMDs include carpal tunnel syndrome, bursitis, tendonitis, epicondylitis, ganglion cyst, tenosynovitis, and trigger finger. RMDs are caused by too many uninterrupted repetitions of an activity or motion, unnatural or awkward motions such as twisting the arm or wrist, overexertion, incorrect posture, or muscle fatigue. RMDs occur most commonly in the hands, wrists, elbows, and shoulders, but can also happen in the neck, back, hips, knees, feet, legs, and ankles. The disorders are characterized by pain, tingling, numbness, visible swelling or redness of the affected area, and the loss of flexibility and strength. For some individuals, there may be no visible sign of injury, although they may find it hard to perform easy tasks Over time, RMDs can cause temporary or permanent damage to the soft tissues in the body -- such as the muscles, nerves, tendons, and ligaments - and compression of nerves or tissue. Generally, RMDs affect individuals who perform repetitive tasks such as assembly line work, meatpacking, sewing, playing musical instruments, and computer work. The disorders may also affect individuals who engage in activities such as carpentry, gardening, and tennis.
More than 100 cases of acatalasemia have been reported in the medical literature. Researchers estimate that the condition occurs in about 1 in 12,500 people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in Switzerland. The prevalence of acatalasemia in other populations is unknown.
Summary : Heart surgery can correct problems with the heart if other treatments haven't worked or can't be used. The most common type of heart surgery for adults is coronary artery bypass grafting (CABG). During CABG, a healthy artery or vein from the body is connected, or grafted, to a blocked coronary (heart) artery. Doctors also use heart surgery to - Repair or replace heart valves, which control blood flow through the heart - Repair abnormal or damaged structures in the heart - Implant medical devices that help control the heartbeat or support heart function and blood flow - Replace a damaged heart with a healthy heart from a donor - Treat heart failure and coronary heart disease - Control abnormal heart rhythms Heart surgery has risks, even though its results often are excellent. Risks include bleeding, infection, irregular heartbeats, and stroke. The risk is higher if you are older or a woman. The risk is also higher if you have other diseases or conditions, such as diabetes, kidney disease, lung disease, or peripheral arterial disease. NIH: National Heart, Lung, and Blood Institute
Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features. Norrie disease is caused by mutations in the NDP gene. It is inherited in an X-linked recessive pattern. Treatment is directed toward the specific symptoms present in each individual. The coordinated efforts of a team of specialists, including pediatricians, ophthalmologists, and audiologists may be needed. Early intervention and special education services are important to ensure that children with Norrie disease reach their full potential.
The prevalence of distal myopathy 2 is unknown. At least two families with the condition have been described in the scientific literature.
These resources address the diagnosis or management of fucosidosis: - Genetic Testing Registry: Fucosidosis 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 hypokalemic periodic paralysis? Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes. The CACNA1S and SCN4A genes provide instructions for making proteins that play an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain positively charged atoms (ions) into muscle cells. The CACNA1S and SCN4A proteins form channels that control the flow of these ions. The channel formed by the CACNA1S protein transports calcium ions into cells, while the channel formed by the SCN4A protein transports sodium ions. Mutations in the CACNA1S or SCN4A gene alter the usual structure and function of calcium or sodium channels. The altered channels cannot properly regulate the flow of ions into muscle cells, which reduces the ability of skeletal muscles to contract. Because muscle contraction is needed for movement, a disruption in normal ion transport leads to episodes of severe muscle weakness or paralysis. A small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in the CACNA1S or SCN4A gene. In these cases, the cause of the condition is unknown.
D-bifunctional protein deficiency is estimated to affect 1 in 100,000 newborns.
Erosive gastritis may cause ulcers or erosions in the stomach lining that can bleed. Signs and symptoms of bleeding in the stomach include - shortness of breath - dizziness or feeling faint - red blood in vomit - black, tarry stools - red blood in the stool - weakness - paleness A person with any signs or symptoms of bleeding in the stomach should call or see a health care provider right away. More information is provided in the NIDDK health topic, Bleeding in the Digestive Tract.
