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What is (are) Hypoglycemia ?

Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include - Hunger - Shakiness - Dizziness - Confusion - Difficulty speaking - Feeling anxious or weak In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

What are the treatments for High Blood Cholesterol ?

There are two main ways to lower your cholesterol: Therapeutic Lifestyle Changes and medicines.

What causes Systemic scleroderma ?

What causes systemic scleroderma? The exact, underlying cause of systemic sclerosis is unknown. The cause appears to involve some injury to the cells that line blood vessels, resulting in excessive activation of dermal connective tissue cells, called fibroblasts. Fibroblasts normally produce collagen and other proteins. Build-up of collagen in the skin and other organs causes the signs and symptoms of the condition. It is suspected that scleroderma may develop from a variety of factors, which may include: Abnormal immune or inflammatory activity Genetic susceptibility: while no specific genes are thought to cause scleroderma, certain genes (or combination of genes) may increase a person's risk to be affected. However, the condition is not passed directly from parents to children. Environmental triggers: suspected triggers may include infections; injury; drugs (e.g. vitamin K, cocaine, penicillamine, appetite suppressants and some chemotherapeutic agents); and chemicals (e.g. silica, organic solvents, pesticides, aliphatic hydrocarbons and epoxy resin). Hormones: because women develop scleroderma more often than men, researchers suspect that hormones may play a role. However, the role of female hormones has not been proven. Widespread scleroderma can also occur in association with other autoimmune diseases, including systemic lupus erythematosus and polymyositis.

How many people are affected by polymicrogyria ?

The prevalence of isolated polymicrogyria is unknown. Researchers believe that it may be relatively common overall, although the individual forms of the disorder (such as bilateral generalized polymicrogyria) are probably rare.

Is VLDLR-associated cerebellar hypoplasia inherited ?

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.

What are the symptoms of Pseudoainhum ?

What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Hansen's disease ?

Hansen's disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes. After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions; muscle weakness or paralysis; eye problems that may lead to blindness; nosebleeds; severe pain; and/or numbness in the hands, feet, arms and legs. Hansen's disease is caused by the bacterium Mycobacterium leprae; however, the way in which the bacterium is transmitted (spread) is poorly understood. It appears that only about 5% of people are susceptible to the condition. Hansen's disease is easily treated with combination antibiotics for 6 months to 2 years.

What are the treatments for phosphoribosylpyrophosphate synthetase superactivity ?

These resources address the diagnosis or management of PRS superactivity: - Gene Review: Gene Review: Phosphoribosylpyrophosphate Synthetase Superactivity - Genetic Testing Registry: Phosphoribosylpyrophosphate synthetase superactivity - MedlinePlus Encyclopedia: Hearing Loss - MedlinePlus Encyclopedia: Movement, Uncoordinated 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

What is (are) Blue rubber bleb nevus syndrome ?

Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines). The malformed blood vessels appear as a spot or lesion called a nevus. The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person. Affected areas on the skin can be painful or tender to the touch and may be prone to sweating (hyperhidrosis). Nevi in the intestines can bleed spontaneously and cause anemia or more serious complications. Other symptoms vary depending on the organ affected. Treatment is tailored to the individual depending on the location and symptoms caused by the affected areas.

What are the genetic changes related to aromatase excess syndrome ?

Rearrangements of genetic material involving the CYP19A1 gene cause aromatase excess syndrome. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In females, estrogen guides female sexual development before birth and during puberty. In both males and females, estrogen plays a role in regulating bone growth. The condition can result from several types of genetic rearrangements involving the CYP19A1 gene. These rearrangements alter the activity of the gene and lead to an increase in aromatase production. In affected males, the increased aromatase and subsequent conversion of androgens to estrogen are responsible for the gynecomastia and limited bone growth characteristic of aromatase excess syndrome. Increased estrogen in females can cause symptoms such as irregular menstrual periods and short stature.

What are the genetic changes related to otopalatodigital syndrome type 2 ?

Mutations in the FLNA gene cause otopalatodigital syndrome type 2. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin to form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell. A small number of mutations in the FLNA gene have been identified in people with otopalatodigital syndrome type 2. The mutations all result in changes to the filamin A protein in the region that binds to actin. The mutations responsible for otopalatodigital syndrome type 2 are described as "gain-of-function" because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of otopalatodigital syndrome type 2.

Is Leber hereditary optic neuropathy inherited ?

LHON has a mitochondrial pattern of inheritance, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. Often, people who develop the features of LHON have no family history of the condition. Because a person may carry an mtDNA mutation without experiencing any signs or symptoms, it is hard to predict which members of a family who carry a mutation will eventually develop vision loss or other problems associated with LHON. It is important to note that all females with an mtDNA mutation, even those who do not have any signs or symptoms, will pass the genetic change to their children.

Is Laing distal myopathy inherited ?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A small percentage of cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Is Erythropoietic protoporphyria inherited ?

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

What are the symptoms of Branchial arch syndrome X-linked ?

What are the signs and symptoms of Branchial arch syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Branchial arch syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Abnormality of the pinna 90% Branchial anomaly 90% Conductive hearing impairment 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Prominent nasal bridge 90% Sensorineural hearing impairment 90% Short stature 90% Triangular face 90% Webbed neck 90% Aplasia/Hypoplasia of the eyebrow 50% Cryptorchidism 50% Epicanthus 50% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary artery 7.5% Abnormality of the pulmonary valve 7.5% Asymmetric growth 7.5% Facial asymmetry 7.5% Pectus excavatum 7.5% Ptosis 7.5% Hearing impairment - High palate - Low-set ears - Protruding ear - Pulmonic stenosis - Specific learning disability - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

How many people are affected by X-linked chondrodysplasia punctata 2 ?

X-linked chondrodysplasia punctata 2 has been estimated to affect fewer than 1 in 400,000 newborns. However, the disorder may actually be more common than this estimate because it is likely underdiagnosed, particularly in females with mild signs and symptoms. More than 95 percent of cases of X-linked chondrodysplasia punctata 2 occur in females. About a dozen males with the condition have been reported in the scientific literature.

What causes Ehlers-Danlos syndrome, progeroid type ?

What causes Ehlers-Danlos syndrome progeroid type? Ehlers-Danlos syndrome progeroid type is caused by changes (mutations) in both of an individual's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main protein in connective tissue). When not enough enzyme is made by the B4GALT7 genes, collagen is not formed correctly in connective tissue. The symptoms of the disorder are caused by weak connective tissue. Researchers are still studying exactly how mutations in the B4GALT7 gene cause the signs and symptoms of Ehlers-Danlos syndrome progeroid type.

What to do for Diarrhea ?

Until diarrhea subsides, avoiding caffeine and foods that are greasy, high in fiber, or sweet may lessen symptoms. These foods can aggravate diarrhea. Some people also have problems digesting lactose during or after a bout of diarrhea. Yogurt, which has less lactose than milk, is often better tolerated. Yogurt with active, live bacterial cultures may even help people recover from diarrhea more quickly. As symptoms improve, soft, bland foods can be added to the diet, including bananas, plain rice, boiled potatoes, toast, crackers, cooked carrots, and baked chicken without the skin or fat. For children, the health care provider may also recommend a bland diet. Once the diarrhea stops, the health care provider will likely encourage children to return to a normal and healthy diet if it can be tolerated. Infants with diarrhea should be given breast milk or full-strength formula as usual, along with oral rehydration solutions. Some children recovering from viral diarrheas have problems digesting lactose for up to a month or more.

What causes Jones syndrome ?

What causes Jones syndrome? The exact, underlying genetic cause of Jones syndrome is not yet known.

What are the treatments for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?

Treatment for CIDP includes corticosteroids such as prednisone, which may be prescribed alone or in combination with immunosuppressant drugs. Plasmapheresis (plasma exchange) and intravenous immunoglobulin (IVIg) therapy are effective. IVIg may be used even as a first-line therapy. Physiotherapy may improve muscle strength, function and mobility, and minimize the shrinkage of muscles and tendons and distortions of the joints.

What is (are) 47, XYY syndrome ?

47, XYY syndrome is a condition in males characterized by features that occur due to having an extra copy of the Y chromosome in each cell. Signs and symptoms can vary and range from barely noticeable to more severe; many men with the extra Y chromosome are completely unaware of its presence. Appearance and intelligence are usually normal, but learning disabilities may be present. Other signs and symptoms may include autism spectrum disorder (usually on the milder end); speech or motor delay; low muscle tone; asthma; tall stature; impaired social skills; ADHD; and/or anxiety or mood disorders. While sexual development and infertility is usually normal, some adolescents and adults have testicular failure. 47, XYY syndrome usually is not inherited, occurring due to a random event in the formation of a sperm cell prior to conception. Management depends on the symptoms in each person and may include intervention or therapies for developmental delays, behavior or mood disorders; and/or special education.

