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How might Creutzfeldt-Jakob disease be treated? There is no treatment that can cure or control Creutzfeldt-Jakob disease (CJD). Researchers have tested many drugs, including amantadine, steroids, interferon, acyclovir, antiviral agents, and antibiotics. Studies of a variety of other drugs are now in progress. However, so far none of these treatments has shown any consistent benefit in humans. Current treatment for CJD is aimed at alleviating symptoms and making the patient as comfortable as possible. Opiate drugs can help relieve pain if it occurs, and the drugs clonazepam and sodium valproate may help relieve myoclonus. During later stages of the disease, changing the persons position frequently can keep him or her comfortable and helps prevent bedsores. A catheter can be used to drain urine if the patient cannot control bladder function, and intravenous fluids and artificial feeding also may be used.
Oculocutaneous albinism is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.
Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the trunk results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis). Affected individuals also have abnormalities of the wrist (carpal) and ankle (tarsal) bones and inward- and upward-turning feet (clubfeet). Characteristic facial features include a round face, a large forehead (frontal bossing), and nostrils that open to the front rather than downward (anteverted nares). Some people with spondylocarpotarsal synostosis syndrome have an opening in the roof of the mouth (a cleft palate), hearing loss, thin tooth enamel, flat feet, or an unusually large range of joint movement (hypermobility). Individuals with this disorder can survive into adulthood. Intelligence is generally unaffected, although mild developmental delay has been reported in some affected individuals.
What are the signs and symptoms of Mondini dysplasia? Mondini dysplasia is a congenital malformation (present at birth). It may occur either unilaterally (in one ear) or bilaterally (in both ears). Most affected individuals have profound sensorineural hearing loss, but some individuals do have residual hearing. There have also been reports of affected individuals having normal hearing. Mondini dysplasia can also predispose to recurrent meningitis because the defect can act as a "port of entry" to the fluid that surrounds the brain and spinal cord (cerebrospinal fluid, or CSF). Sometimes, individuals are not diagnosed before several episodes of recurrent meningitis occur. The condition may occur with other abnormalities of the ear or other organs, or it may be isolated. The severity of the physical abnormality does not appear to correlate with the severity of the signs and symptoms in affected individuals.
Crouzon syndrome is seen in about 16 per million newborns. It is the most common craniosynostosis syndrome.
The large intestine, which includes the colon and rectum, is the last part of the digestive tract. The large intestines main job is to absorb water and hold stool. The rectum connects the colon to the anus. Stool passes out of the body through the anus. At birth, the large intestine is about 2 feet long. An adults large intestine is about 5 feet long.
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.
Multiple system atrophy has a prevalence of about 2 to 5 per 100,000 people.
Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. These genes provide instructions for making the two parts (subunits) of a receptor protein called integrin alphaIIb/beta3 (IIb3). This protein is abundant on the surface of platelets. Platelets are small cell fragments that circulate in blood and are an essential component of blood clots. During clot formation, integrin IIb3 helps platelets bind together. Blood clots protect the body after injury by sealing off damaged blood vessels and preventing further blood loss. ITGA2B or ITGB3 gene mutations result in a shortage (deficiency) of functional integrin IIb3. As a result, platelets cannot clump together to form a blood clot, leading to prolonged bleeding. Three types of Glanzmann thrombasthenia have been classified according to the amount of integrin IIb3 that is available. People with type I (the most common type) have less than 5 percent of normal integrin IIb3 levels, people with type II have between 5 and 20 percent of normal integrin IIb3 levels, and people with the variant type have adequate integrin IIb3 levels but produce only nonfunctional integrin. Some people with Glanzmann thrombasthenia do not have an identified mutation in either the ITGA2B or ITGB3 gene; the cause of the disorder in these individuals is unknown.
Cystinosis affects approximately 1 in 100,000 to 200,000 newborns worldwide. The incidence is higher in the province of Brittany, France, where the disorder affects 1 in 26,000 individuals.
The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusthe opening where stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. The upper GI tract includes the mouth, esophagus, stomach, duodenum, and small intestine. The esophagus carries food and liquids from the mouth to the stomach. The stomach slowly pumps the food and liquids into the intestine, which then absorbs needed nutrients. Two digestive organs, the liver and the pancreas, produce digestive juices that reach the small intestine through small tubes called ducts. The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. 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. Stool passes from the colon to the rectum. The rectum is located between the last part of the coloncalled the sigmoid colonand the anus. The rectum stores stool prior to a bowel movement. During a bowel movement, stool moves from the rectum to the anus.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the stage and grade of the tumor. The treatment options depend on the following: - The stage and grade of the tumor. - Where the tumor is. - Whether the patient's other kidney is healthy. - Whether the cancer has recurred. Most transitional cell cancer of the renal pelvis and ureter can be cured if found early.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - How the melanoma cells look under a microscope. - The size and thickness of the tumor. - The part of the eye the tumor is in (the iris, ciliary body, or choroid). - Whether the tumor has spread within the eye or to other places in the body. - Whether there are certain changes in the genes linked to intraocular melanoma. - The patient's age and general health. - Whether the tumor has recurred (come back) after treatment.
