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genetic changes | What are the genetic changes related to MECP2 duplication syndrome ? | MECP2 duplication syndrome is caused by a genetic change in which there is an extra copy of the MECP2 gene in each cell. This extra copy of the MECP2 gene is caused by a duplication of genetic material on the long (q) arm of the X chromosome. The size of the duplication varies from 100,000 to 900,000 DNA building blocks (base pairs), also written as 100 to 900 kilobases (kb). The MECP2 gene is always included in this duplication, and other genes may be involved, depending on the size of the duplicated segment. Extra copies of these other genes do not seem to affect the severity of the condition, because people with larger duplications have signs and symptoms that are similar to people with smaller duplications. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. An extra copy of the MECP2 gene leads to the production of excess MeCP2 protein, which is unable to properly regulate the expression of other genes. The misregulation of gene expression in the brain results in abnormal nerve cell (neuronal) function. These neuronal abnormalities cause irregular brain activity, leading to the signs and symptoms of MECP2 duplication syndrome. |
exams and tests | How to diagnose Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ? | What are the genetic testing options for mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS)? Genetic testing for a particular condition is typically available from only a few clinical laboratories because these conditions are rare and the tests are ordered infrequently. It is not uncommon to send DNA samples to a laboratory in another state, or even to laboratories in Canada or Europe. Genetic tests are more complicated than standard blood tests and are usually much more expensive. Due to the high cost of these tests, insurance companies may or may not provide coverage. Doctors sometimes write a letter of medical necessity to the insurance company stating why a particular test is needed, which sometimes pursuades the insurance company to cover the test. These letters state the medical benefits that a person would receive from a test, and how the test would alter a person's medical care. GeneTests lists the names of laboratories that perform genetic testing. This resource lists the contact information for the clinical laboratories conducting genetic testing for MELAS. Another option is to participate in a research study that is performing genetic testing. While the cost of testing is often covered by the research funding, the tests may be more experimental and less accurate. In addition, results may not be reported to participants, or it may take a much longer time to receive any results. To access the contact information for the research laboratory performing genetic testing for mitochondrial disorders (including MELAS), click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. |
information | What is (are) Childbirth ? | When you are ready to have your baby, you'll go through labor. Contractions let you know labor is starting. When contractions are five minutes apart, your body is ready to push the baby out. During the first stage of labor, your cervix slowly opens, or dilates, to about 4 inches wide. At the same time, it becomes thinner. This is called effacement. You shouldn't push until your uterus is fully effaced and dilated. When it is, the baby delivery stage starts. Crowning is when your baby's scalp comes into view. Shortly afterward, your baby is born. The placenta that nourished the baby follows. Mothers and babies are monitored closely during labor. Most women are healthy enough to have a baby through normal vaginal delivery, meaning that the baby comes down the birth canal without surgery. If there are complications, the baby may need to be delivered surgically by a Cesarean section. Dept. of Health and Human Services Office on Women's Health |
information | What is (are) Kidney Failure: Choosing a Treatment That's Right for You ? | Chronic kidney disease means you have damaged kidneys that cannot filter blood normally. Wastes then build up in your blood, harming your body. Kidney disease usually does not get better and may lead to kidney failure. If your kidneys fail, current treatment options can help you live a longer, healthier life. Some people live with kidney disease for years without needing treatment. Others progress quickly to kidney failure. |
research | what research (or clinical trials) is being done for Stiff-Person Syndrome ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to SPS in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. A study using the drug rituximab proved ineffective in treating individuals with the disorder. Current research is focused on understanding the cause of the disease and the role of the anti-GAD antibodies. |
information | What is (are) Stickler syndrome type 1 ? | Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner. |
symptoms | What are the symptoms of ABCD syndrome ? | What are the signs and symptoms of ABCD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ABCD 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) Abnormal auditory evoked potentials - Aganglionic megacolon - Albinism - Autosomal recessive inheritance - Hearing impairment - Hypopigmentation of the fundus - Large for gestational age - 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. |
inheritance | Is core binding factor acute myeloid leukemia inherited ? | CBF-AML is not inherited but arises from genetic rearrangements in the body's cells that occur after conception. |
information | What is (are) Tropical Spastic Paraparesis ? | For several decades the term tropical spastic paraparesis (TSP) has been used to describe a chronic and progressive disease of the nervous system that affects adults living in equatorial areas of the world and causes progressive weakness, stiff muscles, muscle spasms, sensory disturbance, and sphincter dysfunction. The cause of TSP was obscure until the mid-1980s, when an important association was established between the human retrovirus human T-cell lymphotrophic virus type 1 (also known as HTLV-1) and TSP. TSP is now called HTLV-1 associated myelopathy/ tropical spastic paraparesis or HAM/TSP. The HTLV-1 retrovirus is thought to cause at least 80 percent of the cases of HAM/TSP by impairing the immune system. In addition to neurological symptoms of weakness and muscle stiffness or spasms, in rare cases individuals with HAM/TSP also exhibit uveitis (inflammation of the uveal tract of the eye), arthritis (inflammation of one or more joints), pulmonary lymphocytic alveolitis (inflammation of the lung), polymyositis (an inflammatory muscle disease), keratoconjunctivitis sicca (persistent dryness of the cornea and conjunctiva), and infectious dermatitis (inflammation of the skin). The other serious complication of HTLV-1 infection is the development of adult T-cell leukemia or lymphoma. Nervous system and blood-related complications occur only in a very small proportion of infected individuals, while most remain largely without symptoms throughout their lives.
