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Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis and treatment options depend on: - The type of brain stem glioma. - Where the tumor is found in the brain and if it has spread within the brain stem. - The age of the child when diagnosed. - Whether or not the child has a condition called neurofibromatosis type 1. - Whether the tumor has just been diagnosed or has recurred (come back).
Hepatitis A usually gets better in a few weeks without treatment. However, some people can have symptoms for up to 6 months. Your doctor may suggest medicines to help relieve your symptoms. Talk with your doctor before taking prescription and over-the-counter medicines. See your doctor regularly to make sure your body has fully recovered. If symptoms persist after 6 months, then you should see your doctor again. When you recover, your body will have learned to fight off a future hepatitis A infection. However, you can still get other kinds of hepatitis.
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia. NICCD is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation and in fighting infection. The episodes of neutropenia are apparent at birth or soon afterward. For most affected individuals, neutropenia recurs every 21 days and lasts about 3 to 5 days. Neutropenia makes it more difficult for the body to fight off pathogens such as bacteria and viruses, so people with cyclic neutropenia typically develop recurrent infections of the sinuses, respiratory tract, and skin. Additionally, people with this condition often develop open sores (ulcers) in the mouth and colon, inflammation of the throat (pharyngitis) and gums (gingivitis), recurrent fever, or abdominal pain. People with cyclic neutropenia have these health problems only during episodes of neutropenia. At times when their neutrophil levels are normal, they are not at an increased risk of infection and inflammation.
What causes silicosis? Silicosis is caused by breathing in tiny bits of silica dust. When people breathe silica dust, they inhale tiny particles of silica that has crystallized. This silica dust can cause fluid buildup and scar tissue in the lungs that cuts down the ability to breathe.
Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly). The features of Weyers acrofacial dysostosis overlap with those of another, more severe condition called Ellis-van Creveld syndrome. In addition to tooth and nail abnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes.
Investigators researching lupus seek to increase scientific understanding of the disorder and to find ways to treat, prevent, and ultimately, cure it. Several components of the National Institutes of Health support research on lupus.
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration.
Smallpox is a disease caused by the Variola major virus. Some experts say that over the centuries it has killed more people than all other infectious diseases combined. Worldwide immunization stopped the spread of smallpox three decades ago. The last case was reported in 1977. Two research labs still keep small amounts of the virus. Experts fear bioterrorists could use the virus to spread disease. Smallpox spreads very easily from person to person. Symptoms are flu-like. They include - High fever - Fatigue - Headache - Backache - A rash with flat red sores There is no treatment. Fluids and medicines for pain or fever can help control symptoms. Most people recover, but some can die. Those who do recover may have severe scars. The U.S. stopped routine smallpox vaccinations in 1972. Military and other high-risk groups continue to get the vaccine. The U.S. has increased its supply of the vaccine in recent years. The vaccine makes some people sick, so doctors save it for those at highest risk of disease. NIH: National Institute of Allergy and Infectious Diseases
Most cases of 22q13.3 deletion syndrome are not inherited. 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 chromosome deletion to their children. When 22q13.3 deletion syndrome is inherited, its inheritance pattern is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. About 15 to 20 percent of people with 22q13.3 deletion syndrome inherit a chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from one chromosome has traded places with a segment from another chromosome, but no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 22q13.3 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the long arm of chromosome 22, which results in the health problems characteristic of this disorder.
These resources address the diagnosis or management of Ohdo syndrome, SBBYS variant: - Gene Review: Gene Review: KAT6B-Related Disorders - Genetic Testing Registry: Young Simpson 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
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 most common cause of P.A.D. is atherosclerosis, a buildup of plaque in the arteries. Over time, plaque can harden and narrow the arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body.
What are the signs and symptoms of Thyrotoxic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotoxic periodic paralysis. 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) Goiter - Heterogeneous - Hyperthyroidism - Hypokalemia - Muscle weakness - Palpitations - Periodic paralysis - Rhabdomyolysis - 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.
Acinetobacter is often resistant to many commonly prescribed antibiotics. Decisions on treatment of infections with Acinetobacter should be made on a case-by-case basis by a healthcare provider. Acinetobacter infection typically occurs in ill patients and can either cause or contribute to death in these patients.
Lifestyle changes to treat heart failure may include - reducing salt and fluid intake - following a heart healthy diet - adopting a plan to lose weight - quitting smoking - engaging in physical activity. reducing salt and fluid intake following a heart healthy diet adopting a plan to lose weight quitting smoking engaging in physical activity.