What is (are) Progressive myoclonic epilepsy ?

Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence.

What are the symptoms of Perry syndrome ?

What are the signs and symptoms of Perry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Perry syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of extrapyramidal motor function 90% Respiratory insufficiency 90% Sleep disturbance 90% Tremor 90% Weight loss 90% Developmental regression 7.5% Hallucinations 7.5% Hypotension 7.5% Abnormality of metabolism/homeostasis - Apathy - Autosomal dominant inheritance - Bradykinesia - Central hypoventilation - Dysarthria - Hypoventilation - Inappropriate behavior - Insomnia - Mask-like facies - Parkinsonism - Rapidly progressive - Rigidity - Short stepped shuffling gait - Vertical supranuclear gaze palsy - Weak voice - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

How to diagnose Skin Cancer ?

Tests or procedures that examine the skin are used to detect (find) and diagnose nonmelanoma skin cancer and actinic keratosis. The following procedures may be used: - Skin exam: A doctor or nurse checks the skin for bumps or spots that look abnormal in color, size, shape, or texture. - Skin biopsy : All or part of the abnormal-looking growth is cut from the skin and viewed under a microscope by a pathologist to check for signs of cancer. There are four main types of skin biopsies: - Shave biopsy : A sterile razor blade is used to shave-off the abnormal-looking growth. - Punch biopsy : A special instrument called a punch or a trephine is used to remove a circle of tissue from the abnormal-looking growth. - Incisional biopsy : A scalpel is used to remove part of a growth. - Excisional biopsy : A scalpel is used to remove the entire growth.

What is (are) Parasites - Toxocariasis (also known as Roundworm Infection) ?

Frequently Asked Questions (FAQs) Fact Sheets

What are the symptoms of Orofaciodigital syndrome 3 ?

What are the signs and symptoms of Orofaciodigital syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 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) Abnormality of the pupil 90% Cleft palate 90% Cognitive impairment 90% Increased number of teeth 90% Kyphosis 90% Pectus excavatum 90% Postaxial hand polydactyly 90% Abnormal nasal morphology 50% Abnormality of eye movement 50% Abnormality of the fingernails 50% Abnormality of the nipple 50% Abnormality of the tragus 50% EEG abnormality 50% Frontal bossing 50% Hypertelorism 50% Hypertonia 50% Low-set, posteriorly rotated ears 50% Muscular hypotonia 50% Prominent occiput 50% Round face 50% Abnormality of the macula 7.5% Autosomal recessive inheritance - Bifid uvula - Bulbous nose - Hyperconvex nail - Intellectual disability - Low-set ears - Microdontia - Myoclonus - Postaxial foot polydactyly - Short sternum - Tongue nodules - 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 is (are) Neural Tube Defects ?

Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. There is usually nerve damage that causes at least some paralysis of the legs. In anencephaly, most of the brain and skull do not develop. Babies with anencephaly are usually either stillborn or die shortly after birth. Another type of defect, Chiari malformation, causes the brain tissue to extend into the spinal canal. The exact causes of neural tube defects aren't known. You're at greater risk of having an infant with a neural tube defect if you - Are obese - Have poorly controlled diabetes - Take certain antiseizure medicines Getting enough folic acid, a type of B vitamin, before and during pregnancy prevents most neural tube defects. Neural tube defects are usually diagnosed before the infant is born, through lab or imaging tests. There is no cure for neural tube defects. The nerve damage and loss of function that are present at birth are usually permanent. However, a variety of treatments can sometimes prevent further damage and help with complications. NIH: National Institute of Child Health and Human Development

How to prevent Problems with Smell ?

Problems with smell that occur with aging are not preventable. However, you can protect yourself against other causes of smell loss with these steps. - Treat Sinus and Nasal Conditions. Swollen sinuses and nasal passages may cause total or partial loss of smell. Your doctor may prescribe an antibiotic or anti-inflammatory drug to reduce nasal swelling from chronic sinus infections, a major cause of smell loss. Treat Sinus and Nasal Conditions. Swollen sinuses and nasal passages may cause total or partial loss of smell. Your doctor may prescribe an antibiotic or anti-inflammatory drug to reduce nasal swelling from chronic sinus infections, a major cause of smell loss. - Prevent Upper Respiratory Infections. Colds and respiratory infections such as the flu can lead to smell disorders. Wash your hands frequently, especially during the winter months, and get a flu shot every year. For more information about the flu vaccine, visit Key Facts About Seasonal Flu Vaccine Prevent Upper Respiratory Infections. Colds and respiratory infections such as the flu can lead to smell disorders. Wash your hands frequently, especially during the winter months, and get a flu shot every year. For more information about the flu vaccine, visit Key Facts About Seasonal Flu Vaccine - Avoid Allergens. Keep away from allergens such as ragweed, grasses, and pet dander that can cause seasonal allergies or nasal congestion. Avoid Allergens. Keep away from allergens such as ragweed, grasses, and pet dander that can cause seasonal allergies or nasal congestion. - Avoid Head Injuries. Previous surgery or trauma to the head can impair your sense of smell because the olfactory nerves may be cut, blocked, or physically damaged. Always wear seatbelts when riding in a car and a helmet when bicycling. Avoid Head Injuries. Previous surgery or trauma to the head can impair your sense of smell because the olfactory nerves may be cut, blocked, or physically damaged. Always wear seatbelts when riding in a car and a helmet when bicycling. - Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. Avoid Exposure to Toxic Chemicals. Avoid contact with chemicals that might cause smell problems such as paints, insecticides, and solvents, or wear a respirator if you cannot avoid contact. - Review Your Medications. If you are taking medications such as antibiotics or antihistamines and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell. Review Your Medications. If you are taking medications such as antibiotics or antihistamines and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell. - Dont Smoke. It impairs the ability to identify and enjoy odors. For free help to quit smoking, visit www.Smokefree.gov Dont Smoke. It impairs the ability to identify and enjoy odors. For free help to quit smoking, visit www.Smokefree.gov - Treat Nasal Polyps If Necessary. If you have nasal polyps, having them removed may restore smell. Treat Nasal Polyps If Necessary. If you have nasal polyps, having them removed may restore smell. - Treat Other Conditions. If you have diabetes, thyroid abnormalities, certain vitamin deficiencies, or are malnourished and you experience a loss of smell or taste, tell your doctor. In some cases, when the condition that is causing the problem with smell is treated, the sense of smell returns. Treat Other Conditions. If you have diabetes, thyroid abnormalities, certain vitamin deficiencies, or are malnourished and you experience a loss of smell or taste, tell your doctor. In some cases, when the condition that is causing the problem with smell is treated, the sense of smell returns.

What is (are) Post-Polio Syndrome ?

Post-polio syndrome (PPS) is a condition that affects polio survivors many years after recovery from an initial attack of the poliomyelitis virus. PPS is characterized by a further weakening of muscles that were previously affected by the polio infection. The most common symptoms include slowly progressive muscle weakness, fatigue (both general and muscular), and a decrease in muscle size (muscular atrophy). Pain from joint deterioration and increasing skeletal deformities such as scoliosis are common. Some individuals experience only minor symptoms, while others develop more visible muscle weakness and atrophy. PPS is rarely life-threatening but the symptoms can interfere significantly with the individual's capacity to function independently. While polio is contagious, PPS is not transmissible. Only a polio survivor can develop PPS.

what research (or clinical trials) is being done for Childhood Rhabdomyosarcoma ?

New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Immunotherapy Immunotherapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biologic therapy or biotherapy. There are different types of immunotherapy: - Immune checkpoint inhibitor therapy uses the body's immune system to kill cancer cells. Two types of immune checkpoint inhibitors are being studied in the treatment of childhood rhabdomyosarcoma that has come back after treatment: - CTLA-4 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When CTLA-4 attaches to another protein called B7 on a cancer cell, it stops the T cell from killing the cancer cell. CTLA-4 inhibitors attach to CTLA-4 and allow the T cells to kill cancer cells. Ipilimumab is a type of CTLA-4 inhibitor. - PD-1 is a protein on the surface of T cells that helps keep the bodys immune responses in check. When PD-1 attaches to another protein called PDL-1 on a cancer cell, it stops the T cell from killing the cancer cell. PD-1 inhibitors attach to PDL-1 and allow the T cells to kill cancer cells. Nivolumab and pembrolizumab are PD-1 inhibitors. - Vaccine therapy is a type of immunotherapy being studied to treat metastatic rhabdomyosarcoma. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation do. There are different types of targeted therapy: - mTOR inhibitors stop the protein that helps cells divide and survive. Sirolimus is a type of mTOR inhibitor therapy being studied in the treatment of recurrent rhabdomyosarcoma. - Tyrosine kinase inhibitors are small-molecule drugs that go through the cell membrane and work inside cancer cells to block signals that cancer cells need to grow and divide. MK-1775 is a tyrosine kinase inhibitor being studied in the treatment of recurrent rhabdomyosarcoma. - Antibody-drug conjugates are made up of a monoclonal antibody attached to a drug. The monoclonal antibody binds to specific proteins or receptors found on certain cells, including cancer cells. The drug enters these cells and kills them without harming other cells. Lorvotuzumab mertansine is an antibody-drug conjugate being studied in the treatment of recurrent rhabdomyosarcoma. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.

