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Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin A plays a role in your - Vision - Bone growth - Reproduction - Cell functions - Immune system Vitamin A is an antioxidant. It can come from plant or animal sources. Plant sources include colorful fruits and vegetables. Animal sources include liver and whole milk. Vitamin A is also added to foods like cereals. Vegetarians, young children, and alcoholics may need extra Vitamin A. You might also need more if you have certain conditions, such as liver diseases, cystic fibrosis, and Crohn's disease. Check with your health care provider to see if you need to take vitamin A supplements. NIH: National Institutes of Health Office of Dietary Supplements
With watchful waiting, a man's condition is closely monitored, but treatment does not begin until symptoms appear or change. The doctor may suggest watchful waiting for some men who have prostate cancer that is found at an early stage and appears to be growing slowly. Also, watchful waiting may be advised for older men or men with other serious medical problems. For these men, the risks and possible side effects of surgery, radiation therapy, or hormonal therapy may outweigh the possible benefits. Doctors monitor these patients with regular check-ups. If symptoms appear or get worse, the doctor may recommend active treatment.
Treatment options depend on the type of AVM, its location, noticeable symptoms, and the general health condition of the individual. Medication can often alleviate general symptoms such as headache, back pain, and seizures caused by AVMs and other vascular lesions. The definitive treatment for AVMs is either surgery to either remove the AVM or to create an artificial blood clot to close the lesion or focused irradiation treatment that is designed to damage the blood vessel walls and close the lesion. The decision to treat an AVM requires a careful consideration of possible benefits versus risks.
Symptoms of tardive dyskinesia may remain long after discontinuation of neuroleptic drugs. In many cases, the symptoms stop spontaneously, but in some cases they may persist indefinitely.
Researchers do not fully understand what causes cysts to grow in the kidneys of people with CKD. The fact that these cysts occur only in the kidneys and not in other parts of the body, as in PKD, indicates that the processes that lead to cyst formation take place primarily inside the kidneys.2
Emergency treatment for a baby who has been shaken usually includes life-sustaining measures such as respiratory support and surgery to stop internal bleeding and bleeding in the brain. Doctors may use brain scans, such as MRI and CT, to make a more definite diagnosis.
Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death. Maple syrup urine disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other health problems if not treated.
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the disorder varies among affected individuals. Miller syndrome is caused by mutations in the DHODH gene. It is inherited in an autosomal recessive manner.
Syphilis is a sexually transmitted disease caused by bacteria. It infects the genital area, lips, mouth, or anus of both men and women. You usually get syphilis from sexual contact with someone who has it. It can also pass from mother to baby during pregnancy. The early stage of syphilis usually causes a single, small, painless sore. Sometimes it causes swelling in nearby lymph nodes. If you do not treat it, syphilis usually causes a non-itchy skin rash, often on your hands and feet. Many people do not notice symptoms for years. Symptoms can go away and come back. The sores caused by syphilis make it easier to get or give someone HIV during sex. If you are pregnant, syphilis can cause birth defects, or you could lose your baby. In rare cases, syphilis causes serious health problems and even death. Syphilis is easy to cure with antibiotics if you catch it early. Correct usage of latex condoms greatly reduces, but does not completely eliminate, the risk of catching or spreading syphilis. NIH: National Institute of Allergy and Infectious Diseases
Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the PTCH1 gene.
How is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) inherited? MELAS is caused by mutations in mitochondrial DNA (mtDNA) and is therefore transmitted by maternal inheritance (also called mitochondrial inheritance). This type of inheritance applies to all conditions caused by genes in mtDNA. Mitochondria are structures in each cell that turn molecules into energy, and each contain a small amount of DNA. Only egg cells (not sperm cells) contribute mitochondria to offspring, so only females can pass on mitochondrial mutations to their children. Conditions resulting from mutations in mtDNA can appear in every generation of a family and can affect both males and females. In most cases, people with MELAS inherit an altered mitochondrial gene from their mother. Less commonly, the condition results from a new mutation in a mitochondrial gene and occurs in an individual with no history of MELAS in the family.
There is no cure for polymyositis, 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 standard treatment for polymyositis is a corticosteroid drug, given either in pill form or intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with polymyositis include cyclosporine A, cyclophosphamide, and tacrolimus. Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of motion.
Reactive arthritis is a type of infectious arthritis that occurs as a reaction to an infection elsewhere in the body. This process may occur weeks or even months after the infection has resolved. In addition to joint inflammation, reactive arthritis is associated with two other symptoms: redness and inflammation of the eyes (conjunctivitis) and inflammation of the urinary tract (urethritis). These symptoms may occur alone, together, or not at all. The symptoms of reactive arthritis usually last 3 to 12 months, although symptoms can return or develop into a long-term disease in a small percentage of people. The exact cause of reactive arthritis is unknown. It may follow an infection with Salmonella enteritidis, Salmonella typhimurium, Yersinia enterocolitica, Campylobacter jejuni, Clostridium difficile, Shigella sonnei, Entamoeba histolytica, Cryptosporidium, or Chlamydia trachomatis. Certain genes may make you more prone to the syndrome. For instance, the condition is observed more commonly in patients with human lymphocyte antigen B27 (HLA-B27) histocompatibility antigens. The goal of treatment is to relieve symptoms and treat any underlying infection. Antibiotics may be prescribed. Nonsteroidal anti-inflammatory drugs (NSAIDS), pain relievers, and corticosteroids may be recommended for those with joint pain.
Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a deposit or accumulation of lipid-containing matter forms within the arteries. Symptoms, which generally appear within minutes or a few hours of the infarction, may include intermittent sharp or burning back pain, aching pain down through the legs, weakness in the legs, paralysis, loss of deep tendon reflexes, loss of pain and temperature sensation, and incontinence.
The prevalence of Czech dysplasia is unknown; at least 11 families have been affected. Most of these families reside in the Czech Republic.
There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are available. Other treatment is symptomatic and supportive.
If you have HIV/AIDS and find out you are pregnant or think you may be pregnant, you should let your health care provider know as soon as possible. Some HIV/AIDS medicines may harm your baby. Your health care provider may want you to take different medicines or change the doses. It is also possible to give HIV to your baby. This is most likely to happen around the time you give birth. For this reason, treatment during this time is very important for protecting your baby from infection. Several treatments may prevent the virus from spreading from you to your baby. Your health care provider can recommend the best one for you. Your baby will also need to have treatment for at least the first six weeks of life. Regular testing will be needed to find out if your baby is infected.
What are the signs and symptoms of Glaucoma sleep apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma sleep apnea. 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) Glaucoma 90% Respiratory insufficiency 90% Sleep apnea - 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.
Haemophilus is the name of a group of bacteria. There are several types of Haemophilus. They can cause different types of illnesses involving breathing, bones and joints, and the nervous system. One common type, Hib (Haemophilus influenzae type b), causes serious disease. It usually strikes children under 5 years old. Your child can get Hib disease by being around other children or adults who may have the bacteria and not know it. The germs spread from person to person. If the germs stay in the child's nose and throat, the child probably will not get sick. But sometimes the germs spread into the lungs or the bloodstream, and then Hib can cause serious problems such as meningitis and pneumonia. There is a vaccine to prevent Hib disease. All children younger than 5 years of age should be vaccinated with the Hib vaccine. Centers for Disease Control and Prevention
These resources address the diagnosis or management of acromicric dysplasia: - Genetic Testing Registry: Acromicric dysplasia 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
Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.
HNSCC is generally not inherited; it typically arises from mutations in the body's cells that occur during an individual's lifetime. This type of alteration is called a somatic mutation. Rarely, HNSCC is found in several members of a family. These families have inherited disorders that increase the risk of multiple types of cancer.
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. However, persistent Mllerian duct syndrome affects only males. Females with two mutated copies of the gene do not show signs and symptoms of the condition.
Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT). Affected individuals also have an increased risk of developing a pulmonary embolism (PE), which is a clot that travels through the bloodstream and lodges in the lungs. In hereditary antithrombin deficiency, abnormal blood clots usually form only in veins, although they may rarely occur in arteries. About half of people with hereditary antithrombin deficiency will develop at least one abnormal blood clot during their lifetime. These clots usually develop after adolescence. Other factors can increase the risk of abnormal blood clots in people with hereditary antithrombin deficiency. These factors include increasing age, surgery, or immobility. The combination of hereditary antithrombin deficiency and other inherited disorders of blood clotting can also influence risk. Women with hereditary antithrombin deficiency are at increased risk of developing an abnormal blood clot during pregnancy or soon after delivery. They also may have an increased risk for pregnancy loss (miscarriage) or stillbirth.
These headaches are generally non-responsive to usual treatment for other short-lasting headaches. Corticosteroids and the anti-epileptic drugs gabapentin, lamotrigine, and carbamazepine may help relieve some symptoms in some patients. Studies have shown that injections of glycerol to block nerve signaling along the trigeminal nerve may provide temporary relief in some severe cases, but the headaches recurred in about 40 percent of individuals studied.
Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Hyperkeratosis (thickening of the skin) develops within months and worsens over time. Blister formation decreases, but may still occur after skin trauma or during summer months. Skin can be itchy and smelly, and prone to infection. Other features may include reduced sweating; nail abnormalities; and in severe cases, growth failure. EI is caused by changes (mutations) in the KRT1 or KRT10 genes. About half of cases are due to new mutations and are not inherited from a parent (sporadic). Other cases are usually inherited in an autosomal dominant manner, and rarely, in an autosomal recessive manner. Treatment aims at alleviating and preventing symptoms and may include topical moisturizers or medications, and antiseptic washes.