Pyruvate kinase deficiency is caused by mutations in the PKLR gene. The PKLR gene is active in the liver and in red blood cells, where it provides instructions for making an enzyme called pyruvate kinase. The pyruvate kinase enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce adenosine triphosphate (ATP), the cell's main energy source. PKLR gene mutations result in reduced pyruvate kinase enzyme function, causing a shortage of ATP in red blood cells and increased levels of other molecules produced earlier in the glycolysis process. The abnormal red blood cells are gathered up by the spleen and destroyed, causing hemolytic anemia and an enlarged spleen. A shortage of red blood cells to carry oxygen throughout the body leads to fatigue, pallor, and shortness of breath. Iron and a molecule called bilirubin are released when red blood cells are destroyed, resulting in an excess of these substances circulating in the blood. Excess bilirubin in the blood causes jaundice and increases the risk of developing gallstones. Pyruvate kinase deficiency may also occur as an effect of other blood diseases, such as leukemia. These cases are called secondary pyruvate kinase deficiency and are not inherited.
These resources address the diagnosis or management of Feingold syndrome: - Gene Review: Gene Review: Feingold Syndrome 1 - Genetic Testing Registry: Feingold syndrome 1 - Genetic Testing Registry: Feingold syndrome 2 - MedlinePlus Encyclopedia: Duodenal Atresia - MedlinePlus Encyclopedia: Esophageal Atresia - MedlinePlus Encyclopedia: Microcephaly - MedlinePlus Encyclopedia: Webbing of the Fingers or Toes 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
Although Silver syndrome appears to be a rare condition, its exact prevalence is unknown.
Methylmalonic acidemia with homocystinuria is usually 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. When caused by mutations in the HCFC1 gene, the condition is inherited in an X-linked recessive pattern. The HCFC1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
In about 85 percent of cases of Beckwith-Wiedemann syndrome, only one person in a family has been diagnosed with the condition. However, parents of one child with Beckwith-Wiedemann syndrome may be at risk of having other children with the disorder. This risk depends on the genetic cause of the condition. Another 10 to 15 percent of people with Beckwith-Wiedemann syndrome are part of families with more than one affected family member. In most of these families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of an altered gene in each cell is typically sufficient to cause the disorder. In most of these cases, individuals with Beckwith-Wiedemann syndrome inherit the genetic change from their mothers. Occasionally, a person who inherits the altered gene will not have any of the characteristic signs and symptoms of the condition. Rarely, Beckwith-Wiedemann syndrome results from changes in the structure of chromosome 11. Some of these chromosomal abnormalities are inherited from a parent, while others occur as random events during the formation of reproductive cells (eggs and sperm) or in the earliest stages of development before birth.
National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov The Glaucoma Foundation 80 Maiden Lane, Suite 700 New York, NY 10038 212-285-0080 Glaucoma Research Foundation 251 Post Street, Suite 600 San Francisco, CA 94108 1-800-826-6693
Mutations in the ACADM gene cause MCAD deficiency. This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called medium-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the ACADM gene lead to a shortage (deficiency) of the MCAD enzyme within cells. Without sufficient amounts of this enzyme, medium-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to the characteristic signs and symptoms of this disorder such as lethargy and hypoglycemia. Medium-chain fatty acids or partially metabolized fatty acids may also build up in tissues and damage the liver and brain. This abnormal buildup causes the other signs and symptoms of MCAD deficiency.
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.
Blau syndrome results from mutations in the NOD2 gene. The protein produced from this gene helps defend the body from foreign invaders, such as viruses and bacteria, by playing several essential roles in the immune response, including inflammatory reactions. An inflammatory reaction 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. The NOD2 gene mutations that cause Blau syndrome result in a NOD2 protein that is overactive, which can trigger an abnormal inflammatory reaction. However, it is unclear how overactivation of the NOD2 protein causes the specific pattern of inflammation affecting the joints, eyes, and skin that is characteristic of Blau syndrome.
Summary : Many Americans use medical treatments that are not part of mainstream medicine. When you are using these types of care, it may be called complementary, integrative, or alternative medicine. Complementary medicine is used together with mainstream medical care. An example is using acupuncture to help with side effects of cancer treatment. When health care providers and facilities offer both types of care, it is called integrative medicine. Alternative medicine is used instead of mainstream medical care. The claims that non-mainstream practitioners make can sound promising. However, researchers do not know how safe many of these treatments are or how well they work. Studies are underway to determine the safety and usefulness of many of these practices. To minimize the health risks of a non-mainstream treatment - Discuss it with your doctor. It might have side effects or interact with other medicines. - Find out what the research says about it - Choose practitioners carefully - Tell all of your doctors and practitioners about all of the different types of treatments you use NIH: National Center for Complementary and Integrative Health
These resources address the diagnosis or management of IPEX syndrome: - Gene Review: Gene Review: IPEX Syndrome - Genetic Testing Registry: Insulin-dependent diabetes mellitus secretory diarrhea syndrome - Seattle Children's Hospital 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
Patients with essential thrombocythemia may have no signs or symptoms. Essential thrombocythemia often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by essential thrombocytopenia or by other conditions. Check with your doctor if you have any of the following: - Headache. - Burning or tingling in the hands or feet. - Redness and warmth of the hands or feet. - Vision or hearing problems. Platelets are sticky. When there are too many platelets, they may clump together and make it hard for the blood to flow. Clots may form in blood vessels and there may also be increased bleeding. These can cause serious health problems such as stroke or heart attack.