What causes frontal fibrosing alopecia? The exact underlying cause of frontal fibrosing alopecia (FFA) is unknown. FFA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles (structures in the skin that make hair). Scientists also suspect that there may be a hormonal component since the condition most commonly affects post-menopausal women over age 50.
Parents and caregivers can help prevent childhood hemolytic uremic syndrome due to E. coli O157:H7 by - avoiding unclean swimming areas - avoiding unpasteurized milk, juice, and cider - cleaning utensils and food surfaces often - cooking meat to an internal temperature of at least 160 F - defrosting meat in the microwave or refrigerator - keeping children out of pools if they have had diarrhea - keeping raw foods separate - washing hands before eating - washing hands well after using the restroom and after changing diapers When a child is taking medications that may cause hemolytic uremic syndrome, it is important that the parent or caretaker watch for symptoms and report any changes in the child's condition to the health care provider as soon as possible.
Low vision can result from a variety of diseases, disorders, and injuries that affect the eye. Many people with low vision have age-related macular degeneration, cataracts, glaucoma, or diabetic retinopathy. Age-related macular degeneration accounts for almost 45 percent of all cases of low vision.
These resources address the diagnosis or management of FG syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: FG syndrome - Genetic Testing Registry: FG syndrome 2 - Genetic Testing Registry: FG syndrome 3 - Genetic Testing Registry: FG syndrome 4 - Genetic Testing Registry: FG syndrome 5 - MedlinePlus Encyclopedia: Corpus Callosum of the Brain (image) - MedlinePlus Encyclopedia: Imperforate Anus 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
Signs and symptoms of myelodysplastic/myeloproliferative neoplasm, unclassifiable, include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by MDS/MPN-UC or by other conditions. Check with your doctor if you have any of the following: - Fever or frequent infections. - Shortness of breath. - Feeling very tired and weak. - Pale skin. - Easy bruising or bleeding. - Petechiae (flat, pinpoint spots under the skin caused by bleeding). - Pain or a feeling of fullness below the ribs.
These resources address the diagnosis or management of Nicolaides-Baraitser syndrome: - Gene Review: Gene Review: Nicolaides-Baraitser Syndrome - Genetic Testing Registry: Nicolaides-Baraitser 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
- Diabetes is the leading cause of chronic kidney disease (CKD) and kidney failure in the United States. - People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are estimated glomerular filtration rate (eGFR) and urine albumin. - Drugs used to lower blood pressure can slow the progression of kidney disease significantly. Two types of drugs, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. - In people with diabetes, excessive consumption of protein may be harmful. - Intensive management of blood glucose has shown great promise for people with diabetes, especially for those in the early stages of CKD.
What are the signs and symptoms of Familial episodic pain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial episodic pain syndrome. 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) Adult onset - Autosomal dominant inheritance - Infantile onset - Pain - 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.
The cause of cyclic vomiting syndrome is unknown. However, some experts believe that some possible problems with bodily functions may contribute to the cause, such as the following: - gastrointestinal motilitythe way food moves through the digestive system - central nervous system functionincludes the brain, spinal cord, and nerves that control bodily responses - autonomic nervous system functionnerves that control internal organs such as the heart - hormone imbalanceshormones are a chemical produced in one part of the body and released into the blood to trigger or regulate particular bodily functions - in children, an abnormal inherited gene may also contribute to the condition Specific conditions or events may trigger an episode of cyclic vomiting: - emotional stress, anxiety, or panic attacksfor example, in children, common triggers of anticipatory anxiety are school exams or events, birthday parties, holidays, family conflicts, or travel - infections, such as a sinus infection, a respiratory infection, or the flu - eating certain foods, such as chocolate or cheese, or additives such as caffeine, nitritescommonly found in cured meats such as hot dogsand monosodium glutamate, also called MSG - hot weather - menstrual periods - motion sickness - overeating, fasting, or eating right before bedtime - physical exhaustion or too much exercise
Mutations in the GUSB gene cause MPS VII. This gene provides instructions for producing the beta-glucuronidase (-glucuronidase) enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the GUSB gene reduce or completely eliminate the function of -glucuronidase. The shortage (deficiency) of -glucuronidase leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS VII that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt many normal functions of cells.
Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment. Infections are generally treated for 3 days. The recommended medications are effective. Health care providers may decide to repeat a stool exam after treatment. Iron supplements may also be prescribed if the infected person suffers from anemia. More on: Resources for Health Professionals: Treatment
Pustular psoriasis is a rare form of psoriasis that is characterized by widespread pustules and reddish skin. This condition can occur alone or with plaque-type psoriasis. Most cases of pustular psoriasis are thought to be "multifactorial" or associated with the effects of multiple genes in combination with lifestyle and environmental factors. There are several triggers for this conditions including withdrawal from corticosteroids, exposure to various medications and/or infections. Some cases of the generalized form are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive pattern. In severe cases, hospitalization may be required. Treatment aims to alleviate the associated symptoms and may include certain medications and/or phototherapy.
There is no cure for Moebius syndrome. In spite of the impairments that characterize the disorder, proper care and treatment give many individuals a normal life expectancy.
Dopamine beta ()-hydroxylase deficiency is a condition that affects the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Problems related to this disorder can first appear during infancy. Early signs and symptoms may include episodes of vomiting, dehydration, decreased blood pressure (hypotension), difficulty maintaining body temperature, and low blood sugar (hypoglycemia). Individuals with dopamine -hydroxylase deficiency typically experience a sharp drop in blood pressure upon standing (orthostatic hypotension), which can cause dizziness, blurred vision, or fainting. This sudden drop in blood pressure is usually more severe when getting out of bed in the morning, during hot weather, and as a person gets older. People with dopamine -hydroxylase deficiency experience extreme fatigue during exercise (exercise intolerance) due to their problems maintaining a normal blood pressure. Other features of dopamine -hydroxylase deficiency include droopy eyelids (ptosis), nasal congestion, and an inability to stand for a prolonged period of time. Affected males may also experience retrograde ejaculation, a discharge of semen backwards into the bladder. Less common features include an unusually large range of joint movement (hypermobility) and muscle weakness.
Summary : When someone's blood flow or breathing stops, seconds count. Permanent brain damage or death can happen quickly. If you know how to perform cardiopulmonary resuscitation (CPR), you could save a life. CPR is an emergency procedure for a person whose heart has stopped or is no longer breathing. CPR can maintain circulation and breathing until emergency medical help arrives. Even if you haven't had training, you can do "hands-only" CPR for a teen or adult whose heart has stopped beating ("hands-only" CPR isn't recommended for children). "Hands-only" CPR uses chest compressions to keep blood circulating until emergency help arrives. If you've had training, you can use chest compressions, clear the airway, and do rescue breathing. Rescue breathing helps get oxygen to the lungs for a person who has stopped breathing. To keep your skills up, you should repeat the training every two years.
Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hypertelorism); and low-set or unusually shaped ears. People with recombinant 8 syndrome may have overgrowth of the gums (gingival hyperplasia) and abnormal tooth development. Males with this condition frequently have undescended testes (cryptorchidism). Some affected individuals have recurrent ear infections (otitis media) or hearing loss. Many children with recombinant 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities.
Mutations in the ANKH gene cause autosomal dominant craniometaphyseal dysplasia. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. The ANKH protein may have other, unknown functions. Mutations in the ANKH gene that cause autosomal dominant craniometaphyseal dysplasia may decrease the ANKH protein's ability to transport pyrophosphate out of cells. Reduced levels of pyrophosphate can increase bone mineralization, contributing to the bone overgrowth seen in craniometaphyseal dysplasia. Why long bones are shaped differently and only the skull bones become thicker in people with this condition remains unclear. The genetic cause of autosomal recessive craniometaphyseal dysplasia is unknown. Researchers believe that mutations in an unidentified gene on chromosome 6 may be responsible for the autosomal recessive form of this condition.