What is (are) Tyrosinemia type 3 ?

Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.

What is (are) Pallister-Killian mosaic syndrome ?

Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. Most babies with Pallister-Killian mosaic syndrome are born with significant hypotonia, which can cause difficulty breathing and problems with feeding. Hypotonia also interferes with the normal development of motor skills such as sitting, standing, and walking. About 30 percent of affected individuals are ultimately able to walk without assistance. Additional developmental delays result from intellectual disability, which is usually severe to profound. Speech is often limited or absent in people with this condition. Pallister-Killian mosaic syndrome is associated with a distinctive facial appearance that is often described as "coarse." Characteristic facial features include a high, rounded forehead; a broad nasal bridge; a short nose; widely spaced eyes; low-set ears; rounded cheeks; and a wide mouth with a thin upper lip and a large tongue. Some affected children are born with an opening in the roof of the mouth (cleft palate) or a high arched palate. Most children with Pallister-Killian mosaic syndrome have sparse hair on their heads, particularly around the temples. These areas may fill in as affected children get older. Many affected individuals also have streaks or patches of skin that are darker or lighter than the surrounding skin. These skin changes can occur anywhere on the body, and they may be apparent at birth or occur later in life. Additional features of Pallister-Killian mosaic syndrome can include hearing loss, vision impairment, seizures, extra nipples, genital abnormalities, and heart defects. Affected individuals may also have skeletal abnormalities such as extra fingers and/or toes, large big toes (halluces), and unusually short arms and legs. About 40 percent of affected infants are born with a congenital diaphragmatic hernia, which is a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm). This potentially serious birth defect allows the stomach and intestines to move into the chest, where they can crowd the developing heart and lungs. The signs and symptoms of Pallister-Killian mosaic syndrome vary, although most people with this disorder have severe to profound intellectual disability and other serious health problems. The most severe cases involve birth defects that are life-threatening in early infancy. However, several affected people have had milder features, including mild intellectual disability and less noticeable physical abnormalities.

Is 3-hydroxyacyl-CoA dehydrogenase deficiency inherited ?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

How to diagnose GM1 gangliosidosis ?

Is genetic testing available for GM1 gangliosidosis? Yes. A diagnosis of GM1 gangliosidosis (GM1), can be made by either enzyme analysis of the beta-galactosidase enzyme, or by molecular genetic testing of the GLB1 gene. Despite the availability of molecular genetic testing, the mainstay of diagnosis will likely continue to be enzyme activity because of cost and difficulty in interpreting unclear results. However, enzyme activity may not be predictive of carrier status in relatives of affected people. Carrier testing for at-risk family members is done with molecular genetic testing, and is possible if the disease-causing mutations in the family are already known. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

What causes Multiple pterygium syndrome Escobar type ?

What causes multiple pterygium syndrome, Escobar type? Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined. Escobar syndrome is usually inherited in an autosomal-recessive fashion.

What are the treatments for prostate cancer ?

These resources address the diagnosis or management of prostate cancer: - American College of Radiology: Prostate Cancer Radiation Treatment - Genetic Testing Registry: Familial prostate cancer - Genetic Testing Registry: Prostate cancer, hereditary, 2 - MedlinePlus Encyclopedia: Prostate Brachytherapy - MedlinePlus Encyclopedia: Prostate Cancer Staging - MedlinePlus Encyclopedia: Prostate Cancer Treatment - MedlinePlus Encyclopedia: Prostate-Specific Antigen (PSA) Blood Test - MedlinePlus Encyclopedia: Radical Prostatectomy - MedlinePlus Health Topic: Prostate Cancer Screening - National Cancer Institute: Prostate-Specific Antigen (PSA) Test - U.S. Preventive Services Task Force 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

What is (are) Focal dermal hypoplasia ?

Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. The skin abnormalities are present from birth and can include streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases. They also may abnormalities in the nails, hands, and feet. Some of the eye findings present may include small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. People with focal dermal hypoplasia may also have distinctive facial features such as a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Most individuals with this condition are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability. This condition is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. Treatment is based on the signs and symptoms present in the person; however, care usually involves a team of specialists, including dermatologists, otolaryngologist, physical/occupational therapists, and hand surgeons.

What is (are) benign familial neonatal seizures ?

Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with this condition have generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness. A test called an electroencephalogram (EEG) is used to measure the electrical activity of the brain. Abnormalities on an EEG test, measured during no seizure activity, can indicate a risk for seizures. However, infants with BFNS usually have normal EEG readings. In some affected individuals, the EEG shows a specific abnormality called the theta pointu alternant pattern. By age 2, most affected individuals who had EEG abnormalities have a normal EEG reading. Typically, seizures are the only symptom of BFNS, and most people with this condition develop normally. However, some affected individuals develop intellectual disability that becomes noticeable in early childhood. A small percentage of people with BFNS also have a condition called myokymia, which is an involuntary rippling movement of the muscles. In addition, in about 15 percent of people with BFNS, recurrent seizures (epilepsy) will come back later in life after the seizures associated with BFNS have gone away. The age that epilepsy begins is variable.

What are the genetic changes related to congenital leptin deficiency ?

Congenital leptin deficiency is caused by mutations in the LEP gene. This gene provides instructions for making a hormone called leptin, which is involved in the regulation of body weight. Normally, the body's fat cells release leptin in proportion to their size. As fat accumulates in cells, more leptin is produced. This rise in leptin indicates that fat stores are increasing. Leptin attaches (binds) to and activates a protein called the leptin receptor, fitting into the receptor like a key into a lock. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body including a part of the brain called the hypothalamus. The hypothalamus controls hunger and thirst as well as other functions such as sleep, moods, and body temperature. It also regulates the release of many hormones that have functions throughout the body. In the hypothalamus, the binding of leptin to its receptor triggers a series of chemical signals that affect hunger and help produce a feeling of fullness (satiety). LEP gene mutations that cause congenital leptin deficiency lead to an absence of leptin. As a result, the signaling that triggers feelings of satiety does not occur, leading to the excessive hunger and weight gain associated with this disorder. Because hypogonadotropic hypogonadism occurs in congenital leptin deficiency, researchers suggest that leptin signaling is also involved in regulating the hormones that control sexual development. However, the specifics of this involvement and how it may be altered in congenital leptin deficiency are unknown. Congenital leptin deficiency is a rare cause of obesity. Researchers are studying the factors involved in more common forms of obesity.

What are the treatments for Monomelic Amyotrophy ?

There is no cure for MMA. Treatment consists of muscle strengthening exercises and training in hand coordination

Is MYH9-related disorder inherited ?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Approximately 30 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

What are the treatments for Autoimmune atrophic gastritis ?

How might autoimmune atrophic gastritis be treated? The treatment of autoimmune atrophic gastritis is generally focused on preventing and/or alleviating signs and symptoms of the condition. For example, management is focused on preventing vitamin B12, folate and iron deficiencies in the early stages of the condition. With adequate supplementation of these vitamins and minerals, anemia and other health problems may be avoided. If pernicious anemia is already present at the time of diagnosis, replacement of vitamin B12 is generally recommended via injections. In some cases, endoscopic surveillance may also be recommended due to the increased risk of certain types of cancer. While surgery may be appropriate for the treatment of related cancers, we are not aware of surgical management options or recommendations otherwise. Symptoms of gastritis in general may be managed with prescription or over-the-counter medications (besides antibiotics for H. pylori-associated gastritis) that block or reduce acid production and promote healing. Proton pump inhibitors reduce acid by blocking the action of the parts of cells that produce acid. Examples may include omeprazole, lansoprazole, rabeprazole, esomeprazole, dexlansoprazole and pantoprazole. Histamine (H-2) blockers reduce the amount of acid released into the digestive tract, which relieves gastritis pain and promotes healing. Examples include ranitidine, famotidine, cimetidine and nizatidine. Antacids that neutralize stomach acid and provide pain relief may also be used. We are not aware of dietary guidelines or recommendations for autoimmune atrophic gastritis. Much of the literature on dietary management of gastritis is specific to H. Pylori-associated gastritis. However, people with gastritis in general may find some relief by eating smaller, more-frequent meals; avoiding irritating foods; avoiding alcohol; switching pain relievers; and managing stress.