The HTLV-1 virus is transmitted person-to-person via infected cells: breast-feeding by mothers who are seropositive (in other words, have high levels of virus antibodies in their blood), sharing infected needles during intravenous drug use, or having sexual relations with a seropositive partner. Less than 2 percent of HTLV-1 seropositive carriers will become HAM/TSP patients. |
treatment | What are the treatments for Juvenile Myelomonocytic Leukemia ? | Treatment of juvenile myelomonocytic leukemia (JMML) may include the following: - Combination chemotherapy. - Stem cell transplant. - 13-cis-retinoic acid therapy. - A clinical trial of a new treatment, such as targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with juvenile myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. |
information | What is (are) Split hand split foot malformation autosomal recessive ? | Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. |
frequency | How many people are affected by Dowling-Degos disease ? | Dowling-Degos disease appears to be a rare condition, although its prevalence is unknown. |
information | What is (are) hypomagnesemia with secondary hypocalcemia ? | Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia). Hypomagnesemia impairs the function of the parathyroid glands, which are small hormone-producing glands located in the neck. Normally, the parathyroid glands release a hormone that increases blood calcium levels when they are low. Magnesium is required for the production and release of parathyroid hormone, so when magnesium is too low, insufficient parathyroid hormone is produced and blood calcium levels are also reduced (hypocalcemia). The hypocalcemia is described as "secondary" because it occurs as a consequence of hypomagnesemia. Shortages of magnesium and calcium can cause neurological problems that begin in infancy, including painful muscle spasms (tetany) and seizures. If left untreated, hypomagnesemia with secondary hypocalcemia can lead to developmental delay, intellectual disability, a failure to gain weight and grow at the expected rate (failure to thrive), and heart failure. |
symptoms | What are the symptoms of Nephrotic Syndrome in Adults ? | In addition to proteinuria, hyperlipidemia, edema, and hypoalbumina, people with nephrotic syndrome may experience
- weight gain - fatigue - foamy urine - loss of appetite |
inheritance | Is mal de Meleda 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. |
information | What is (are) Machado-Joseph Disease ? | Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. Almost all individuals with MJD experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements. |
inheritance | Is congenital stromal corneal dystrophy 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. |
treatment | What are the treatments for beta thalassemia ? | These resources address the diagnosis or management of beta thalassemia: - Gene Review: Gene Review: Beta-Thalassemia - Genetic Testing Registry: Beta-thalassemia, dominant inclusion body type - Genetic Testing Registry: beta Thalassemia - MedlinePlus Encyclopedia: Thalassemia 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 |
frequency | How many people are affected by Cole disease ? | Cole disease is a rare disease; its prevalence is unknown. Only a few affected families have been described in the medical literature. |
symptoms | What are the symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome ? | What are the signs and symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly arthropathy coxa vara pericarditis 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) Arthritis - Arthropathy - Autosomal recessive inheritance - Congenital finger flexion contractures - Constrictive pericarditis - Coxa vara - Flattened metacarpal heads - Flattened metatarsal heads - Generalized morning stiffness - Synovial hypertrophy - Wrist flexion contracture - 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. |
symptoms | What are the symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ? | What are the signs and symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness. 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) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - 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. |
inheritance | Is Caffey disease inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is usually sufficient to cause the disorder. About 20 percent of people who have the mutation that causes Caffey disease do not experience its signs or symptoms; this phenomenon is called incomplete penetrance. In some cases, an affected person inherits the mutation that causes Caffey disease from a parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. |
information | What is (are) Albright's hereditary osteodystrophy ? | Albright's hereditary osteodystrophy is a syndrome with a wide range of manifestations including short stature, obesity, round face, subcutaneous (under the skin) ossifications (gradual replacement of cartilage by bone), and characteristic shortening and widening of the bones in the hands and feet (brachydactyly). The features of Albright's hereditary osteodystrophy are associated with resistance to parathyroid hormone (pseudohypoparathyroidism) and to other hormones (thyroid-stimulation hormone, in particular). This autosomal dominantly inherited condition is caused by mutations in the GNAS gene. Treatment consists of calcium and vitamin D supplements. |
frequency | How many people are affected by cap myopathy ? | Cap myopathy is a rare disorder that has been identified in only a small number of individuals. Its exact prevalence is unknown. |
treatment | What are the treatments for lissencephaly with cerebellar hypoplasia ? | These resources address the diagnosis or management of lissencephaly with cerebellar hypoplasia: - Genetic Testing Registry: Lissencephaly 2 - Genetic Testing Registry: Lissencephaly 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) Familial hemiplegic migraine type 1 ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene. |
inheritance | Is harlequin ichthyosis 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. |
inheritance | Is Mowat-Wilson syndrome inherited ? | How is Mowat-Wilson inherited? Mowat-Wilson syndrome is 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 of Mowat-Wilson syndrome result 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. |
symptoms | What are the symptoms of Marinesco-Sjogren syndrome ? | What are the signs and symptoms of Marinesco-Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marinesco-Sjogren 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 genital system 90% Aplasia/Hypoplasia of the cerebellum 90% Cataract 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Myopathy 90% Neurological speech impairment 90% Short stature 90% Strabismus 90% Abnormality of movement 50% Abnormality of the hip bone 50% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Hypertonia 50% Muscle weakness 50% Nystagmus 50% Pectus carinatum 50% Scoliosis 50% Skeletal muscle atrophy 50% Talipes 50% Microcephaly 7.5% Optic atrophy 7.5% Peripheral neuropathy 7.5% Autosomal recessive inheritance - Centrally nucleated skeletal muscle fibers - Cerebellar cortical atrophy - Congenital cataract - Coxa valga - Cubitus valgus - Dysarthria - Elevated serum creatine phosphokinase - Failure to thrive - Flexion contracture - Gait ataxia - Hypergonadotropic hypogonadism - Infantile onset - Intellectual disability - Kyphosis - Limb ataxia - Pes planus - Progressive muscle weakness - Short metacarpal - Short metatarsal - Spasticity - 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. |
exams and tests | How to diagnose Diabetic mastopathy ? | How is diabetic mastopathy diagnosed? The diagnosis of diabetic mastopathy should be considered in patients with long-standing insulin-dependent diabetes and a firm, mobile breast mass. Initial imaging may include mammography and ultrasound. While these methods can help to further differentiate the mass, they cannot provide a specific diagnosis of diabetic mastopathy with confident exclusion of malignancy. Magnetic resonance imaging (MRI) is unlikely to add additional information. Current practice dictates that a core biopsy (utilizing a needle to remove a small cylinder of tissue) be performed for a definitive diagnosis. Biopsy results demonstrate lymphocytic lobulitis and ductitis, glandular atrophy (wasting), perivascular inflammation (vasculitis), dense keloid fibrosis (scarring), and epithelioid fibroblasts. |
frequency | How many people are affected by idiopathic inflammatory myopathy ? | The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 cases per million people each year. For unknown reasons, polymyositis and dermatomyositis are about twice as common in women as in men, while sporadic inclusion body myositis is more common in men. |
information | What is (are) Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ? | Acanthamoeba is a microscopic, free-living ameba (single-celled living organism) commonly found in the environment that can cause rare, but severe, illness. Acanthamoeba causes three main types of illness involving the eye (Acanthamoeba keratitis), the brain and spinal cord (Granulomatous Encephalitis), and infections that can spread throughout the entire body (disseminated infection). |
exams and tests | How to diagnose Osteoporosis ? | Diagnosing osteoporosis involves several steps, starting with a physical exam and a careful medical history, blood and urine tests, and possibly a bone mineral density assessment. When recording information about your medical history, your doctor will ask questions to find out whether you have risk factors for osteoporosis and fractures. The doctor may ask about - any fractures you have had - your lifestyle (including diet, exercise habits, and whether you smoke) - current or past health problems - medications that could contribute to low bone mass and increased fracture risk - your family history of osteoporosis and other diseases - for women, your menstrual history. any fractures you have had your lifestyle (including diet, exercise habits, and whether you smoke) current or past health problems medications that could contribute to low bone mass and increased fracture risk your family history of osteoporosis and other diseases for women, your menstrual history. |
information | What is (are) Alcohol Use and Older Adults ? | Blood alcohol concentration (BAC) measures the percentage of ethanolthe chemical name for alcohol in alcoholic beveragesin a persons blood. As you drink, you increase your blood alcohol concentration (BAC) level. The higher the BAC, the more impaired a person is. In all states, it is against the law for people to drive if their blood alcohol concentration is above .08. The effects of increased blood alcohol levels can include - reduced inhibitions - slurred speech - motor impairment - confusion - memory problems - concentration problems - coma - breathing problems - death. reduced inhibitions slurred speech motor impairment confusion memory problems concentration problems coma breathing problems death. Learn more about the risks of alcohol overdose. |
frequency | How many people are affected by tetra-amelia syndrome ? | Tetra-amelia syndrome has been reported in only a few families worldwide. |
prevention | How to prevent Respiratory Distress Syndrome ? | Taking steps to ensure a healthy pregnancy might prevent your infant from being born before his or her lungs have fully developed. These steps include:
Seeing your doctor regularly during your pregnancy
Following a healthy diet
Avoiding tobacco smoke, alcohol, and illegal drugs
Managing any medical conditions you have
Preventing infections
If you're having a planned cesarean delivery (C-section), your doctor can do tests before delivery to show whether it's likely that your baby's lungs are fully developed. These tests assess the age of the fetus or lung maturity.