The main symptom of insomnia is trouble falling or staying asleep, which leads to lack of sleep. If you have insomnia, you may: Lie awake for a long time before you fall asleep Sleep for only short periods Be awake for much of the night Feel as if you haven't slept at all Wake up too early The lack of sleep can cause other symptoms. You may wake up feeling tired or not well-rested, and you may feel tired during the day. You also may have trouble focusing on tasks. Insomnia can cause you to feel anxious, depressed, or irritable. Insomnia also can affect your daily activities and cause serious problems. For example, you may feel drowsy while driving. Driver sleepiness (not related to alcohol) is responsible for almost 20 percent of all serious car crash injuries. Research also shows that insomnia raises older womens risk of falling. If insomnia is affecting your daily activities, talk with your doctor. Treatment may help you avoid symptoms and problems related to the disorder. Also, poor sleep may be a sign of other health problems. Finding and treating those problems could improve your overall health and sleep.
What are the signs and symptoms of Beta ketothiolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta ketothiolase deficiency. 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) Autosomal recessive inheritance - Dehydration - Episodic ketoacidosis - Intellectual disability - Vomiting - 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.
The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the condition to their children. In about 10 percent of cases, a person with this condition inherits the deletion in chromosome 22 from a parent. In inherited cases, other family members may be affected as well.
These resources address the diagnosis or management of hypochondroplasia: - Gene Review: Gene Review: Hypochondroplasia - Genetic Testing Registry: Hypochondroplasia - MedlinePlus Encyclopedia: Lordosis 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
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood. If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities.
Is alopecia universalis inherited? Alopecia universalis is believed to be a multifactorial condition, which means it is caused by a combination of environmental influences and genetic predisposition. While a predisposition can be inherited and some affected people have a family history, the condition itself is not thought to be inherited.
These resources address the diagnosis or management of multiple endocrine neoplasia: - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 1 - Gene Review: Gene Review: Multiple Endocrine Neoplasia Type 2 - Genetic Testing Registry: Familial medullary thyroid carcinoma - Genetic Testing Registry: Multiple endocrine neoplasia, type 1 - Genetic Testing Registry: Multiple endocrine neoplasia, type 2a - Genetic Testing Registry: Multiple endocrine neoplasia, type 2b - Genetic Testing Registry: Multiple endocrine neoplasia, type 4 - Genomics Education Programme (UK): Multiple Endocrine Neoplasia type 1 - Genomics Education Programme (UK): Multiple Endocrine Neoplasia type 2A - MedlinePlus Encyclopedia: Hyperparathyroidism - MedlinePlus Encyclopedia: Medullary Carcinoma of Thyroid - MedlinePlus Encyclopedia: Multiple Endocrine Neoplasia (MEN) I - MedlinePlus Encyclopedia: Multiple Endocrine Neoplasia (MEN) II - MedlinePlus Encyclopedia: Pancreatic Islet Cell Tumor - MedlinePlus Encyclopedia: Pheochromocytoma - MedlinePlus Encyclopedia: Pituitary Tumor - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes - New York Thyroid Center: Medullary Thyroid Cancer 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
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.
How might Fitz-Hugh-Curtis syndrome be treated? Fitz-Hugh-Curtis syndrome (FHCS) is treated with antibiotics, given by intravenous (IV) injection or as medication taken by mouth. The specific antibiotic medication is determined by the type of underlying infection; that is, treatment depends on whether the infection is chlamydia or gonorrhea. If pain continues after treatment with antibiotics, surgery (laparoscopy) may be done to remove bands of tissue (adhesions) that connect the liver to the abdominal wall and cause pain in individuals with FHCS.
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 polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin resistance. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more than one polymorphism in a gene or polymorphisms in multiple genes associated with warfarin resistance have a higher tolerance for the drug's effect or are able to process the drug more quickly.
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.
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 (whether it is in the endometrium only, involves the uterus wall, or has spread to other places in the body). - How the cancer cells look under a microscope. - Whether the cancer cells are affected by progesterone. Endometrial cancer can usually be cured because it is usually diagnosed early.
