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Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis- an area of the brain that controls balance and coordination -- as well as a malformed brain stem (molar tooth sign). The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), abnormal eye movements, impaired intellectual development, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur. Many cases of Joubert syndrome appear to be sporadic (not inherited). In most other cases, Joubert syndrome is inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in at least 10 different genes, including NPHP1, AHI1, and CEP290.
Williams syndrome affects an estimated 1 in 7,500 to 10,000 people.
Summary : Medicines cure infectious diseases, prevent problems from chronic diseases, and ease pain. But medicines can also cause harmful reactions if not used correctly. Errors can happen in the hospital, at the doctor's office, at the pharmacy, or at home. You can help prevent errors by - Knowing your medicines. Keep a list of the names of your medicines, how much you take, and when you take them. Include over-the-counter medicines, vitamins, and supplements and herbs. Take this list to all your doctor visits. - Reading medicine labels and following the directions. Don't take medications prescribed for someone else. - Taking extra caution when giving medicines to children. - Asking questions. If you don't know the answers to these questions, ask your doctor or pharmacist. - Why am I taking this medicine? - What are the common problems to watch out for? - What should I do if they occur? - When should I stop this medicine? - Can I take this medicine with the other medicines on my list? Centers for Disease Control and Prevention
Asthma affects people of all ages, but it most often starts during childhood. In the United States, more than 22 million people are known to have asthma. Nearly 6 million of these people are children. Young children who often wheeze and have respiratory infectionsas well as certain other risk factorsare at highest risk of developing asthma that continues beyond 6 years of age. The other risk factors include having allergies, eczema (an allergic skin condition), or parents who have asthma. Among children, more boys have asthma than girls. But among adults, more women have the disease than men. It's not clear whether or how sex and sex hormones play a role in causing asthma. Most, but not all, people who have asthma have allergies. Some people develop asthma because of contact with certain chemical irritants or industrial dusts in the workplace. This type of asthma is called occupational asthma.
Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body. There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders. Symptoms often start gradually, and then get worse. They include - Numbness - Pain - Burning or tingling - Muscle weakness - Sensitivity to touch Treatment aims to treat any underlying problem, reduce pain and control symptoms. NIH: National Institute of Neurological Disorders and Stroke
Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with Denys-Drash syndrome have gonadal dysgenesis, a condition in which the external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear to be completely female. The testes are also undescended, meaning that they remain in the pelvis, abdomen, or groin. Affected females usually have normal genitalia. For this reason, females with this condition may be diagnosed with isolated nephrotic syndrome. Denys-Drash syndrome is caused by mutations in the WT1 gene. 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. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Summary : Anabolic steroids are man-made substances related to male sex hormones. Doctors use anabolic steroids to treat some hormone problems in men, delayed puberty, and muscle loss from some diseases. Bodybuilders and athletes often use anabolic steroids to build muscles and improve athletic performance. Using them this way is not legal or safe. Abuse of anabolic steroids has been linked with many health problems. They include - Acne - Breast growth and shrinking of testicles in men - Voice deepening and growth of facial hair in women - High blood pressure - Heart problems, including heart attack - Liver disease, including cancer - Kidney damage - Aggressive behavior NIH: National Institute on Drug Abuse
Is chronic progressive external ophthalmoplegia inherited? Chronic progressive external ophthalmoplegia (CPEO) can be inherited, or it can occur sporadically (due to a new mutation in an individual with no history of the condition in the family). CPEO is considered a "mitochondrial disorder." This is because all the genetic mutations that can cause CPEO ultimately result in dysfunction of the mitochondria, which are structures in our cells that produce energy required for normal cell function. While most of our DNA is located in the cell's center (nuclear DNA), some of our DNA is located within the mitochondria (mitochondrial DNA). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual. Unlike nuclear DNA which is inherited from both the mother and the father, mitochondrial DNA is inherited from only the mother. In CPEO, the affected mitochondria (i.e., the ones carrying the mutations) are found only in the skeletal muscle cells. These mitochondrial DNA mutations are almost always sporadic (occurring by chance for the first time in the affected individual). Nuclear gene mutations that cause CPEO may be inherited in an autosomal recessive or autosomal dominant manner, depending on the gene involved. The risk for other family members to be affected depends on the genetic cause and the inheritance pattern in the family.
Cystic echinococcosis is controlled by preventing transmission of the parasite. Prevention measures include limiting the areas where dogs are allowed and preventing animals from consuming meat infected with cysts. - Prevent dogs from feeding on the carcasses of infected sheep. - Control stray dog populations. - Restrict home slaughter of sheep and other livestock. - Do not consume any food or water that may have been contaminated by fecal matter from dogs. - Wash your hands with soap and warm water after handling dogs, and before handling food. - Teach children the importance of washing hands to prevent infection. Alveolar echinococcosis can be prevented by avoiding contact with wild animals such as foxes, coyotes, and dogs and their fecal matter and by limiting the interactions between dogs and rodent populations. - Do not allow dogs to feed on rodents and other wild animals. - Avoid contact with wild animals such as foxes, coyotes and stray dogs. - Do not encourage wild animals to come close to your home or keep them as pets. - Wash your hands with soap and warm water after handling dogs or cats, and before handling food. - Teach children the importance of washing hands to prevent infection. More on: Handwashing
What are the signs and symptoms of Diamond-Blackfan anemia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Diamond-Blackfan anemia 3. 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 - Erythrocyte macrocytosis - Macrocytic anemia - Persistence of hemoglobin F - Reticulocytopenia - 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.
Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing. Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern. Type 1B may be caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.
These resources address the diagnosis or management of potassium-aggravated myotonia: - Genetic Testing Registry: Potassium aggravated myotonia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of lymphedema-distichiasis syndrome: - Gene Review: Gene Review: Lymphedema-Distichiasis Syndrome - Genetic Testing Registry: Distichiasis-lymphedema syndrome - MedlinePlus Encyclopedia: Lymph System 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
- Proteinuria is a condition in which urine contains a detectable amount of protein. - Proteinuria is a sign of chronic kidney disease (CKD). - Groups at risk for proteinuria include African Americans, American Indians, Hispanics/Latinos, Pacific Islander Americans, older people, overweight people, people with diabetes or hypertension, and people who have a family history of kidney disease. - Proteinuria may have no signs or symptoms. Laboratory testing is the only way to find out whether protein is in a person's urine. - Several health organizations recommend regular checks for proteinuria so kidney disease can be detected and treated before it progresses. - A person with diabetes, hypertension, or both should work to control blood glucose and blood pressure.
Alagille syndrome is a genetic condition that results in various symptoms in different parts of the body, including the liver. A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. The liver is the organ in the abdomenthe area between the chest and hipsthat makes blood proteins and bile, stores energy and nutrients, fights infection, and removes harmful chemicals from the blood. Bile ducts are tubes that carry bile from the liver cells to the gallbladder for storage and to the small intestine for use in digestion. Bile is fluid made by the liver that carries toxins and waste products out of the body and helps the body digest fats and the fat-soluble vitamins A, D, E, and K. In people with Alagille syndrome, the decreased number of bile ducts causes bile to build up in the liver, a condition also called cholestasis, leading to liver damage and liver disease.
Chronic kidney disease causes mineral and bone disorder because the kidneys do not properly balance the mineral levels in the body. The kidneys - stop activating calcitriol. The low levels of calcitriol in the body create an imbalance of calcium in the blood. - do not remove the phosphorus in the blood properly, so phosphorus levels rise in the blood. The extra phosphorus pulls calcium out of the bones, causing them to weaken. Another factor contributes to the cause of mineral and bone disorder. When the kidneys are damaged, the parathyroid gland releases parathyroid hormone into the blood to pull calcium from the bones and raise blood calcium levels. This response restores the balance of phosphorus and calcium; however, it also starves the bones of much-needed calcium.
CHMP2B-related frontotemporal dementia has been reported in one large family in Denmark and a few unrelated individuals from other countries. This disease appears to be a rare form of frontotemporal dementia.
In addition to proteinuria, hyperlipidemia, edema, and hypoalbumina, people with nephrotic syndrome may experience - weight gain - fatigue - foamy urine - loss of appetite
Many medications are used to manage heart failure. They include diuretics, ACE inhibitors, beta blockers and digoxin. Diuretics are used to reduce fluid buildup. ACE inhibitors work to improve heart failure in many ways, including lowering blood pressure. Beta blockers can also improve heart failure in many ways, including slowing the heart rate. Digoxin affects the hormones that worsen heart failure.
N-acetylglutamate synthase deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some people have a less severe form of the deficiency with earliest symptoms manifesting later in life, particularly following high-protein meals, illness, or other stress. Signs and symptoms may include sudden vomiting, lack of coordination, confusion, and coma. N-acetylglutamate synthase deficiency is caused by mutations in the NAGS gene and is inherited in an autosomal recessive fashion.
How might nevoid basal cell carcinoma syndrome be treated? The features of nevoid basal cell carcinoma syndrome (NBCCS) should be evaluated and treated by specialists who are experienced with the condition (such as oral surgeons, dermatologists, plastic surgeons, and medical geneticists). If a medulloblastoma is detected early enough, it may be treated by surgery and chemotherapy. Jaw keratocysts usually need to be surgically removed. Early treatment of basal cell carcinomas is necessary to prevent long-term cosmetic problems, particularly on the face. Surgical removal is often supplemented by other treatments such as cryotherapy, laser treatment, and/or photodynamic therapy. Radiation therapy is not recommended because it can provoke the development of more tumors. Some people may need long term treatment with oral retinoids such as isotretinoin or acitretin. Cardiac fibromas may not cause symptoms, but they should be monitored by a cardiologist. If ovarian fibromas need surgical treatment, it is typically recommended that ovarian tissue is preserved even though it involves a risk of recurrence.