Scientists are working to understand the complex interactions between the brain and the part of the inner ear responsible for balance. They are also studying the effectiveness of certain exercises as a treatment option for balance disorders. An NIDCD-supported clinical trial in benign paroxysmal positioning vertigo (BPPV) showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs. NIDCD-funded researchers have created a virtual reality grocery store. This virtual store is a computer-simulated environment that seems to be a physical place in the real world. It is designed so people with balance disorders can safely walk on a treadmill as they practice looking for items on store shelves. The goal is to help reduce a person's dizziness in confusing environments. NIDCD-supported scientists are also studying the use of a vestibular implant to stop a Mnires attack by restoring normal electrical activity in the vestibular nerve. This nerve conveys balance information to the brain. The device uses the same technology found in a cochlear implant, a medical device that currently provides a sense of sound to people who are deaf or hard-of-hearing.
In most cases, abdominal adhesions do not cause symptoms. When symptoms are present, chronic abdominal pain is the most common.
KBG syndrome is a rare disorder that has been reported in around 60 individuals. For unknown reasons, males are affected more often than females. Doctors think the disorder is underdiagnosed because the signs and symptoms can be mild and may be attributed to other disorders.
What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. 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) Amniotic constriction ring - Autosomal dominant inheritance - 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.
How is mastocytic enterocolits diagnosed? Mastocytic enterocolitis is diagnosed after an endoscopic procedure in which the doctor takes samples of tissues (biopsies) from the lining of the intestines. The tissue is then sent to a pathologist who looks at it under the microscope. Mast cells may be hard to see on biopsies without a special stain for tryptase, an enzyme present in mast cells. Mastocytic enterocolitis is diagnosed when excess mast cells are present in the small bowel or the colon.
Summary : Iron is a mineral that our bodies need for many functions. For example, iron is part of hemoglobin, a protein which carries oxygen from our lungs throughout our bodies. It helps our muscles store and use oxygen. Iron is also part of many other proteins and enzymes. Your body needs the right amount of iron. If you have too little iron, you may develop iron deficiency anemia. Causes of low iron levels include blood loss, poor diet, or an inability to absorb enough iron from foods. People at higher risk of having too little iron are young children and women who are pregnant or have periods. Too much iron can damage your body. Taking too many iron supplements can cause iron poisoning. Some people have an inherited disease called hemochromatosis. It causes too much iron to build up in the body. Centers for Disease Control and Prevention
Freeman-Sheldon syndrome may be caused by mutations in the MYH3 gene. The MYH3 gene provides instructions for making a protein called embryonic skeletal muscle myosin heavy chain 3. This protein belongs to a group of proteins called myosins, which are involved in cell movement and transport of materials within and between cells. Myosin and another protein called actin are the primary components of muscle fibers and are important for the tensing of muscles (muscle contraction). Embryonic skeletal muscle myosin heavy chain 3 forms part of a myosin protein complex that is active before birth and is important for normal development of the muscles. MYH3 gene mutations that cause Freeman-Sheldon syndrome likely disrupt the function of the embryonic skeletal muscle myosin heavy chain 3 protein, reducing the ability of fetal muscle cells to contract. This impairment of muscle contraction may interfere with muscle development in the fetus, resulting in the contractures and other muscle and skeletal abnormalities associated with Freeman-Sheldon syndrome. It is unclear how MYH3 gene mutations may cause other features of this disorder. Some people with Freeman-Sheldon syndrome do not have mutations in the MYH3 gene. In these individuals, the cause of the disorder is unknown.
What causes idiopathic juxtafoveal retinal telangiectasia? The exact, underlying cause of idiopathic juxtafoveal retinal telangiectasia (IJT) is not known. IJT has been reported in some siblings (including twins) and other family members of affected people. This suggests there may be a genetic component to IJT; however, no specific gene has been proven to cause the condition. Researchers have considered that changes in the ATM gene may interact with other genes or environmental factors to predispose a person to developing IJT. Some researchers have speculated that diabetes, or pre-diabetes, may be associated with some cases of IJT. However, to our knowledge, this association has not been proven. Others have suggested there may be a developmental cause, such as abnormal formation of vessels in the eye, which could cause abnormalities of the vessels in adulthood. Certain types of IJT may occur in association with other conditions, including polycythemia (abnormal increase in blood volume), hypoglycemia, ulcerative colitis, multiple myeloma and chronic lymphatic leukemia.
Lujan syndrome is caused by at least one mutation in the MED12 gene. This gene provides instructions for making a protein that helps regulate gene activity; it is involved in many aspects of early development. The MED12 gene mutation that causes Lujan syndrome changes a single protein building block (amino acid) in the MED12 protein. This genetic change alters the structure, and presumably the function, of the MED12 protein. However, it is unclear how the mutation affects development and leads to the cognitive and physical features of Lujan syndrome.
Sepiapterin reductase deficiency appears to be a rare condition. At least 30 cases have been described in the scientific literature.
Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in association with other birth defects and cognitive abnormalities as part of a genetic syndrome. In some cases, the extra digits may be well-formed and functional. Surgery may be considered especially for poorly formed digits or very large extra digits. Surgical management depends greatly on the complexity of the deformity. [1] [2]
The National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) conduct research related to POTS and support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as POTS. NINDS-funded researchers are investigating if low levels of the hormone aldosterone contribute to low blood volume in individuals with POTS, and if high levels of angiotensin II, a peptide that helps regulate blood volume, leads to decreased adrenal sensitivity. Other NINDS-funded research is investigating the hypothesis that POTS is a syndrome of different subtypes, with different underlying mechanisms. Additionally, the NINDS funds the Autonomic Rare Diseases Consortium to further understand disorders such as orthostatic hypotension and hopefully alter the course of disease.
Initial treatment generally involves immobilizing the wrist in a splint, nonsteroidal anti-inflammatory drugs to temporarily reduce swelling, and injections of corticosteroid drugs (such as prednisone). For more severe cases, surgery may be recommended.
Familial porencephaly is a rare condition, although the exact prevalence is unknown. At least eight affected families have been described in the scientific literature.
Adenoameloblastoma is a lesion that is often found in the upper jaw. Some consider it a non-cancerous tumor, others a hamartoma (tumor-like growth) or cyst. Often, an early sign of the lesion is painless swelling. These tumors are rarely found outside of the jaw.
People with Whipple disease may have complications caused by malnutrition, which is due to damaged villi in the small intestine. As a result of delayed diagnosis or treatment, people may experience the following complications in other areas of the body: - long-lasting nutritional deficiencies - heart and heart valve damage - brain damage A person with Whipple disease may experience a relapsea return of symptoms. Relapse can happen years after treatment and requires repeat treatments.
Oral cancer can form in any part of the mouth or throat. Most oral cancers begin in the tongue and in the floor of the mouth. Anyone can get oral cancer, but the risk is higher if you are male, over age 40, use tobacco or alcohol or have a history of head or neck cancer. Frequent sun exposure is also a risk for lip cancer. Symptoms of oral cancer include - White or red patches in your mouth - A mouth sore that won't heal - Bleeding in your mouth - Loose teeth - Problems or pain with swallowing - A lump in your neck - An earache Oral cancer treatments may include surgery, radiation therapy or chemotherapy. Some patients have a combination of treatments. NIH: National Cancer Institute
How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider.
POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature.
Respiratory syncytial virus (RSV) causes mild, cold-like symptoms in adults and older healthy children. It can cause serious problems in young babies, including pneumonia and severe breathing problems. Premature babies and those with other health problems have the highest risk. A child with RSV may have a fever, stuffy nose, cough, and trouble breathing. Lab tests can tell if your child has the virus. There is no specific treatment. You should give your child fluids to prevent dehydration. If needed, you can also give a pain reliever (not aspirin) for fever and headache. RSV easily spreads from person to person. You can get it from direct contact with someone who has it or by touching infected objects such as toys or surfaces such as countertops. Washing your hands often and not sharing eating and drinking utensils are simple ways to help prevent the spread of RSV infection. There is currently no vaccine for RSV. Centers for Disease Control and Prevention
Preterm labor is labor that starts before 37 completed weeks of pregnancy. It can lead to premature birth. Premature babies may face serious health risks. Symptoms of preterm labor include - Contractions every 10 minutes or more often - Leaking fluid or bleeding from the vagina - Feeling of pressure in the pelvis - Low, dull backache - Cramps that feel like menstrual cramps - Abdominal cramps with or without diarrhea If you think you might be having preterm labor, contact your health care provider. NIH: National Institute of Child Health and Human Development
Whipple's disease is a multi-system infectious bacterial disease that interferes with the body's ability to metabolize fats. Caused by the bacterium Tropheryma whipplei, the disorder can affect any system in the body, including the brain, eyes, heart, joints, and lungs, but usually occurs in the gastrointestinal system. Neurological symptoms occur in up to 40 percent of individuals and may include dementia, abnormalities of eye and facial muscle movements, headaches, seizures, loss of muscle control, memory loss, weakness, and vision problems. Gastrointestinal symptoms may include diarrhea, weight loss, fatigue, weakness, and abdominal bleeding and pain. Fever, cough, anemia, heart and lung damage, darkening of the skin, and joint soreness may also be present. The disease is more common in men and neurological symptoms are more common in individuals who have severe abdominal disease, Rarely, neurological symptoms may appear without gastrointestinal symptoms and can mimic symptoms of almost any neurologic disease..
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body.
The prevalence of SCOT deficiency is unknown. More than 20 cases of this condition have been reported in the scientific literature.
C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.
