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Assistive Listening Devices Assistive listening devices devices can help you hear in certain listening environments. These can include telephone and cell phone amplifying devices, smart phone or tablet "apps," and closed circuit systems (induction coil loops) in places of worship, theaters, and auditoriums. TV listening systems help you listen to the television or the radio without being bothered by other noises around you. Some hearing aids can be plugged into televisions or stereos to help you hear better. Cochlear Implant If your hearing loss is severe and of a certain type, your doctor may suggest that you talk to an otolaryngologist about a cochlear implant. An otolaryngologist is a surgeon who specializes in ear, nose, and throat diseases. A cochlear implant is a small electronic device that the surgeon places under the skin and behind the ear. The device picks up sounds, changes them to electrical signals, and sends them past the non-working part of the inner ear and on to the brain. Hearing through a cochlear implant sounds different from normal hearing, but it lets many people communicate orally in person and over the telephone, and perceive sounds in the environment.
How is rickets diagnosed? Rickets is typically diagnosed using specific blood tests and x-rays. Blood tests usually show low levels of calcium and phosphorus and high levels of alkaline phosphatase. Bone x-rays may show areas with calcium loss or changes in bone shape. Bone biopsies are rarely performed, but can confirm the diagnosis of rickets.
The risk of sudden cardiac arrest (SCA) increases: With age If you are a man. Men are more likely than women to have SCA. Some studies show that blacksparticularly those with underlying conditions such as diabetes, high blood pressure, heart failure, and chronic kidney disease or certain cardiac findings on tests such as an electrocardiogramhave a higher risk forSCA. Major Risk Factor The major risk factor for SCA is coronary heart disease. Most people who have SCA have some degree of coronary heart disease; however, many people may not know that they have coronary heart disease until SCA occurs. Usually their coronary heart disease is silentthat is, it has no signs or symptoms. Because of this, doctors and nurses have not detected it. Many people who have SCA also have silent, or undiagnosed, heart attacks before sudden cardiac arrest happens. These people have no clear signs of heart attack, and they dont even realize that theyve had one. Read more about coronary heart disease risk factors. Other Risk Factors Other risk factors for SCA include: A personal history of arrhythmias A personal or family history of SCA or inherited disorders that make you prone toarrhythmias Drug or alcohol abuse Heart attack Heart failure
In 15 to 40 percent of all cases of classic Paget disease of bone, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that having one copy of an altered gene in each cell is sufficient to cause the disorder. In the remaining cases, the inheritance pattern of classic Paget disease of bone is unclear. Many affected people have no family history of the disease, although it sometimes clusters in families. Studies suggest that close relatives of people with classic Paget disease of bone are 7 to 10 times more likely to develop the disease than people without an affected relative. Early-onset Paget disease of bone is inherited in an autosomal dominant pattern. In people with this form of the disorder, having one altered copy of the TNFRSF11A gene in each cell is sufficient to cause the disease.
Many arrhythmias cause no signs or symptoms. When signs or symptoms are present, the most common ones are: Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or fast) A slow heartbeat An irregular heartbeat Feeling pauses between heartbeats More serious signs and symptoms include: Anxiety Weakness, dizziness, and light-headedness Fainting or nearly fainting Sweating Shortness of breath Chest pain
HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic, progressive disease of the nervous system that affects less than 2 percent of people with HTLV-1 infection. Signs and symptoms vary but may include progressive weakness, stiff muscles, muscle spasms, backache, a 'weak' bladder, and constipation. The HTLV-1 virus can be transmitted from mother to child via breastfeeding or childbirth, from person to person through sexual contact and through blood contact, either by transfusion or by reuse of injection equipment. HTLV infection is not passed from person to person by coughing, sneezing, kissing, cuddling or daily social contact. Screening of donated blood for HTLV-1 has been done in the United States since 1988.
Today, there are more treatments for urinary incontinence than ever before. The choice of treatment depends on the type of bladder control problem you have, how serious it is, and what best fits your lifestyle. As a general rule, the simplest and safest treatments should be tried first. Treatment may include - bladder control training, such as pelvic floor muscle exercises and timed voiding bladder control training, such as pelvic floor muscle exercises and timed voiding - lifestyle changes such as drinking the right amount of fluids, choosing water over other fluids, eating and drinking less caffeine, drinking less alcohol, limiting drinks before bedtime, keeping a healthy weight, and trying not to get constipated lifestyle changes such as drinking the right amount of fluids, choosing water over other fluids, eating and drinking less caffeine, drinking less alcohol, limiting drinks before bedtime, keeping a healthy weight, and trying not to get constipated - medicines, medical devices, nerve stimulation, and surgery, if lifestyle changes and bladder training dont help. medicines, medical devices, nerve stimulation, and surgery, if lifestyle changes and bladder training dont help. Learn more about how urinary incontinence is treated in men. Learn more about how urinary incontinence is treated in women.
The prevalence of progressive external ophthalmoplegia is unknown.
Apraxia (called "dyspraxia" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain. There are several kinds of apraxia, which may occur alone or together. The most common is buccofacial or orofacial apraxia, which causes the inability to carry out facial movements on command such as licking lips, whistling, coughing, or winking. Other types of apraxia include limb-kinetic apraxia (the inability to make fine, precise movements with an arm or leg), ideomotor apraxia (the inability to make the proper movement in response to a verbal command), ideational apraxia (the inability to coordinate activities with multiple, sequential movements, such as dressing, eating, and bathing), verbal apraxia (difficulty coordinating mouth and speech movements), constructional apraxia (the inability to copy, draw, or construct simple figures), and oculomotor apraxia (difficulty moving the eyes on command). Apraxia may be accompanied by a language disorder called aphasia. Corticobasal ganglionic degeneration is a disease that causes a variety of types of apraxia, especially in elderly adults.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to MID in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure the vascular dementias, such as MID.