Your doctor may give you injections of a corticosteroid medicine if he or she thinks you may give birth too early. This medicine can speed up surfactant production and development of the lungs, brain, and kidneys in your baby.
Treatment with corticosteroids can reduce your baby's risk of respiratory distress syndrome (RDS). If the baby does develop RDS, it will probably be fairly mild.
Corticosteroid treatment also can reduce the chances that your baby will have bleeding in the brain. |
exams and tests | How to diagnose Chronic Lymphocytic Leukemia ? | Tests that examine the blood, bone marrow, and lymph nodes are used to detect (find) and diagnose chronic lymphocytic leukemia. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - Immunophenotyping : A laboratory test in which the antigens or markers on the surface of a blood or bone marrow cell are checked to see if they are lymphocytes or myeloid cells. If the cells are malignant lymphocytes (cancer), they are checked to see if they are B lymphocytes or T lymphocytes. - FISH (fluorescence in situ hybridization): A laboratory technique used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA bind to specific genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - IgVH gene mutation test: A laboratory test done on a bone marrow or blood sample to check for an IgVH gene mutation. Patients with an IgVH gene mutation have a better prognosis. - 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 abnormal cells. |
inheritance | Is Apert syndrome inherited ? | Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from new mutations in the gene, and occur in people with no history of the disorder in their family. Individuals with Apert syndrome, however, can pass along the condition to the next generation. |
information | What is (are) congenital diaphragmatic hernia ? | Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth. In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons. Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare. |
information | What is (are) Early-onset, autosomal dominant Alzheimer disease ? | Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. The early-onset, autosomal dominant form of AD is caused by changes (mutations) one of three different genes: APP, PSEN1, and PSEN2. The condition is inherited in an autosomal dominant manner. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person. |
information | Do you have information about Pacemakers and Implantable Defibrillators | Summary : An arrhythmia is any disorder of your heart rate or rhythm. It means that your heart beats too quickly, too slowly, or with an irregular pattern. Most arrhythmias result from problems in the electrical system of the heart. If your arrhythmia is serious, you may need a cardiac pacemaker or an implantable cardioverter defibrillator (ICD). They are devices that are implanted in your chest or abdomen. A pacemaker helps control abnormal heart rhythms. It uses electrical pulses to prompt the heart to beat at a normal rate. It can speed up a slow heart rhythm, control a fast heart rhythm, and coordinate the chambers of the heart. An ICD monitors heart rhythms. If it senses dangerous rhythms, it delivers shocks. This treatment is called defibrillation. An ICD can help control life-threatening arrhythmias, especially those that can cause sudden cardiac arrest (SCA). Most new ICDs can act as both a pacemaker and a defibrillator. Many ICDs also record the heart's electrical patterns when there is an abnormal heartbeat. This can help the doctor plan future treatment. Getting a pacemaker or ICD requires minor surgery. You usually need to stay in the hospital for a day or two, so your doctor can make sure that the device is working well. You will probably be back to your normal activities within a few days. |
symptoms | What are the symptoms of Hirschsprung disease polydactyly heart disease ? | What are the signs and symptoms of Hirschsprung disease polydactyly heart disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease polydactyly heart disease. 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) Aganglionic megacolon - Autosomal recessive inheritance - Polysyndactyly of hallux - Preaxial foot polydactyly - Ventricular septal defect - 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. |
genetic changes | What are the genetic changes related to familial isolated hyperparathyroidism ? | Familial isolated hyperparathyroidism can be caused by mutations in the MEN1, CDC73, or CASR gene. The MEN1 gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way. In familial isolated hyperparathyroidism, MEN1 gene mutations result in an altered menin protein that is no longer able to control cell growth and division. The resulting increase in cell proliferation leads to the formation of an adenoma involving one or more parathyroid glands. Overproduction of parathyroid hormone from these abnormal glands stimulates the release of excess calcium into the blood, leading to the signs and symptoms of familial isolated hyperparathyroidism. It is unclear why this condition affects only the parathyroid glands. The CDC73 gene provides instructions for making the parafibromin protein, which is also thought to act as a tumor suppressor. Parafibromin is likely involved in regulating the activity of other genes (gene transcription) and in cell proliferation. CDC73 gene mutations that cause familial isolated hyperparathyroidism likely result in decreased activity of the parafibromin protein. The loss of parafibromin's tumor suppressor function can lead to the development of parathyroid adenoma or, rarely, parathyroid carcinoma. The CASR gene provides instructions for producing a protein called the calcium-sensing receptor (CaSR), which helps regulate the amount of calcium in the body, in part by controlling the production of parathyroid hormone. Calcium molecules attach (bind) to CaSR, turning on (activating) the receptor. When calcium binds to the CaSR protein in cells of the parathyroid gland, the activated receptor sends signals that block the production and release of parathyroid hormone. Without parathyroid hormone, calcium is not released into the blood. CASR gene mutations associated with familial isolated hyperparathyroidism lead to the production of a less sensitive CaSR that requires an abnormally high concentration of calcium to trigger signaling. As a result, parathyroid hormone is produced even when the concentration of calcium in the blood is elevated, allowing the calcium levels to continue to rise. A small number of individuals with CASR-related familial isolated hyperparathyroidism have enlarged parathyroid glands, and overproduction of parathyroid hormone from these abnormal glands further contributes to the elevated calcium levels in the bloodstream. The excess calcium causes the characteristic features of this condition. Mutations in the MEN1 gene and the CDC73 gene are involved in other conditions in which hyperparathyroidism is just one of many features. However, some people with mutations in these genes have only signs and symptoms related to hyperparathyroidism (isolated hyperparathyroidism) without the additional features of these other conditions. While some individuals later develop additional signs and symptoms of the other conditions, others do not. Familial isolated hyperparathyroidism may be a milder variant or early form of the other conditions. In many individuals with the signs and symptoms of familial isolated hyperparathyroidism, a mutation in the MEN1, CDC73, or CASR gene has not been identified, indicating that other genes may be involved in this condition. The genetic cause of these cases is unknown. |
treatment | What are the treatments for Kidney Dysplasia ? | If the condition is limited to one kidney and the baby has no signs of kidney dysplasia, no treatment may be necessary. However, the baby should have regular checkups that include
- checking blood pressure. - testing blood to measure kidney function. - testing urine for albumin, a protein most often found in blood. Albumin in the urine may be a sign of kidney damage. - performing periodic ultrasounds to monitor the damaged kidney and to make sure the functioning kidney continues to grow and remains healthy. |
treatment | What are the treatments for hyperlysinemia ? | These resources address the diagnosis or management of hyperlysinemia: - Genetic Testing Registry: Hyperlysinemia - Genetic Testing Registry: Saccharopinuria 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 |
exams and tests | How to diagnose Diagnosis of Diabetes and Prediabetes ? | Health care providers test for gestational diabetes using the OGTT. Women may be tested during their first visit to the health care provider after becoming pregnant or between 24 to 28 weeks of pregnancy depending on their risk factors and symptoms. Women found to have diabetes at the first visit to the health care provider after becoming pregnant may be diagnosed with type 2 diabetes.
Defining Safe Blood Glucose Levels for Pregnancy
Many studies have shown that gestational diabetes can cause complications for the mother and baby. An international, multicenter study, the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study, showed that the higher a pregnant womans blood glucose is, the higher her risk of pregnancy complications. The HAPO researchers found that pregnancy complications can occur at blood glucose levels that were once considered to be normal.