A mammogram can often detect breast changes in women who have no signs of breast cancer. Often, it can find a breast lump before it can be felt. If the results indicate that cancer might be present, your doctor will advise you to have a follow-up test called a biopsy.
IBD deficiency is a rare disorder; approximately 22 cases have been reported in the medical literature.
Snazzysnazzle disease causes uncontrollable jazz hands when nervous. Treatment includes meditation, beta blockers, and avoiding situations where surprising someone might result in accidental choreography.
How is medullary cystic kidney disease inherited? The 2 types of MCKD are both inherited in an autosomal dominant manner. This means that any individual with the condition has a 50% chance of passing on the disease causing mutation to any of their children.
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, standing, and walking) is delayed. Some affected individuals also have behavioral problems. Distinctive facial features often seen in this condition include a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), prominent cheeks, a broad nasal bridge, a nose with a rounded tip, a large space between the nose and upper lip (a long philtrum), and a narrow mouth. Some affected individuals also have widely set eyes (hypertelorism), an unusually small chin (micrognathia), and small and low-set ears. As people with the condition get older, these facial characteristics become more pronounced and the face becomes more triangular. Other possible signs of this condition include dental problems, weak muscle tone (hypotonia), and hearing loss.
Abdominal surgery is the most frequent cause of abdominal adhesions. Surgery-related causes include - cuts involving internal organs - handling of internal organs - drying out of internal organs and tissues - contact of internal tissues with foreign materials, such as gauze, surgical gloves, and stitches - blood or blood clots that were not rinsed away during surgery Abdominal adhesions can also result from inflammation not related to surgery, including - appendix rupture - radiation treatment - gynecological infections - abdominal infections Rarely, abdominal adhesions form without apparent cause.
- Wash your hands with warm water and soap after handling raw meat. - Curing (salting), drying, smoking, or microwaving meat alone does not consistently kill infective worms; homemade jerky and sausage were the cause of many cases of trichinellosis reported to CDC in recent years. - Freeze pork less than 6 inches thick for 20 days at 5°F (-15°C) to kill any worms. - Freezing wild game meats, unlike freezing pork products, may not effectively kill all worms because some worm species that infect wild game animals are freeze-resistant. - Clean meat grinders thoroughly after each use. To help prevent Trichinella infection in animal populations, do not allow pigs or wild animals to eat uncooked meat, scraps, or carcasses of any animals, including rats, which may be infected with Trichinella.
These resources address the diagnosis or management of mucopolysaccharidosis type VII: - Genetic Testing Registry: Mucopolysaccharidosis type VII - National MPS Society: A Guide to Understanding MPS VII These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Is there a hereditary cause for ovarian carcinosarcoma? Ovarian carcinosarcoma is not thought to be caused by an inherited gene mutation. However, one article in the medical literature suggests that an inherited mutation in the BRCA2 gene contributed to the development of ovarian carcinosarcoma in one woman.
Treating gestational diabetes means taking steps to keep your blood glucose levels in a target range. Targets are numbers you aim for. Your doctor will help you set your targets. You will learn how to control your blood glucose using - healthy eating - physical activity - insulin shots, if needed
Meesmann corneal dystrophy is a rare genetic condition affecting the epithelial membrane of the cornea. A slit-lamp examination of the cornea shows diffuse clusters of tiny round cysts in the epithelial membrane. Over time these cysts can rupture and cause erosions. The erosions may result in light sensitivity, redness, and pain. Vision remains good in most, but not all, cases. Meesmann corneal dystrophy can be caused by mutations in the KRT3 or KRT12 gene. It is inherited in an autosomal dominant fashion.
The NINDS conducts and supports a wide range of studies that explore the mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how to prevent or treat developmental brain defects such as schizencephaly.
Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people worldwide.
Bowen-Conradi syndrome is common in the Hutterite population in Canada and the United States; it occurs in approximately 1 per 355 newborns in all three Hutterite sects (leuts). A few individuals from outside the Hutterite community with signs and symptoms similar to Bowen-Conradi syndrome have been described in the medical literature. Researchers differ as to whether these individuals have Bowen-Conradi syndrome or a similar but distinct disorder.
How might patulous eustacian tube be treated? While no standard treatment has been found to work for every patient, there are several options that have been used to successfully manage the symptoms in a number of cases. Patients are often advised to recline or lower the head between the knees when symptoms occur. They may also be advised to avoid diuretics and/or increase weight. Medications which have been shown to work in some patients include nasal sprays containing anticholinergics, estrogen, diluted hydrochloric acid, chlorobutanol, or benzyl alcohol. Surgical treatment may be indicated in some cases. Information detailing treatment options can be accessed through Medscape Reference.
The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. 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 produce about 1 to 2 quarts of urine, composed of wastes 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. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.