Chondrocalcinosis 2 is a rare condition characterized by the accumulation of calcium pyrophosphate dihydrate crystals in and around the joints. A buildup of these crystals can lead to progressive (worsening over time) joint damage. Some affected people may not have any signs or symptoms of the condition. Others experience chronic joint pain or sudden, recurrent episodes of pain, stiffness and/or swelling of the joints. Although chondrocalcinosis 2 can affect people of all ages, it is most commonly diagnosed in early adulthood (age 20-40 years). It is caused by changes (mutations) in the ANKH gene and is inherited in an autosomal dominant manner. There is no cure for the condition and treatment is symptomatic.
Most cases of 47,XYY syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of sperm cells. An error in cell division called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra Y chromosome in each of the body's cells. 46,XY/47,XYY mosaicism is also not inherited. It occurs as a random event during cell division in early embryonic development. As a result, some of an affected person's cells have one X chromosome and one Y chromosome (46,XY), and other cells have one X chromosome and two Y chromosomes (47,XYY).
When caused by mutations in the EIF2AK4 gene, PVOD 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. In contrast, when caused by mutations in another gene, the condition can have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, one parent of an affected individual typically has increased blood pressure in the vessels of the lungs.
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 size of the tumor and whether it has spread to the lymph nodes or other parts of the body). - Where the cancer is in the body. - Whether the cancer has just been diagnosed or has recurred (come back). - The patient's age and general health. Prognosis also depends on how deeply the tumor has grown into the skin.
The symptoms of Lujo hemorrhagic fever, as described in the five patients in the original cluster outbreak, resemble those of severe Lassa Fever. After an incubation period of 7 to 13 days, the clinical course started by a non-specific febrile illness accompanied by headache and muscle pain. The disease increases in severity, with: - a morbilliform rash of the face and trunk - face and neck swelling - pharyngitis (sore throat) - diarrhea Bleeding was not a prominent feature during the illness. In the fatal cases (4/5 patients), a transient improvement was followed by: - rapid deterioration with respiratory distress - neurological signs and circulatory collapse Death occurred 10 to 13 days after onset. Low blood platelets, low white blood cell count (at the onset, rising later on) and elevated liver function values were present in all patients. Since Arenaviruses may enter the fetus through infection of the mother, and anectodal evidence suggests that infected pregnant women may suffer miscarriages, it is reasonable to assume that both infection of the fetus and miscarriage may be associated with Lujo infection in the mother.
Osteoporosis-pseudoglioma syndrome is caused by mutations in the LRP5 gene. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein helps regulate bone mineral density and plays a critical role in development of the retina. LRP5 gene mutations that cause osteoporosis-pseudoglioma syndrome prevent cells from making any LRP5 protein or lead to a protein that cannot function. Loss of this protein's function disrupts the chemical signaling pathways that are needed for the formation of bone and for normal retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome.
Acute or short-term low back pain generally lasts from a few days to a few weeks. Most acute back pain is the result of trauma to the lower back or a disorder such as arthritis. Pain from trauma may be caused by a sports injury, work around the house or in the garden, or a sudden jolt such as a car accident or other stress on spinal bones and tissues. Symptoms may range from muscle ache to shooting or stabbing pain, limited flexibility and range of motion, or an inability to stand straight. Chronic back pain is pain that persists for more than 3 months. It is often progressive and the cause can be difficult to determine.
The prognosis is dependent upon the underlying disorder. Some of the disorders that are associated with cerebellar hypoplasia are progressive, which means the condition will worsen over time, and will most likely have a poor prognosis. Other disorders that feature cerebellar hypoplasia are not progressive, such as those that are the result of abnormal brain formation during fetal development, and might have a better outcome.
Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. Over time, your heart weakens and cannot do its job and you can develop heart failure. Symptoms of PH include - Shortness of breath during routine activity, such as climbing two flights of stairs - Tiredness - Chest pain - A racing heartbeat - Pain on the upper right side of the abdomen - Decreased appetite As PH worsens, you may find it hard to do any physical activities. There are two main kinds of PH. One runs in families or appears for no known reason. The other kind is related to another condition, usually heart or lung disease. There is no cure for PH. Treatments can control symptoms. They involve treating the heart or lung disease, medicines, oxygen, and sometimes lung transplantation. NIH: National Heart, Lung, and Blood Institute
More than 90 percent of all cases of Refsum disease result from mutations in the PHYH gene. The remaining cases are caused by mutations in a gene called PEX7. The signs and symptoms of Refsum disease result from the abnormal buildup of a type of fatty acid called phytanic acid. This substance is obtained from the diet, particularly from beef and dairy products. It is normally broken down through a process called alpha-oxidation, which occurs in cell structures called peroxisomes. These sac-like compartments contain enzymes that process many different substances, such as fatty acids and certain toxic compounds. Mutations in either the PHYH or PEX7 gene disrupt the usual functions of peroxisomes, including the breakdown of phytanic acid. As a result, this substance builds up in the body's tissues. The accumulation of phytanic acid is toxic to cells, although it is unclear how an excess of this substance affects vision and smell and causes the other specific features of Refsum disease.
These resources address the diagnosis or management of Bartter syndrome: - Genetic Testing Registry: Bartter syndrome antenatal type 1 - Genetic Testing Registry: Bartter syndrome antenatal type 2 - Genetic Testing Registry: Bartter syndrome type 3 - Genetic Testing Registry: Bartter syndrome type 4 - Genetic Testing Registry: Bartter syndrome, type 4b - Genetic Testing Registry: Bartter's 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
To diagnose kidney stones, your doctor will do a physical exam and ask about your medical history. The doctor may ask if you have a family history of kidney stones and about your diet, digestive problems, and other health problems. The doctor may perform urine, blood, and imaging tests to complete the diagnosis. - Urine tests can show whether you have an infection or your urine contains substances that form stones. - Blood tests can show problems that lead to kidney stones. - Imaging tests are used to find the location of kidney stones in your body. The tests may also be able to show problems that caused a kidney stone to form.