The occurrence of the disease in humans has been associated only with infection of an intermediate species such as horses. Early recognition of the disease in the intermediate animal host is probably the most crucial means of limiting future human cases. Hendra virus infection can be prevented by avoiding horses that are ill or may be infected with HeV and using appropriate personal protective equipment when contact is necessary, as in veterinary procedures. A commercial vaccine has been recently licensed in Australia for horses and could be beneficial for other animal species and eventually humans.
The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 2 likely accounts for only a small percentage of all spastic paraplegia cases.
Tetrasomy 18p results from the presence of an abnormal extra chromosome, called an isochromosome 18p, in each cell. An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 18p is a version of chromosome 18 made up of two p arms. Cells normally have two copies of each chromosome, one inherited from each parent. In people with tetrasomy 18p, cells have the usual two copies of chromosome 18 plus an isochromosome 18p. As a result, each cell has four copies of the short arm of chromosome 18. (The word "tetrasomy" is derived from "tetra," the Greek word for "four.") The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder.
The best way to prevent whipworm infection is to always: - Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter ("night soil") or wastewater is used to fertilize crops. - Wash your hands with soap and warm water before handling food. - Teach children the importance of washing hands to prevent infection. - Wash, peel, or cook all raw vegetables and fruits before eating, particularly those that have been grown in soil that has been fertilized with manure. More on: Handwashing Transmission of infection to others can be prevented by - Not defecating outdoors. - Effective sewage disposal systems.
The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations.
Do all people with catecholaminergic polymorphic ventricular tachycardia require treatment? It has been recommended that all people clinically diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) receive treatment. Some individuals who have never had or demonstrated symptoms of CPVT, for example asymptomatic family members with CASQ2 gene mutations, may still benefit from treatment. We recommend that you speak with your healthcare provider regarding your treatment options.
There is not one right treatment for everyone with alcohol problems. In general, many people need more than one kind of treatment. Medicines can help people with alcohol use disorder quit drinking. Meeting with a therapist or substance-abuse counselor or with a support group may also help. Support from family and friends is important, too. A doctor can help a person decide on the best treatment. Making a change sooner rather than later makes treatment more likely to succeed. Learn more about treatment options for alcohol problems. Learn more about available types of alcohol treatment. (Watch the video to learn more about getting help for alcohol use disorder (AUD). 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.)
GSDVII is thought to be a rare condition; more than 100 cases have been described in the scientific literature.
HIV stands for human immunodeficiency virus. It kills or damages the body's immune system cells. AIDS stands for acquired immunodeficiency syndrome. It is the most advanced stage of infection with HIV. HIV most often spreads through unprotected sex with an infected person. It may also spread by sharing drug needles or through contact with the blood of an infected person. Women can give it to their babies during pregnancy or childbirth. The first signs of HIV infection may be swollen glands and flu-like symptoms. These may come and go a month or two after infection. Severe symptoms may not appear until months or years later. A blood test can tell if you have HIV infection. Your health care provider can perform the test, or call the national referral hotline at 1-800-CDC-INFO (24 hours a day, 1-800-232-4636 in English and en espaol; 1-888-232-6348 - TTY). There is no cure, but there are many medicines to fight both HIV infection and the infections and cancers that come with it. People can live with the disease for many years.
Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish.
Researchers have not found that a mothers eating, diet, and nutrition play a role in causing or preventing urine blockage in newborns.
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. The amount of time between episodes may vary from weeks to years. Episodes usually occur spontaneously, but are sometimes brought on by a variety of triggers (such as injury, infection, or stress). Symptoms during fever episodes may include abdominal, muscle or joint pains; skin rashes (usually on the limbs); puffiness around the eyes; and inflammation in various areas of the body. Some people develop amyloidosis. TRAPS is caused by mutations in the TNFRSF1A gene and is inherited in an autosomal dominant manner. Treatment may include systemic corticosteroids at the beginning of an episode to reduce its severity and duration.
Leishmaniasis is a parasitic disease that is found in parts of the tropics, subtropics, and southern Europe. Leishmaniasis is caused by infection with Leishmania parasites, which are spread by the bite of infected sand flies. There are several different forms of leishmaniasis in people. The most common forms are cutaneous leishmaniasis, which causes skin sores, and visceral leishmaniasis, which affects several internal organs (usually spleen, liver, and bone marrow).
What are the signs and symptoms of Bantu siderosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Bantu siderosis. 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) Elevated transferrin saturation - 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.
Legg-Calv-Perthes disease is usually not caused by genetic factors. The cause in these cases is unknown. In a small percentage of cases, mutations in the COL2A1 gene cause the bone abnormalities characteristic of Legg-Calv-Perthes disease. The COL2A1 gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework. COL2A1 gene mutations involved in Legg-Calv-Perthes disease lead to production of an altered protein; collagen that contains this protein may be less stable than normal. Researchers speculate that the breakdown of bone characteristic of Legg-Calv-Perthes disease is caused by impaired blood flow to the femoral head, which leads to death of the bone tissue (osteonecrosis); however it is unclear how abnormal type II collagen is involved in this process or why the hips are specifically affected.