Major Signs and Symptoms One of the main symptoms during the early part of Kawasaki disease, called the acute phase, is fever. The fever lasts longer than 5 days. It remains high even after treatment with standard childhood fever medicines. Other classic signs of the disease are: Swollen lymph nodes in the neck A rash on the mid-section of the body and in the genital area Red, dry, cracked lips and a red, swollen tongue Red, swollen palms of the hands and soles of the feet Redness of the eyes Other Signs and Symptoms During the acute phase, your child also may be irritable and have a sore throat, joint pain, diarrhea, vomiting, and stomach pain. Within 2 to 3 weeks of the start of symptoms, the skin on your child's fingers and toes may peel, sometimes in large sheets.
Genetic changes in one of several genes are involved in the formation of GISTs. About 80 percent of cases are associated with a mutation in the KIT gene, and about 10 percent of cases are associated with a mutation in the PDGFRA gene. Mutations in the KIT and PDGFRA genes are associated with both familial and sporadic GISTs. A small number of affected individuals have mutations in other genes. The KIT and PDGFRA genes provide instructions for making receptor proteins that are found in the cell membrane of certain cell types and stimulate signaling pathways inside the cell. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When the ligand attaches (binds), the KIT or PDGFRA receptor protein is turned on (activated), which leads to activation of a series of proteins in multiple signaling pathways. These signaling pathways control many important cellular processes, such as cell growth and division (proliferation) and survival. Mutations in the KIT and PDGFRA genes lead to proteins that no longer require ligand binding to be activated. As a result, the proteins and the signaling pathways are constantly turned on (constitutively activated), which increases the proliferation and survival of cells. When these mutations occur in ICCs or their precursors, the uncontrolled cell growth leads to GIST formation.
Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine. Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzyme valine transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes a diet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.
Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each cell of the body. Translocation trisomy 13 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. These rearrangements are called balanced translocations because there is no extra material from chromosome 13. A person with a balanced translocation involving chromosome 13 has an increased chance of passing extra material from chromosome 13 to their children.
Mutations in the MYCN gene cause Feingold syndrome. This gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervous system, digestive system, and lungs. The MYCN protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, this protein is called a transcription factor. Mutations in the MYCN gene that cause Feingold syndrome prevent one copy of the gene in each cell from producing any functional MYCN protein. As a result, only half the normal amount of this protein is available to control the activity of specific genes during embryonic development. It remains unclear how a reduced amount of the MYCN protein causes the specific features of Feingold syndrome.
Contact with livestock with tick exposure are risk factors for humans, as is contact with infected ticks, whether through crushing the infected tick with unprotected fingers or by a bite from an infected tick. Slaughtering of animals which may acutely but asymptomatically infected may also be a risk factor, as it is possible that infected animals develop a viremia without obvious clinical signs.
Generally, long-term antibiotic treatment to destroy the bacteria can relieve symptoms and cure the disease. If left untreated, the disease is progressive and fatal. Individuals with involvement of the central nervous system generally have a worse prognosis and may be left with permanent neurologic disability. Deficits may persist and relapses may still occur in individuals who receive appropriate treatment in a timely fashion. Prognosis may improve with earlier recognition, diagnosis, and treatment of the disorder.
How is hydrocephalus due to congenital stenosis of aqueduct of sylvius diagnosed? A diagnosis of hydrocephalus due to congenital stenosis of aqueduct of sylvius is typically suspected based on the presence of characteristic signs and symptoms on physical examination and/or brain imaging (i.e. CT scan, MRI scan). Identification of a change (mutation) in the L1CAM gene can be used to confirm the diagnosis.
The primary genetic cause of PVOD is mutations in the EIF2AK4 gene. Mutations in other genes may cause a small percentage of cases. Other suspected causes of PVOD include viral infection and exposure to toxic chemicals, including certain chemotherapy drugs. The protein produced from the EIF2AK4 gene helps cells respond appropriately to changes that could damage the cell. For example, when the level of protein building blocks (amino acids) in a cell falls too low, the activity of the EIF2AK4 protein helps reduce the production of other proteins, which conserves amino acids. The EIF2AK4 gene mutations involved in PVOD likely eliminate functional EIF2AK4 protein; however, it is unknown how absence of this protein's function leads to the pulmonary vessel abnormalities that underlie PVOD.
Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner.
Coffin-Siris syndrome is caused by mutations in the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Each of these genes provides instructions for making one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed. Through their ability to regulate gene activity, SWI/SNF complexes are involved in many processes, including repairing damaged DNA; copying (replicating) DNA; and controlling the growth, division, and maturation (differentiation) of cells. Although it is unclear what effect mutations in these genes have on SWI/SNF complexes, researchers suggest that the mutations result in abnormal chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts several cellular processes, which could explain the diverse signs and symptoms of Coffin-Siris syndrome.