Based on the results of the HAPO study, new guidelines for diagnosis of gestational diabetes were recommended by the International Association of the Diabetes and Pregnancy Study Groups in 2011. So far, the new guidelines have been adopted by the American Diabetes Association (ADA)3 but not by the American College of Obstetricians and Gynecologists (ACOG)4 or other medical organizations. Researchers estimate these new guidelines, if widely adopted, will increase the proportion of pregnant women diagnosed with gestational diabetes to nearly 18 percent.5
Both ADA and ACOG guidelines for using the OGTT in diagnosing gestational diabetes are shown in the following tables.
Recommendations for Testing Pregnant Women for Diabetes
Time of testing ACOG ADA At first visit during pregnancy No recommendation Test women with risk factors for diabetes using standard testing for diagnosis of type 2 diabetes. Women found to have diabetes at this time should be diagnosed with type 2 diabetes, not gestational diabetes. At 24 to 28 weeks of pregnancy Test women for diabetes based on their history, risk factors, or a 50-gram, 1-hour, nonfasting, glucose challenge testa modified OGTT. If score is 130140 mg/dL, test again with fasting, 100-gram, 3-hour OGTT.* Test all women for diabetes who are not already diagnosed, using a fasting, 75-gram, 2-hour OGTT.*
OGTT Levels for Diagnosis of Gestational Diabetes
Time of Sample Collection ACOG Levels**,4 (mg/dL) ADA Levels3(mg/dL) 100-gram Glucose Drink 75-gram Glucose Drink Fasting, before drinking glucose 95 or above 92 or above 1 hour after drinking glucose 180 or above 180 or above 2 hours after drinking glucose 155 or above 153 or above 3 hours after drinking glucose 140 or above Not used Requirements for Diagnosis TWO or more of the above levels must be met ONE or more of the above levels must be met
More information about treating gestational diabetes is provided in the NIDDK health topic, What I need to know about Gestational Diabetes, or by calling 18008608747. |
information | What is (are) Chordoma ? | A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. Chordomas can occur anywhere along the spine. Approximately half of all chordomas occur at the base of the spine; approximately one third occur at the base of the skull. Chordomas grow slowly, extending gradually into the surrounding bone and soft tissue. The actual symptoms depend on the location of the chordoma. A chordoma at the base of the skull may lead to double vision and headaches. A chordoma that occurs at the base of the spine may cause problems with bladder and bowel function. Chordomas typically occur in adults between the ages of 40 and 70. In many cases, the cause of the chordoma remains unknown. Recent studies have shown that changes in the T gene have been associated with chordoma in a small set of families. In these families an inherited duplication of the T gene is associated with an increased risk of developing chordoma. People with this inherited duplication inherit an increased risk for the condition, not the condition itself. |
susceptibility | 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. |
treatment | What are the treatments for Ankylosing spondylitis ? | How might ankylosing spondylitis be treated? The main goal of treatment for people with ankylosing spondylitis (AS) is to maximize long-term quality of life. This may involve easing symptoms of pain and stiffness; retaining function; preventing complications (such as contractures); and minimizing the effects of associated conditions. Education, exercise, and medications are all very important in managing AS. An exercise program is recommended for all affected people, and some may need individual physical therapy. Affected people are encouraged to speak with their health care provider before instituting any changes to an exercise regime. Video demonstrations of exercises tailored for ankylosing spondylitis are available for viewing through the National Ankylosing Spondylitis Society in the UK. Medications may include nonsteroidal anti-inflammatory drugs (NSAIDs); pain relievers; sulfasalazine; and anti-tumor necrosis factor drugs. Steroid injections may be helpful for some people. Most people don't need surgery, but it may be indicated when there is severe, persistent pain or severe limitation in mobility and quality of life. Smoking creates additional problems for people with AS, so affected people who smoke should quit. More detailed information about the treatment of ankylosing spondylitis is available on Medscape's Web site. You may need to register to view the article, but registration is free. |
information | What is (are) Catecholaminergic polymorphic ventricular tachycardia ? | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. Signs and symptoms include light-headedness, dizziness, and fainting. Symptoms most often develop between 7 to 9 years of age. If untreated CPVT can cause a heart attack and death. CPVT is caused by mutations in the RYR2 or CASQ2 genes. When a RYR2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. When CASQ2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. In some cases the underlying cause can not be determined. Beta blockers are used to treat CPVT. An Implantable Cardioverter Defibrillator (ICD) may also be needed. |
prevention | How to prevent Diabetic Kidney Disease ? | People can prevent or slow the progression of diabetic kidney disease by
- taking medications to control high blood pressure - managing blood glucose levels - making changes in their eating, diet, and nutrition - losing weight if they are overweight or obese - getting regular physical activity
People with diabetes should see a health care provider who will help them learn to manage their diabetes and monitor their diabetes control. Most people with diabetes get care from primary care providers, including internists, family practice doctors, or pediatricians. However, having a team of health care providers can often improve diabetes care. In addition to a primary care provider, the team can include
- an endocrinologista doctor with special training in diabetes - a nephrologista doctor who specializes in treating people who have kidney problems or related conditions - diabetes educators such as a nurse or dietitian - a podiatrista doctor who specializes in foot care - an ophthalmologist or optometrist for eye care - a pharmacist - a dentist - a mental health counselor for emotional support and access to community resources
The team can also include other health care providers and specialists.
Blood Pressure Medications
Medications that lower blood pressure can also significantly slow the progression of kidney disease. Two types of blood pressure-lowering medications, angiotensinconverting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have been shown to slow the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or an ARB, a health care provider may prescribe a diuretica medication that helps the kidneys remove fluid from the blood. A person may also need beta-blockers, calcium channel blockers, and other blood pressure medications.
People should talk with their health care provider about their individual blood pressure goals and how often they should have their blood pressure checked.
Managing Blood Glucose Levels
People manage blood glucose levels by
- testing blood glucose throughout the day - following a diet and physical activity plan - taking insulin throughout the day based on food and liquid intake and physical activity
People with diabetes need to talk with their health care team regularly and follow their directions closely. The goal is to keep blood glucose levels within the normal range or within a range set by the persons health care team. More information about diabetes is provided in the NIDDK health topics:
- National Diabetes Statistics Report, 2014 - Diagnosis of Diabetes and Prediabetes
Eating, Diet, and Nutrition
Following a healthy eating plan can help lower blood pressure and control blood sugar. A health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan. DASH focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and lower in sodium, which often comes from salt. The DASH eating plan
- is low in fat and cholesterol - features fat-free or low-fat milk and dairy products, fish, poultry, and nuts - suggests less red meat, and fewer sweets, added sugars, and sugarcontaining beverages - is rich in nutrients, protein, and fiber
Read more about DASH at www.nhlbi.nih.gov/health/health-topics/topics/dash.
People with diabetic kidney disease may need to limit sodium and salt intake to help reduce edema and lower blood pressure. A dietitian may also recommend a diet low in saturated fat and cholesterol to help control high levels of lipids, or fats, in the blood.
Health care providers may recommend that people with CKD eat moderate or reduced amounts of protein, though the benefits of reducing protein in a persons diet are still being researched. Proteins break down into waste products the kidneys must filter from the blood. Eating more protein than the body needs may burden the kidneys and cause kidney function to decline faster. However, protein intake that is too low may lead to malnutrition, a condition that occurs when the body does not get enough nutrients. More information about diabetes and diet is provided in the NIDDK health topics:
- What I need to know about Eating and Diabetes and What I need to know about Carbohydrate Counting and Diabetes - Make the Kidney Connection: Food Tips and Healthy Eating Ideas and Eating Right for Kidney Health: Tips for People with Chronic Kidney Disease.