Self-harm refers to a person's harming their own body on purpose. About 1 in 100 people hurts himself or herself in this way. More females hurt themselves than males. A person who self-harms usually does not mean to kill himself or herself. But they are at higher risk of attempting suicide if they do not get help. Self-harm tends to begin in teen or early adult years. Some people may engage in self-harm a few times and then stop. Others engage in it more often and have trouble stopping. Examples of self-harm include - Cutting yourself (such as using a razor blade, knife, or other sharp object to cut the skin) - Punching yourself or punching things (like a wall) - Burning yourself with cigarettes, matches, or candles - Pulling out your hair - Poking objects through body openings - Breaking your bones or bruising yourself Many people cut themselves because it gives them a sense of relief. Some people use cutting as a means to cope with a problem. Some teens say that when they hurt themselves, they are trying to stop feeling lonely, angry, or hopeless. It is possible to overcome the urge to hurt yourself. There are other ways to find relief and cope with your emotions. Counseling may help. Dept. of Health and Human Services, Office on Women's Health
What are the signs and symptoms of Beardwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beardwell 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) Osteoarthritis 90% Obesity 50% Palmoplantar keratoderma 50% Autosomal dominant inheritance - Punctate palmar and solar hyperkeratosis - Vertebral hyperostosis - 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.
High blood cholesterol usually has no signs or symptoms. Thus, many people don't know that their cholesterol levels are too high. If you're 20 years old or older, have your cholesterol levels checked at least once every 5 years. Talk with your doctor about how often you should be tested.
Fryns syndrome appears to be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. However, no associated gene has been identified. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
How might microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) be treated? At this time there are no specific treatments for MOPD1. Treatment is generally supportive. The prognosis is poor for affected individuals, with most of the reported patients dying within the first year of life.
Mutations in the SLC30A10 gene cause HMDPC. This gene provides instructions for making a protein that transports manganese across cell membranes. Manganese is important for many cellular functions, but large amounts are toxic, particularly to brain and liver cells. The SLC30A10 protein is found in the membranes surrounding liver cells and nerve cells in the brain, as well as in the membranes of structures within these cells. The protein protects these cells from high concentrations of manganese by removing manganese when levels become elevated. Mutations in the SLC30A10 gene impair the transport of manganese out of cells, allowing the element to build up in the brain and liver. Manganese accumulation in the brain leads to the movement problems characteristic of HMDPC. Damage from manganese buildup in the liver leads to liver abnormalities in people with this condition. High levels of manganese help increase the production of red blood cells, so excess amounts of this element also result in polycythemia.
Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGF-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGF-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix). Within cells, the TGF-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGF-1 protein that is always turned on (active). Overactive TGF-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease. Some individuals with Camurati-Engelmann disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.
Pontocerebellar hypoplasia type 1 (PCH1) is a genetic condition that affects the development of the brain. Individuals with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons, which is located at the base of the brain in an area called the brainstem, transmits signals from the cerebellum to the rest of the brain. Individuals with PCH1 also experience a degeneration of the anterior horn cells. Because of the anterior horn cell involvement, this condition bears a resemblance to infantile spinal muscular atrophy, with severe muscle weakness. Other signs and symptoms of PCH1 include very weak muscle tone (hypotonia), joint deformities called contractures, a small head size (microcephaly), and breathing problems that are present at birth. Mutations in the VRK1 gene have been identified in at least one family with PCH1. The condition is inherited in an autosomal recessive manner. Most children with PCH1 live only into infancy.
Cigarette smoking is the number one cause of lung cancer. Scientists have reported widely on the link between cancer and smoking since the 1960s. Since then, study after study has provided more proof that cigarette smoking is the primary cause of lung cancer. Before cigarette smoking became popular after World War I, doctors rarely, if ever, saw patients with lung cancer. But today, lung cancer is the leading cause of death by cancer. Over 85 percent of people with lung cancer developed it because they smoked cigarettes. Using tobacco products has been shown to cause many types of cancer. In fact, smoking tobacco, using smokeless tobacco, and being exposed regularly to second-hand tobacco smoke are responsible for a large number of cancer deaths in the U.S. each year.
Emanuel syndrome is a chromosome disorder that causes problems with physical and intellectual development. Signs and symptoms can vary but may include severe intellectual disability; small head size (microcephaly); failure to thrive; cleft palate or high-arched palate; small jaw (micrognathia); congenital heart defects; and abnormalities of the ears, kidneys, and/or male genitals. It is caused by having extra material from chromosomes 11 and 22 in each cell. Almost all people with Emanuel syndrome inherit the extra chromosome material from an unaffected parent with a balanced translocation. Treatment focuses on the specific signs and symptoms in each person.
What are the signs and symptoms of Ectrodactyly cleft palate syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectrodactyly cleft palate 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 skin - Autosomal dominant inheritance - Cleft palate - Split hand - 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.
What causes sarcoidosis? No one yet knows what causes sarcoidosis. It is thought by most scientists to be a disorder of the immune system, where the body's natural defense system malfunctions. Some physicians believe that sarcoidosis may result from a respiratory infection caused by a virus. Others suspect that exposure to toxins or allergens in the environment is to blame. It's also possible that some people have a genetic predisposition to developing sarcoidosis, which, when combined with an environmental trigger, produces the disease. Studies are ongoing to investigate the genetic and environmental components of this disease.