Researchers have found mutations in a few genes that are thought to cause Dandy-Walker malformation, but these mutations account for only a small number of cases. Dandy-Walker malformation has also been associated with many chromosomal abnormalities. This condition can be a feature of some conditions in which there is an extra copy of one chromosome in each cell (trisomy). Dandy-Walker malformation most often occurs in people with trisomy 18 (an extra copy of chromosome 18), but can also occur in people with trisomy 13, trisomy 21, or trisomy 9. This condition can also be associated with missing (deletions) or copied (duplications) pieces of certain chromosomes. Dandy-Walker malformation can also be a feature of genetic syndromes that are caused by mutations in specific genes. However, the brain malformations associated with Dandy-Walker malformation often occur as an isolated feature (not associated with other health problems), and in these cases the cause is frequently unknown. Research suggests that Dandy-Walker malformation could be caused by environmental factors that affect early development before birth. For example, exposure of the fetus to substances that cause birth defects (teratogens) may be involved in the development of this condition. In addition, a mother with diabetes is more likely than a healthy mother to have a child with Dandy-Walker malformation.
Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing a paraganglioma or pheochromocytoma. People with mutations in the gene inherit an increased risk of this condition, not the condition itself. Not all people with this condition have a mutation in the gene, and not all people with a gene mutation will develop the disorder. Most cases of nonsyndromic paraganglioma and pheochromocytoma are considered sporadic, which means the tumors occur in people with no history of the disorder in their family.
Mutations in the DSPP gene have been identified in people with dentinogenesis imperfecta type II and type III. Mutations in this gene are also responsible for dentin dysplasia type II. Dentinogenesis imperfecta type I occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes (most often the COL1A1 or COL1A2 genes). The DSPP gene provides instructions for making two proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. DSPP gene mutations alter the proteins made from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break. It is unclear whether DSPP gene mutations are related to the hearing loss found in a few older individuals with dentinogenesis imperfecta type II.
You might be able to prevent repeat episodes of some types of anemia, especially those caused by lack of iron or vitamins. Dietary changes or supplements can prevent these types of anemia from occurring again. Treating anemia's underlying cause may prevent the condition (or prevent repeat episodes). For example, if medicine is causing your anemia, your doctor may prescribe another type of medicine. To prevent anemia from getting worse, tell your doctor about all of your signs and symptoms. Talk with your doctor about the tests you may need and follow your treatment plan. You can't prevent some types of inherited anemia, such as sickle cell anemia. If you have an inherited anemia, talk with your doctor about treatment and ongoing care.
What causes dentatorubral-pallidoluysian atrophy (DRPLA)? DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. The ATN1 mutation that causes DRPLA involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row on the gene. Normally, this CAG segment is repeated 6 to 35 times within the ATN1 gene. In people with DRPLA, the CAG segment is repeated at least 48 times (and sometimes much more). The abnormally long CAG trinucleotide repeat changes the structure of the atrophin 1 protein, which then accumulates in neurons and interferes with normal cell functions. The dysfunction and eventual death of these neurons lead to the signs and symptoms associated with DRPLA.
Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Spinal and bulbar muscular atrophy mainly affects males and is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. Muscle wasting in the arms and legs results in cramping; leg muscle weakness can also lead to difficulty walking and a tendency to fall. Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Additionally, muscle twitches (fasciculations) are common. Some males with the disorder experience unusual breast development (gynecomastia) and may be unable to father a child (infertile).
The signs and symptoms of Peyronies disease may include - hard lumps on one or more sides of the penis - pain during sexual intercourse or during an erection - a curve in the penis either with or without an erection - narrowing or shortening of the penis - ED Symptoms of Peyronies disease range from mild to severe. Symptoms may develop slowly or appear quickly. In many cases, the pain decreases over time, although the curve in the penis may remain. In milder cases, symptoms may go away without causing a permanent curve.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health conduct research related to DLB in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on searching for the genetic roots of DLB, exploring the molecular mechanisms of alpha-synuclein accumulation, and discovering how Lewy bodies cause the particular symptoms of DLB and the other synucleinopathies. The goal of NINDS research is to find better ways to prevent, treat, and ultimately cure disorders such as DLB.
What are the signs and symptoms of Synovial chondromatosis, familial with dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Synovial chondromatosis, familial with dwarfism. 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) Arthralgia - Autosomal dominant inheritance - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes cutaneous mastocytosis? Most cases of cutaneous mastocytosis are caused by changes (mutations) in the KIT gene. This gene encodes a protein that helps control many important cellular processes such as cell growth and division; survival; and movement. This protein is also important for the development of certain types of cells, including mast cells (immune cells that are important for the inflammatory response). Certain mutations in the KIT gene can leads to an overproduction of mast cells. In cutaneous mastocytosis, excess mast cells accumulate in the skin, leading to the many signs and symptoms of the condition.