Weight Loss and Physical Activity
Health care providers recommend that people who are overweight or obese lose weight to improve their bodies ability to use insulin properly and lower their risk for health problems related to high blood pressure. Overweight is defined as a body mass index (BMI)a measurement of weight in relation to heightof 25 to 29. A BMI of 30 or higher is considered obese. People should aim to keep their BMI lower than 25.4
Experts recommend physical activity as an important part of losing weight, keeping sensitivity to insulin, and treating high blood pressure. Most people should try to get at least 30 to 60 minutes of activity most or all days of the week. A person can do all physical activity at once or break up activities into shorter periods of at least 10 minutes each. Moderate activities include brisk walking, dancing, bowling, riding a bike, working in a garden, and cleaning the house. More information is provided in the NIDDK health topic, What I need to know about Physical Activity and Diabetes. |
information | What is (are) Esophageal Cancer ? | The esophagus is a hollow tube that carries food and liquids from your throat to your stomach. Early esophageal cancer usually does not cause symptoms. Later, you may have symptoms such as - Painful or difficult swallowing - Weight loss - A hoarse voice or cough that doesn't go away You're at greater risk for getting esophageal cancer if you smoke, drink heavily, or have acid reflux. Your risk also goes up as you age Your doctor uses imaging tests and a biopsy to diagnose esophageal cancer. Treatments include surgery, radiation, and chemotherapy. You might also need nutritional support, since the cancer or treatment may make it hard to swallow. NIH: National Cancer Institute |
treatment | What are the treatments for medullary cystic kidney disease type 1 ? | These resources address the diagnosis or management of medullary cystic kidney disease type 1: - MedlinePlus Encyclopedia: Medullary Cystic Kidney Disease - Merck Manual for Health Care Professionals: Nephronophthisis and Medullary Cystic Kidney Disease Complex 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 |
exams and tests | How to diagnose Lichen planus pigmentosus ? | How is lichen planus pigmentosus diagnosed? A diagnosis of lichen planus pigmentosus is usually suspected based on the presence of characteristic signs and symptoms. A skin biopsy may then be ordered to confirm the diagnosis. |
information | What is (are) Cerebral Hypoxia ? | Cerebral hypoxia refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow. Drowning, strangling, choking, suffocation, cardiac arrest, head trauma, carbon monoxide poisoning, and complications of general anesthesia can create conditions that can lead to cerebral hypoxia. Symptoms of mild cerebral hypoxia include inattentiveness, poor judgment, memory loss, and a decrease in motor coordination. Brain cells are extremely sensitive to oxygen deprivation and can begin to die within five minutes after oxygen supply has been cut off. When hypoxia lasts for longer periods of time, it can cause coma, seizures, and even brain death. In brain death, there is no measurable activity in the brain, although cardiovascular function is preserved. Life support is required for respiration. |
treatment | What are the treatments for frontotemporal dementia with parkinsonism-17 ? | These resources address the diagnosis or management of FTDP-17: - Gene Review: Gene Review: MAPT-Related Disorders - Genetic Testing Registry: Frontotemporal dementia 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 |
treatment | What are the treatments for Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ? | The sulfone dapsone can provide immediate relief of symptoms. For patients who cannot tolerate dapsone, sulfapyridine or sulfamethoxypyridazine may be used, although these medications are less effective than dapsone. A strict gluten-free diet is the only treatment for the underlying disease. Even with a gluten-free diet, medication therapy may need to be continued from a few months to 2 years.
DH can go into remission, which is defined as absence of skin lesions and symptoms of DH for more than 2 years while not taking sulfones or other treatments and not adhering to a gluten-free diet. Cohort studies showing DH remission provide support for reducing sulfone therapy and weaning from a gluten-free diet in patients with well-controlled DH.6 |
inheritance | Is phosphoribosylpyrophosphate synthetase superactivity inherited ? | This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes the disorder. In most reported cases, affected individuals have inherited the mutation from a parent who carries an altered copy of the PRPS1 gene. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. PRS superactivity may also result from new mutations in the PRPS1 gene and can occur in people with no history of the disorder in their family. |
treatment | What are the treatments for Netherton syndrome ? | These resources address the diagnosis or management of Netherton syndrome: - Genetic Testing Registry: Netherton syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
causes | What causes Afibrinogenemia ? | What causes afibrinogenemia? Afibrinogenemia is caused by a severe lack of fibrinogen (coagulation factor I), a protein in the blood that is essential in the blood clotting (coagulation) process. This defect in fibrinogen synthesis can result from mutations in one or another of the fibrinogen genes alpha (FGA), beta (FGB) or gamma (FGG). |
information | What is (are) Clear cell renal cell carcinoma ? | Clear cell renal cell carcinoma is a cancer of the kidney. The name "clear cell" refers to the appearance of the cancer cells when viewed with a microscope.[5258] Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). Though the exact cause of clear cell renal cell carcinoma is unknown, smoking, the excessive use of certain medications, and several genetic predisposition conditions (such as von Hippel Lindau syndrome) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy. |
information | What is (are) Farber lipogranulomatosis ? | Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features. Type 1 is the most common, or classical, form of this condition and is associated with the classic signs of voice, skin, and joint problems that begin a few months after birth. Developmental delay and lung disease also commonly occur. Infants born with type 1 Farber lipogranulomatosis usually survive only into early childhood. Types 2 and 3 generally have less severe signs and symptoms than the other types. Affected individuals have the three classic signs and usually do not have developmental delay. Children with these types of Farber lipogranulomatosis typically live into mid- to late childhood. Types 4 and 5 are associated with severe neurological problems. Type 4 usually causes life-threatening health problems beginning in infancy due to massive lipid deposits in the liver, spleen, lungs, and immune system tissues. Children with this type typically do not survive past their first year of life. Type 5 is characterized by progressive decline in brain and spinal cord (central nervous system) function, which causes paralysis of the arms and legs (quadriplegia), seizures, loss of speech, involuntary muscle jerks (myoclonus), and developmental delay. Children with type 5 Farber lipogranulomatosis survive into early childhood. Types 6 and 7 are very rare, and affected individuals have other associated disorders in addition to Farber lipogranulomatosis. |
treatment | What are the treatments for desmoid tumor ? | These resources address the diagnosis or management of desmoid tumor: - Dana-Farber Cancer Institute - Desmoid Tumor Research Foundation: About Desmoid Tumors - Genetic Testing Registry: Desmoid disease, hereditary 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 |
information | What is (are) Diabetic Retinopathy ? | Diabetic retinopathy is a complication of diabetes and a leading cause of blindness. It occurs when diabetes damages the tiny blood vessels inside the retina, the light-sensitive tissue at the back of the eye. A healthy retina is necessary for good vision. If you have diabetic retinopathy, at first you may notice no changes to your vision. But over time, diabetic retinopathy can get worse and cause vision loss. Diabetic retinopathy usually affects both eyes. See this graphic for a quick overview of diabetic eye disease, including how many people it affects, whos at risk, what to do if you have it, and how to learn more. |
considerations | What to do for Sexual and Urologic Problems of Diabetes ? | The nerve damage of diabetes may cause sexual or urologic problems.