There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. For example, ataxia caused by a metabolic disorder may be treated with medications and a controlled diet. Vitamin deficiency is treated with vitamin therapy. A variety of drugs may be used to either effectively prevent symptoms or reduce the frequency with which they occur. Physical therapy can strengthen muscles, while special devices or appliances can assist in walking and other activities of daily life.
A mutation in the COL1A1 gene causes Caffey disease. The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, and skin. In these tissues, type I collagen is found in the spaces around cells. The collagen molecules are cross-linked in long, thin, fibrils that are very strong and flexible. Type I collagen is the most abundant form of collagen in the human body. The COL1A1 gene mutation that causes Caffey disease replaces the protein building block (amino acid) arginine with the amino acid cysteine at protein position 836 (written as Arg836Cys or R836C). This mutation results in the production of type I collagen fibrils that are variable in size and shape, but it is unknown how these changes lead to the signs and symptoms of Caffey disease.
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 Find eye health organizations that address diabetic eye disease.
Autosomal dominant congenital stationary night blindness is likely a rare disease; however, its prevalence is unknown.
Exogenous ochronosis refers to the bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due to exposure to various substances. It has been reported most commonly with topical application of hydroquinones to the skin. The discoloration may be caused by an effect on tyrosinase (an enzyme located in melanocytes, which are skin cells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria.
Summary : As a teenager, you go through many physical, mental, emotional, and social changes. The biggest change is puberty, the process of becoming sexually mature. It usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. As your body changes, you may have questions about sexual health. During this time, you start to develop your own unique personality and opinions. Some changes that you might notice include - Increased independence from your parents - More concerns about body image and clothes - More influence from peers - Greater ability to sense right and wrong All of these changes can sometimes seem overwhelming. Some sadness or moodiness can be normal. But feeling very sad, hopeless, or worthless could be warning signs of a mental health problem. If you need help, talk to your parents, school counselor, or health care provider. Centers for Disease Control and Prevention
Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abnormalities, and sometimes problems with development and learning. Less common forms are caused by a lack of other enzymes. These disorders can cause intellectual disability, seizures, problems with movement, and a blood disorder called megaloblastic anemia. Mutations in the CBS, MTHFR, MTR, and MTRR genes cause homocystinuria, and it is inherited in an autosomal recessive manner. Treatment varies depending upon the cause of the disorder.
Recovering from addiction is hard. Even with treatment, many people return to substance abuse, sometimes months or years after having stopped drug use. This is commonly referred to as relapse. As with most chronic diseases, relapse in addiction is not unusual, and signals a need to restart, adjust, or modify the treatment.
Is schizencephaly inherited? Schizencephaly is not thought to be inherited in most cases and it rarely affects more than one person in a family. A few cases of familial schizencephaly have been linked to changes (mutations) in the EMX2 gene.
Addison disease affects approximately 11 to 14 in 100,000 people of European descent. The autoimmune form of the disorder is the most common form in developed countries, accounting for up to 90 percent of cases.
Your spinal cord is a bundle of nerves that runs down the middle of your back. It carries signals back and forth between your body and your brain. It is protected by your vertebrae, which are the bone disks that make up your spine. If you have an accident that damages the vertebrae or other parts of the spine, this can also injure the spinal cord. Other spinal cord problems include - Tumors - Infections such as meningitis and polio - Inflammatory diseases - Autoimmune diseases - Degenerative diseases such as amyotrophic lateral sclerosis and spinal muscular atrophy Symptoms vary but might include pain, numbness, loss of sensation and muscle weakness. These symptoms can occur around the spinal cord, and also in other areas such as your arms and legs. Treatments often include medicines and surgery.
Hemochromatosis type 1 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis type 1 is the most common cause of hereditary hemochromatosis. Symptoms of this condition typically begin in adulthood. Early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. Hemochromatosis type 1 is inherited in an autosomal recessive manner and is caused by mutations in the HFE gene. Hemochromatosis may be aquired or inherited. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about other types of hereditary hemochromatosis click on the disease names below: Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 There is also a neonatal form of hemochromatosis: Neonatal hemochromatosis
Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Additional signs and symptoms of Tangier disease include a slightly elevated amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve function (neuropathy); and enlarged, orange-colored tonsils. Affected individuals often develop atherosclerosis, which is an accumulation of fatty deposits and scar-like tissue in the lining of the arteries. Other features of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the clear covering of the eye (corneal clouding), and type 2 diabetes.
Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, weak muscle tone in infancy, and distinctive facial features. While cri du chat syndrome is a genetic condition, most cases are not inherited.