Doctors are not sure what causes diverticular disease. Many think a diet low in fiber is the main cause. Fiber is a part of food that your body cannot digest. It is found in many fruits and vegetables. Fiber stays in the colon and absorbs water, which makes bowel movements easier to pass. Diets low in fiber may cause constipation, which occurs when stools are hard and difficult to pass. Constipation causes your muscles to strain when you pass stool. Straining may cause diverticula to form in the colon. If stool or bacteria get caught in the pouches, diverticulitis can occur.
These resources address the diagnosis or management of spondyloperipheral dysplasia: - Genetic Testing Registry: Spondyloperipheral dysplasia - MedlinePlus Encyclopedia: Nearsightedness 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
Are pilocytic astrocytomas inherited? Pilocytic astrocytomas are typically sporadic, occurring by chance in individuals with no history of the condition in the family. Sporadic abnormalities are not inherited from a parent and are not likely to recur in a family. Familial cases of isolated astrocytomas are very rare. Although most individuals with a pilocytic astrocytoma do not have an underlying genetic condition, astrocytomas have been associated with a few "predisposing" genetic syndromes. Individuals with these syndromes will not necessarily develop one; these tumors just occur with a greater frequency in affected individuals. Genetic syndromes in which astrocytomas have been reported to occur include: neurofibromatosis type 1 Turcot syndrome Li-Fraumeni syndrome tuberous sclerosis All of these genetic conditions follow an autosomal dominant pattern of inheritance. Individuals who are interested in learning about personal genetic risks for these conditions and/or genetic testing options for themselves or family members should speak with a genetics professional.
This condition is inherited in an X-linked pattern. 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 in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males or may cause no symptoms in females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Acute promyelocytic leukemia is not inherited but arises from a translocation in the body's cells that occurs after conception.
Regular health exams and tests can help find problems before they start. They also can help find problems early, when your chances for treatment are better. As a woman, you need some special exams and screenings. During your checkup, your health care provider will usually do: - A pelvic exam - an exam to check if internal female organs are normal by feeling their shape and size. - A Pap test - a test to check for cancer of the cervix, the opening to a woman's uterus. Cells from the cervix are examined under a microscope. - A clinical breast exam - to check for breast cancer by feeling and looking at your breasts. Your health care provider may also recommend other tests, including a mammogram or a test for HPV.
Summary : You may only think of tears as those salty drops that fall from your eyes when you cry. Actually, your tears clean your eyes every time you blink. Tears also keep your eyes moist, which is important for your vision. Tear glands produce tears, and tear ducts carry the tears from the glands to the surface of your eye. Problems with the tear system can include too many tears, too few tears, or problems with the tear ducts. Treatment of the problem depends on the cause.
Hashimoto thyroiditis affects 1 to 2 percent of people in the United States. It occurs more often in women than in men, which may be related to hormonal factors. The condition is the most common cause of thyroid underactivity (hypothyroidism) in the United States.
- A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. - Kidney stones are one of the most common disorders of the urinary tract. - Certain foods may promote stone formation in people who are susceptible, but scientists do not believe that eating any specific food causes stones to form in people who are not susceptible. - People with kidney stones may have pain while urinating, see blood in the urine, or feel a sharp pain in the back or lower abdomen. However, people who have small stones that pass easily through the urinary tract may not have symptoms at all. - To diagnose kidney stones, the health care provider will perform a physical exam and take a medical history. The health care provider may perform urine, blood, and imaging tests to complete the diagnosis. - Treatment for kidney stones usually depends on their size and what they are made of, as well as whether they are causing pain or obstructing the urinary tract. Treatments may include shock wave lithotripsy, ureteroscopy, or percutaneous nephrolithotomy. - Kidney stones may be prevented through changes in eating, diet, and nutrition and medications.
The prevalence of nephrogenic diabetes insipidus is unknown, although the condition is thought to be rare. The acquired form occurs more frequently than the hereditary form.
This condition is not inherited. It arises from a somatic mutation in histiocytes or their precursor cells during an individual's lifetime.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them. If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include - Paleness - Jaundice - Dark urine - Fatigue - Shortness of breath - Enlarged spleen - Rapid heart rate A blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions. NIH: National Library of Medicine
The disorder is characterized by recurrences and remissions, and successive recurrences may incapacitate the patient. Due to the intensity of the pain, even the fear of an impending attack may prevent activity. Trigeminal neuralgia is not fatal.
Is cold agglutinin disease inherited? Cold agglutinin disease is not an inherited condition. It is designated as either primary (unknown cause) or secondary (associated with or caused by another condition). In some cases, cold agglutinin may be multifactorial which means that multiple environmental factors and genes likely interact to predispose a person to developing the condition. However, to our knowledge, no disease-causing genes have been identified and no familial cases have been reported.
Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy, distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time. Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance. Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner. Treatment is focused on managing individual symptoms.
Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), and lymph nodes. In addition to fat deposits, calcium deposits in the adrenal glands are also seen. Infants with Wolman disease are healthy and active at birth but soon develop signs and symptoms of the disorder. These may include an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, low muscle tone, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, developmental delay, low amounts of iron in the blood (anemia), and poor absorption of nutrients from food. Children affected by this condition develop severe malnutrition and generally do not survive past early childhood.