Dermatomyositis is one of a group of acquired muscle diseases called inflammatory myopathies (disorder of muscle tissue or muscles), which are characterized by chronic muscle inflammation accompanied by muscle weakness. The cardinal symptom is a skin rash that precedes or accompanies progressive muscle weakness. Dermatomyositis may occur at any age, but is most common in adults in their late 40s to early 60s, or children between 5 and 15 years of age. There is no cure for dermatomyositis, but the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The cause of dermatomyositis is unknown.
Summary : DASH stands for Dietary Approaches to Stop Hypertension. It is an eating plan that is based on research studies sponsored by the National Heart, Lung, and Blood Institute (NHLBI). These studies showed that DASH lowers high blood pressure and improves levels of cholesterol. This reduces your risk of getting heart disease. The DASH Diet - Emphasizes vegetables, fruits, and fat-free or low-fat dairy products. - Includes whole grains, fish, poultry, beans, seeds, nuts, and vegetable oils. - Limits sodium, sweets, sugary beverages, and red meats. Along with DASH, other lifestyle changes can help lower your blood pressure. They include staying at a healthy weight, exercising, and not smoking. NIH: National Heart, Lung, and Blood Institute
How might the syndrome of inappropriate antidiuretic hormone be treated? Treatment of syndrome of inappropriate antidiuretic hormone (SIADH) may involve fluid restriction, treatment of the underlying cause once determined, and medication that decreases the effect of antidiuretic hormone on the kidneys.
The signs and symptoms of glomerular disease include - albuminuria: large amounts of protein in the urine - hematuria: blood in the urine - reduced glomerular filtration rate: inefficient filtering of wastes from the blood - hypoproteinemia: low blood protein - edema: swelling in parts of the body One or more of these symptoms can be the first sign of kidney disease. But how would you know, for example, whether you have proteinuria? Before seeing a doctor, you may not. But some of these symptoms have signs, or visible manifestations: - Proteinuria may cause foamy urine. - Blood may cause the urine to be pink or cola-colored. - Edema may be obvious in hands and ankles, especially at the end of the day, or around the eyes when awakening in the morning, for example.
Is genetic testing available for Stargardt disease? Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Stargardt disease. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about genetic testing for this condition should speak with their ophthalmologist or a genetics professional.
When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation usually has to occur in both copies of the gene to cause the disorder. However, some females who carry a single mutated copy of the AVPR2 gene have features of nephrogenic diabetes insipidus, including polyuria and polydipsia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When nephrogenic diabetes insipidus is caused by mutations in the AQP2 gene, it can have either an autosomal recessive or, less commonly, an autosomal dominant pattern of inheritance. In autosomal recessive inheritance, 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 autosomal dominant inheritance, one mutated copy of the AQP2 gene in each cell is sufficient to cause the disorder.
Two of the most common possible problems are blood clots and infection. Other complications, such as new or ongoing pain, stiffness, fracture, bleeding, or injury to the blood vessels can occur. Serious medical complications, such as heart attack or stroke, are very rare.
Uncomplicated cases of diarrhea due to Y. enterocolitica usually resolve on their own without antibiotic treatment. However, in more severe or complicated infections, antibiotics such as aminoglycosides, doxycycline, trimethoprim-sulfamethoxazole, or fluoroquinolones may be useful.
Most cases of Laron syndrome are inherited in an autosomal recessive pattern, which means both copies of the GHR 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. Much less commonly, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person has one parent with the condition.
Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected individuals have an extreme sensitivity to sunlight (photosensitivity), and even a small amount of sun exposure can cause a sunburn. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the brain that can be seen on brain scans. Cockayne syndrome can be divided into subtypes, which are distinguished by the severity and age of onset of symptoms. Classical, or type I, Cockayne syndrome is characterized by an onset of symptoms in early childhood (usually after age 1 year). Type II Cockayne syndrome has much more severe symptoms that are apparent at birth (congenital). Type II Cockayne syndrome is sometimes called cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome type II. Type III Cockayne syndrome has the mildest symptoms of the three types and appears later in childhood.
Smith-Magenis syndrome is typically not inherited. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most often, people with Smith-Magenis syndrome have no history of the condition in their family.
Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, however, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In acute myeloid leukemia (AML), there are too many of a specific type of white blood cell called a myeloblast. AML is the most common type of acute leukemia in adults. This type of cancer usually gets worse quickly if it is not treated. Possible risk factors include smoking, previous chemotherapy treatment, and exposure to radiation. Symptoms of AML include: - Fever - Shortness of breath - Easy bruising or bleeding - Bleeding under the skin - Weakness or feeling tired - Weight loss or loss of appetite Tests that examine the blood and bone marrow diagnose AML. Treatments include chemotherapy, other drugs, radiation therapy, stem cell transplants, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Once the leukemia is in remission, you need additional treatment to make sure that it does not come back. NIH: National Cancer Institute
Is genetic testing available to detect MTHFR gene mutations? Yes. Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood. Genetic testing for C677T and A1286C may be indicated in a person with elevated homocysteine levels and one or more of the following, coronary artery disease venous thromboembolism stroke heart attack peripheral artery disease aneurysm high blood pressure recurrent pregnancy loss However, the American Heart Association recommends against testing for the common MTHFR gene mutations (C677T and A1298C) as a screen for increased risk of cardiovascular conditions. The College of American Pathologists and the American College of Medical Genetics recommend against testing for C677T and A1298C in people with blood clots. This is because the relationship between C677T and A1298C mutations and risk for cardiovascular disease is not completely understood. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. 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.