Supportive therapy is important in CHHF. This includes: - maintenance of hydration - management of shock - sedation - pain relief - usual precautions for patients with bleeding disorders - transfusions (when necessary) Use of convalescent plasma therapy for treatment of AHF reduces mortality significantly and anecdotal evidence shows that the antiviral drug ribavirin may also hold promise for treating AHF. Ribavirin has also been considered for preventing development of disease in people exposed to other arenaviruses. Recovery The precise mortality of CHHF is unknown and the only described case was fatal. Patients who have suffered from other arenaviruses may continue to excrete virus in urine or semen for weeks after recovery. For this reason, these fluids should be monitored for infectivity, since convalescent patients have the potential to infect others (particularly sexual partners) via these fluids.
Lennox-Gastaut syndrome affects an estimated 1 in 50,000 to 1 in 100,000 children. This condition accounts for about 4 percent of all cases of childhood epilepsy. For unknown reasons, it appears to be more common in males than in females.
Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight. Many women with fibroids have no symptoms. If you do have symptoms, they may include - Heavy or painful periods or bleeding between periods - Feeling "full" in the lower abdomen - Urinating often - Pain during sex - Lower back pain - Reproductive problems, such as infertility, multiple miscarriages or early labor Your health care provider may find fibroids during a gynecological exam or by using imaging tests. Treatment includes drugs that can slow or stop their growth, or surgery. If you have no symptoms, you may not even need treatment. Many women with fibroids can get pregnant naturally. For those who cannot, infertility treatments may help. NIH: National Institute of Child Health and Human Development
Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss. The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.
Treatment depends on a number of factors, including the type of leukemia, the patient's age and general health, where leukemia cells have collected in the body, and whether the leukemia has been treated before. Certain features of the leukemia cells and the patient's symptoms also may determine treatment options.
Mutations in the RYR1 gene cause central core disease. The RYR1 gene provides instructions for making a protein called ryanodine receptor 1. This protein plays an essential role in skeletal muscles. For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of charged atoms (ions) into muscle cells. The ryanodine receptor 1 protein forms a channel that releases calcium ions stored within muscle cells. The resulting increase in calcium ion concentration inside muscle cells stimulates muscle fibers to contract, allowing the body to move. Mutations in the RYR1 gene change the structure of ryanodine receptor 1, allowing calcium ions to "leak" through the abnormal channel or impairing the channel's ability to release stored calcium ions at the correct time. This disruption in calcium ion transport prevents muscles from contracting normally, leading to the muscle weakness characteristic of central core disease.
Most of the time, medicines make our lives better. They reduce aches and pains, fight infections, and control problems such as high blood pressure or diabetes. But medicines can also cause unwanted reactions. One problem is interactions, which may occur between - Two drugs, such as aspirin and blood thinners - Drugs and food, such as statins and grapefruit - Drugs and supplements, such as gingko and blood thinners - Drugs and diseases, such as aspirin and peptic ulcers Interactions can change the actions of one or both drugs. The drugs might not work, or you could get side effects. Side effects are unwanted effects caused by the drugs. Most are mild, such as a stomach aches or drowsiness, and go away after you stop taking the drug. Others can be more serious. Drug allergies are another type of reaction. They can be mild or life-threatening. Skin reactions, such as hives and rashes, are the most common type. Anaphylaxis, a serious allergic reaction, is more rare. When you start a new prescription or over-the-counter medication, make sure you understand how to take it correctly. Know which other medications and foods you need to avoid. Ask your health care provider or pharmacist if you have questions.
How might jejunal atresia be treated? Jejunal atresia is typically treated with surgery. Total parenteral nutrition (TPN) is generally necessary for a period of time following surgery until normal meals are tolerated.
Erectile dysfunction* is when you cannot get or keep an erection firm enough to have sex. You may have ED if you - can get an erection sometimes, though not every time - can get an erection, yet it does not last long enough for sex - are unable to get an erection at all ED is sometimes called impotence; however, doctors use this term less often now. *See the Pronunciation Guide for tips on how to say the words in bold type.
The uterus, or womb, is the place where a baby grows when a woman is pregnant. The first sign of a problem with the uterus may be bleeding between periods or after sex. Causes can include hormones, thyroid problems, fibroids, polyps, cancer, infection, or pregnancy. Treatment depends on the cause. Sometimes birth control pills treat hormonal imbalances. If a thyroid problem is the cause, treating it may also stop the bleeding. If you have cancer or hyperplasia, an overgrowth of normal cells in the uterus, you may need surgery. With two other uterine problems, tissue that normally lines the uterus grows where it is not supposed to. In endometriosis, it grows outside the uterus. In adenomyosis, it grows in the uterus's outside walls. Pain medicine may help. Other treatments include hormones and surgery.
Blood pressure is the force of blood pushing against the walls of the blood vessels as the heart pumps blood. If your blood pressure rises and stays high over time, its called high blood pressure. High blood pressure is dangerous because it makes the heart work too hard, and the high force of the blood flow can harm arteries and organs such as the heart, kidneys, brain, and eyes.