- Sexual problems in men with diabetes include - erectile dysfunction - retrograde ejaculation - Sexual problems in women with diabetes include - decreased vaginal lubrication and uncomfortable or painful intercourse - decreased or no sexual desire - decreased or absent sexual response - Urologic problems in men and women with diabetes include - bladder problems related to nerve damage, such as overactive bladder, poor control of sphincter muscles, and urine retention - urinary tract infections - Controlling diabetes through diet, physical activity, and medications as needed can help prevent sexual and urologic problems. - Treatment is available for sexual and urologic problems. |
treatment | What are the treatments for Guttate psoriasis ? | How might guttate psoriasis be treated? The goal of treatment is to control the symptoms and prevent secondary infections. Mild cases of guttate psoriasis are usually treated at home. The following may be recommended: Cortisone (anti-itch and anti-inflammatory) cream Dandruff shampoos (over-the-counter or prescription) Lotions that contain coal tar Moisturizers Prescription medicines containing vitamin D or vitamin A (retinoids) People with very severe guttate psoriasis may take medicines to suppress the body's immune system. These medicines include corticosteroids, cyclosporine, and methotrexate. Sunlight may help some symptoms go away. Care should be taken to avoid sunburn. Some people may choose to have phototherapy. Phototherapy is a medical procedure in which the skin is carefully exposed to ultraviolet light. Phototherapy may be given alone or after taking a drug that makes the skin more sensitive to light. More detailed information related to the treatment of psoriasis can be accessed through Medscape Reference. The National Psoriasis Foundation can also provide you with information on treatment. |
causes | What causes Tracheobronchopathia osteoplastica ? | What causes tracheobronchopathia osteoplastica? The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown. Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. Numerous cases have been reported in association with different conditions including allergic rhinitis. However, no theories have been validated. There is no known genetic susceptibility to the development of TO. |
prevention | How to prevent Shingles ? | A Vaccine for Adults 60 and Older In May 2006, the U.S. Food and Drug Administration approved a vaccine (Zostavax) to prevent shingles in people age 60 and older. The vaccine is designed to boost the immune system and protect older adults from getting shingles later on. Even if you have had shingles, you can still get the shingles vaccine to help prevent future occurrences of the disease. There is no maximum age for getting the vaccine, and only a single dose is recommended. In a clinical trial involving thousands of adults 60 years old or older, the vaccine reduced the risk of shingles by about half. A One-time Dose To reduce the risk of shingles, adults 60 years old or older should talk to their healthcare professional about getting a one-time dose of the shingles vaccine. Even if the shingles vaccine doesnt prevent you from getting shingles, it can still reduce the chance of having long-term pain. If you have had shingles before, you can still get the shingles vaccine to help prevent future occurrences of the disease. There is no maximum age for getting the vaccine. Side Effects Vaccine side effects are usually mild and temporary. In most cases, shingles vaccine causes no serious side effects. Some people experience mild reactions that last up to a few days, such as headache or redness, soreness, swelling, or itching where the shot was given. When To Get the Vaccine The decision on when to get vaccinated should be made with your health care provider. The shingles vaccine is not recommended if you have active shingles or pain that continues after the rash is gone. Although there is no specific time that you must wait after having shingles before receiving the shingles vaccine, you should generally make sure that the shingles rash has disappeared before getting vaccinated. Where To Get the Vaccine The shingles vaccine is available in doctors offices, pharmacies, workplaces, community health clinics, and health departments. Most private health insurance plans cover recommended vaccines. Check with your insurance provider for details and for a list of vaccine providers. Medicare Part D plans cover shingles vaccine, but there may be costs to you depending on your specific plan. If you do not have health insurance, visit www.healthcare.gov to learn more about health insurance options. Who Should Not Get the Vaccine? You should NOT get the shingles vaccine if you - have an active case of shingles or have pain that continues after the rash is gone - have ever had a life-threatening or severe allergic reaction to gelatin, the antibiotic neomycin, or any other component of the shingles vaccine. Tell your doctor if you have any severe allergies. - have a weakened immune system because of: -- HIV/AIDS or another disease that affects the immune system -- treatment with drugs that affect the immune system, such as steroids -- cancer treatment such as radiation or chemotherapy -- cancer affecting the bone marrow or lymphatic system, such as leukemia or lymphoma. have an active case of shingles or have pain that continues after the rash is gone have ever had a life-threatening or severe allergic reaction to gelatin, the antibiotic neomycin, or any other component of the shingles vaccine. Tell your doctor if you have any severe allergies. have a weakened immune system because of: -- HIV/AIDS or another disease that affects the immune system -- treatment with drugs that affect the immune system, such as steroids -- cancer treatment such as radiation or chemotherapy -- cancer affecting the bone marrow or lymphatic system, such as leukemia or lymphoma. - are pregnant or might be pregnant. are pregnant or might be pregnant. To learn more about the vaccine, see Zostavax: Questions and Answers. Could Vaccines Make Shingles a Rare Disease? The shingles vaccine is basically a stronger version of the chickenpox vaccine, which became available in 1995. The chickenpox shot prevents chickenpox in 70 to 90 percent of those vaccinated, and 95 percent of the rest have only mild symptoms. Millions of children and adults have already received the chickenpox shot. Interestingly, the chickenpox vaccine may reduce the shingles problem. Widespread use of the chickenpox vaccine means that fewer people will get chickenpox in the future. And if people do not get chickenpox, they cannot get shingles. Use of the shingles and chickenpox vaccines may one day make shingles a rare disease. To find out more, visit Shingles Vaccination: What You Need to Know or Shingles Vaccine) |
symptoms | What are the symptoms of Opsismodysplasia ? | What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. 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 form of the vertebral bodies 90% Abnormal vertebral ossification 90% Abnormality of epiphysis morphology 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the fontanelles or cranial sutures 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Frontal bossing 90% Limb undergrowth 90% Macrocephaly 90% Respiratory insufficiency 90% Short nose 90% Tapered finger 90% Muscular hypotonia 50% Recurrent respiratory infections 50% Abnormality of thumb phalanx 7.5% Blue sclerae 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Narrow chest 7.5% Pectus excavatum 7.5% Splenomegaly 7.5% Hypophosphatemia 5% Renal phosphate wasting 5% Anterior rib cupping - Anteverted nares - Autosomal recessive inheritance - Bell-shaped thorax - Disproportionate short-limb short stature - Edema - Flat acetabular roof - Hypertelorism - Hypoplastic ischia - Hypoplastic pubic bone - Hypoplastic vertebral bodies - Large fontanelles - Long philtrum - Metaphyseal cupping - Polyhydramnios - Posterior rib cupping - Protuberant abdomen - Rhizomelia - Severe platyspondyly - Short foot - Short long bone - Short neck - Short palm - Squared iliac bones - 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. |
information | What is (are) Noonan syndrome ? | Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward. Affected individuals may have a high arch in the roof of the mouth (high-arched palate), poor alignment of the teeth, and a small lower jaw (micrognathia). Many children with Noonan syndrome have a short neck and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck. Approximately 50 to 70 percent of individuals with Noonan syndrome have short stature. At birth, they are usually of normal length and weight, but growth slows over time. Abnormal levels of growth hormone may contribute to the slow growth. Individuals with Noonan syndrome often have either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some affected people may also have an abnormal side-to-side curvature of the spine (scoliosis). Most people with Noonan syndrome have a heart defect. The most common heart defect is a narrowing of the valve that controls blood flow from the heart to the lungs (pulmonary valve stenosis). Some affected individuals have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. A variety of bleeding disorders have been associated with Noonan syndrome. Some people may have excessive bruising, nosebleeds, or prolonged bleeding following injury or surgery. Women with a bleeding disorder typically have excessive bleeding during menstruation (menorrhagia) or childbirth. Adolescent males with Noonan syndrome typically experience delayed puberty. Affected individuals go through puberty starting at age 13 or 14 and have a reduced pubertal growth spurt. Most males with Noonan syndrome have undescended testicles (cryptorchidism), which may be related to delayed puberty or to infertility (inability to father a child) later in life. Females with Noonan syndrome typically have normal puberty and fertility. Noonan syndrome can cause a variety of other signs and symptoms. Most children diagnosed with Noonan syndrome have normal intelligence, but a small percentage has special educational needs, and some have intellectual disability. Some affected individuals have vision or hearing problems. Infants with Noonan syndrome may be born with puffy hands and feet caused by a buildup of fluid (lymphedema), which can go away on its own. Affected infants may also have feeding problems, which typically get better by age 1 or 2. Older individuals can also develop lymphedema, usually in the ankles and lower legs. |