Loiasis is an infection caused by the parasitic worm Loa loa.
Mutations in the MKKS gene cause McKusick-Kaufman syndrome. This gene provides instructions for making a protein that plays an important role in the formation of the limbs, heart, and reproductive system. The protein's structure suggests that it may act as a chaperonin, which is a type of protein that helps fold other proteins. Proteins must be folded into the correct 3-dimensional shape to perform their usual functions in the body. Although the structure of the MKKS protein is similar to that of a chaperonin, some recent studies have suggested that protein folding may not be this protein's primary function. Researchers speculate that the MKKS protein also may be involved in transporting other proteins within the cell. The mutations that underlie McKusick-Kaufman syndrome alter the structure of the MKKS protein. Although the altered protein disrupts the development of several parts of the body before birth, it is unclear how MKKS mutations lead to the specific features of this disorder.
Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD frequently begin before birth, so it is often called infantile PKD but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients. The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics, healthy diet, and growth hormones.
Mutations in the MEFV gene cause familial Mediterranean fever. The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin), which is found in white blood cells. This protein is involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this process is complete, the body stops the inflammatory response to prevent damage to its own cells and tissues. Mutations in the MEFV gene reduce the activity of the pyrin protein, which disrupts control of the inflammation process. An inappropriate or prolonged inflammatory response can result, leading to fever and pain in the abdomen, chest, or joints. Normal variations in the SAA1 gene may modify the course of familial Mediterranean fever. Some evidence suggests that a particular version of the SAA1 gene (called the alpha variant) increases the risk of amyloidosis among people with familial Mediterranean fever.
Small pituitary adenomas are common, affecting about 17 percent of the population.1 However, research suggests most of these tumors do not cause symptoms and rarely produce excess GH.2 Scientists estimate that three to four out of every million people develop acromegaly each year and about 60 out of every million people suffer from the disease at any time.3 Because the clinical diagnosis of acromegaly is often missed, these numbers probably underestimate the frequency of the disease.
The time from diagnosis of Alzheimers disease to death varies. It can be as little as 3 or 4 years if the person is over 80 years old when diagnosed or as long as 10 years or more if the person is younger.
How is autosomal recessive polycystic kidney disease inherited? Autosomal recessive polycystic kidney disease (ARPKD) is inherited in an autosomal recessive manner. This means that an affected individual has two gene alterations (mutations) in the PKHD1 gene, with one mutation inherited from each parent. Each parent, who has one altered copy of the gene, is referred to as a carrier. Carriers do not typically show signs and symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. This means that with each pregnancy, there is a 75% (3 in 4) chance to have an unaffected child.
Sertoli cell-only syndrome (SCO syndrome) is a condition of the testes that causes infertility in males due to having only Sertoli cells (cells that nurture immature sperm) lining the seminiferous tubules (tubes inside the testicles where sperm develop). Men typically learn they are affected between ages 20-40 when being evaluated for infertility and are found to have no sperm production (azoospermia). The diagnosis is made based on testicular biopsy findings. Other signs and symptoms are rare, but are secondary to the underlying condition causing SCO syndrome. Most cases are idiopathic (of unknown cause), but causes may include deletions in the azoospermia factor (AZF) region of the Y chromosome, or Y-chromosome microdeletions (referred to as Y chromosome infertility); Klinefelter syndrome; exposure to chemicals and toxins; history of radiation therapy; and history of severe trauma. There is not currently a known effective treatment for the condition. When no germ cells are visible in any seminiferous tubules it is considered SCO type I; if germ cells are present in a minority of tubules is it considered SCO type II.
Prognosis can change based on the type of neurosyphilis and how early in the course of the disease people with neurosyphilis get diagnosed and treated. Individuals with asymptomatic neurosyphilis or meningeal neurosyphilis usually return to normal health. People with meningovascular syphilis, general paresis, or tabes dorsalis usually do not return to normal health, although they may get much better. Individuals who receive treatment many years after they have been infected have a worse prognosis. Treatment outcome is different for every person.
There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.