What causes anencephaly? The underlying cause of anencephaly is not fully understood. Like other forms of neural tube defects (NTDs), anencephaly is likely caused by the interaction of multiple genes and environmental factors, many of which remain unknown. Variations in many genes may influence the risk of developing anencephaly. The best-studied gene thus far is the MTHFR gene, which gives the body instructions to make a protein used to process the vitamin folate (also called vitamin B9). A deficiency of folate is a known risk factor for NTDs. Other genes involved in folate processing, and the development of the neural tube, may also affect the risk. Researchers have also looked at environmental factors that could contribute to the risk of anencephaly. Folate appears to play a significant role, and studies have shown that taking folic acid (a form of folate), before getting pregnant and very early in pregnancy, significantly reduces the risk to have a baby with a NTD. Other possible maternal risk factors for anencephaly include diabetes mellitus; obesity; exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy; and the use of certain anti-seizure medications during pregnancy.
How might Coats disease be treated? The treatment of Coats disease depends on the signs and symptoms present in each person. Treatment is usually directed towards destroying affected blood vessels in the retina and salvaging as much vision as possible. A procedure that uses extreme cold to destroy abnormal blood vessels (cryotherapy), and/or a procedure that uses laser energy to heat and destroy abnormal tissue (photocoagulation) are often used singly or in combination. These procedures are typically used during the early stages of the disease along with steroids and other medications to control inflammation and leaking from blood vessels. More advanced cases may require surgical treatment. For example, surgery to reattach the retina may be necessary in cases of retinal detachment. Draining or surgically removing the fluids that fill the eyeball between the lens and the retina (vitrectomy) may also be used to treat Coats disease when retinal detachment is present.
47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. 47 XXX syndrome is usually caused by a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Treatment typically focuses on specific symptoms, if present. Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.
Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. Lymphedema is usually present at birth or develops in infancy. It typically occurs on both sides of the body and can worsen over time. Other symptoms may include accumulation of fluid in the scrotum in males (hydrocele), upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and/or cellulitis. Milroy disease is sometimes caused by changes (mutations) in the FLT4 gene and is inherited in an autosomal dominant manner. In many cases, the cause remains unknown. Treatment may include lymphedema therapy to improve function and alleviate symptoms.
Some people with cysticercosis do not need to be treated. There are medications available to treat cysticercosis for those who do need treatment. Sometimes surgery may be needed. Your doctor will advise you on which treatment is best for you. More on: Resources for Health Professionals: Treatment More on: Taeniasis
Learning disabilities can be lifelong conditions. In some people, several overlapping learning disabilities may be apparent. Other people may have a single, isolated learning problem that has little impact on their lives.
LCMV infections can occur after exposure to fresh urine, droppings, saliva, or nesting materials from infected rodents. Transmission may also occur when these materials are directly introduced into broken skin, the nose, the eyes, or the mouth, or presumably, via the bite of an infected rodent. Person-to-person transmission has not been reported, with the exception of vertical transmission from infected mother to fetus, and rarely, through organ transplantation.
Summary : Surgeons can reshape the appearance of body parts through cosmetic surgery. Some of the most common body parts people want to improve through surgery include - Breasts: Increase or reduce the size of breasts or reshape sagging breasts - Ears: Reduce the size of large ears or set protruding ears back closer to the head - Eyes: Correct drooping upper eyelids or remove puffy bags below the eyes - Face: Remove facial wrinkles, creases or acne scars - Hair: Fill in balding areas with one's own hair - Nose: Change the shape of the nose - Tummy: Flatten the abdomen
X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. X-linked creatine deficiency is caused by changes (mutations) in the SLC6A8 gene and is inherited in an X-linked manner. Treatment with high doses of creatine monohydrate, L-arginine, and L-glycine has been used to treat some of the symptoms associated with X-linked creatine deficiency with variable success.
The small intestine is part of the upper gastrointestinal (GI) tract and is a tube-shaped organ between the stomach and large intestine. The upper GI tract also includes the mouth, esophagus, stomach, and duodenum, or the first part of the small intestine. Most food digestion and nutrient absorption take place in the small intestine. The small intestine measures about 20 feet long and includes the duodenum, jejunum, and ileum. Villitiny, fingerlike protrusionsline the inside of the small intestine. Villi normally let nutrients from food be absorbed through the walls of the small intestine into the bloodstream.
Both the autosomal recessive and autosomal dominant forms of Robinow syndrome are rare. Fewer than 200 people with autosomal recessive Robinow syndrome have been described in the medical literature. This form of the condition has been identified in families from several countries, including Turkey, Oman, Pakistan, and Brazil. Autosomal dominant Robinow syndrome has been diagnosed in fewer than 50 families; about 10 of these families have had the osteosclerotic form.