Palmoplantar keratoderma with deafness is a rare disorder; its prevalence is unknown. At least 10 affected families have been identified.
Behcet's syndrome is a disease that involves vasculitis, which is inflammation of the blood vessels. It causes problems in many parts of the body. The most common symptoms are - Sores in the mouth - Sores on the sex organs - Other skin sores - Swelling of parts of the eye - Pain, swelling and stiffness of the joints More serious problems can include meningitis, blood clots, inflammation of the digestive system and blindness. Doctors aren't sure what causes Behcet's. It is rare in the United States, but is common in the Middle East and Asia. It mainly affects people in their 20s and 30s. Diagnosing Behcet's can take a long time, because symptoms may come and go, and it may take months or even years to have all of the symptoms. There is no cure. Treatment focuses on reducing pain and preventing serious problems. Most people can control symptoms with treatment. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
AMACR deficiency is a rare disorder. Its prevalence is unknown. At least 10 cases have been described in the medical literature.
The exact prevalence of Brugada syndrome is unknown, although it is estimated to affect 5 in 10,000 people worldwide. This condition occurs much more frequently in people of Asian ancestry, particularly in Japanese and Southeast Asian populations. Although Brugada syndrome affects both men and women, the condition appears to be 8 to 10 times more common in men. Researchers suspect that testosterone, a sex hormone present at much higher levels in men, may account for this difference.
Mutations in the MCOLN1 gene cause mucolipidosis type IV. This gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. While its function is not completely understood, mucolipin-1 plays a role in the transport (trafficking) of fats (lipids) and proteins between lysosomes and endosomes. Mucolipin-1 appears to be important for the development and maintenance of the brain and retina. In addition, this protein is likely critical for normal functioning of the cells in the stomach that produce digestive acids. Most mutations in the MCOLN1 gene result in the production of a nonfunctional protein or prevent any protein from being produced. A lack of functional mucolipin-1 impairs transport of lipids and proteins, causing these substances to build up inside lysosomes. Conditions that cause molecules to accumulate inside the lysosomes, including mucolipidosis type IV, are called lysosomal storage disorders. Two mutations in the MCOLN1 gene account for almost all cases of mucolipidosis type IV in people with Ashkenazi Jewish ancestry. It remains unclear how mutations in this gene lead to the signs and symptoms of mucolipidosis type IV.
What are the symptoms of colpocephaly? Colpocephaly is characterized by a small head circumference and in many cases, intellectual disability. Other signs and symptoms may include movement abnormalities, muscle spasms, and seizures. Poor vision, speech and language difficulties, deafness, and chorioretinitis have been described in individual cases. Cases of people with colpocephaly and normal neurological and motor development have also been described.
How is X-linked hypophosphatemia diagnosed? X-linked hypophosphatemia (XLH) is diagnosed based on clinical observations, biochemical testing, imaging, and family history. Observable signs include low growth rate and noticeable bowing of the legs. X-rays provide more information that can rule out other potential causes for these symptoms. Biochemical findings include low concentrations of phosphate in the blood accompanied by unexpectedly normal levels of vitamin Dand calcium. Elevated levels of FGF23 and phosphate excretion can also be measured. Genetic testing is also available, but is not required to make a diagnosis. Is genetic testing available for X-linked hypophosphatemia? X-linked hypophosphatemia is generally diagnosed based upon clinical findings. Genetic testing is available to confirm a suspected diagnosis, but is not required. Available methods include single gene sequencing and deletion/duplication analysis of the PHEX gene. However, these tests are not able to detect a causal genetic change in all people affected with XLH. Panel testing is also available that looks for variants in a number of genes associated with other types of hypophosphatemic rickets.
Mutations in the SLC25A15 gene cause ornithine translocase deficiency. Ornithine translocase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. The SLC25A15 gene provides instructions for making a protein called a mitochondrial ornithine transporter. This protein is needed to move a molecule called ornithine within the mitochondria (the energy-producing centers in cells). Specifically, this protein transports ornithine across the inner membrane of mitochondria to the region called the mitochondrial matrix, where it participates in the urea cycle. Mutations in the SLC25A15 gene result in a mitochondrial ornithine transporter that is unstable or the wrong shape, and which cannot bring ornithine to the mitochondrial matrix. This failure of ornithine transport causes an interruption of the urea cycle and the accumulation of ammonia, resulting in the signs and symptoms of ornithine translocase deficiency.
Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference. The prognosis for babies with Menkes disease is poor. Most children with Menkes disease die within the first decade of life.
Summary : Electric and magnetic fields (EMFs) are areas of energy that surround electrical devices. Everyday sources of EMFs include - Power lines - Electrical wiring - Microwave ovens - Computers - Cell phones Some people worry about EMF exposure and cancer. Some studies have found a link between EMF exposure and a higher risk of childhood leukemia, but other studies have not. Other studies have not found proof that EMF exposure causes other childhood cancers. Studies in adults did not prove that EMF exposure causes cancer. Some people worry that wireless and cellular phones cause cancer. They give off radio-frequency energy (RF), a form of electromagnetic radiation. Scientists need to do more research on this before they can say for sure. NIH: National Institute of Environmental Health Sciences
The zoonotic hookworm larvae that cause cutaneous larva migrans (CLM) usually do not survive more than 5 – 6 weeks in the human host. In most patients with CLM, the signs and symptoms resolve without medical treatment. However, treatment may help control symptoms and help prevent secondary bacterial infections. Antiparasitic treatments may be prescribed by your health care provider. More on: Resources For Health Professionals: Treatment
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. In 80% of cases, Alport syndrome is inherited in an X-linked manner and is caused by mutations in the COL4A5 gene. In the remaining cases, it may be inherited in either an autosomal recessive or autosomal dominant manner and caused by mutations in the COL4A3 or COL4A4 genes. Treatment may include use of a hearing aid; hemodialysis and peritoneal dialysis to treat those with end-stage renal failure; and kidney transplantation.