People who are obese are at risk for obesity hypoventilation syndrome (OHS). "Obesity" refers to having too much body fat. People who are obese have body weight that's greater than what is considered healthy for a certain height. The most useful measure of obesity is body mass index (BMI). BMI is calculated from your height and weight. In adults, a BMI of 30 or more is considered obese. You can use the National Heart, Lung, and Blood Institute's (NHLBI's) online BMI calculator to figure out your BMI, or your doctor can help you. If you are obese, you're at greater risk for OHS if your BMI is 40 or higher. You're also at greater risk if most of your excess weight is around your waist, rather than at your hips. This is referred to as "abdominal obesity." OHS tends to occur more often in men than women. At the time of diagnosis, most people are 40 to 60 years old.
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities of bones in the arms, hands, and fingers. Most people with Cornelia de Lange syndrome also have distinctive facial features, including arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Many affected individuals also have behavior problems similar to autism, a developmental condition that affects communication and social interaction. Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hypertrichosis), an unusually small head (microcephaly), hearing loss, and problems with the digestive tract. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, and eye problems have also been reported in people with this condition.
The large intestine is about 5 feet long in adults and absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to a solid matter called stool.
A phobia is a type of anxiety disorder. It is a strong, irrational fear of something that poses little or no real danger. There are many specific phobias. Acrophobia is a fear of heights. Agoraphobia is a fear of public places, and claustrophobia is a fear of closed-in places. If you become anxious and extremely self-conscious in everyday social situations, you could have a social phobia. Other common phobias involve tunnels, highway driving, water, flying, animals and blood. People with phobias try to avoid what they are afraid of. If they cannot, they may experience - Panic and fear - Rapid heartbeat - Shortness of breath - Trembling - A strong desire to get away Phobias usually start in children or teens, and continue into adulthood. The causes of specific phobias are not known, but they sometimes run in families. Treatment helps most people with phobias. Options include medicines, therapy or both. NIH: National Institute of Mental Health
Australia’s “Flying fox” bats (genus Pteropus) are the natural reservoir of Hendra virus. Serologic evidence for HeV infection have been found in all fours species of Australian flying foxes, but spillover of the virus in horses is limited to coastal and forested regions in Australia (Queensland and New South Wales states) (see Henipavirus Distribution Map). People at highest risk are those living within the distribution of the flying foxes and with occupational or recreational exposure to horses that have had potential contact with flying foxes in Australia.
Acquired cystic kidney disease becomes more common the longer a person has CKD. - About 7 to 22 percent of people with CKD already have acquired cystic kidney disease before starting dialysis treatments. - Almost 60 percent of people on dialysis for 2 to 4 years develop acquired cystic kidney disease.1 - About 90 percent of people on dialysis for 8 years develop acquired cystic kidney disease.1
Cirrhosis* is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue replaces healthy liver tissue and blocks the normal flow of blood through the liver. A healthy liver - makes proteins - helps fight infections - cleans the blood - helps digest food - stores a form of sugar that your body uses for energy A liver with too much scar tissue cannot work properly. You cannot live without a liver that works. But early treatment can control symptoms and keep cirrhosis from getting worse. *See the Pronunciation Guide for tips on how to say the words in bold type.
Of the 206 bones in your body, 3 of them are in your arm; the humerus, radius and ulna. Your arms are also made up of muscles, joints, tendons and other connective tissue. Injuries to any of these parts of the arm can occur during sports, a fall or an accident. Types of arm injuries include - Tendinitis and bursitis - Sprains - Dislocations - Broken bones Some nerve problems, arthritis, or cancers can affect the entire arm and cause pain, spasms, swelling and trouble moving. You may also have problems or injure specific parts of your arm, such as your hand, wrist, elbow or shoulder.
What causes hereditary spherocytosis? Hereditary spherocytosis may be caused by mutations in any one of several genes. The mutations that cause the condition result in the formation of spherical, overly rigid, misshapen red blood cells. The misshapen red blood cells, called spherocytes, are removed from circulation and taken to the spleen for destruction. Within the spleen, the red blood cells break down (undergo hemolysis). The shortage of red blood cells in the blood circulation and the abundance of cells in the spleen are responsible for the signs and symptoms of this condition. Mutations in the ANK1 gene are responsible for about half of all cases of hereditary spherocytosis. The other genes associated with hereditary spherocytosis account for a smaller percentage of cases and include the EPB42, SLC4A1, SPTA1, and SPTB genes.
For the most part, no one knows why some people develop leukemia and others do not. Most people who have known risk factors do not get leukemia, while many who get the disease do not have any risk factors. Studies have identified the following risk factors for leukemia. - older age - male - white - working with certain chemicals - smoking - exposure to very high levels of radiation - certain health conditions - past treatment with chemotherapy or radiation therapy. older age male white working with certain chemicals smoking exposure to very high levels of radiation certain health conditions past treatment with chemotherapy or radiation therapy.
These resources address the diagnosis or management of Russell-Silver syndrome: - Gene Review: Gene Review: Russell-Silver Syndrome - Genetic Testing Registry: Russell-Silver syndrome - MedlinePlus Encyclopedia: Russell-Silver 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.