LBSL is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In this condition, each copy of the gene carries a different mutation (compound heterozygous mutations). An affected individual never has the same mutation in both copies of the gene (a homozygous mutation). 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 florid cemento-osseous dysplasia diagnosed? Diagnosis of cemento-osseous dysplasia relies on the radiographic findings of the lesions as well as the clinical signs and symptoms. Careful assessment and examination must be made to differentiate cemento-osseous dysplasia from other lesions with similar appearance, namely Paget's disease, chronic diffuse sclerosing osteomyelitis, fibrous dysplasia, osteosarcoma, periapical cemental dysplasia.
What causes periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA)? The cause of PFAPA is unknown, although viral or autoimmune causes have been suggested.
What causes Nicolaides-Baraitser syndrome? Nicolaides-Baraitser syndrome (NCBRS) is caused by mutations in the SMARCA2 gene, which is located on the small arm of chromosome 9. All mutations that have been identified in affected people have been either missense mutations or in-frame deletions. There may be some correlations between specific types of mutations and some of the features that result (called genotype-phenotype correlations), but more studies are needed to draw definitive conclusions.
These resources address the diagnosis or management of Barth syndrome: - Cleveland Clinic: Dilated Cardiomyopathy - Gene Review: Gene Review: Barth Syndrome - Genetic Testing Registry: 3-Methylglutaconic aciduria type 2 - Johns Hopkins Children's Center: Neutrophil Disorders - MedlinePlus Encyclopedia: Neutropenia--Infants These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. However, having a close relative (such as a parent or sibling) with adolescent idiopathic scoliosis increases a child's risk of developing the condition.
Pallister-Killian mosaic syndrome is not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Affected individuals have no history of the disorder in their families. An error in cell division called nondisjunction likely results in a reproductive cell containing an isochromosome 12p. If this atypical reproductive cell contributes to the genetic makeup of a child, the child will have two normal copies of chromosome 12 along with an isochromosome 12p. As cells divide during early development, some cells lose the isochromosome 12p, while other cells retain the abnormal chromosome. This situation is called mosaicism. Almost all cases of Pallister-Killian mosaic syndrome are caused by mosaicism for an isochromosome 12p. If all of the body's cells contained the isochromosome, the resulting syndrome would probably not be compatible with life.
What are the signs and symptoms of Papillary renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary renal cell carcinoma. 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 - Incomplete penetrance - Papillary renal cell carcinoma - 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.
Having hepatitis or cirrhosis can affect the risk of adult primary liver cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. The following are risk factors for adult primary liver cancer: - Having hepatitis B or hepatitis C. Having both hepatitis B and hepatitis C increases the risk even more. - Having cirrhosis, which can be caused by: - hepatitis (especially hepatitis C); or - drinking large amounts of alcohol for many years or being an alcoholic. - Having metabolic syndrome, a set of conditions that occur together, including extra fat around the abdomen, high blood sugar, high blood pressure, high levels of triglycerides and low levels of high-density lipoproteins in the blood. - Having liver injury that is long-lasting, especially if it leads to cirrhosis. - Having hemochromatosis, a condition in which the body takes up and stores more iron than it needs. The extra iron is stored in the liver, heart, and pancreas - Eating foods tainted with aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts, that have not been stored properly).
These resources address the diagnosis or management of ACD/MPV: - Genetic Testing Registry: Alveolar capillary dysplasia with misalignment of pulmonary veins - MedlinePlus Encyclopedia: Alveolar Abnormalities 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 diabetic mastopathy diagnosed? The diagnosis of diabetic mastopathy should be considered in patients with long-standing insulin-dependent diabetes and a firm, mobile breast mass. Initial imaging may include mammography and ultrasound. While these methods can help to further differentiate the mass, they cannot provide a specific diagnosis of diabetic mastopathy with confident exclusion of malignancy. Magnetic resonance imaging (MRI) is unlikely to add additional information. Current practice dictates that a core biopsy (utilizing a needle to remove a small cylinder of tissue) be performed for a definitive diagnosis. Biopsy results demonstrate lymphocytic lobulitis and ductitis, glandular atrophy (wasting), perivascular inflammation (vasculitis), dense keloid fibrosis (scarring), and epithelioid fibroblasts.
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.
With effective treatment, children with AS can learn to cope with their disabilities, but they may still find social situations and personal relationships challenging. Many adults with AS are able to work successfully in mainstream jobs, although they may continue to need encouragement and moral support to maintain an independent life.
These resources address the diagnosis or management of trichothiodystrophy: - Genetic Testing Registry: BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome - Genetic Testing Registry: Photosensitive trichothiodystrophy - Genetic Testing Registry: Trichothiodystrophy, nonphotosensitive 1 - The Merck Manual Home Edition for Patients and Caregivers: Photosensitivity Reactions - The Merck Manual for Healthcare Professionals: Ichthyosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The small intestine is the tube-shaped organ between the stomach and large intestine. Most food digestion and nutrient absorption take place in the small intestine. The small intestine is about 20 feet long and includes the duodenum, jejunum, and ileum: duodenumthe first part of the small intestine, where iron and other minerals are absorbed jejunumthe middle section of the small intestine, where carbohydrates, proteins, fat, and most vitamins are absorbed ileumthe lower end of the small intestine, where bile acids and vitamin B12 are absorbed
The late-onset form of Fuchs endothelial dystrophy is a common condition, affecting approximately 4 percent of people over the age of 40. The early-onset variant of Fuchs endothelial dystrophy is rare, although the exact prevalence is unknown. For reasons that are unclear, women are affected with Fuchs endothelial dystrophy somewhat more frequently than men.