How is familial isolated hyperparathyroidism inherited? Familial isolated hyperparathyroidism (FIHP) is typically 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 or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene from the affected parent.
Cluttering is a disorder that affects the way a person speaks. It is characterized by a rapid speaking rate and inability to maintain normally expected sound, syllable, phrase, and pausing patterns while speaking. Other symptoms may include stuttering; language or phonological errors (problems organizing sounds); and attention deficits. The disorder seems to result from disorganized speech planning, talking too fast or in spurts, or simply being unsure of what one wants to say. Therapy generally focuses on the symptoms present in each individual and may include slowing the rate of speech and clearly producing speech sounds (articulating). Articulation and language problems are often reduced if the affected individual can achieve a slower rate of speech.
What causes malakoplakia? The cause of malakoplakia is unknown, but is thought to be associated with immunodeficiency or autoimmune disorders, such as hypogammaglobinlinemia, therapies that suppress the immune system, cancer, a chronic debilitating disorder, rheumatoid arthritis, and AIDS.
What causes keratoconus? The exact cause of keratoconus is unknown. Both genetic and environmental factors may play a role in the development of keratoconus. The genetic factors involve abnormalities in the structure of collagen, which result in a weak and flexible cornea. Keratoconus is more common in people with Down syndrome, Marfan syndrome, and Leber congenital amaurosis, and certain genetic conditions. In these cases, the cause depends on the specific condition. Environmental factors may include living in sunny, hot areas of the world, while eye-rubbing is a major behavioral factor in the disease. Malfunctioning enzymes that normally help maintain the health of the cornea may play a role. All of these factors contribute to the main problem in keratoconus, which is the defective collagen structure that results in thinning and irregularity of the cornea. Keratoconus occurs more frequently in patients with atopy (asthma and eczema) or severe ocular allergies. It may also be linked to hormonal factors because it is more frequent during puberty and also may progress during pregnancy.
People are not often aware they have gum disease until it is advanced. Any of these symptoms may be a sign of a serious problem and should be checked by a dentist. - bad breath that won't go away - red or swollen gums - tender or bleeding gums - painful chewing - loose teeth - sensitive teeth - receding gums or longer appearing teeth bad breath that won't go away red or swollen gums tender or bleeding gums painful chewing loose teeth sensitive teeth receding gums or longer appearing teeth Sometimes gum disease has no clear symptoms.
Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax. Achalasia is typically diagnosed in individuals between 25 and 60 years of age. The exact etiology is unknown, however, symptoms are caused by damage to the nerves of the esophagus. Familial studies have shown evidence of a potential genetic influence. When a genetic influence is suspected, achalasia is called familial esophageal achalasia. Treatment is aimed at reducing the pressure at the lower esophageal sphincter and may include Botox, medications, or surgery.
The prevalence of TH deficiency is unknown.
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. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
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.
The prognosis for individuals with Bell's palsy is generally very good. The extent of nerve damage determines the extent of recovery. With or without treatment, most individuals begin to get better within 2 weeks after the initial onset of symptoms and recover some or all facial function within 3 to 6 months.
These resources address the diagnosis or management of Warsaw breakage syndrome: - Centers for Disease Control and Prevention: Hearing Loss in Children - Genetic Testing Registry: Warsaw breakage syndrome - MedlinePlus Encyclopedia: Hearing Loss--Infants 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
Kabuki syndrome occurs in approximately 1 in 32,000 newborns.
Zika is a virus that is spread by mosquitoes. A pregnant mother can pass it to her baby during pregnancy or around the time of birth. A man can spread it to his partner during sexual contact. There have also been reports that the virus has spread through blood transfusions. There have been outbreaks of Zika virus in Africa, Southeast Asia, the Pacific Islands, parts of the Caribbean, and Central and South America. Most people who get the virus do not get sick. One in five people do get symptoms, which can include a fever, rash, joint pain, and conjunctivitis (pinkeye). Symptoms are usually mild, and start 2 to 7 days after being bitten by an infected mosquito. A blood test can tell whether you have the infection. There are no vaccines or medicines to treat it. Drinking lots of fluids, resting, and taking acetaminophen might help. Zika can cause microcephaly (a serious birth defect of the brain) and other problems in babies whose mothers were infected while pregnant. The Centers for Disease Control and Prevention recommends that pregnant women do not travel to areas where there is a Zika virus outbreak. If you do decide to travel, first talk to your doctor. You should also be careful to prevent mosquito bites: - Use insect repellent - Wear clothes that cover your arms, legs, and feet - Stay in places that have air conditioning or that use window and door screens Centers for Disease Control and Prevention
The exact prevalence of antiphospholipid syndrome is unknown. This condition is thought to be fairly common, and may be responsible for up to one percent of all thromboses. It is estimated that 20 percent of individuals younger than age 50 who have a stroke have antiphospholipid syndrome. Ten to 15 percent of people with systemic lupus erythematosus have antiphospholipid syndrome. Similarly, 10 to 15 percent of women with recurrent miscarriages likely have this condition. Approximately 70 percent of individuals diagnosed with antiphospholipid syndrome are female.
The prevalence of SCA2 is unknown. This condition is estimated to be one of the most common types of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare. SCA2 is more common in Cuba, particularly in the Holgun province, where approximately 40 per 100,000 individuals are affected.