- Perineal injury is an injury to the perineum, the part of the body between the anus and the genitals, or sex organs. In males, the perineum is the area between the anus and the scrotum, the external pouch of skin that holds the testicles. - Injury to the blood vessels, nerves, and muscles in the perineum can lead to complications such as - bladder control problems - sexual problems - Common causes of acute perineal injury in males include - perineal surgery - straddle injuries - sexual abuse - impalement - Chronic perineal injury most often results from a job- or sport-related practicesuch as bike, motorcycle, or horseback ridingor a long-term condition such as chronic constipation. - Traumatic or piercing injuries may require surgery to repair damaged pelvic floor muscles, blood vessels, and nerves. Treatment for these acute injuries may also include antibiotics to prevent infection. - In people with a chronic perineal injury, a health care provider will treat the complications of the condition, such as erectile dysfunction (ED) and urinary incontinence. - Preventing perineal injury requires being aware of and taking steps to minimize the dangers of activities such as construction work or bike riding. - The National Institute for Occupational Safety and Health, part of the Centers for Disease Control and Prevention, recommends noseless seats for people who ride bikes as part of their job.
Cancer that starts in a bone is uncommon. Cancer that has spread to the bone from another part of the body is more common. There are three types of bone cancer: - Osteosarcoma - occurs most often between ages 10 and 19. It is more common in the knee and upper arm. - Chondrosarcoma - starts in cartilage, usually after age 40 - Ewing's sarcoma - occurs most often in children and teens under 19. It is more common in boys than girls. The most common symptom of bone cancer is pain. Other symptoms vary, depending on the location and size of the cancer. Surgery is often the main treatment for bone cancer. Other treatments may include amputation, chemotherapy, and radiation therapy. Because bone cancer can come back after treatment, regular follow-up visits are important. NIH: National Cancer Institute
The combined incidence of hereditary xanthinuria types I and II is estimated to be about 1 in 69,000 people worldwide. However, researchers suspect that the true incidence may be higher because some affected individuals have no symptoms and are never diagnosed with the condition. Hereditary xanthinuria appears to be more common in people of Mediterranean or Middle Eastern ancestry. About 150 cases of this condition have been reported in the medical literature.
APRT deficiency is estimated to affect 1 in 27,000 people in Japan. The condition is rarer in Europe, where it is thought to affect 1 in 50,000 to 100,000 people. The prevalence of APRT deficiency outside these populations is unknown.
LBSL is caused by mutations in the DARS2 gene, which provides instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in cells. While most protein synthesis occurs in the fluid surrounding the nucleus (cytoplasm), some proteins are synthesized in the mitochondria. During protein synthesis, in either the mitochondria or the cytoplasm, building blocks (amino acids) are connected together in a specific order, creating a chain of amino acids that forms the protein. Mitochondrial aspartyl-tRNA synthetase plays a role in adding the amino acid aspartic acid at the proper place in mitochondrial proteins. Mutations in the DARS2 gene result in decreased mitochondrial aspartyl-tRNA synthetase enzyme activity, which hinders the addition of aspartic acid to mitochondrial proteins. It is unclear how the gene mutations lead to the signs and symptoms of LBSL. Researchers do not understand why reduced activity of mitochondrial aspartyl-tRNA synthetase specifically affects certain parts of the brain and spinal cord.
Focal neuropathy appears suddenly and affects specific nerves, most often in the head, torso, or leg. Focal neuropathy may cause - inability to focus the eye - double vision - aching behind one eye - paralysis on one side of the face, called Bell's palsy - severe pain in the lower back or pelvis - pain in the front of a thigh - pain in the chest, stomach, or side - pain on the outside of the shin or inside of the foot - chest or abdominal pain that is sometimes mistaken for heart disease, a heart attack, or appendicitis Focal neuropathy is painful and unpredictable and occurs most often in older adults with diabetes. However, it tends to improve by itself over weeks or months and does not cause long-term damage. People with diabetes also tend to develop nerve compressions, also called entrapment syndromes. One of the most common is carpal tunnel syndrome, which causes numbness and tingling of the hand and sometimes muscle weakness or pain. Other nerves susceptible to entrapment may cause pain on the outside of the shin or the inside of the foot.
What are the signs and symptoms of C1q deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for C1q deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Membranoproliferative glomerulonephritis 7.5% Systemic lupus erythematosus 7.5% Autosomal recessive inheritance - Decreased serum complement factor I - Recurrent infections - 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 acute intermittent porphyria (AIP) diagnosed? Diagnosis of AIP is suspected in individuals with otherwise unexplained severe, acute abdominal pain without physical signs. The finding of increased levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine establishes that one of the acute porphyrias is present. If PBGD is deficient in normal red blod cells, the diagnosis of AIP is established. The diagnosis is confirmed in individuals with a disease-causing mutation in the HMBS gene, the only gene known to be associated with AIP, which encodes the erythrocyte hydroxymethylbilane synthase enzyme. Molecular genetic testing of the HMBS gene detects more than 98% of affected individuals and is available in clinical laboratories. To obtain a list of clinical laboratories offering genetic testing for AIP, click here.