Congenital insensitivity to pain is a rare condition; about 20 cases have been reported in the scientific literature.
Mutations in the LPL gene cause familial lipoprotein lipase deficiency. The LPL gene provides instructions for producing an enzyme called lipoprotein lipase, which is found primarily on the surface of cells that line tiny blood vessels (capillaries) within muscles and fatty (adipose) tissue. This enzyme helps break down fats called triglycerides, which are carried by molecules called lipoproteins. Mutations that cause familial lipoprotein lipase deficiency lead to a reduction or elimination of lipoprotein lipase activity, which prevents the enzyme from effectively breaking down triglycerides. As a result, triglycerides attached to lipoproteins build up in the blood and tissues, leading to the signs and symptoms of familial lipoprotein lipase deficiency.
The prevalence of NARP is unknown. This disorder is probably less common than a similar but more severe condition, Leigh syndrome, which affects about 1 in 40,000 people.
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.
How is Tay-Sachs disease inherited? This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
This condition is inherited in an autosomal recessive pattern, which means both copies of the TYMP gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What causes hypothalamic dysfunction? Hypothalamic dysfunction may be caused by any of the following : Birth defects of the brain or hypothalamus (e.g. holoprosencephaly, septo-optic dysplasia) Genetic disorders (e.g. Prader-Willi syndrome, growth hormone deficiency) Eating disorders (e.g. anorexia, bulimia) Tumors (e.g. craniopharyngiomas, germinomas, meningiomas, gliomas, ependymomas, and gliomas of the optic nerve) Head trauma (e.g. boxing and varied injuries, birth trauma) Bacterial, viral, or fungal infections Autoimmune disorders (e.g. sarcoidosis) Malnutrition Cranial radiation Surgery Too much iron In some cases of hypothalamic dysfunction, the cause is unknown; these cases are referred to as having idiopathic hypothalamic dysfunction.
What causes chondrocalcinosis 2? Chondrocalcinosis 2 is caused by changes (mutations) in the ANKH gene. This gene encodes a protein that helps transport pyrophosphate (a substance that regulates bone formation). Mutations in ANKH can cause high levels of pyrophosphate and calcium pyrophosphate dihydrate crystals to accumulate in the cartilage of joints. The buildup of these crystals weakens cartilage and causes it to break down more easily. This leads to the many signs and symptoms associated with chondrocalcinosis 2.
The AB variant is extremely rare; only a few cases have been reported worldwide.
Ornithine translocase deficiency is a very rare disorder. Fewer than 100 affected individuals have been reported worldwide.
These resources address the diagnosis or management of caudal regression syndrome: - MedlinePlus Encyclopedia: Bladder Exstrophy Repair - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Inguinal Hernia Repair - MedlinePlus Encyclopedia: Neurogenic Bladder 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 BFNS: - Boston Children's Hospital: My Child Has...Seizures and Epilepsy - Epilepsy Action: Benign Neonatal Convulsions - Gene Review: Gene Review: KCNQ2-Related Disorders - Gene Review: Gene Review: KCNQ3-Related Disorders - Genetic Testing Registry: Benign familial neonatal seizures - Genetic Testing Registry: Benign familial neonatal seizures 1 - Genetic Testing Registry: Benign familial neonatal seizures 2 - MedlinePlus Encyclopedia: EEG 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
Itching is skin tingling or irritation that makes you want to scratch the itchy area. It's a symptom of many health conditions. Common causes are - Allergic reactions - Eczema - Dry skin - Insect bites and stings - Irritating chemicals - Parasites such as pinworms, scabies, head and body lice - Pregnancy - Rashes - Reactions to medicines To soothe itchy skin, you can try cold compresses, lotions and lukewarm baths. Avoid scratching, wearing irritating fabrics and high heat and humidity. Most itching is not serious. However, if you itch all over, have hives that keep coming back or have itching without an apparent cause, you might require medical attention.
Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your back, abdomen or chest or you may feel pain all over, such as when your muscles ache from the flu. Pain can be helpful in diagnosing a problem. Without pain, you might seriously hurt yourself without knowing it, or you might not realize you have a medical problem that needs treatment. Once you take care of the problem, pain usually goes away. However, sometimes pain goes on for weeks, months or even years. This is called chronic pain. Sometimes chronic pain is due to an ongoing cause, such as cancer or arthritis. Sometimes the cause is unknown. Fortunately, there are many ways to treat pain. Treatment varies depending on the cause of pain. Pain relievers, acupuncture and sometimes surgery are helpful.