What are the symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency ?

What are the signs and symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency? Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by transient intrahepatic cholestasis, diffuse fatty liver, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, decreased coagulation factors, hemolytic anemia, hepatomegaly, variable liver dysfunction, and/or hypoglycemia in children younger than one year of age. NICCD is generally not severe, and symptoms typically disappear by age one year with appropriate treatment. At around age two, children with NICCD begin to show a particular fondness for protein-rich and fatty foods and an aversion to sugary and carbohydrate-rich foods. One of more decades later, some of these individuals develop neuropsychiatric symptoms characteristic of adult-onset citrullinemia type II. The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal intrahepatic cholestasis caused by citrin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cirrhosis - Elevated plasma citrulline - Failure to thrive - Growth delay - Hyperbilirubinemia - Hypercholesterolemia - Hypermethioninemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Intrahepatic cholestasis - 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 are the symptoms of Ichthyosis cheek eyebrow syndrome ?

What are the signs and symptoms of Ichthyosis cheek eyebrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis cheek eyebrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Asymmetry of the thorax 90% Full cheeks 90% Ichthyosis 90% Pectus excavatum 90% Scoliosis 90% Sparse lateral eyebrow 90% Kyphosis 7.5% Abnormality of the thorax - Autosomal dominant inheritance - High palate - Kyphoscoliosis - Pes planus - 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 are the symptoms of Holoprosencephaly, recurrent infections, and monocytosis ?

What are the signs and symptoms of Holoprosencephaly, recurrent infections, and monocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Holoprosencephaly, recurrent infections, and monocytosis. 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) Abnormal facial shape - Abnormality of the pinna - Agenesis of corpus callosum - Autosomal dominant inheritance - Brachycephaly - Brachydactyly syndrome - Cryptorchidism - Epicanthus - Failure to thrive - Holoprosencephaly - Intellectual disability, progressive - Intellectual disability, severe - Inverted nipples - Microcephaly - Micropenis - Monocytosis - Recurrent infections - Recurrent skin infections - Short finger - Short toe - Sloping forehead - Tapered finger - 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 are the treatments for Limb-girdle muscular dystrophy, type 2C ?

What treatment is available for limb-girdle muscular dystrophy? There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the person's symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical management of the condition: Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis Monitoring of respiratory function and use of respiratory aids when indicated Monitoring for evidence of cardiomyopathy in those subtypes with known occurrence of cardiac involvement Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders

What is (are) hereditary sensory and autonomic neuropathy type II ?

Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN2. In some affected people, the condition may also cause mild abnormalities of the autonomic nervous system, which controls involuntary body functions such as heart rate, digestion, and breathing. The signs and symptoms of HSAN2 typically begin in infancy or early childhood. The first sign of HSAN2 is usually numbness in the hands and feet. Soon after, affected individuals lose the ability to feel pain or sense hot and cold. People with HSAN2 often develop open sores (ulcers) on their hands and feet. Because affected individuals cannot feel the pain of these sores, they may not seek treatment right away. Without treatment, the ulcers can become infected and may lead to amputation of the affected area. Unintentional self-injury is common in people with HSAN2, typically by biting the tongue, lips, or fingers. These injuries may lead to spontaneous amputation of the affected areas. Affected individuals often have injuries and fractures in their hands, feet, limbs, and joints that go untreated because of the inability to feel pain. Repeated injury can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. The effects of HSAN2 on the autonomic nervous system are more variable. Some infants with HSAN2 have trouble sucking, which makes it difficult for them to eat. People with HSAN2 may experience episodes in which breathing slows or stops for short periods (apnea); digestive problems such as the backflow of stomach acids into the esophagus (gastroesophageal reflux); or slow eye blink or gag reflexes. Affected individuals may also have weak deep tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer. Some people with HSAN2 lose a type of taste bud on the tip of the tongue called lingual fungiform papillae and have a diminished sense of taste.

What are the stages of Non-Small Cell Lung Cancer ?

Key Points - After lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the lungs or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for non-small cell lung cancer: - Occult (hidden) stage - Stage 0 (carcinoma in situ) - Stage I - Stage II - Stage IIIA - Stage IIIB - Stage IV After lung cancer has been diagnosed, tests are done to find out if cancer cells have spread within the lungs or to other parts of the body. The process used to find out if cancer has spread within the lungs or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. Some of the tests used to diagnose non-small cell lung cancer are also used to stage the disease. (See the General Information section.) Other tests and procedures that may be used in the staging process include the following: - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body, such as the brain. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the brain and abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Radionuclide bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. - Pulmonary function test (PFT): A test to see how well the lungs are working. It measures how much air the lungs can hold and how quickly air moves into and out of the lungs. It also measures how much oxygen is used and how much carbon dioxide is given off during breathing. This is also called lung function test. - Endoscopic ultrasound (EUS): A procedure in which an endoscope is inserted into the body. An endoscope is a thin, tube-like instrument with a light and a lens for viewing. A probe at the end of the endoscope is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. This procedure is also called endosonography. EUS may be used to guide fine needle aspiration (FNA) biopsy of the lung, lymph nodes, or other areas. - Mediastinoscopy : A surgical procedure to look at the organs, tissues, and lymph nodes between the lungs for abnormal areas. An incision (cut) is made at the top of the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. - Anterior mediastinotomy : A surgical procedure to look at the organs and tissues between the lungs and between the breastbone and heart for abnormal areas. An incision (cut) is made next to the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It may also have a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. This is also called the Chamberlain procedure. - Lymph node biopsy : The removal of all or part of a lymph node. A pathologist views the tissue under a microscope to look for cancer cells. - Bone marrow aspiration and biopsy : The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for signs of cancer. There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Cancer may spread from where it began to other parts of the body. When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if non-small cell lung cancer spreads to the brain, the cancer cells in the brain are actually lung cancer cells. The disease is metastatic lung cancer, not brain cancer. The following stages are used for non-small cell lung cancer: Occult (hidden) stage In the occult (hidden) stage, cancer cannot be seen by imaging or bronchoscopy. Cancer cells are found in sputum (mucus coughed up from the lungs) or bronchial washing (a sample of cells taken from inside the airways that lead to the lung). Cancer may have spread to other parts of the body. Stage 0 (carcinoma in situ) In stage 0, abnormal cells are found in the lining of the airways. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is also called carcinoma in situ. Stage I In stage I, cancer has formed. Stage I is divided into stages IA and IB: - Stage IA: The tumor is in the lung only and is 3 centimeters or smaller. - Stage IB: Cancer has not spread to the lymph nodes and one or more of the following is true: - The tumor is larger than 3 centimeters but not larger than 5 centimeters. - Cancer has spread to the main bronchus and is at least 2 centimeters below where the trachea joins the bronchus. - Cancer has spread to the innermost layer of the membrane that covers the lung. - Part of the lung has collapsed or developed pneumonitis (inflammation of the lung) in the area where the trachea joins the bronchus. Stage II Stage II is divided into stages IIA and IIB. Stage IIA and IIB are each divided into two sections depending on the size of the tumor, where the tumor is found, and whether there is cancer in the lymph nodes. - Stage IIA: (1) Cancer has spread to lymph nodes on the same side of the chest as the tumor. The lymph nodes with cancer are within the lung or near the bronchus. Also, one or more of the following is true: - The tumor is not larger than 5 centimeters. - Cancer has spread to the main bronchus and is at least 2 centimeters below where the trachea joins the bronchus. - Cancer has spread to the innermost layer of the membrane that covers the lung. - Part of the lung has collapsed or developed pneumonitis (inflammation of the lung) in the area where the trachea joins the bronchus. or (2) Cancer has not spread to lymph nodes and one or more of the following is true: - The tumor is larger than 5 centimeters but not larger than 7 centimeters. - Cancer has spread to the main bronchus and is at least 2 centimeters below where the trachea joins the bronchus. - Cancer has spread to the innermost layer of the membrane that covers the lung. - Part of the lung has collapsed or developed pneumonitis (inflammation of the lung) in the area where the trachea joins the bronchus. - Stage IIB: (1) Cancer has spread to nearby lymph nodes on the same side of the chest as the tumor. The lymph nodes with cancer are within the lung or near the bronchus. Also, one or more of the following is true: - The tumor is larger than 5 centimeters but not larger than 7 centimeters. - Cancer has spread to the main bronchus and is at least 2 centimeters below where the trachea joins the bronchus. - Cancer has spread to the innermost layer of the membrane that covers the lung. - Part of the lung has collapsed or developed pneumonitis (inflammation of the lung) in the area where the trachea joins the bronchus. or (2) Cancer has not spread to lymph nodes and one or more of the following is true: - The tumor is larger than 7 centimeters. - Cancer has spread to the main bronchus (and is less than 2 centimeters below where the trachea joins the bronchus), the chest wall, the diaphragm, or the nerve that controls the diaphragm. - Cancer has spread to the membrane around the heart or lining the chest wall. - The whole lung has collapsed or developed pneumonitis (inflammation of the lung). - There are one or more separate tumors in the same lobe of the lung. Stage IIIA Stage IIIA is divided into three sections depending on the size of the tumor, where the tumor is found, and which lymph nodes have cancer (if any). (1) Cancer has spread to lymph nodes on the same side of the chest as the tumor. The lymph nodes with cancer are near the sternum (chest bone) or where the bronchus enters the lung. Also: - The tumor may be any size. - Part of the lung (where the trachea joins the bronchus) or the whole lung may have collapsed or developed pneumonitis (inflammation of the lung). - There may be one or more separate tumors in the same lobe of the lung. - Cancer may have spread to any of the following: - Main bronchus, but not the area where the trachea joins the bronchus. - Chest wall. - Diaphragm and the nerve that controls it. - Membrane around the lung or lining the chest wall. - Membrane around the heart. or (2) Cancer has spread to lymph nodes on the same side of the chest as the tumor. The lymph nodes with cancer are within the lung or near the bronchus. Also: - The tumor may be any size. - The whole lung may have collapsed or developed pneumonitis (inflammation of the lung). - There may be one or more separate tumors in any of the lobes of the lung with cancer. - Cancer may have spread to any of the following: - Main bronchus, but not the area where the trachea joins the bronchus. - Chest wall. - Diaphragm and the nerve that controls it. - Membrane around the lung or lining the chest wall. - Heart or the membrane around it. - Major blood vessels that lead to or from the heart. - Trachea. - Esophagus. - Nerve that controls the larynx (voice box). - Sternum (chest bone) or backbone. - Carina (where the trachea joins the bronchi). or (3) Cancer has not spread to the lymph nodes and the tumor may be any size. Cancer has spread to any of the following: - Heart. - Major blood vessels that lead to or from the heart. - Trachea. - Esophagus. - Nerve that controls the larynx (voice box). - Sternum (chest bone) or backbone. - Carina (where the trachea joins the bronchi). Stage IIIB Stage IIIB is divided into two sections depending on the size of the tumor, where the tumor is found, and which lymph nodes have cancer. (1) Cancer has spread to lymph nodes above the collarbone or to lymph nodes on the opposite side of the chest as the tumor. Also: - The tumor may be any size. - Part of the lung (where the trachea joins the bronchus) or the whole lung may have collapsed or developed pneumonitis (inflammation of the lung). - There may be one or more separate tumors in any of the lobes of the lung with cancer. - Cancer may have spread to any of the following: - Main bronchus. - Chest wall. - Diaphragm and the nerve that controls it. - Membrane around the lung or lining the chest wall. - Heart or the membrane around it. - Major blood vessels that lead to or from the heart. - Trachea. - Esophagus. - Nerve that controls the larynx (voice box). - Sternum (chest bone) or backbone. - Carina (where the trachea joins the bronchi). or (2) Cancer has spread to lymph nodes on the same side of the chest as the tumor. The lymph nodes with cancer are near the sternum (chest bone) or where the bronchus enters the lung. Also: - The tumor may be any size. - There may be separate tumors in different lobes of the same lung. - Cancer has spread to any of the following: - Heart. - Major blood vessels that lead to or from the heart. - Trachea. - Esophagus. - Nerve that controls the larynx (voice box). - Sternum (chest bone) or backbone. - Carina (where the trachea joins the bronchi). Stage IV In stage IV, the tumor may be any size and cancer may have spread to lymph nodes. One or more of the following is true: - There are one or more tumors in both lungs. - Cancer is found in fluid around the lungs or the heart. - Cancer has spread to other parts of the body, such as the brain, liver, adrenal glands, kidneys, or bone.