Chronic myelogenous leukemia is a disease in which too many white blood cells are made in the bone marrow. See the PDQ summary on Chronic Myelogenous Leukemia Treatment for information on diagnosis, staging, and treatment.
Ornithine transcarbamylase deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. 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), mutations in both copies of the gene will cause the disorder. Some females with only one altered copy of the OTC gene also show signs and symptoms of ornithine transcarbamylase deficiency.
These resources address the diagnosis or management of atelosteogenesis type 3: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Atelosteogenesis type 3 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
Postural orthostatic tachycardia syndrome (POTS) is a rare condition that is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again. In people with POTS, these symptoms are also accompanied by a rapid increase in heartbeat. Although POTS can affect men and women of all ages, most cases are diagnosed in women between the ages of 15 and 50. The exact underlying cause of POTS is currently unknown. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period. Treatment aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition.
How is neonatal progeroid syndrome diagnosed? A diagnosis of neonatal progeroid syndrome is made based on the presence of characteristic signs and symptoms. Rarely, a diagnosis may be suspected before birth if concerning features are viewed on ultrasound; however, most cases are diagnosed shortly after birth.
Dry AMD has three stages -- early AMD, intermediate AMD, and advanced dry AMD. All of these may occur in one or both eyes. People with early dry AMD have either several small drusen or a few medium-sized drusen. Drusen are yellow deposits under the retina which often are found in people over age 50. People with early AMD have no symptoms and no vision loss. People with intermediate dry AMD have either many medium-sized drusen or one or more large drusen. Some people see a blurred spot in the center of their vision. More light may be needed for reading and other tasks. In addition to drusen, people with advanced dry AMD have a breakdown of light-sensitive cells and supporting tissue in the macula. This breakdown can cause a blurred spot in the center of your vision. Over time, the blurred spot may get bigger and darker, taking more of your central vision. You may have difficulty reading or recognizing faces until they are very close to you.
As blood pressure rises, the risk of damage to the arteries, heart, brain, and kidneys increases. Controlling blood pressure through healthy food choices and regular physical activity can delay or prevent the development of CKD. Blood pressure is expressed as two numbers. The top number represents the force of the blood pushing against the artery walls when the heart beats. The lower number represents the pressure between beats. Normal blood pressure is below 120/80 millimeters of mercury (mmHg). People with CKD should try to keep their blood pressure below 140/90 mmHg. Following a meal plan can help control blood pressure and protect the kidneys. The National Heart, Lung, and Blood Institute supported research that compared a typical American diet with the Dietary Approaches to Stop Hypertension (DASH) eating plan, which is lower in saturated fat, cholesterol, and total fat and emphasizes eating fruits, vegetables, and low-fat dairy foods. People who followed the DASH eating plan were able to reduce their blood pressure much more than those who ate a typical diet. The DASH eating plan also includes whole grain products, fish, poultry, and nuts. Limiting sodium, or salt, is another important feature of the plan. A dietitian can help find low-salt or salt-free alternatives to foods that are high in salt.
Complex regional pain syndrome (CRPS) is a chronic pain condition. The key symptom of CRPS is continuous, intense pain out of proportion to the severity of the injury, which gets worse rather than better over time. CRPS most often affects one of the arms, legs, hands, or feet. Often the pain spreads to include the entire arm or leg. Typical features include dramatic changes in the color and temperature of the skin over the affected limb or body part, accompanied by intense burning pain, skin sensitivity, sweating, and swelling. Doctors arent sure what causes CRPS. In some cases the sympathetic nervous system plays an important role in sustaining the pain. Another theory is that CRPS is caused by a triggering of the immune response, which leads to the characteristic inflammatory symptoms of redness, warmth, and swelling in the affected area.
The standard method for diagnosing the presence of hookworm is by identifying hookworm eggs in a stool sample using a microscope. Because eggs may be difficult to find in light infections, a concentration procedure is recommended.
How might pityriasis lichenoides chronica be treated? Pityriasis lichenoides chronica may not always respond to treatment and relapses often occur when treatment is discontinued. If the rash is not causing symptoms, treatment may not be necessary. In cases where treatment is necessary, there are several different therapies available. First-line therapies may include: Sun exposure Topical steroids Topical immunomodulators such as tacrolimus or pimecrolimus Oral antibiotics such as erythromycin and tetracycline Second-line therapies may include: Phototherapy artificial ultraviolet radiation treatment with UVB or PUVA Third-line therapies may include: Systemic steroids Methotrexate Acitretin Dapsone Ciclosporin For more resistant and severe disease, a combination of the above may be used PubMed, a searchable database of medical literature, lists several journal articles that discuss treatment of pityriasis lichenoides chronica. Click on the link to view abstracts of articles related to this topic.