information | What is (are) Crohn's Disease ? | Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. Crohn's can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an abnormal reaction by the body's immune system. It also seems to run in some families. It most commonly starts between the ages of 13 and 30. The most common symptoms are pain in the abdomen and diarrhea. Other symptoms include - Bleeding from the rectum - Weight loss - Fever Your doctor will diagnose Crohn's disease with a physical exam, lab tests, imaging tests, and a colonoscopy. Crohn's can cause complications, such as intestinal blockages, ulcers in the intestine, and problems getting enough nutrients. People with Crohn's can also have joint pain and skin problems. Children with the disease may have growth problems. There is no cure for Crohn's. Treatment can help control symptoms, and may include medicines, nutrition supplements, and/or surgery. Some people have long periods of remission, when they are free of symptoms. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
information | What is (are) Skin Cancer ? | When the cancer spreads from its original tumor location in the skin to another part of the body such as the brain, it is called metastatic skin cancer. It is not the same as a cancer that started in the brain (brain cancer). Doctors sometimes call this "distant" disease. |
information | What is (are) Renal tubular acidosis with deafness ? | Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of the bones and hypokalemic paralysis (extreme muscle weakness associated with low levels of potassium in the blood). Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. It is inherited in an autosomal recessive pattern. Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition. |
susceptibility | Who is at risk for Prostate Cancer? ? | Scientists have wondered whether obesity, lack of exercise, smoking, and radiation exposure, might increase risk. But at this time, there is no conclusive evidence that any of these factors contribute to an increased risk. |
treatment | What are the treatments for Pineocytoma ? | How might a pineocytoma be treated? Because pineocytomas are quite rare, there are no consensus guidelines on the best treatment for these tumors. However, surgery to remove the entire tumor is considered the standard treatment. Because these tumors are located deep in the brain, it is important that the risks of surgery be carefully considered in each person. Radiation therapy is sometimes used following surgery to destroy any tumor cells that may remain, but the benefit of this additional treatment is questionable. |
inheritance | Is hypermethioninemia inherited ? | Hypermethioninemia can have different inheritance patterns. This condition is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Hypermethioninemia is occasionally inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually has one parent with the condition. |
inheritance | Is lactose intolerance inherited ? | The type of lactose intolerance that occurs in infants (congenital lactase deficiency) is inherited in an autosomal recessive pattern, which means both copies of the LCT gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The ability to digest lactose into adulthood depends on which variations in the regulatory element within the MCM6 gene individuals have inherited from their parents. The variations that promote continued lactase production are considered autosomal dominant, which means one copy of the altered regulatory element in each cell is sufficient to sustain lactase production. People who have not inherited these variations from either parent will have some degree of lactose intolerance. |
information | What is (are) Gallbladder Diseases ? | Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbladder is most likely to give you trouble if something blocks the flow of bile through the bile ducts. That is usually a gallstone. Gallstones form when substances in bile harden. Rarely, you can also get cancer in your gallbladder. Many gallbladder problems get better with removal of the gallbladder. Fortunately, you can live without a gallbladder. Bile has other ways of reaching your small intestine. |
treatment | What are the treatments for Shwachman-Diamond syndrome ? | These resources address the diagnosis or management of Shwachman-Diamond syndrome: - Gene Review: Gene Review: Shwachman-Diamond Syndrome - Genetic Testing Registry: Shwachman syndrome - MedlinePlus Encyclopedia: Malabsorption 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 |
genetic changes | What are the genetic changes related to renal coloboma syndrome ? | Renal coloboma syndrome is caused by mutations in the PAX2 gene. The PAX2 gene provides instructions for making a protein that is involved in the early development of the eyes, ears, brain and spinal cord (central nervous system), kidneys, and genital tract. The PAX2 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX2 protein is called a transcription factor. After birth, the PAX2 protein is thought to protect against cell death during periods of cellular stress. Mutations in the PAX2 gene lead to the production of a nonfunctional PAX2 protein that is unable to aid in development, causing incomplete formation of certain tissues. Why the kidneys and eyes are specifically affected by PAX2 gene mutations is unclear. Approximately half of those affected with renal coloboma syndrome do not have an identified mutation in the PAX2 gene. In these cases, the cause of the disorder is unknown. |
information | What is (are) Buschke Lowenstein tumor ? | Buschke Lowenstein tumor is a tumor that most commonly occurs near the penis or anus. This tumor often looks like a large genital wart; it tends to grow slowly, but can sometimes grow very large and spread into surrounding tissues. These tumors rarely spread to other parts of the body. Treatment of these tumors begins with removal by surgery. Chemotherapy and radiation therapy have also been shown to be effective treatments for this tumor type. |
considerations | What to do for Goodpasture Syndrome ? | Eating, diet, and nutrition have not been shown to play a role in causing or preventing Goodpasture syndrome. |
symptoms | What are the symptoms of Abruzzo Erickson syndrome ? | What are the signs and symptoms of Abruzzo Erickson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Abruzzo Erickson 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) Cleft palate 90% Displacement of the external urethral meatus 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Chorioretinal coloboma 50% Iris coloboma 50% Radioulnar synostosis 50% Sensorineural hearing impairment 50% Short stature 50% Ulnar deviation of finger 50% Abnormal localization of kidney 7.5% Abnormality of dental morphology 7.5% Atria septal defect 7.5% Brachydactyly syndrome 7.5% Chin dimple 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Microcornea 7.5% Short toe 7.5% Toe syndactyly 7.5% Coloboma - Hearing impairment - Hypospadias - Protruding ear - 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. |
symptoms | What are the symptoms of Cerebral sarcoma ? | What are the signs and symptoms of Cerebral sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sarcoma. 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 - Fibrosarcoma - 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. |
frequency | How many people are affected by mucolipidosis type IV ? | Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 percent of affected individuals have Ashkenazi Jewish ancestry. |
considerations | What to do for IgA Nephropathy ? | Researchers have not found that eating, diet, and nutrition play a role in causing or preventing IgA nephropathy. Health care providers may recommend that people with kidney disease, such as IgA nephropathy, make dietary changes such as
- limiting dietary sodium, often from salt, to help reduce edema and lower blood pressure - decreasing liquid intake to help reduce edema and lower blood pressure - eating a diet low in saturated fat and cholesterol to help control high levels of lipids, or fats, in the blood
Health care providers may also recommend that people with kidney disease eat moderate or reduced amounts of protein, although the benefit of reducing protein in a persons diet is still being researched. Proteins break down into waste products the kidneys must filter from the blood. Eating more protein than the body needs may burden the kidneys and cause kidney function to decline faster. However, protein intake that is too low may lead to malnutrition, a condition that occurs when the body does not get enough nutrients. People with kidney disease on a restricted protein diet should receive blood tests that can show nutrient levels.