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 result from new mutations in the gene and occur in people with no history of the disorder in their family. Autosomal recessive inheritance of Larsen syndrome has been reported in a small number of families. Autosomal recessive 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. In some of these cases, the appearance of autosomal recessive inheritance may actually result from multiple siblings in a family each inheriting a single altered gene from an unaffected parent who has an FLNB mutation only in some or all of their sperm or egg cells. When a mutation is present only in reproductive cells, it is known as germline mosaicism. A few rarer conditions with overlapping signs and symptoms and autosomal recessive inheritance have sometimes been diagnosed as Larsen syndrome, but they are now generally considered to be different disorders because they are typically more severe and are not caused by FLNB gene mutations.
- Dumping syndrome occurs when food, especially sugar, moves too fast from the stomach to the duodenumthe first part of the small intestinein the upper gastrointestinal (GI) tract. - Dumping syndrome has two forms, based on when symptoms occur: - early dumping syndromeoccurs 10 to 30 minutes after a meal - late dumping syndromeoccurs 2 to 3 hours after a meal - People who have had surgery to remove or bypass a significant part of the stomach are more likely to develop dumping syndrome. Other conditions that impair how the stomach stores and empties itself of food, such as nerve damage caused by esophageal surgery, can also cause dumping syndrome. - Early dumping syndrome symptoms include - nausea - vomiting - abdominal pain and cramping - diarrhea - feeling uncomfortably full or bloated after a meal - sweating - weakness - dizziness - flushing, or blushing of the face or skin - rapid or irregular heartbeat - The symptoms of late dumping syndrome include - hypoglycemia - sweating - weakness - rapid or irregular heartbeat - flushing - dizziness - Treatment for dumping syndrome includes changes in eating, diet, and nutrition; medication; and, in some cases, surgery. Many people with dumping syndrome have mild symptoms that improve over time with simple dietary changes.
What are the signs and symptoms of Retinoschisis autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinoschisis autosomal dominant. 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 macular pigmentation - Autosomal dominant inheritance - Peripheral retinal degeneration - Retinoschisis - 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.
People with 22q11.2 duplication have an extra copy of some genetic material at position q11.2 on chromosome 22. In most cases, this extra genetic material consists of a sequence of about 3 million DNA building blocks (base pairs), also written as 3 megabases (Mb). The 3 Mb duplicated region contains 30 to 40 genes. For many of these genes, little is known about their function. A small percentage of affected individuals have a shorter duplication in the same region. Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition.
Horner syndrome is usually not inherited and occurs in individuals with no history of the disorder in their family. Acquired Horner syndrome and most cases of congenital Horner syndrome have nongenetic causes. Rarely, congenital Horner syndrome is passed down within a family in a pattern that appears to be autosomal dominant, which means one copy of an altered gene in each cell is sufficient to cause the disorder. However, no genes associated with Horner syndrome have been identified.
What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by changes (mutations) in the NF1 gene. NF1 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in NF1 result in an abnormal protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in neurofibromatosis type 1. People with neurofibromatosis type 1 are typically born with one mutated copy of the NF1 gene in each cell and are, therefore, genetically predisposed to develop the tumors associated with the condition. For a tumor to form, two copies of the NF1 gene must be altered. The mutation in the second copy of the NF1 gene is considered a somatic mutation because it occurs during a person's lifetime and is not inherited. Almost everyone who is born with one NF1 mutation acquires a second mutation in many cells and develops the tumors characteristic of neurofibromatosis type 1.
Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain. Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere (called unilateral clefts) are often paralyzed on one side of the body, but may have average to near-average intelligence. Individuals with schizencephaly may also have an abnormally small head, cognitive delay and impairment, partial or complete paralysis, or poor muscle tone. Most will experience seizures. Some individuals may have an excessive accumulation of fluid in the brain called hydrocephalus.
Keeping the proper level of potassium in the blood is essential. Potassium keeps the heart beating regularly and muscles working right. Problems can occur when blood potassium levels are either too low or too high. Damaged kidneys allow potassium to build up in the blood, causing serious heart problems. Potassium is found in many fruits and vegetables, such as bananas, potatoes, avocados, and melons. People with advanced CKD may need to avoid some fruits and vegetables. Blood tests can indicate when potassium levels have climbed above normal range. A renal dietitian can help people with advanced CKD find ways to limit the amount of potassium they eat. The potassium content of potatoes and other vegetables can be reduced by boiling them in water. The following table gives examples of some high-potassium foods and suggestions for low-potassium alternatives for people with advanced CKD. High- and Low-potassium Foods High-potassium Foods Low-potassium Alternatives Oranges and orange juice Melons Apricots Bananas Potatoes Tomatoes Sweet potatoes Cooked spinach Cooked broccoli Beans (baked, kidney, lima, pinto) Apples and apple juice Cranberries and cranberry juice Canned pears Strawberries, blueberries, raspberries Plums Pineapple Cabbage Boiled Cauliflower
Hemolytic anemia can affect people of all ages and races and both sexes. Some types of hemolytic anemia are more likely to occur in certain populations than others. For example, glucose-6-phosphate dehydrogenase (G6PD) deficiency mostly affects males of African or Mediterranean descent. In the United States, the condition is more common among African Americans than Caucasians. In the United States, sickle cell anemia mainly affects African Americans.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to syncope in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat syncope.
How is Liddle syndrome inherited? Liddle syndrome is inherited in an autosomal dominant manner. This means that only one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated copy of the gene may be inherited from an affected parent or occur for the first time in an affected individual. Individuals with an autosomal dominant condition have a 50% (1 in 2) risk to pass the mutated copy of the gene on to each of his/her children.
Erythema multiforme (EM) refers to a group of hypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN).