AMACR deficiency is caused by mutations in the AMACR gene. This gene provides instructions for making an enzyme called alpha-methylacyl-CoA racemase (AMACR). The AMACR enzyme is found in the energy-producing centers in cells (mitochondria) and in cell structures called peroxisomes. Peroxisomes contain a variety of enzymes that break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production (synthesis) of fats (lipids) used in digestion and in the nervous system. In peroxisomes, the AMACR enzyme plays a role in the breakdown of a fatty acid called pristanic acid, which comes from meat and dairy foods in the diet. In mitochondria, AMACR is thought to help further break down the molecules derived from pristanic acid. Most individuals with AMACR deficiency have an AMACR gene mutation that results in a lack (deficiency) of functional enzyme. The enzyme deficiency leads to accumulation of pristanic acid in the blood. However, it is unclear how this accumulation is related to the specific signs and symptoms of AMACR deficiency.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to GN 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 GN.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country. Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder. Additional research is focused on developing animal models of the disorder to test potential treatments and therapies.
Summary : Dietary supplements are vitamins, minerals, herbs, and many other products. They can come as pills, capsules, powders, drinks, and energy bars. Supplements do not have to go through the testing that drugs do. Some supplements can play an important role in health. For example, calcium and vitamin D are important for keeping bones strong. Pregnant women can take the vitamin folic acid to prevent certain birth defects in their babies. To take a supplement as safely as possible - Tell your health care provider about any dietary supplements you use - Do not take a bigger dose than the label recommends - Check with your health care provider about the supplements you take if you are going to have any type of surgery - Read trustworthy information about the supplement NIH: National Institutes of Health Office of Dietary Supplements
Key Points - Penile cancer is a disease in which malignant (cancer) cells form in the tissues of the penis. - Human papillomavirus infection may increase the risk of developing penile cancer. - Signs of penile cancer include sores, discharge, and bleeding. - Tests that examine the penis are used to detect (find) and diagnose penile cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. Penile cancer is a disease in which malignant (cancer) cells form in the tissues of the penis. The penis is a rod-shaped male reproductive organ that passes sperm and urine from the body. It contains two types of erectile tissue (spongy tissue with blood vessels that fill with blood to make an erection): - Corpora cavernosa: The two columns of erectile tissue that form most of the penis. - Corpus spongiosum: The single column of erectile tissue that forms a small portion of the penis. The corpus spongiosum surrounds the urethra (the tube through which urine and sperm pass from the body). The erectile tissue is wrapped in connective tissue and covered with skin. The glans (head of the penis) is covered with loose skin called the foreskin.
Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort. The first episode of illness in familial Mediterranean fever usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity. The length of time between attacks is also variable and can range from days to years. During these periods, affected individuals usually have no signs or symptoms related to the condition. However, without treatment to help prevent attacks and complications, a buildup of protein deposits (amyloidosis) in the body's organs and tissues may occur, especially in the kidneys, which can lead to kidney failure.
What are the symptoms of Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiae, septic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. Patients often experience prodromic, nonspecific symptoms, including malaise, headache, weakness, dizziness, cough, arthralgia (joint pain), and myalgia (muscle pain). A characteristic skin rash with a typical evolution occurs in approximately 75% of patients with Waterhouse-Friderichsen syndrome. In its early stages, the rash consists of small, pink macules or papules. These are rapidly followed by petechial lesions, which gradually transform into large, purpuric, coalescent plaques in late stages of the disease.
What are the signs and symptoms of Porokeratosis, disseminated superficial actinic 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 1. 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) Nail dystrophy 5% Autosomal dominant inheritance - Porokeratosis - 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.
Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. Other features of this syndrome include glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. The gene mutation is not inherited, but occurs by chance in cells of the developing embryo.
- An ectopic kidney is a birth defect in which a kidney is located below, above, or on the opposite side of its usual position. - Factors that may lead to an ectopic kidney include - poor development of a kidney bud - a defect in the kidney tissue responsible for prompting the kidney to move to its usual position - genetic abnormalities - the mother being sick or being exposed to an agent, such as a drug or chemical, that causes birth defects - An ectopic kidney may not cause any symptoms and may function normally, even though it is not in its usual position. - Possible complications of an ectopic kidney include problems with urine drainage from that kidney. Abnormal urine flow and the placement of the ectopic kidney can lead to various problems such as infection, stones, kidney damage, and injury from trauma. - No treatment for an ectopic kidney is needed if urinary function is normal and no blockage of the urinary tract is present. Surgery or other treatment may be needed if there is an obstruction, reflux, or extensive damage to the kidney.