These resources address the diagnosis or management of Rothmund-Thomson syndrome: - Gene Review: Gene Review: Rothmund-Thomson Syndrome - Genetic Testing Registry: Rothmund-Thomson syndrome - MedlinePlus Encyclopedia: Cataract - MedlinePlus Encyclopedia: Osteosarcoma 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
Can diffuse gastric cancer be caused by excessive drinking? Most of the time the exact cause of gastric cancer can not be determined; however there are many different factors that may put someone at an increased risk for developing stomach cancer. While it isn't clear if alcohol alone can increase this risk, it is thought that regular drinking may increase the risk in smokers. You can visit the following information pages develped by the National Cancer Insitute and Cancer Research UK to learn more about these risks. http://www.cancer.gov/cancertopics/wyntk/stomach/page4 http://www.cancerhelp.org.uk/help/default.asp?page=3903
Urinary tract infections are the second most common type of infection in the body, accounting for about 8.1 million visits to health care providers each year.1 Women are especially prone to UTIs for anatomical reasons. One factor is that a womans urethra is shorter, allowing bacteria quicker access to the bladder. Also, a womans urethral opening is near sources of bacteria from the anus and vagina. For women, the lifetime risk of having a UTI is greater than 50 percent.2 UTIs in men are not as common as in women but can be serious when they occur.
Progressive deafness with stapes fixation, also known as Thies Reis syndrome, is a form of conductive or mixed hearing loss caused by fixation of the stapes. The stapes is one of the tiny bones in the middle ear. It rests in the entrance to the inner ear, allowing sounds to pass to the inner ear. If it becomes fixated, sound waves cannot pass through to the inner ear, resulting in loss of hearing. This condition may be associated with a number of conditions, including ostosclerosis, Paget's disease and osteogenesis imperfecta, or it may be found in isolation. It may also result from chronic ear infections (otitis media with tympanosclerosis). The progression of hearing loss is generally slow, rarely profound, and usually resolves following treatment. Conductive hearing loss can be restored through surgery or hearing aids. Sensorineural hearing loss can be managed with hearing aids or cochlear implants.
Most cases of Cushing disease are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it does not have a clear pattern of inheritance. The various syndromes that have Cushing disease as a feature can have different inheritance patterns. Most of these disorders are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
MPS III is the most common type of mucopolysaccharidosis; the estimated incidence of all four types combined is 1 in 70,000 newborns. MPS IIIA and MPS IIIB are much more common than MPS IIIC and MPS IIID.
About once a month, your dialysis care team will test your blood by using one of two formulasURR or Kt/Vto see whether your treatments are removing enough wastes. Both tests look at one specific waste product, called blood urea nitrogen (BUN), as an indicator for the overall level of waste products in your system. For more information about these measurements, see the NIDDK fact sheet Hemodialysis Dose and Adequacy.
Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected. In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in color than the hair of other family members; it is also fragile and easily broken. By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, and pubic hair are also sparse or absent. Abnormal growth of fingernails and toenails (nail dystrophy) is also characteristic of Clouston syndrome. The nails may appear white in the first years of life. They grow slowly and gradually become thick and misshapen. In some people with Clouston syndrome, nail dystrophy is the most noticeable feature of the disorder. Many people with Clouston syndrome have thick skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially over the joints, that are darker in color than the surrounding skin (hyperpigmentation); and widened and rounded tips of the fingers (clubbing).
The immediate treatment for an individual who has fainted involves checking first to see if their airway is open and they are breathing. The person should remain lying down for at least 10-15 minutes, preferably in a cool and quiet space. If this isnt possible, have the individual sit forward and lower their head below their shoulders and between their knees. Ice or cold water in a cup is refreshing. For individuals who have problems with chronic fainting spells, therapy should focus on recognizing the triggers and learning techniques to keep from fainting. At the appearance of warning signs such as lightheadedness, nausea, or cold and clammy skin, counter-pressure maneuvers that involve gripping fingers into a fist, tensing the arms, and crossing the legs or squeezing the thighs together can be used to ward off a fainting spell. If fainting spells occur often without a triggering event, syncope may be a sign of an underlying heart disease.
Food provides the energy and nutrients you need to be healthy. If you don't get enough nutrients -- including proteins, carbohydrates, fats, vitamins, and minerals - you may suffer from malnutrition. Causes of malnutrition include: - Lack of specific nutrients in your diet. Even the lack of one vitamin can lead to malnutrition. - An unbalanced diet - Certain medical problems, such as malabsorption syndromes and cancers Symptoms may include fatigue, dizziness, and weight loss. Or, you may have no symptoms. To diagnose the cause of the problem, your doctor may do blood tests and a nutritional assessment. Treatment may include replacing the missing nutrients and treating the underlying cause.