How might narcolepsy be treated? There is currently no cure for narcolepsy, but some of the symptoms can be managed with medications and lifestyle changes. Most affected people improve if they maintain a regular sleep schedule, usually 7.5 to 8 hours of sleep per night. Scheduled naps during the day also may help. Other measures that may help include participating in an exercise program; receiving emotional support and career or vocational counseling; and avoiding high-risk behaviors such as alcohol and drug use, which may make symptoms worse. Common-sense measures should be taken to enhance sleep quality (such as avoiding heavy meals before bed time). Treatment with medications involves the use of central nervous system (CNS) stimulants. These medications help reduce daytime sleepiness and improve this symptom in 65-85% of affected people. Two types of antidepressant drugs (tricyclics, and selective serotonin and noradrenergic reuptake inhibitors) are effective in controlling cataplexy in many people. Sodium oxybate (a strong sedative taken during the night) may also be used to treat narcolepsy. You can view detailed information about the treatment of narcolepsy on Medscape's Web site.
Kidney failure means your kidneys no longer filter your blood well enough to keep you healthy. Failing kidneys do a poor job of removing wastes and extra fluid from your blood. Wastes and extra fluid begin to build up. The buildup of wastes can make you sick. You may have the following symptoms: - ankle, face, or belly swelling - stomach sickness - throwing up - loss of appetite - loss of sense of taste - feeling tired - weakness - confusion - headaches
Dialysis is a treatment to filter wastes and water from your blood. There are two major forms of dialysis: hemodialysis and peritoneal dialysis. (Watch the video to learn more about dialysis. 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.) In hemodialysis, blood is run through a filter outside of your body and the clean blood is returned to the body. Hemodialysis is usually done at a dialysis center three times a week, but it can also be done at home. Each session usually lasts between three and four hours. Peritoneal dialysis is another way to remove wastes from your blood. This kind of dialysis uses the lining of your abdominal cavity (the space in your body that holds organs like the stomach, intestines, and liver) to filter your blood. It works by putting a special fluid into your abdomen that absorbs waste products in your blood as it passes through small blood vessels in this lining. This fluid is then drained away. A key benefit of peritoneal dialysis is that it can be done at home, while you sleep. Get more information about dialysis.
GRACILE syndrome is caused by a mutation in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process through which cells derive much of their energy. The BCS1L protein is critical for the formation of a group of proteins known as complex III, which is one of several protein complexes involved in oxidative phosphorylation. The genetic change involved in GRACILE syndrome alters the BCS1L protein, and the abnormal protein is broken down more quickly than the normal protein. What little protein remains is able to help form some complete complex III, although the amount is severely reduced, particularly in the liver and kidneys. As a result, complex III activity and oxidative phosphorylation are decreased in these organs in people with GRACILE syndrome. Without energy, these organs become damaged, leading to many of the features of GRACILE syndrome. It is not clear why a change in the BCS1L gene leads to iron accumulation in people with this condition.
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.
Christianson syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). The NHE6 protein is found in the membrane surrounding endosomes, which are compartments within cells that recycle proteins and other materials. The NHE6 protein acts as a channel to exchange positively charged atoms (ions) of sodium (Na+) with hydrogen ions (H+). By controlling the amount of hydrogen ions, the NHE6 protein helps regulate the relative acidity (pH) inside endosomes, which is important for the recycling function of these compartments. The NHE6 protein may have additional functions, such as helping to move proteins to the correct location in the cell (protein trafficking). Mutations in the SLC9A6 gene typically lead to an abnormally short NHE6 protein that is nonfunctional or that is broken down quickly in cells, resulting in the absence of functional NHE6 channels. As a result, the pH in endosomes is not properly maintained. It is unclear how unregulated endosomal pH leads to neurological problems in people with Christianson syndrome. Some studies have shown that protein trafficking by endosomes is important for learning and memory, but the role of endosomal pH or the NHE6 protein in this process has not been identified.
It is estimated that 750,000 people in the United States have dilated cardiomyopathy; roughly half of these cases are familial.
Summary : There are many new responsibilities when you have a baby. One of them is to make sure they get the checkups that they need. Well-baby exams are important in making sure that your baby is growing and developing properly. If there are problems, you can catch them early. This means that there is a better chance for treatment. During these checkups, your baby will get any needed immunizations and screenings. This is also a good chance to ask your health care provider any questions about how to care for your baby.
Mutations in the CLN8 gene cause Northern epilepsy. The CLN8 gene provides instructions for making a protein whose function is not well understood. The CLN8 protein is thought to play a role in transporting materials in and out of a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Based on the structure of the CLN8 protein, it may also help regulate the levels of fats (lipids) in cells. A single CLN8 gene mutation has been identified to cause Northern epilepsy. Nearly all affected individuals have this mutation in both copies of the CLN8 gene in each cell. The effects of this mutation on protein function are unclear. Unlike other forms of NCL that result in the accumulation of large amounts of fatty substances called lipopigments in cells, contributing to cell death, Northern epilepsy is associated with very little lipopigment buildup. People with Northern epilepsy do have mild brain abnormalities resulting from cell death, but the cause of this brain cell death is unknown. It is also unclear how changes in the CLN8 protein and a loss of brain cells cause the neurological problems associated with Northern epilepsy.

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