What is (are) Seizures ?

Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. NIH: National Institute of Neurological Disorders and Stroke

How many people are affected by Majeed syndrome ?

Majeed syndrome appears to be very rare; it has been reported in three families, all from the Middle East.

What is the outlook for Angelman Syndrome ?

Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.

What are the treatments for Diabetic Retinopathy ?

Research found that that prompt treatment of macular edema with anti-VEGF drugs, with or without laser treatment, resulted in better vision than laser treatment alone or steroid injections. When injected into the eye, these drugs reduce fluid leakage and interfere with the growth of new blood vessels in the retina. In some cases, focal laser treatment is used along with the eye injections. Your doctor places up to several hundred small laser burns in the areas of the retina around the macula that are leaking. These burns slow the leakage of fluid and reduce the amount of fluid in the retina. The surgery is usually completed in one session. Further treatment may be needed.

What are the treatments for dilated cardiomyopathy with ataxia syndrome ?

These resources address the diagnosis or management of dilated cardiomyopathy with ataxia syndrome: - Ann & Robert H. Lurie Children's Hospital of Chicago: Cardiomyopathy - Baby's First Test - Genetic Testing Registry: 3-methylglutaconic aciduria type V - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - National Heart, Lung, and Blood Institute: How is Cardiomyopathy Diagnosed? 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

What to do for Ectopic Kidney ?

Eating, diet, and nutrition have not been shown to play a role in causing or preventing an ectopic kidney.

Who is at risk for High Blood Pressure? ?

Not a Normal Part of Aging Nearly 1 in 3 American adults have high blood pressure. Many people get high blood pressure as they get older. However, getting high blood pressure is not a normal part of aging. There are things you can do to help keep your blood pressure normal, such as eating a healthy diet and getting more exercise. Risk Factors Anyone can develop high blood pressure. However, these factors can increase your risk for developing high blood pressure. - age - race or ethnicity - being overweight - gender - lifestyle habits - a family history of high blood pressure. age race or ethnicity being overweight gender lifestyle habits a family history of high blood pressure. Age Blood pressure tends to rise with age. In fact, about 65 percent of Americans age 60 or older have high blood pressure. Race/Ethnicity High blood pressure is more common in African American adults than in Caucasian or Hispanic American adults. Compared with these ethnic groups, African Americans - tend to get high blood pressure earlier in life - often have higher blood pressure numbers - are less likely to achieve target blood pressure goals with treatment. tend to get high blood pressure earlier in life often have higher blood pressure numbers are less likely to achieve target blood pressure goals with treatment. Overweight You are more likely to develop prehypertension or high blood pressure if youre overweight or obese. The terms overweight and obese refer to body weight thats greater than what is considered healthy for a certain height. Gender Before age 55, men are more likely than women to develop high blood pressure. After age 55, women are more likely than men to develop high blood pressure. Lifestyle Habits Unhealthy lifestyle habits can raise your risk for high blood pressure, and they include - eating too much sodium or too little potassium - lack of physical activity - drinking too much alcohol - smoking - stress. eating too much sodium or too little potassium lack of physical activity drinking too much alcohol smoking stress. Family History A family history of high blood pressure raises the risk of developing prehypertension or high blood pressure. Some people have a high sensitivity to sodium and salt, which may increase their risk for high blood pressure and may run in families. Genetic causes of this condition are why family history is a risk factor for this condition.

What causes Binswanger's disease ?

What causes Binswanger's disease? Binswanger's disease occurs when the blood vessels that supply the deep structures of the brain become obstructed (blocked). As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. This can be caused by atherosclerosis, thromboembolism (blood clots) and other diseases such as CADASIL. Risk factors for Binswanger's disease include: Hypertension Smoking Hypercholesterolemia Heart disease Diabetes mellitus

Is STING-associated vasculopathy with onset in infancy inherited ?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, this condition likely results from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.

How to diagnose What I need to know about Kidney Stones ?

To diagnose kidney stones, your doctor will do a physical exam and ask about your medical history. The doctor may ask if you have a family history of kidney stones and about your diet, digestive problems, and other health problems. The doctor may perform urine, blood, and imaging tests to complete the diagnosis. - Urine tests can show whether you have an infection or your urine contains substances that form stones. - Blood tests can show problems that lead to kidney stones. - Imaging tests are used to find the location of kidney stones in your body. The tests may also be able to show problems that caused a kidney stone to form.

What are the symptoms of Childhood Extracranial Germ Cell Tumors ?

Signs of childhood extracranial germ cell tumors depend on the type of tumor and where it is in the body. Different tumors may cause the following signs and symptoms. Other conditions may cause these same signs and symptoms. Check with a doctor if your child has any of the following: - A lump in the abdomen or lower back. - A painless lump in the testicle. - Pain in the abdomen. - Fever. - Constipation. - In females, no menstrual periods. - In females, unusual vaginal bleeding.