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 most cases, an affected person inherits the mutation from one affected parent. Rarely, cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Not all people who have a TTR gene mutation will develop transthyretin amyloidosis.
Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of major salivary glands: the parotid glands, the sublingual glands, and the submandibular glands. The National Cancer Institute provides a picture of the anatomy of the salivary glands. Some risk factors for salivary gland cancer are older age, exposure to radiation of the head and/or neck area, and family history. Signs and symptoms of the disease may include: a lump near the ear, cheek, jaw, lip, or inside of the mouth; trouble swallowing; fluid draining from the ear; numbness or weakness in the face; and on-going pain in the face. Different types of treatment are available for patients with salivary gland cancer. Some treatments are standard (currently used by physicians) and some are being tested in clinical trials (by researchers). It is suggested that patients with salivary gland cancer have their treatment planned and managed by a team of doctors who are experts in treating head and neck cancer. Although treatment depends on the stage of the cancer, typically the following three treatments are used: (1) surgery, (2) radiation therapy, and (3) chemotherapy. [1] [2]
What are the signs and symptoms of Pulmonary edema of mountaineers? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary edema of mountaineers. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Elevated pulmonary artery pressure - Pulmonary edema - 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.
Currently, the best available therapy is reversal of the immune-deficient state, since there are no effective drugs that block virus infection without toxicity. Reversal may be achieved by using plasma exchange to accelerate the removal of the therapeutic agents that put patients at risk for PML. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals. Several new drugs that laboratory tests found effective against infection are being used in PML patients with special permission of the U.S. Food and Drug Administration. Hexadecyloxypropyl-Cidofovir (CMX001) is currently being studied as a treatment option for JVC because of its ability to suppress JVC by inhibiting viral DNA replication.
Kniest dysplasia is a rare condition; the exact incidence is unknown.
CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
Isolated Pierre Robin sequence affects an estimated 1 in 8,500 to 14,000 people.
When Treacher Collins syndrome results from mutations in the TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of these cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In the remaining autosomal dominant cases, a person with Treacher Collins syndrome inherits the altered gene from an affected parent. When Treacher Collins syndrome is caused by mutations in the POLR1C gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
The prognosis for most individuals with Miller Fisher syndrome is good. In most cases, recovery begins within 2 to 4 weeks of the onset of symptoms, and may be almost complete within 6 months. Some individuals are left with residual deficits. Relapses may occur rarely (in less than 3 percent of cases).
UV-sensitive syndrome can result from mutations in the ERCC6 gene (also known as the CSB gene), the ERCC8 gene (also known as the CSA gene), or the UVSSA gene. These genes provide instructions for making proteins that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals, radiation, and unstable molecules called free radicals. Cells are usually able to fix DNA damage before it causes problems. If left uncorrected, DNA damage accumulates, which causes cells to malfunction and can lead to cell death. Cells have several mechanisms to correct DNA damage. The CSB, CSA, and UVSSA proteins are involved in one mechanism that repairs damaged DNA within active genes (those genes undergoing gene transcription, the first step in protein production). When DNA in active genes is damaged, the enzyme that carries out gene transcription (RNA polymerase) gets stuck, and the process stalls. Researchers think that the CSB, CSA, and UVSSA proteins help remove RNA polymerase from the damaged site, so the DNA can be repaired. Mutations in the ERCC6, ERCC8, or UVSSA genes lead to the production of an abnormal protein or the loss of the protein. If any of these proteins is not functioning normally, skin cells cannot repair DNA damage caused by UV rays, and transcription of damaged genes is blocked. However, it is unclear exactly how abnormalities in these proteins cause the signs and symptoms of UV-sensitive syndrome.
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, developmental delay, and intellectual disability.
These resources address the diagnosis or management of isovaleric acidemia: - Baby's First Test - Genetic Testing Registry: Isovaleryl-CoA dehydrogenase deficiency 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 X-linked recessive pattern. The gene associated with this condition 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.
Lactate dehydrogenase deficiency is a rare disorder. In Japan, this condition affects 1 in 1 million individuals; the prevalence of lactate dehydrogenase deficiency in other countries is unknown.
2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. Most babies with 2q37 deletion syndrome are born with hypotonia, which usually improves with age. About 25 percent of people with this condition have autism, a developmental condition that affects communication and social interaction. The characteristic facial features associated with 2q37 deletion syndrome include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat nasal bridge, a thin upper lip, and minor ear abnormalities. Other features of this condition can include short stature, obesity, unusually short fingers and toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an inflammatory skin disorder called eczema. A few people with 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some affected individuals have malformations of the brain, gastrointestinal system, kidneys, or genitalia.