Most cases of benign essential blepharospasm are sporadic, which means that the condition occurs in people with no history of this disorder or other forms of dystonia in their family. Less commonly, benign essential blepharospasm has been found to run in families. In some of these families, the condition appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. However, no causative genes have been identified.
The causes of primary biliary cirrhosis are unknown. Most research suggests it is an autoimmune disease. The immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. An autoimmune disease is a disorder in which the bodys immune system attacks the bodys own cells and organs. In primary biliary cirrhosis, the immune system attacks the small bile ducts in the liver. Genetics, or inherited genes, can make a person more likely to develop primary biliary cirrhosis. Primary biliary cirrhosis is more common in people who have a parent or siblingparticularly an identical twinwith the disease. In people who are genetically more likely to develop primary biliary cirrhosis, environmental factors may trigger or worsen the disease, including - exposure to toxic chemicals - smoking - infections Genetics can also make some people more likely to develop other autoimmune diseases, such as - autoimmune hepatitis, a disease in which the bodys immune system attacks liver cells - Sjgrens syndrome, a condition in which the immune system attacks the glands that produce tears and saliva - autoimmune thyroid dysfunctions, conditions in which the immune system attacks the thyroid gland
This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. Affected people typically have no history of the disorder in their family.
Surgical treatment in the form of microvascular decompression, which relieves pressure on the facial nerve, will relieve hemifacial spasm in many cases. This intervention has significant potential side-effects, so risks and benefits have to be carefully balanced. Other treatments include injections of botulinum toxin into the affected areas, which is the most effective therapy and the only one used in most cases. Drug therapy is generally not effective.
There is no cure for lissencephaly, but children can show progress in their development over time. Supportive care may be needed to help with comfort, feeding, and nursing needs. Seizures may be particularly problematic but anticonvulsant medications can help. Progressive hydrocephalus (an excessive accumulation of cerebrospinal fluid in the brain) is very rare, seen only in the subtype of Walker-Warburg syndrome, but may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.
Bjrnstad syndrome 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.
These resources address the diagnosis or management of 7q11.23 duplication syndrome: - Cardiff University (United Kingdom): Copy Number Variant Research - Gene Review: Gene Review: 7q11.23 Duplication Syndrome - Genetic Testing Registry: Williams-Beuren region duplication syndrome - University of Antwerp (Belgium): 7q11.23 Research Project - University of Louisville: 7q11.23 Duplication Syndrome Research - University of Toronto: 7q11.23 Duplication Syndrome Research 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
Brody myopathy is a rare condition, although its exact prevalence is unknown.
Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood. Recessive multiple epiphyseal dysplasia is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine (scoliosis). About 50 percent of individuals with recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common.
Summary : A bowel movement is the last stop in the movement of food through your digestive tract. Your stool passes out of your body through the rectum and anus. Another name for stool is feces. It is made of what is left after your digestive system (stomach, small intestine, and colon) absorbs nutrients and fluids from what you eat and drink. Sometimes a bowel movement isn't normal. Diarrhea happens when stool passes through the large intestine too quickly. Constipation occurs when stool passes through the large intestine too slowly. Bowel incontinence is a problem controlling your bowel movements. Other abnormalities with bowel movements may be a sign of a digestive problem. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
These resources address the diagnosis or management of Muenke syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Gene Review: Gene Review: Muenke Syndrome - Genetic Testing Registry: Muenke syndrome - MedlinePlus Encyclopedia: Craniosynostosis 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
LCH in organs such as the skin, bones, lymph nodes, or pituitary gland usually gets better with treatment and is called "low- risk". LCH in the spleen, liver, or bone marrow is harder to treat and is called "high-risk". The prognosis (chance of recovery) and treatment options depend on the following: - Whether there are mutations of the BRAF gene. - How old the patient is when diagnosed with LCH. - How many organs or body systems the cancer affects. - Whether the cancer is found in the liver, spleen, bone marrow, or certain bones in the skull. - How quickly the cancer responds to initial treatment. - Whether the cancer has just been diagnosed or has come back (recurred). In infants up to one year of age, LCH may go away without treatment.