Epidermolytic hyperkeratosis can have different inheritance patterns. About half of the cases of this condition result from new mutations in the KRT1 or KRT10 gene and occur in people with no history of the disorder in their family. When epidermolytic hyperkeratosis is inherited, it is usually in an autosomal dominant pattern, which means one copy of the altered KRT1 or KRT10 gene in each cell is sufficient to cause the disorder. Very rarely, epidermolytic hyperkeratosis caused by mutations in the KRT10 gene can be 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.
Striatonigral degeneration is a neurological disorder caused by a disruption in the connection between two areas of the brain-the striatum and the substantia nigra. These two areas work together to enable balance and movement. Striatonigral degeneration is a type of multiple system atrophy (MSA). Symptoms of the disorder resemble some of those seen in Parkinson's disease, including rigidity, instability, impaired speech, and slow movements.
Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of people affected by Ellis-van Creveld syndrome have changes (mutations) in the EVC or EVC2 genes; the cause of the remaining cases is unknown. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Vasculitis is an inflammation of the blood vessels. It happens when the body's immune system attacks the blood vessel by mistake. It can happen because of an infection, a medicine, or another disease. The cause is often unknown. Vasculitis can affect arteries, veins and capillaries. Arteries are vessels that carry blood from the heart to the body's organs. Veins are the vessels that carry blood back to the heart. Capillaries are tiny blood vessels that connect the small arteries and veins. When a blood vessel becomes inflamed, it can - Narrow, making it more difficult for blood to get through - Close off completely so that blood can't get through - Stretch and weaken so much that it bulges. The bulge is called an aneurysm. If it bursts, it can cause dangerous bleeding inside the body. Symptoms of vasculitis can vary, but usually include fever, swelling and a general sense of feeling ill. The main goal of treatment is to stop the inflammation. Steroids and other medicines to stop inflammation are often helpful. NIH: National Heart, Lung, and Blood Institute
Hepatitis B is called a silent killer because many people have no symptoms, so the disease often progresses unnoticed for years. Unfortunately, many people first learn they have chronic hepatitis B when they develop symptoms of severe liver damage, which include - yellowish eyes and skin, called jaundice - a swollen stomach or ankles - tiredness - nausea - weakness - loss of appetite - weight loss - spiderlike blood vessels, called spider angiomas, that develop on the skin
The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. In men, the urethra is long, while in women it is short.
Hematuria can be caused by menstruation, vigorous exercise, sexual activity, viral illness, trauma, or infection, such as a urinary tract infection (UTI). More serious causes of hematuria include - cancer of the kidney or bladder - inflammation of the kidney, urethra, bladder, or prostatea walnut-shaped gland in men that surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen - polycystic kidney diseasean inherited disorder characterized by many grape-like clusters of fluid-filled cysts that make both kidneys larger over time, taking over and destroying working kidney tissue - blood clots - blood clotting disorders, such as hemophilia - sickle cell diseasean inherited disorder in which RBCs form an abnormal crescent shape, resulting in less oxygen delivered to the bodys tissues, clogging of small blood vessels, and disruption of healthy blood flow
How is erythropoietic protoporphyria (EPP) inherited? EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. In a small number of cases, an affected individual has two loss-of-function mutations. When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% (1 in 4) chance to be unaffected and not be a carrier
Pyelonephritis is a type of urinary tract infection (UTI) that affects one or both kidneys.
If a person drinks too much or too often he or she may develop an alcohol use disorder (AUD). An AUD can range in severity from mild to severe. On one end of this spectrum, drinking might cause sickness, depression, or sleeping problems. More severe symptoms include drinking more than intended or craving alcohol once youve stopped drinking. AUD can be a lifelong disease in which people have a strong need to drink, cannot control their drinking once they start, and over time need to drink greater and greater amounts of alcohol to get high. Older adults who develop a severe AUD become physically dependent on alcohol. When they stop drinking, they can get nauseated, sweaty, shaky, and restless. These withdrawal symptoms can cause them to start drinking again to feel better, even though doing so can lead to physical or psychological problems. Learn more about alcohol use disorder.
The more likely you are to fall, the higher your risk for a fracture. And more severe falls increase your risk for fractures. Factors that increase your risk of falling and of fracturing a bone include - decreased muscle strength - poor balance - impaired eyesight - impaired mental abilities - certain medications, such as tranquilizers and muscle relaxants - hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks. decreased muscle strength poor balance impaired eyesight impaired mental abilities certain medications, such as tranquilizers and muscle relaxants hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks.
Duane syndrome type 3 is a disorder of eye movement. The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms. In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.
When cancer spreads from its original location in the breast to another part of the body such as the brain, it is called metastatic breast cancer, not brain cancer. Doctors sometimes call this "distant" disease.