People at risk for ARDS have a condition or illness that can directly or indirectly injure their lungs. Direct Lung Injury Conditions that can directly injure the lungs include: Pneumonia. This is an infection in the lungs. Breathing in harmful fumes or smoke. Inhaling vomited stomach contents from the mouth. Using a ventilator. This is a machine that helps people breathe; rarely, it can injure the lungs. Nearly drowning. Indirect Lung Injury Conditions that can indirectly injure the lungs include: Sepsis. This is a condition in which bacteria infect the bloodstream. Severe bleeding caused by an injury to the body or having many blood transfusions. An injury to the chest or head, such as a severe blow. Pancreatitis (PAN-kre-a-TI-tis). This is a condition in which the pancreas becomes irritated or infected. The pancreas is a gland that releases enzymes and hormones. Fat embolism (EM-bo-lizm). This is a condition in which fat blocks an artery. A physical injury, like a broken bone, can lead to a fat embolism. Drug reaction.
The National Institute of Neurological Disorders and Stroke (NINDS) has joined with other institutes of the National Institutes of Health (NIH) to form a trans-NIH working group to coordinate and fund research into the disease mechanisms of sarcoidosis, predisposing factors, genetic underpinnings, and the potential for clinical therapies. Grants are supporting research at major medical institutions across the country. The outcomes of this research will be better ways to diagnose, treat, and ultimately cure sarcoidosis and neurosarcardoisis.
These resources address the diagnosis or management of autosomal dominant congenital stationary night blindness: - Genetic Testing Registry: Congenital stationary night blindness 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 main symptoms of cyclic vomiting syndrome are severe nausea and sudden vomiting lasting hours to days. A person may also experience one or more of the following symptoms: - retching, or making an attempt to vomit - heaving or gagging - lack of appetite - abdominal pain - diarrhea - fever - dizziness - headache - sensitivity to light Intensity of symptoms will vary as a person cycles through four distinct phases of an episode: - Prodrome phase. During the prodrome phase, the person feels that an episode of nausea and vomiting is about to start. Often marked by intense sweating and nauseawith or without abdominal painthis phase can last from a few minutes to several hours. The person may appear unusually pale. - Vomiting phase. This phase consists of intense nausea, vomiting, and retching. Periods of vomiting and retching can last 20 to 30 minutes at a time. The person may be subdued and responsive, immobile and unresponsive, or writhing and moaning with intense abdominal pain. An episode can last from hours to days. - Recovery phase. This phase begins when the vomiting and retching stop and the nausea subsides. Improvement of symptoms during the recovery phase can vary. Healthy color, appetite, and energy return gradually or right away. - Well phase. This phase occurs between episodes when no symptoms are present.
How might an acanthoma be treated? Acanthomas are considered benign, but treatment may be done for cosmetic reasons or to relieve any associated symptoms. Because acanthomas are quite rare, there are no established guidelines for treatment. Treatment may depend on the type, number, and location of acanthomas. For example, a single acanthoma may be removed by surgery, whereas multiple acanthomas may be treated with cryosurgery or the use of the medication fluorouracil cream.
Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the premature fusion of skull bones and affects the development of bones in the feet.
These resources address the diagnosis or management of mycosis fungoides: - Cancer Research UK: Treatments for Cutaneous T-Cell Lymphoma - Genetic Testing Registry: Mycosis fungoides - Lymphoma Research Foundation: Cutaneous T-Cell Lymphoma Treatment Options - National Cancer Institute: Mycosis Fungoides and the Szary Syndrome Treatment 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
Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.
Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. They generally have small extra bones in their wrists and ankles that are visible on x-ray images. The tips of their fingers, especially the thumbs, are typically blunt and square-shaped (spatulate). People with Larsen syndrome may also have an unusually large range of joint movement (hypermobility) and short stature. They can also have abnormal curvature of the spine (kyphosis or scoliosis) that may compress the spinal cord and lead to weakness of the limbs. Characteristic facial features include a prominent forehead (frontal bossing), flattening of the bridge of the nose and of the middle of the face (midface hypoplasia), and wide-set eyes (ocular hypertelorism). Some people with Larsen syndrome have an opening in the roof of the mouth (a cleft palate) or hearing loss caused by malformations in the tiny bones in the ears (ossicles). Some affected individuals experience respiratory problems as a result of weakness of the airways that can lead to partial closing, short pauses in breathing (apnea), and frequent respiratory infections. People with Larsen syndrome can survive into adulthood and intelligence is unaffected.
Mutations in the WAS gene cause X-linked thrombocytopenia. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling activates the cell when it is needed and triggers its movement and attachment to other cells and tissues (adhesion). In white blood cells, which protect the body from infection, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse). WAS gene mutations that cause X-linked thrombocytopenia typically lead to the production of an altered protein. The altered WASP has reduced function and cannot efficiently relay signals from the cell membrane to the actin cytoskeleton. In people with X-linked thrombocytopenia, these signaling problems primarily affect platelets, impairing their development. In some cases, white blood cells are affected. When WASP function is impaired in white blood cells, they are less able to respond to foreign invaders and immune problems such as infections, eczema, and autoimmune disorders can occur.
Kidney disease is often called a "silent" disease, because most people have no symptoms in early kidney disease. In fact, you might feel just fine until your kidneys have almost stopped working. Do NOT wait for symptoms! Blood and urine tests are the only way to check for kidney damage or measure kidney function. (Watch the video to learn more about the symptoms of kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)
The best way to prevent neuropathy is to keep blood glucose levels as close to the normal range as possible. Maintaining safe blood glucose levels protects nerves throughout the body.