What are the signs and symptoms of Brooke-Spiegler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brooke-Spiegler syndrome. 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) Adult onset - Autosomal dominant inheritance - Milia - Neoplasm - 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.
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.
There is no vaccine against Eastern equine encephalitis virus (EEEV) for humans. Reducing exposure to mosquitoes is the best defense against infection with EEEV and other mosquito-borne viruses. There are several approaches you and your family can use to prevent and control mosquito-borne diseases. - Use repellent: When outdoors, use insect repellent containing DEET, picaridin, IR3535 or oil of lemon eucalyptus on exposed skin and/or clothing. The repellent/insecticide permethrin can be used on clothing to protect through several washes. Always follow the directions on the package. - Wear protective clothing: Wear long sleeves and pants when weather permits. - Install and repair screens: Have secure, intact screens on windows and doors to keep mosquitoes out. - Keep mosquitoes from laying eggs near you: Mosquitoes can lay eggs even in small amounts of standing water. Get rid of mosquito breeding sites by emptying standing water from flower pots, buckets, barrels, and tires. Change the water in pet dishes and replace the water in bird baths weekly. Drill holes in tire swings so water drains out. Empty children's wading pools and store on their side after use.
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.
Mosaic trisomy 8 is a chromosome disorder defined by the presence of three copies of chromosome 8 in some cells of the body. It is characterized by distinctive facial features; mild intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females. In the absence of serious problems, life expectancy is normal. Complete trisomy 8 is lethal and often results in miscarriage during the first trimester. Mosaic trisomy 8 is the result of a random error in the egg or sperm. Diagnosis is based on karyotype analysis. Mosaic trisomy 8 almost always occurs in individuals with no family history of the condition.
Treatment is symptomatic and may include medication therapies with nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids to reduce swelling, as well as antibiotics and immunosuppressants. Surgery may be recommended to relieve pressure on the facial nerves and to reduce swollen tissue, but its effectiveness has not been established. Massage and electrical stimulation may also be prescribed.
Talk with your childs health care provider after your childs UTI is gone. The health care provider may want to do more tests to check for VUR or a blockage in the urinary tract. Repeated infections in an abnormal urinary tract may cause kidney damage. The kinds of tests ordered will depend on the child and the type of infection. VUR and blockages in the urinary tract often go away as a child grows. In some cases, surgery may be needed to correct any defects in the urinary tract. More information about tests for VUR or a blockage in the urinary tract is provided in the NIDDK health topic, Urinary Tract Infections in Children.
Anyone can get hepatitis B, but some people are at higher risk, including - people who were born to a mother with hepatitis B - people who have close household contact with someone infected with the hepatitis B virus - people who have lived in parts of the world where hepatitis B is common, including most Asian and Pacific Island nations - people who are exposed to blood or body fluids at work - people on hemodialysis - people whose sex partner(s) has hepatitis B - people who have had more than one sex partner in the last 6 months or have a history of sexually transmitted disease - injection drug users - men who have sex with men
Summary : Many men have sexual problems. They become more common as men age. Problems can include - Erectile dysfunction - Reduced or lost interest in sex - Problems with ejaculation - Low testosterone Stress, illness, medicines, or emotional problems may also be factors. Occasional problems with sexual function are common. If problems last more than a few months or cause distress for you or your partner, you should see your health care provider.
Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition mainly affects people that live in tropical regions.
SHORT syndrome is a rare condition; its prevalence is unknown. Only a few affected individuals and families have been reported worldwide.
Approximately 5 million people in the United States have heart failure. It contributes to 300,000 deaths each year. It is the number one cause of hospitalizations for people over the age of 65.
People who enroll in Medicare can register with www.MyMedicare.gov, a secure online service, and use the site to access their personal Medicare information at any time. People can view their claims and order history, and see a description of covered preventive services.
What are the signs and symptoms of Akesson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Akesson syndrome. 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) Abnormality of the endocrine system - Cutis gyrata of scalp - Intellectual disability - 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.