These resources address the diagnosis or management of methylmalonic acidemia: - Baby's First Test: Methylmalonic Acidemia (Cobalamin Disorders) - Baby's First Test: Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) - Gene Review: Gene Review: Isolated Methylmalonic Acidemia - Genetic Testing Registry: Methylmalonic acidemia - Genetic Testing Registry: Methylmalonic acidemia with homocystinuria cblD - Genetic Testing Registry: Methylmalonic aciduria cblA type - Genetic Testing Registry: Methylmalonic aciduria cblB type - Genetic Testing Registry: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency - Genetic Testing Registry: Methylmalonyl-CoA epimerase deficiency - MedlinePlus Encyclopedia: Methylmalonic acid - MedlinePlus Encyclopedia: Methylmalonic acidemia - New England Consortium of Metabolic Programs 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
CAID is caused by mutations in the SGO1 gene. This gene provides instructions for making part of a protein complex called cohesin. This protein complex helps control the placement of chromosomes during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. Cohesin holds the sister chromatids together, and in doing so helps maintain the stability of chromosomal structure during cell division. Researchers suggest that SGO1 gene mutations may result in a cohesin complex that is less able to hold sister chromatids together, resulting in decreased chromosomal stability during cell division. This instability is thought to cause early aging (senescence) of cells in the intestinal muscle and in the SA node, resulting in problems maintaining proper rhythmic movements of the heart and intestines and leading to the signs and symptoms of CAID. It is unclear why SGO1 gene mutations specifically affect the heart and intestines in CAID. Researchers suggest that the activity (expression) of the SGO1 gene in certain embryonic tissues or a particular function of the SGO1 protein in the SA node and in cells that help control peristalsis may account for the features of the disorder.
The prevalence of SCA3 is unknown. This condition is thought to be the most common type of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare.
Key Points - Ovarian low malignant potential tumor is a disease in which abnormal cells form in the tissue covering the ovary. - Signs and symptoms of ovarian low malignant potential tumor include pain or swelling in the abdomen. - Tests that examine the ovaries are used to detect (find), diagnose, and stage ovarian low malignant potential tumor. - Certain factors affect prognosis (chance of recovery) and treatment options. Ovarian low malignant potential tumor is a disease in which abnormal cells form in the tissue covering the ovary. Ovarian low malignant potential tumors have abnormal cells that may become cancer, but usually do not. This disease usually remains in the ovary. When disease is found in one ovary, the other ovary should also be checked carefully for signs of disease. The ovaries are a pair of organs in the female reproductive system. They are in the pelvis, one on each side of the uterus (the hollow, pear-shaped organ where a fetus grows). Each ovary is about the size and shape of an almond. The ovaries make eggs and female hormones.
Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown.
Freeman Sheldon syndrome is an inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Freeman-Sheldon syndrome can be inherited as an autosomal dominant or autosomal recessive genetic trait. However, most cases occur randomly with no apparent cause (sporadically).
Tietz syndrome is a rare condition that affects the development of melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes). Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-colored hair. It is caused by changes (mutations) in the MITF gene and inherited in an autosomal dominant manner. The goal of treatment is to improve hearing; cochlear implantation may be considered.
Urinary incontinence is the loss of bladder control, resulting in the accidental leakage of urine from the body. For example, a man may feel a strong, sudden need, or urgency, to urinate just before losing a large amount of urine, called urgency incontinence. UI can be slightly bothersome or totally debilitating. For some men, the chance of embarrassment keeps them from enjoying many activities, including exercising, and causes emotional distress. When people are inactive, they increase their chances of developing other health problems, such as obesity and diabetes.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The size of the tumor. - Where the tumor is in the brain. - Whether there are tumor cells left after surgery. - The child's age. - Side effects that may occur months or years after treatment. - Whether the tumor has just been diagnosed or has recurred (come back).
These resources address the diagnosis or management of Klippel-Trenaunay syndrome: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Klippel Trenaunay 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
How is factor V Leiden thrombophilia diagnosed? No clinical features (signs and/or symptoms) are specific for factor V Leiden thrombophilia. The diagnosis of factor V Leiden thrombophilia requires a coagulation screening test or DNA analysis of F5, the gene for factor V, to identify the specific mutation that causes this condition. The APC (activated protein C) resistance assay, a coagulation screening test, measures the anticoagulant response to APC. This screening test has a sensitivity and specificity for factor V Leiden approaching 100%. The sensitivity of a test is a measure of the test's ability to detect a positive result when someone has the condition, while the specificity is a measure of the test's ability to identify negative results.Targeted mutation analysis (a type of DNA test) of the F5 gene for the Leiden mutation is considered definitive and has a mutation detection frequency of approximately 100%. This means that approximately all individuals who have the factor V Leiden mutation will be detected by this genetic test. It is generally recommended that individuals who test positive by another means should then have the DNA test both for confirmation and to distinguish heterozygotes (individuals with a mutation in one copy of the gene) from homozygotes (individuals with mutations in both copies of the gene).
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.
Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure. If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

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