The incidence of distal hereditary motor neuropathy, type V is unknown. Only a small number of cases have been reported.
Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized by a short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth. This condition is believed to be inherited in an autosomal recessive manner. It does not appear to be compatible with life.
How is cold agglutinin disease diagnosed? A diagnosis of cold agglutinin disease may be made after several types of tests are performed by a health care provider. In some cases, the diagnosis is first suspected by chance if a routine complete blood count (CBC) detects abnormal clumping (agglutination) of the red blood cells. In most cases, the diagnosis is based on evidence of hemolytic anemia (from symptoms and/or blood tests). A person may also be physically examined for spleen or liver enlargement. An antiglobulin test (called the Coombs test) may be performed to determine the presence of a specific type of antibody. In people with cold agglutinin disease, the Coomb's test is almost always positive for immunoglobulin M (IgM). Detailed information about the various tests used to make a diagnosis of cold agglutinin disease is available on Medscape Reference's Web site. Please click on the link to access this resource.
Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projections that can be found in most of the tumors. PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive .Though the exact cause of papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.
These resources address the diagnosis or management of actin-accumulation myopathy: - Genetic Testing Registry: Nemaline myopathy 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
The inheritance pattern of GPA is unknown. Most instances are sporadic and occur in individuals with no history of the disorder in their family. Only rarely is more than one member of the same family affected by the disorder.
Summary : Women have unique health issues. And some of the health issues that affect both men and women can affect women differently. Unique issues include pregnancy, menopause, and conditions of the female organs. Women can have a healthy pregnancy by getting early and regular prenatal care. They should also get recommended breast cancer, cervical cancer, and bone density screenings. Women and men also have many of the same health problems. But these problems can affect women differently. For example, - Women are more likely to die following a heart attack than men - Women are more likely to show signs of depression and anxiety than men - The effects of sexually transmitted diseases can be more serious in women - Osteoarthritis affects more women than men - Women are more likely to have urinary tract problems NIH: National Institute of Child Health and Human Development
Ring chromosome 20 syndrome appears to be a rare condition, although its prevalence is unknown. More than 60 affected individuals have been reported in the medical literature.
Diverticulosis becomes more common as people age, particularly in people older than age 50.3 Some people with diverticulosis develop diverticulitis, and the number of cases is increasing. Although diverticular disease is generally thought to be a condition found in older adults, it is becoming more common in people younger than age 50, most of whom are male.1
Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the cancer. - Where the tumor is in the lip or oral cavity. - Whether the cancer has spread to blood vessels. For patients who smoke, the chance of recovery is better if they stop smoking before beginning radiation therapy. Treatment options depend on the following: - The stage of the cancer. - The size of the tumor and where it is in the lip or oral cavity. - Whether the patient's appearance and ability to talk and eat can stay the same. - The patient's age and general health. Patients who have had lip and oral cavity cancer have an increased risk of developing a second cancer in the head or neck. Frequent and careful follow-up is important. Clinical trials are studying the use of retinoid drugs to reduce the risk of a second head and neck cancer. Information about ongoing clinical trials is available from the NCI website.
Scientists who are working to better understand and treat psoriasis are making headway in several different areas, including the role of T cells, new treatments, psoriasis genes, psoriasis-related conditions, and stress-reduction treatment.
What causes adult-onset Still's disease? The cause of adult-onset Stills disease is unknown. Some hypothesize that the condition results from or is triggered by a virus or other infectious agent. Others believe that it is a hypersensitive or autoimmune disorder. To date, no conclusive evidence has been found to prove or disprove either theory.
These resources address the diagnosis or management of osteoglophonic dysplasia: - Genetic Testing Registry: Osteoglophonic dysplasia - Seattle Children's Hospital: Dwarfism and Bone Dysplasias 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
ALSP is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells, including glial cells. The CSF-1 receptor triggers signaling pathways that control many important cellular processes, such as cell growth and division (proliferation) and maturation of the cell to take on specific functions (differentiation). CSF1R gene mutations in ALSP lead to an altered CSF-1 receptor protein that is likely unable to stimulate cell signaling pathways. However, it is unclear how the gene mutations lead to white matter damage or cognitive and movement problems in people with ALSP.
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.
Summary : Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts, and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells, and platelets. Red blood cells (RBC) deliver oxygen from your lungs to your tissues and organs. White blood cells (WBC) fight infection and are part of your body's defense system. Platelets help blood to clot when you have a cut or wound. Bone marrow, the spongy material inside your bones, makes new blood cells. Blood cells constantly die and your body makes new ones. Red blood cells live about 120 days, and platelets live about 6 days. Some white blood cells live less than a day, but others live much longer. Blood tests show whether the levels of substances in your blood are within a normal range. They help doctors check for certain diseases and conditions. They also help check the function of your organs and show how well treatments are working.Some of the most common blood tests are blood count tests, which measure the number, size, and shape of cells and platelets in the blood. Problems with your blood may include bleeding disorders, excessive clotting and platelet disorders. If you lose too much blood, you may need a transfusion.