What are the treatments for Amyloidosis and Kidney Disease ?

A health care provider treats dialysis-related amyloidosis with - medication therapy - newer, more effective hemodialysis filters - surgery - a kidney transplant The goal of medication therapy and the use of newer, more effective hemodialysis filters is to reduce amyloid protein levels in the blood. Medication therapy can help reduce symptoms such as pain and inflammation. A health care provider may treat a person with dialysis-related amyloidosis who has bone, joint, and tendon problems, such as bone cysts and carpal tunnel syndrome, using surgery. Dialysis-related amyloidosis has no cure; however, a successful kidney transplant may stop the disease from progressing. More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Transplantation.

What are the symptoms of Leukonychia totalis ?

What are the signs and symptoms of Leukonychia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukonychia totalis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% Adenoma sebaceum 90% Nephrolithiasis 90% Blepharitis 50% Photophobia 50% Type II diabetes mellitus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Concave nail - Leukonychia - 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.

Is infantile-onset spinocerebellar ataxia inherited ?

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.

What are the treatments for Hyperprolinemia type 2 ?

How might hyperprolinemia type 2 be treated? There is no specific treatment for hyperprolinemia type 2, even for those individuals who experience seizures. In general, if people with hyperprolinemia type 2 have symptoms, they are usually mild and do not require treatment. If seizures are present during childhood, they tend to disappear in adulthood. Attempts to reduce the amount of proline in an affected person's diet have resulted in only modest control of proline levels in the blood and have not reduced symptoms.

How many people are affected by hyperkalemic periodic paralysis ?

Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people.

What are the genetic changes related to breast cancer ?

Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. In most cases of breast cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells in the breast. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in breast cancer cells. Less commonly, gene mutations present in essentially all of the body's cells increase the risk of developing breast cancer. These genetic changes, which are classified as germline mutations, are usually inherited from a parent. In people with germline mutations, changes in other genes, together with environmental and lifestyle factors, also influence whether a person will develop breast cancer. Some breast cancers that cluster in families are associated with inherited mutations in particular genes, such as BRCA1 or BRCA2. These genes are described as "high penetrance" because they are associated with a high risk of developing breast cancer, ovarian cancer, and several other types of cancer in women who have mutations. Men with mutations in these genes also have an increased risk of developing several forms of cancer, including breast cancer. The proteins produced from the BRCA1 and BRCA2 genes are involved in fixing damaged DNA, which helps to maintain the stability of a cell's genetic information. They are described as tumor suppressors because they help keep cells from growing and dividing too fast or in an uncontrolled way. Mutations in these genes impair DNA repair, allowing potentially damaging mutations to persist in DNA. As these defects accumulate, they can trigger cells to grow and divide without control or order to form a tumor. A significantly increased risk of breast cancer is also a feature of several rare genetic syndromes. These include Cowden syndrome, which is most often caused by mutations in the PTEN gene; hereditary diffuse gastric cancer, which results from mutations in the CDH1 gene; Li-Fraumeni syndrome, which is usually caused by mutations in the TP53 gene; and Peutz-Jeghers syndrome, which typically results from mutations in the STK11 gene. The proteins produced from these genes act as tumor suppressors. Mutations in any of these genes can allow cells to grow and divide unchecked, leading to the development of a cancerous tumor. Like BRCA1 and BRCA2, these genes are considered "high penetrance" because mutations greatly increase a person's chance of developing cancer. In addition to breast cancer, mutations in these genes increase the risk of several other types of cancer over a person's lifetime. Some of the conditions also include other signs and symptoms, such as the growth of noncancerous (benign) tumors. Mutations in dozens of other genes have been studied as possible risk factors for breast cancer. These genes are described as "low penetrance" or "moderate penetrance" because changes in each of these genes appear to make only a small or moderate contribution to overall breast cancer risk. Some of these genes provide instructions for making proteins that interact with the proteins produced from the BRCA1 or BRCA2 genes. Others act through different pathways. Researchers suspect that the combined influence of variations in these genes may significantly impact a person's risk of developing breast cancer. In many families, the genetic changes associated with hereditary breast cancer are unknown. Identifying additional genetic risk factors for breast cancer is an active area of medical research. In addition to genetic changes, researchers have identified many personal and environmental factors that contribute to a person's risk of developing breast cancer. These factors include gender, age, ethnic background, a history of previous breast cancer, certain changes in breast tissue, and hormonal and reproductive factors. A history of breast cancer in closely related family members is also an important risk factor, particularly if the cancer occurred in early adulthood.

What is (are) Kidney Stones in Adults ?

Four major types of kidney stones can form: - Calcium stones are the most common type of kidney stone and occur in two major forms: calcium oxalate and calcium phosphate. Calcium oxalate stones are more common. Calcium oxalate stone formation may be caused by high calcium and high oxalate excretion. Calcium phosphate stones are caused by the combination of high urine calcium and alkaline urine, meaning the urine has a high pH. - Uric acid stones form when the urine is persistently acidic. A diet rich in purinessubstances found in animal protein such as meats, fish, and shellfishmay increase uric acid in urine. If uric acid becomes concentrated in the urine, it can settle and form a stone by itself or along with calcium. - Struvite stones result from kidney infections. Eliminating infected stones from the urinary tract and staying infection-free can prevent more struvite stones. - Cystine stones result from a genetic disorder that causes cystine to leak through the kidneys and into the urine, forming crystals that tend to accumulate into stones.

How many people are affected by hereditary neuropathy with liability to pressure palsies ?

Hereditary neuropathy with liability to pressure palsies is estimated to occur in 2 to 5 per 100,000 individuals.

What are the symptoms of Shingles ?

Burning, Itching, Tingling, Then a Rash An outbreak of shingles usually begins with a burning, itching, or tingling sensation on the back, chest, or around the rib cage or waist. It is also common for the face or eye area to be affected. (Watch the video to learn more about one woman's experience with shingles. 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.) Some people report feeling feverish and weak during the early stages. Usually within 48 to 72 hours, a red, blotchy rash develops on the affected area. The rash erupts into small blisters that look like chickenpox. The blisters seem to arrive in waves over a period of three to five days. Blisters The blisters tend to be clustered in one specific area, rather than being scattered all over the body like chickenpox. The torso or face are the parts most likely to be affected, but on occasion, shingles breaks out in the lower body. The burning sensation in the rash area is often accompanied by shooting pains. After the blisters erupt, the open sores take a week or two to crust over. The sores are usually gone within another two weeks. The pain may diminish somewhat, but it often continues for months -- and can go on for years. Pain Shingles can be quite painful. Many shingles patients say that it was the intense pain that ultimately sent them to their healthcare provider. They often report that the sensation of anything brushing across the inflamed nerve endings on the skin is almost unbearable. Diagnosis is Usually Easy for Healthcare Providers A typical shingles case is easy to diagnose. A healthcare provider might suspect shingles if - the rash is only on one side of the body - the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. the rash is only on one side of the body the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. A healthcare provider usually confirms a diagnosis of shingles if the person also - reports a sharp, burning pain - has had chickenpox - has blisters that look like chickenpox - is elderly. reports a sharp, burning pain has had chickenpox has blisters that look like chickenpox is elderly. If the Diagnosis Is Unclear Some people go to their healthcare provider because of burning, painful, itchy sensations on one area of skin, but they don't get a rash. If there is no rash, the symptoms can be difficult to diagnose because they can be mistaken for numerous other diseases. In cases where there is no rash or the diagnosis is questionable, healthcare providers can do a blood test. If there is a rash, but it does not resemble the usual shingles outbreak, a healthcare provider can examine skin scrapings from the sores.

Is benign chronic pemphigus inherited ?

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.

Is Bethlem myopathy inherited ?

How is Bethlem myopathy inherited? Bethlem myopathy is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. IN some cases, an affected person inherits the mutation from one affected parent. In rare cases, the 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.

What is (are) Ohtahara Syndrome ?

Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases cant be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres. The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as burst suppression. Doctors have observed that boys are more often affected than girls.

What are the treatments for citrullinemia ?

These resources address the diagnosis or management of citrullinemia: - Baby's First Test: Citrullinemia, Type I - Baby's First Test: Citrullinemia, Type II - Gene Review: Gene Review: Citrin Deficiency - Gene Review: Gene Review: Citrullinemia Type I - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Citrullinemia type I - Genetic Testing Registry: Citrullinemia type II - Genetic Testing Registry: Neonatal intrahepatic cholestasis caused by citrin deficiency - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality 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

Who is at risk for Prostate Cancer? ?

Prostate cancer is the most common nonskin cancer among men in the United States. Prostate cancer is found mainly in older men. Although the number of men with prostate cancer is large, most men diagnosed with this disease do not die from it. Prostate cancer causes more deaths in men than any other cancer except lung cancer and colorectal cancer. Prostate cancer occurs more often in African-American men than in white men. African-American men with prostate cancer are more likely to die from the disease than white men with prostate cancer.

What are the symptoms of Epidermolysis bullosa, lethal acantholytic ?

What are the signs and symptoms of Epidermolysis bullosa, lethal acantholytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, lethal acantholytic. 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) Abnormal blistering of the skin 90% Advanced eruption of teeth 90% Alopecia 90% Anonychia 90% Skin ulcer 90% Abnormality of the gastric mucosa 7.5% Hypertrophic cardiomyopathy 7.5% Acantholysis - Autosomal recessive inheritance - Mitten deformity - Natal tooth - Neonatal death - Phimosis - Sandal gap - Skin erosion - Tapered distal phalanges of finger - Widely spaced toes - 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 are the symptoms of Hypomagnesemia 6 ?

What are the signs and symptoms of Hypomagnesemia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 6. 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 - Headache - Hypomagnesemia - Muscle weakness - Vertigo - 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.

Is esophageal atresia/tracheoesophageal fistula inherited ?

When EA/TEF occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition. Often EA/TEF is not inherited, and there is only one affected individual in a family.

What are the symptoms of Rh Incompatibility ?

Rh incompatibility doesn't cause signs or symptoms in a pregnant woman. In a baby, the condition can lead to hemolytic anemia. Hemolytic anemia is a condition in which red blood cells are destroyed faster than the body can replace them. Red blood cells contain hemoglobin (HEE-muh-glow-bin), an iron-rich protein that carries oxygen to the body. Without enough red blood cells and hemoglobin, the baby won't get enough oxygen. Hemolytic anemia can cause mild to severe signs and symptoms in a newborn, such as jaundice and a buildup of fluid. Jaundice is a yellowish color of the skin and whites of the eyes. When red blood cells die, they release hemoglobin into the blood. The hemoglobin is broken down into a compound called bilirubin. This compound gives the skin and eyes a yellowish color. High levels of bilirubin can lead to brain damage in the baby. The buildup of fluid is a result of heart failure. Without enough hemoglobin-carrying red blood cells, the baby's heart has to work harder to move oxygen-rich blood through the body. This stress can lead to heart failure. Heart failure can cause fluid to build up in many parts of the body. When this occurs in a fetus or newborn, the condition is called hydrops fetalis (HI-drops fe-TAL-is). Severe hemolytic anemia can be fatal to a newborn at the time of birth or shortly after.

How many people are affected by Bjrnstad syndrome ?

Bjrnstad syndrome is a rare condition, although its prevalence is unknown. It has been found in populations worldwide.

What is (are) Anemia in Chronic Kidney Disease ?

You and your doctor will work together to choose a treatment that's best for you. The publications of the NIDDK Kidney Failure Series can help you learn about the specific issues you will face. Booklets - Treatment Methods for Kidney Failure: Hemodialysis - Treatment Methods for Kidney Failure: Peritoneal Dialysis - Treatment Methods for Kidney Failure: Kidney Transplantation - Kidney Failure: Eat Right to Feel Right on Hemodialysis Fact Sheets - Kidney Failure: What to Expect - Vascular Access for Hemodialysis - Treatment Methods for Kidney Failure: Hemodialysis - Hemodialysis Dose and Adequacy - Peritoneal Dialysis Dose and Adequacy - Amyloidosis and Kidney Disease - Anemia in Chronic Kidney Disease - Chronic Kidney Disease-Mineral and Bone Disorder - Financial Help for Treatment of Kidney Failure Learning as much as you can about your treatment will help make you an important member of your health care team. This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings through its clearinghouses and education programs to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by the NIDDK is carefully reviewed by NIDDK scientists and other experts. The NIDDK would like to thank: John C. Stivelman, M.D., Emory University School of Medicine; Kerri Cavanaugh, M.D., M.H.S., Vanderbilt University This information is not copyrighted. The NIDDK encourages people to share this content freely. July 2014

What are the treatments for systemic scleroderma ?

These resources address the diagnosis or management of systemic scleroderma: - Cedars-Sinai Medical Center - Genetic Testing Registry: Scleroderma, familial progressive - University of Maryland Medical Center 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

What are the complications of Biliary Atresia ?

After the Kasai procedure, some infants continue to have liver problems and, even with the return of bile flow, some infants develop cirrhosis. Possible complications after the Kasai procedure include ascites, bacterial cholangitis, portal hypertension, and pruritus. Ascites. Problems with liver function can cause fluid to build up in the abdomen, called ascites. Ascites can lead to spontaneous bacterial peritonitis, a serious infection that requires immediate medical attention. Ascites usually only lasts a few weeks. If ascites lasts more than 6 weeks, cirrhosis is likely present and the infant will probably need a liver transplant. Bacterial cholangitis. Bacterial cholangitis is an infection of the bile ducts that is treated with bacteria-fighting medications called antibiotics. Portal hypertension. The portal vein carries blood from the stomach, intestines, spleen, gallbladder, and pancreas to the liver. In cirrhosis, scar tissue partially blocks and slows the normal flow of blood, which increases the pressure in the portal vein. This condition is called portal hypertension. Portal hypertension can cause gastrointestinal bleeding that may require surgery and an eventual liver transplant. Pruritus. Pruritus is caused by bile buildup in the blood and irritation of nerve endings in the skin. Prescription medication may be recommended for pruritus, including resins that bind bile in the intestines and antihistamines that decrease the skins sensation of itching.

What is (are) atelosteogenesis type 1 ?

Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes. Individuals with atelosteogenesis type 1 typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.

What is (are) Polymyalgia Rheumatica ?

Polymyalgia rheumatica is a disorder that causes muscle pain and stiffness in your neck, shoulders, and hips. It is most common in women and almost always occurs in people over 50. The main symptom is stiffness after resting. Other symptoms include fever, weakness and weight loss. In some cases, polymyalgia rheumatica develops overnight. In others, it is gradual. The cause is not known. There is no single test to diagnose polymyalgia rheumatica. Your doctor will use your medical history, symptoms, and a physical exam to make the diagnosis. Lab tests for inflammation may help confirm the diagnosis. Polymyalgia rheumatica sometimes occurs along with giant cell arteritis, a condition that causes swelling of the arteries in your head. Symptoms include headaches and blurred vision. Doctors often prescribe prednisone, a steroid medicine, for both conditions. With treatment, polymyalgia rheumatica usually disappears in a day or two. Without treatment, it usually goes away after a year or more. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

What are the symptoms of Focal facial dermal dysplasia ?

What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal dysplasia. 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) Abnormal facial shape 90% Abnormality of the eye 90% Abnormality of the musculature 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Irregular hyperpigmentation 90% Abnormality of the eyebrow 50% Abnormality of the mouth 50% Depressed nasal bridge 50% Palpebral edema 50% Pointed chin 50% Autosomal dominant inheritance - Decreased subcutaneous fat - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

How many people are affected by oculodentodigital dysplasia ?

The exact incidence of oculodentodigital dysplasia is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed.

Is Tumor necrosis factor receptor-associated periodic syndrome inherited ?

How is tumor necrosis factor receptor-associated periodic syndrome (TRAPS) inherited? TRAPS is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. In many cases, a person with TRAPS inherits the condition from an affected parent. In other cases, the mutation occurs for the first time in the affected person and is not inherited from a parent. For unknown reasons, some people who inherit the mutated gene never develop features of TRAPS. When this occurs, a condition is said to have reduced penetrance.

What causes Russell-Silver syndrome ?

What causes Russell-Silver syndrome? Russell-Silver syndrome (RSS) is a genetic disorder that usually results from the abnormal regulation of certain genes that control growth. Two genetic causes have been found to result in the majority of cases: abnormalities at an imprinted region on chromosome 11p15 - for some genes, only the copy inherited from a person's father (paternal copy) or mother (maternal copy) is "turned on," or expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes that undergo imprinting are responsible for many cases of RSS. maternal disomy of chromosome 7 (written as matUPD7) - this occurs when a child inherits both copies of chromosome 7 from the mother, instead of one copy from the mother and one copy from the father. Other chromosome abnormalities involving any of several chromosomes have also been described as causing RSS, or RSS-like syndromes. In some people with RSS, the underlying cause remains unknown.

What are the symptoms of Florid cemento-osseous dysplasia ?