Some researchers have shown that fish oil supplements containing omega-3 fatty acids may slow kidney damage in some people with kidney disease by lowering blood pressure. Omega-3 fatty acids may help reduce inflammation and slow kidney damage due to IgA nephropathy. To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of dietary supplements and probiotics, with their health care provider. Read more at www.nccam.nih.gov/health/supplements.
People with IgA nephropathy should talk with a health care provider about dietary changes to best manage their individual needs. |
inheritance | Is fucosidosis 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. |
susceptibility | Who is at risk for Heart Palpitations? ? | Some people may be more likely than others to have palpitations. People at increased risk include those who:
Have anxiety or panic attacks, or people who are highly stressed
Take certain medicines or stimulants
Have certain medical conditions that aren't related to heart problems, such as an overactive thyroid
Have certain heart problems, such as arrhythmias (irregular heartbeats), a previous heart attack, heart failure, heart valve disease, or heart muscle disease
Women who are pregnant, menstruating, or perimenopausal also may be at higher risk for palpitations because of hormonal changes. Some palpitations that occur during pregnancy may be due to anemia.
For more information about these risk factors, go to "What Causes Palpitations?" |
information | What is (are) Kidney Stones in Children ? | The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of the back. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quarts of urine an adult produces each day. Children produce less urine each day; the amount produced depends on their age. The urine travels from the kidneys down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder. |
information | What is (are) Lung Cancer ? | Key Points
- Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - Lung cancer is the leading cause of cancer death in both men and women.
Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung.
The lungs are a pair of cone-shaped breathing organs in the chest. The lungs bring oxygen into the body as you breathe in. They release carbon dioxide, a waste product of the body's cells, as you breathe out. Each lung has sections called lobes. The left lung has two lobes. The right lung is slightly larger, and has three lobes. A thin membrane called the pleura surrounds the lungs. Two tubes called bronchi lead from the trachea (windpipe) to the right and left lungs. The bronchi are sometimes also involved in lung cancer. Tiny air sacs called alveoli and small tubes called bronchioles make up the inside of the lungs. There are two types of lung cancer: small cell lung cancer and non-small cell lung cancer. See the following PDQ summaries for more information about lung cancer: - Lung Cancer Screening - Non-Small Cell Lung Cancer Treatment - Small Cell Lung Cancer Treatment
Lung cancer is the leading cause of cancer death in both men and women.
More people die from lung cancer than from any other type of cancer. Lung cancer is the second most common cancer in the United States, after skin cancer. The number of new cases and deaths from lung cancer is highest in black men. |
symptoms | What are the symptoms of Northern epilepsy ? | What are the signs and symptoms of Northern epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Northern epilepsy. 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) Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Delayed speech and language development - Developmental regression - EEG abnormality - Increased neuronal autofluorescent lipopigment - Myoclonus - Progressive visual loss - Seizures - 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. |
research | what research (or clinical trials) is being done for Urethral Cancer ? | New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI website.
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. |
information | What is (are) Heat Illness ? | Your body normally cools itself by sweating. During hot weather, especially with high humidity, sweating just isn't enough. Your body temperature can rise to dangerous levels and you can develop a heat illness. Most heat illnesses occur from staying out in the heat too long. Exercising too much for your age and physical condition are also factors. Older adults, young children and those who are sick or overweight are most at risk. Drinking fluids to prevent dehydration, replenishing salt and minerals, and limiting time in the heat can help. Heat-related illnesses include - Heatstroke - a life-threatening illness in which body temperature may rise above 106 F in minutes; symptoms include dry skin, rapid, strong pulse and dizziness - Heat exhaustion - an illness that can precede heatstroke; symptoms include heavy sweating, rapid breathing and a fast, weak pulse - Heat cramps - muscle pains or spasms that happen during heavy exercise - Heat rash - skin irritation from excessive sweating Centers for Disease Control and Prevention |
information | What is (are) Brain Diseases ? | The brain is the control center of the body. It controls thoughts, memory, speech, and movement. It regulates the function of many organs. When the brain is healthy, it works quickly and automatically. However, when problems occur, the results can be devastating. Inflammation in the brain can lead to problems such as vision loss, weakness and paralysis. Loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. Brain tumors can also press on nerves and affect brain function. Some brain diseases are genetic. And we do not know what causes some brain diseases, such as Alzheimer's disease. The symptoms of brain diseases vary widely depending on the specific problem. In some cases, damage is permanent. In other cases, treatments such as surgery, medicines, or physical therapy can correct the source of the problem or improve symptoms. |
symptoms | What are the symptoms of Intestinal Pseudo-obstruction ? | Intestinal pseudo-obstruction symptoms may include
- abdominal swelling or bloating, also called distension - abdominal pain - nausea - vomiting - constipation - diarrhea
Over time, the condition can cause malnutrition, bacterial overgrowth in the intestines, and weight loss. Malnutrition is a condition that develops when the body does not get the right amount of the vitamins, minerals, and other nutrients it needs to maintain healthy tissues and organ function.
Some people develop problems with their esophagus, stomach, or bladder. |
information | What is (are) Polycythemia Vera ? | Key Points
- Polycythemia vera is a disease in which too many red blood cells are made in the bone marrow. - Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. - Special blood tests are used to diagnose polycythemia vera.
Polycythemia vera is a disease in which too many red blood cells are made in the bone marrow.
In polycythemia vera, the blood becomes thickened with too many red blood cells. The number of white blood cells and platelets may also increase. These extra blood cells may collect in the spleen and cause it to swell. The increased number of red blood cells, white blood cells, or platelets in the blood can cause bleeding problems and make clots form in blood vessels. This can increase the risk of stroke or heart attack. In patients who are older than 65 years or who have a history of blood clots, the risk of stroke or heart attack is higher. Patients also have an increased risk of acute myeloid leukemia or primary myelofibrosis. |
treatment | What are the treatments for Perrault syndrome ? | These resources address the diagnosis or management of Perrault syndrome: - Gene Review: Gene Review: Perrault Syndrome - Genetic Testing Registry: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance - Genetic Testing Registry: Perrault syndrome 2 - Genetic Testing Registry: Perrault syndrome 4 - Genetic Testing Registry: Perrault syndrome 5 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 |
outlook | What is the outlook for Moebius Syndrome ? | There is no cure for Moebius syndrome. In spite of the impairments that characterize the disorder, proper care and treatment give many individuals a normal life expectancy. |
information | What is (are) Hereditary spherocytosis ? | Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. Some people with a severe form may have short stature, delayed sexual development, and skeletal abnormalities. The condition is caused by mutations in any of several genes, such as the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant manner, but may be inherited in an autosomal recessive manner. There are different types of hereditary spherocytosis, which are distinguished by severity and genetic cause. Depending on severity, treatment may involve splenectomy, red cell transfusions, folic acid supplementation, and/or cholecystectomy. |
causes | What causes Amelogenesis imperfecta ? | What causes amelogenesis imperfecta? Amelogenesis imperfecta is caused by mutations in the AMELX, ENAM, and MMP20 genes. These genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. Mutations in any of these genes alter the structure of these proteins or prevent the genes from making any protein at all. As a result, tooth enamel is abnormally thin or soft and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged. In some cases, the genetic cause of amelogenesis imperfecta can not been identified. Researchers are working to find mutations in other genes that are responsible for this disorder. Click on each gene name to learn more about the role it plays in the development of tooth enamel. |
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