A difference in blood type between a pregnant woman and her baby causes Rh incompatibility. The condition occurs if a woman is Rh-negative and her baby is Rh-positive. When you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your baby is Rh-positive, your body will react to the baby's blood as a foreign substance. Your body will create antibodies (proteins) against the baby's Rh-positive blood. These antibodies can cross the placenta and attack the baby's red blood cells. This can lead to hemolytic anemia in the baby. Rh incompatibility usually doesn't cause problems during a first pregnancy. The baby often is born before many of the antibodies develop. However, once you've formed Rh antibodies, they remain in your body. Thus, the condition is more likely to cause problems in second or later pregnancies (if the baby is Rh-positive). With each pregnancy, your body continues to make Rh antibodies. As a result, each Rh-positive baby you conceive becomes more at risk for serious problems, such as severe hemolytic anemia.
The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to filter out about 1 to 2 quarts of urine, composed of waste products and extra water. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination.
Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver. Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia. Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.
Is there treatment for Townes-Brocks syndrome? Treatment is directed towards the specific symptoms, including immediate surgical intervention for imperforate anus; surgery for severe malformations of the hands; routine management of congenital heart defects; hemodialysis and possibly kidney transplantation for end-stage renal disease (ESRD); and early treatment of hearing loss. In addition, regular monitoring of renal function in individuals with and without renal anomalies is suggested.
Von Willebrand disease (VWD) is almost always inherited. "Inherited" means that the disorder is passed from parents to children though genes. You can inherit type 1 or type 2 VWD if only one of your parents passes the gene on to you. You usually inherit type 3 VWD only if both of your parents pass the gene on to you. Your symptoms may be different from your parents' symptoms. Some people have the genes for the disorder but don't have symptoms. However, they still can pass the genes on to their children. Some people get VWD later in life as a result of other medical conditions. This type of VWD is called acquired von Willebrand syndrome.
Your skin is your body's largest organ. It covers and protects your body. Your skin - Holds body fluids in, preventing dehydration - Keeps harmful microbes out, preventing infections - Helps you feel things like heat, cold, and pain - Keeps your body temperature even - Makes vitamin D when the sun shines on it Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Some balance disorders are caused by problems in the inner ear. The part of the inner ear that is responsible for balance is the vestibular system, often refered to as the labyrinth. When the labyrinth becomes infected or swollen -- a condition called labyrinthitis -- it is typically accompanied by vertigo and imbalance. Upper respiratory infections, other viral infections, and, less commonly, bacterial infections, can lead to labyrinthitis. Other balance disorders may involve another part of the body, such as the brain or the heart. For example, diseases of the circulatory system, such as stroke, can cause dizziness and other balance problems. Smoking and diabetes can increase the risk of stroke. Low blood pressure also can cause dizziness. Aging, infections, head injury, and many medicines may also result in a balance problem.
Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia. The first sign of Silver syndrome is usually weakness in the muscles of the hands. These muscles waste away (amyotrophy), resulting in abnormal positioning of the thumbs and difficulty using the fingers and hands for tasks such as handwriting. People with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs and symptoms of Silver syndrome typically begin in late childhood but can start anytime from early childhood to late adulthood. The muscle problems associated with Silver syndrome slowly worsen with age, but affected individuals can remain active throughout life.
Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly, pigmented fungi). It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-spread infection. Although the condition can affect all people, it is most commonly diagnosed in immunocompetent and immunosuppressed people and can even be life-threatening in these populations. Treatment depends on the signs and symptoms present in each person but may include surgery and/or various medications.
Somatic mutations in the BRAF gene have been identified in the Langerhans cells of about half of individuals with Langerhans cell histiocytosis. Somatic gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are not inherited. The BRAF gene provides instructions for making a protein that is normally switched on and off in response to signals that control cell growth and development. Somatic mutations cause the BRAF protein in affected cells to be continuously active and to transmit messages to the nucleus even in the absence of these chemical signals. The overactive protein may contribute to the development of Langerhans cell histiocytosis by allowing the Langerhans cells to grow and divide uncontrollably. Changes in other genes have also been identified in the Langerhans cells of some individuals with Langerhans cell histiocytosis. Some researchers believe that additional factors, such as viral infections and environmental toxins, may also influence the development of this complex disorder.
Dyslexia is a brain-based type of learning disability that specifically impairs a person's ability to read. These individuals typically read at levels significantly lower than expected despite having normal intelligence. Although the disorder varies from person to person, common characteristics among people with dyslexia are difficulty with phonological processing (the manipulation of sounds), spelling, and/or rapid visual-verbal responding. In individuals with adult onset of dyslexia, it usually occurs as a result of brain injury or in the context of dementia; this contrasts with individuals with dyslexia who simply were never identified as children or adolescents. Dyslexia can be inherited in some families, and recent studies have identified a number of genes that may predispose an individual to developing dyslexia.
What causes hereditary leiomyomatosis and renal cell cancer? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by changes (mutations) in the FH gene. This gene gives the body instructions for making an enzyme called fumarase which is needed for a series of reactions that lets cells use oxygen and energy (the citric acid cycle, or Krebs cycle). People with HLRCC are born with one mutated copy of the FH gene in each cell. The second copy of the gene in some cells can mutate later on from factors in the environment, such as radiation from the sun or an error during cell division. A mutation can interfere with fumarase's role in the citric acid cycle, which may affect the regulation of oxygen levels in cells. Long-term oxygen deficiency in cells with two mutated copies of the FH gene may contribute to tumors growth and the tendency to develop leiomyomas and/or renal cell cancer.
How is Wolfram syndrome diagnosed? A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis. Is genetic testing available for Wolfram syndrome? Yes. Clinical genetic testing is available for changes (mutations) in WFS1 and CISD2, the two genes known to cause Wolfram syndrome type 1 and Wolfram syndrome type 2, respectively. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It offers information on genetic testing for Wolfram syndrome type 1 and Wolfram syndrome type 2. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum). Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration). Signs and symptoms may include ataxia, speech and swallowing problems, dementia, vision problems, and vertigo.
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.

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