What are the signs and symptoms of Florid cemento-osseous dysplasia? Usually florid cemento-osseous dysplasia causes no signs or symptoms and is identified incidentally during a radiograph taken for some other purpose. Occasionally however, the lesions expand causing discomfort, pain, and/or mild disfigurement. The Human Phenotype Ontology provides the following list of signs and symptoms for Florid cemento-osseous dysplasia. 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 - Cementoma - Misalignment of teeth - Multiple impacted teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

How to diagnose Parasites - Trichuriasis (also known as Whipworm Infection) ?

The standard method for diagnosing the presence of whipworm is by microscopically identifying whipworm eggs in a stool sample. Because eggs may be difficult to find in light infections, a concentration procedure is recommended.

What are the symptoms of Hemophilia B ?

What are the signs and symptoms of Hemophilia B? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophilia B. 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) Abnormal bleeding - Degenerative joint disease - Gastrointestinal hemorrhage - Joint hemorrhage - Persistent bleeding after trauma - Prolonged partial thromboplastin time - Prolonged whole-blood clotting time - Reduced factor IX activity - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) N-acetylglutamate synthase deficiency ?

N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. N-acetylglutamate synthase deficiency may become evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications of N-acetylglutamate synthase deficiency may include developmental delay and intellectual disability. In some affected individuals, signs and symptoms of N-acetylglutamate synthase deficiency are less severe, and do not appear until later in life. Some people with this form of the disorder cannot tolerate high-protein foods such as meat. They may experience sudden episodes of ammonia toxicity, resulting in vomiting, lack of coordination, confusion or coma, in response to illness or other stress.

What are the genetic changes related to familial dysautonomia ?

Mutations in the IKBKAP gene cause familial dysautonomia. The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells. Nearly all individuals with familial dysautonomia have two copies of the same IKBKAP gene mutation in each cell. This mutation can disrupt how information in the IKBKAP gene is pieced together to make a blueprint for the production of IKAP protein. As a result of this error, a reduced amount of normal IKAP protein is produced. This mutation behaves inconsistently, however. Some cells produce near normal amounts of the protein, and other cellsparticularly brain cellshave very little of the protein. Critical activities in brain cells are probably disrupted by reduced amounts or the absence of IKAP protein, leading to the signs and symptoms of familial dysautonomia.

How many people are affected by rapid-onset dystonia parkinsonism ?

Rapid-onset dystonia parkinsonism appears to be a rare disorder, although its prevalence is unknown. It has been diagnosed in individuals and families from the United States, Europe, and Korea.

What are the treatments for Naegeli syndrome ?

Is there a treatment for Naegeli syndrome? Treatment for Naegeli syndrome is based on an individual's symptoms. Dry skin can be moisturized with creams. To avoid overheating, affected individuals should wear appropriate clothing and use wet dressings. Dental care is needed treat cavities and tooth loss.

What are the genetic changes related to hyperkalemic periodic paralysis ?

Mutations in the SCN4A gene can cause hyperkalemic periodic paralysis. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. One of the changes that helps trigger muscle contractions is the flow of positively charged atoms (ions), including sodium, into muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells. Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels stay open too long or do not stay closed long enough, allowing more sodium ions to flow into muscle cells. This increase in sodium ions triggers the release of potassium from muscle cells, which causes more sodium channels to open and stimulates the flow of even more sodium ions into these cells. These changes in ion transport reduce the ability of skeletal muscles to contract, leading to episodes of muscle weakness or paralysis. In 30 to 40 percent of cases, the cause of hyperkalemic periodic paralysis is unknown. Changes in other genes, which have not been identified, likely cause the disorder in these cases.

What causes Complex regional pain syndrome ?

What causes complex regional pain syndrome? The underlying cause of complex regional pain syndrome (CRPS) is not well understood. In most cases it occurs after an illness or injury that did not directly damage the nerves in the affected area (Type I). In some cases, it occurs after a specific nerve injury (Type II). The exact trigger of CRPS after an injury is not known, but it may be due to abnormal interactions between the central and peripheral nervous systems, and/or inappropriate inflammatory responses.

What are the genetic changes related to prothrombin thrombophilia ?

Prothrombin thrombophilia is caused by a particular mutation in the F2 gene. The F2 gene plays a critical role in the formation of blood clots in response to injury. The protein produced from the F2 gene, prothrombin (also called coagulation factor II), is the precursor to a protein called thrombin that initiates a series of chemical reactions in order to form a blood clot. The particular mutation that causes prothrombin thrombophilia results in an overactive F2 gene that causes too much prothrombin to be produced. An abundance of prothrombin leads to more thrombin, which promotes the formation of blood clots. Other factors also increase the risk of blood clots in people with prothrombin thrombophilia. These factors include increasing age, obesity, trauma, surgery, smoking, the use of oral contraceptives (birth control pills) or hormone replacement therapy, and pregnancy. The combination of prothrombin thrombophilia and mutations in other genes involved in blood clotting can also influence risk.

What causes Celiac Disease ?

Researchers do not know the exact cause of celiac disease. Celiac disease sometimes runs in families. In 50 percent of people who have celiac disease, a family member, when screened, also has the disease.1 A person's chances of developing celiac disease increase when his or her genestraits passed from parent to childhave variants, or changes. In celiac disease, certain gene variants and other factors, such as a person's exposure to things in his or her environment, can lead to celiac disease. Read more about genes and genetic conditions at www.ghr.nlm.nih.gov. For most people, eating something with gluten is harmless. For others, an exposure to gluten can cause, or trigger, celiac disease to become active. Sometimes surgery, pregnancy, childbirth, a viral infection, or severe emotional stress can also trigger celiac disease symptoms.

What are the treatments for lacrimo-auriculo-dento-digital syndrome ?

These resources address the diagnosis or management of lacrimo-auriculo-dento-digital syndrome: - American Academy of Ophthalmology: The Tearing Patient - Cincinnati Children's Hospital: Tear Duct Probing and Irrigation - Cleveland Clinic: Dry Eyes - Cleveland Clinic: Dry Mouth Treatment - Genetic Testing Registry: Levy-Hollister syndrome - Monroe Carell Jr. Children's Hospital at Vanderbilt: Blocked Tear Duct (Dacryostenosis) 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

What are the symptoms of High Blood Cholesterol ?

High blood cholesterol usually does not have any signs or symptoms. Many people don't know that their cholesterol levels are too high. Who Should Be Tested Everyone age 20 and older should have their cholesterol levels checked at least once every 5 years. If your cholesterol level is high, you will have to be tested more often. You and your doctor should discuss how often you should be tested. Your doctor will take a sample of blood from a vein in your arm and send it to the laboratory to find out the level of cholesterol in your blood. Cholesterol Tests The recommended test is called a fasting lipoprotein profile. It will show your - total cholesterol - LDL (bad) cholesterol, the main source of cholesterol buildup and blockage in your arteries - HDL (good) cholesterol, which helps keep cholesterol from building up in your arteries - triglycerides, another form of fat in your blood. total cholesterol LDL (bad) cholesterol, the main source of cholesterol buildup and blockage in your arteries HDL (good) cholesterol, which helps keep cholesterol from building up in your arteries triglycerides, another form of fat in your blood. You should not eat or drink anything except water or black coffee for 9 to 12 hours before taking the test. If you can't have a lipoprotein profile done, a different blood test will tell you your total cholesterol and HDL (good) cholesterol levels. You do not have to fast before this test. If this test shows that your total cholesterol is 200 mg/dL or higher, or that your HDL (good) cholesterol is less than 40 mg/dL, you will need to have a lipoprotein profile done. Cholesterol levels are measured in milligrams (mg) of cholesterol per deciliter (dL) of blood. The levels of blood cholesterol that are most important to know appear below. Ranges for Total Cholesterol Levels Here are the ranges for total cholesterol levels. Do you know how your cholesterol numbers compare? Ranges for LDL Cholesterol Levels Here are the ranges for LDL cholesterol levels. Do you know how your LDL cholesterol level compares? Ranges for HDL Cholesterol Levels Here are the ranges for HDL cholesterol levels. Do you know how your HDL cholesterol level compares? Triglyceride Levels A lipoprotein profile will also show the level of triglycerides in your blood. Triglycerides are another kind of fat that your liver makes. They can also signal an increased chance of developing heart disease. Normal levels of triglycerides are less than 150 mg/dl. If your triglyceride levels are borderline high (150-199 mg/dL) or high (200 mg/dL or more), you may need treatment. Things that can increase your triglyceride levels include - overweight - physical inactivity - cigarette smoking - excessive alcohol use - diabetes. overweight physical inactivity cigarette smoking excessive alcohol use diabetes. Other things that can increase your triglyceride levels include - a very high carbohydrate diet - certain diseases and drugs - genetic disorders. a very high carbohydrate diet certain diseases and drugs genetic disorders.