How might adenocarcinoma of the appendix be diagnosed? Adenocarcinoma of the appendix may be identified along with acute appendicitis. Mucinous adenocarcinomas may also be found incidentally as a right sided cystic mass on an imaging study.
How is Tylosis with esophageal cancer inherited? This condition has an autosomal dominant pattern of inheritance, which means that a mutation in one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals typically have one parent with the condition.
Frontal fibrosing alopecia (FFA) is a form of lichen planus follicularis that is characterized primarily by slowly progressive hair loss (alopecia) and scarring on the scalp near the forehead. In some cases, the eyebrows, eye lashes and/or other parts of the body may be involved, as well. Although it has been suggested that FFA may be due to hormonal changes or an autoimmune response, the exact cause of this condition is not yet known. There is currently no cure for FFA; however, treatment with certain types of medications may stop or slow hair loss in some cases.
Scientists have developed tests to determine the nature and extent of a person's smell disorder. Tests measure the smallest amount of odor patients can detect as well as how accurately a person can identify different smells. An easily administered "scratch and sniff" test allows a person to scratch pieces of paper treated to release different odors, sniff them, and try to identify each odor from a list of possibilities. In this way, doctors can determine whether a person has a decreased ability to smell (hyposmia), the inability to detect any odors (anosmia), or another kind of smell disorder. In some cases, your doctor may need to perform a nasal examination with a nasal endoscope, an instrument that illuminates and magnifies the areas of the nose where the problem may exist. This test can help identify the area and extent of the problem and help your doctor select the right treatment. If your doctor suspects that upper regions of the nose and nasal sinuses that can't be seen by an endoscope are involved, he or she may order a specialized X-ray procedure, usually a CT scan, to look further into the nose and sinuses.
DOLK-CDG is caused by mutations in the DOLK gene. This gene provides instructions for making the enzyme dolichol kinase, which facilitates the final step of the production of a compound called dolichol phosphate. This compound is critical for a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation changes proteins in ways that are important for their functions. During glycosylation, sugars are added to dolichol phosphate in order to build the oligosaccharide chain. Once the chain is formed, dolichol phosphate transports the oligosaccharide to the protein that needs to be glycosylated and attaches it to a specific site on the protein. Mutations in the DOLK gene lead to the production of abnormal dolichol kinase with reduced or absent activity. Without properly functioning dolichol kinase, dolichol phosphate is not produced and glycosylation cannot proceed normally. In particular, a protein known to stabilize heart muscle fibers, called alpha-dystroglycan, has been shown to have reduced glycosylation in people with DOLK-CDG. Impaired glycosylation of alpha-dystroglycan disrupts its normal function, which damages heart muscle fibers as they repeatedly contract and relax. Over time, the fibers weaken and break down, leading to dilated cardiomyopathy. The other signs and symptoms of DOLK-CDG are likely due to the abnormal glycosylation of additional proteins in other organs and tissues.
Did You Know: Breast Cancer Statistics? Breast cancer is one of the most common cancers in American women. It is most common among women between the ages of 45-85. Today, more women are surviving breast cancer than ever before. Over two million women are breast cancer survivors. (Watch the video to learn more about breast cancer survival rates. 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.) Men can get breast cancer too, although they account for only one percent of all reported cases. Read more about breast cancer in men.
People with acquired cystic kidney disease may develop the following complications: - an infected cyst, which can cause fever and back pain. - blood in the urine, which can signal that a cyst in the kidney is bleeding. - tumors in the kidneys. People with acquired cystic kidney disease are more likely than people in the general population to have cancerous kidney tumors. However, the chance of cancer spreading is lower in people with acquired cystic kidney disease than that of other kidney cancers not associated with acquired cystic kidney disease, and the long-term outlook is better.1
Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.[1]
These resources address the diagnosis or management of DOLK-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview - Genetic Testing Registry: Congenital disorder of glycosylation type 1M - MedlinePlus Encyclopedia: Dilated Cardiomyopathy 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
Mutations in the FH gene cause hereditary leiomyomatosis and renal cell cancer. The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). This enzyme participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate. People with HLRCC are born with one mutated copy of the FH gene in each cell. The second copy of the FH gene in certain cells may also acquire mutations as a result of environmental factors such as ultraviolet radiation from the sun or a mistake that occurs as DNA copies itself during cell division. FH gene mutations may interfere with the enzyme's role in the citric acid cycle, resulting in a buildup of fumarate. Researchers believe that the excess fumarate may interfere with the regulation of oxygen levels in the cell. Chronic oxygen deficiency (hypoxia) in cells with two mutated copies of the FH gene may encourage tumor formation and result in the tendency to develop leiomyomas and renal cell cancer.
The main goal of cholesterol-lowering treatment is to lower your LDL (bad) cholesterol level enough to reduce your risk of having a heart attack or diseases caused by narrowing of the arteries.

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