Summary : A Cesarean section (C-section) is surgery to deliver a baby. The baby is taken out through the mother's abdomen. In the United States, about one in four women have their babies this way. Most C-sections are done when unexpected problems happen during delivery. These include - Health problems in the mother - The position of the baby - Not enough room for the baby to go through the vagina - Signs of distress in the baby C-sections are also more common among women carrying more than one baby. The surgery is relatively safe for mother and baby. Still, it is major surgery and carries risks. It also takes longer to recover from a C-section than from vaginal birth. After healing, the incision may leave a weak spot in the wall of the uterus. This could cause problems with an attempted vaginal birth later. However, more than half of women who have a C-section can give vaginal birth later.
These resources address the diagnosis or management of hypercholesterolemia: - Gene Review: Gene Review: Familial Hypercholesterolemia - GeneFacts: Familial Hypercholesterolemia: Diagnosis - GeneFacts: Familial Hypercholesterolemia: Management - Genetic Testing Registry: Familial hypercholesterolemia - Genetic Testing Registry: Hypercholesterolemia, autosomal dominant, 3 - Genetic Testing Registry: Hypercholesterolemia, autosomal dominant, type B - Genetic Testing Registry: Hypercholesterolemia, autosomal recessive - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Familial hypercholesterolemia - MedlinePlus Encyclopedia: High blood cholesterol and triglycerides - MedlinePlus Encyclopedia: Xanthoma 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
FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals.
Vaginal cancer is a rare type of cancer. It is more common in women 60 and older. You are also more likely to get it if you have had a human papillomavirus (HPV) infection or if your mother took diethylstilbestrol (DES) when she was pregnant. Doctors prescribed DES in the 1950's to prevent miscarriages. You are also at higher risk if you have had abnormal cells in the vagina, cervix, or uterus. It often doesn't have early symptoms. However, see your doctor if you notice - Bleeding that is not your period - A vaginal lump - Pelvic pain A Pap test can find abnormal cells that may be cancer. Vaginal cancer can often be cured in its early stages. Treatment might include surgery, radiation therapy, and chemotherapy. NIH: National Cancer Institute
Each of your feet has 26 bones, 33 joints, and more than 100 tendons, muscles, and ligaments. No wonder a lot of things can go wrong. Here are a few common problems: - Bunions - hard, painful bumps on the big toe joint - Corns and calluses - thickened skin from friction or pressure - Plantar warts - warts on the soles of your feet - Fallen arches - also called flat feet Ill-fitting shoes often cause these problems. Aging and being overweight also increase your chances of having foot problems.
This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation.
These resources address the diagnosis or management of cri-du-chat syndrome: - Cri du Chat Syndrome Support Group (UK): Diagnosis - Cri du Chat Syndrome Support Group (UK): Therapies - Genetic Testing Registry: 5p partial monosomy syndrome - MedlinePlus Encyclopedia: Cri du Chat 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
How might neurofibromatosis type 1 be treated? The treatment of neurofibromatosis type 1 (NF1) is based on the signs and symptoms present in each person. There is currently no way to prevent or stop the growth of the tumors associated with NF1. Neurofibromas located on or just below the skin that are disfiguring or irritating may be surgically removed. Malignant peripheral nerve sheath tumors are generally treated with complete surgical excision (when possible) although some cases may require the addition of chemotherapy and/or radiation therapy. Most optic gliomas associated with NF1 do not cause any symptoms and therefore, do not require treatment; however, optic gliomas that threaten vision may be treated with surgery and/or chemotherapy. Surgery may also be recommended to correct some of the bone malformations (such as scoliosis) associated with NF1. GeneReview's Web site offers more specific information regarding the treatment and management of NF1. Please click on the link to access this resource.
These resources address the diagnosis or management of spondylocostal dysostosis: - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive - Genetic Testing Registry: Jarcho-Levin syndrome - Genetic Testing Registry: Spondylocostal dysostosis 1 - Genetic Testing Registry: Spondylocostal dysostosis 2 - Genetic Testing Registry: Spondylocostal dysostosis 3 - Genetic Testing Registry: Spondylocostal dysostosis 4, autosomal recessive - KidsHealth: X-Ray Exam (Scoliosis) - MedlinePlus Encyclopedia: Scoliosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The NINDS funds research to better understand the genetic, molecular, and cellular mechanisms that underlie the TSE diseases. Findings from this research will lead to ways to diagnose, treat, prevent, and ultimately cure these diseases.
Vulvar cancer is a rare type of cancer. It forms in a woman's external genitals, called the vulva. The cancer usually grows slowly over several years. First, precancerous cells grow on vulvar skin. This is called vulvar intraepithelial neoplasia (VIN), or dysplasia. Not all VIN cases turn into cancer, but it is best to treat it early. Often, vulvar cancer doesn't cause symptoms at first. However, see your doctor for testing if you notice - A lump in the vulva - Vulvar itching or tenderness - Bleeding that is not your period - Changes in the vulvar skin, such as color changes or growths that look like a wart or ulcer You are at greater risk if you've had a human papillomavirus (HPV) infection or have a history of genital warts. Your health care provider diagnoses vulvar cancer with a physica1 exam and a biopsy. Treatment varies, depending on your overall health and how advanced the cancer is. It might include surgery, radiation therapy, chemotherapy, or biologic therapy. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute