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information | What is (are) Lupus Nephritis ? | Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE or lupus). SLE is an autoimmune diseasea disorder in which the bodys immune system attacks the bodys own cells and organs. Up to 60 percent of people with SLE are diagnosed with lupus nephritis, which can lead to significant illness and even death.1 |
information | What is (are) Carnitine-acylcarnitine translocase deficiency ? | Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids. Carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type happens in newborns. A milder, less common type happens in older infants and children. |
treatment | What are the treatments for Bethlem myopathy ? | How might Bethlem myopathy be treated? The treatment for Behtlem myopathy is symptomatic and supportive. This means that treatment is directed at the individual symptoms that are present in each case. There is no cure. In most cases, physical therapy, stretching exercises, splinting, and/or mobility aids are employed. In rare cases, surgery may be needed (i.e. for Achilles tendon contractures or scoliosis). |
prevention | what diseases are vaccine preventable | List of Vaccine-Preventable Diseases The following links will lead you to the main page that describes both the disease and the vaccine(s). Vaccines are available for all of the following vaccine-preventable diseases (unless otherwise noted): Anthrax Cervical Cancer (Human Papillomavirus) Diphtheria Hepatitis A Hepatitis B Haemophilus influenzae type b (Hib) Human Papillomavirus (HPV) Influenza (Flu) Japanese encephalitis (JE) Measles Meningococcal Mumps Pertussis Pneumococcal Polio Rabies Rotavirus Rubella Shingles (Herpes Zoster) Smallpox Tetanus Typhoid Tuberculosis (TB) Varicella (Chickenpox) Yellow Fever Related Pages For Parents: What You Need to Know List of Vaccines Used in U.S. Photos of diseases Top of Page Images and logos on this website which are trademarked/copyrighted or used with permission of the trademark/copyright or logo holder are not in the public domain. These images and logos have been licensed for or used with permission in the materials provided on this website. The materials in the form presented on this website may be used without seeking further permission. Any other use of trademarked/copyrighted images or logos requires permission from the trademark/copyright holder...more This graphic notice means that you are leaving an HHS Web site. For more information, please see the Exit Notification and Disclaimer policy. |
symptoms | What are the symptoms of Liver failure acute infantile ? | What are the signs and symptoms of Liver failure acute infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Liver failure acute infantile. 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) Abdominal distention - Abnormality of the coagulation cascade - Acute hepatic failure - Autosomal recessive inheritance - Elevated hepatic transaminases - Feeding difficulties in infancy - Hepatomegaly - Hyperbilirubinemia - Increased serum lactate - Jaundice - Lactic acidosis - Macrovesicular hepatic steatosis - Microvesicular hepatic steatosis - Mitochondrial respiratory chain defects - Muscular hypotonia - Vomiting - 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 Sleep Deprivation and Deficiency ? | Sleep deficiency can cause you to feel very tired during the day. You may not feel refreshed and alert when you wake up. Sleep deficiency also can interfere with work, school, driving, and social functioning.
How sleepy you feel during the day can help you figure out whether you're having symptoms of problem sleepiness. You might be sleep deficient if you often feel like you could doze off while:
Sitting and reading or watching TV
Sitting still in a public place, such as a movie theater, meeting, or classroom
Riding in a car for an hour without stopping
Sitting and talking to someone
Sitting quietly after lunch
Sitting in traffic for a few minutes
Sleep deficiency can cause problems with learning, focusing, and reacting. You may have trouble making decisions, solving problems, remembering things, controlling your emotions and behavior, and coping with change. You may take longer to finish tasks, have a slower reaction time, and make more mistakes.
The signs and symptoms of sleep deficiency may differ between children and adults. Children who are sleep deficient might be overly active and have problems paying attention. They also might misbehave, and their school performance can suffer.
Sleep-deficient children may feel angry and impulsive, have mood swings, feel sad or depressed, or lack motivation.
You may not notice how sleep deficiency affects your daily routine. A common myth is that people can learn to get by on little sleep with no negative effects. However, research shows that getting enough quality sleep at the right times is vital for mental health, physical health, quality of life, and safety.
To find out whether you're sleep deficient, try keeping a sleep diary for a couple of weeks. Write down how much you sleep each night, how alert and rested you feel in the morning, and how sleepy you feel during the day.
Compare the amount of time you sleep each day with the average amount of sleep recommended for your age group, as shown in the chart in "How Much Sleep Is Enough?" If you often feel very sleepy, and efforts to increase your sleep don't help, talk with your doctor.
You can find a sample sleep diary in the National Heart, Lung, and Blood Institute's "Your Guide to Healthy Sleep." |
inheritance | Is Jackson-Weiss syndrome 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. |
symptoms | What are the symptoms of Rheumatoid nodulosis ? | What are the signs and symptoms of Rheumatoid nodulosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Rheumatoid nodulosis. 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 - Subcutaneous nodule - 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 Zollinger-Ellison Syndrome ? | Zollinger-Ellison syndrome is rare and only occurs in about one in every 1 million people.1 Although anyone can get Zollinger-Ellison syndrome, the disease is more common among men 30 to 50 years old. A child who has a parent with MEN1 is also at increased risk for Zollinger-Ellison syndrome.2 |
treatment | What are the treatments for Leiomyosarcoma ? | How might leiomyosarcoma be treated? Treatment of leiomyosarcoma varies depending on the location and stage of the cancer. Surgery is typically the first choice for treatment, however, chemotherapy, targeted drugs, radiation therapy, and hormonal therapy may also be used to treat leiomyosarcoma. Additional information on the treatment of intestinal leiomyosarcoma is available from Medscape Reference. You may need to register to view this online medical resource, but registration is free |
information | Do you have information about Urinalysis | Summary : A urinalysis is a test of your urine. It is often done to check for a urinary tract infections, kidney problems, or diabetes. You may also have one during a checkup, if you are admitted to the hospital, before you have surgery, or if you are pregnant. It can also monitor some medical conditions and treatments. A urinalysis involves checking the urine for - Its color - Its appearance (whether it is clear or cloudy) - Any odor - The pH level (acidity) - Whether there are substances that are not normally in urine, such as blood, too much protein, glucose, ketones, and bilirubin - Whether there are cells, crystals, and casts (tube-shaped proteins) - Whether it contains bacteria or other germs |
frequency | How many people are affected by Guillain-Barr syndrome ? | The prevalence of Guillain-Barr syndrome is estimated to be 6 to 40 cases per 1 million people. The occurrence of the different types of Guillain-Barr syndrome varies across regions. AIDP is the most common type in North America and Europe, accounting for approximately 90 percent of cases of Guillain-Barr syndrome in those regions. AMAN and AMSAN together account for 30 to 50 percent of cases in Asian countries and Latin America but only 3 to 5 percent of cases in North America and Europe. Miller Fisher syndrome is also more common in Asian countries, accounting for approximately 20 percent of cases in these countries but less than 5 percent in North America and Europe. |
outlook | What is the outlook for Colpocephaly ? | The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. Some children benefit from special education. |
treatment | What are the treatments for peroxisomal acyl-CoA oxidase deficiency ? | These resources address the diagnosis or management of peroxisomal acyl-CoA oxidase deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Pseudoneonatal adrenoleukodystrophy 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) Virus associated hemophagocytic syndrome ? | Virus associated hemophagocytic syndrome is a very serious complication of a viral infection. Signs and symptoms of virus associated hemophagocytic syndrome, include high fever, liver problems, enlarged liver and spleen, coagulation factor abnormalities, decreased red or white blood cells and platelets (pancytopenia), and a build-up of histiocytes, a type of immune cell, in various tissues in the body resulting in the destruction of blood-producing cells (histiocytic proliferation with prominent hemophagocytosis). Diagnosis is based upon the signs and symptoms of the patient. The cause of the condition is not known. Treatment is challenging and approach will vary depending on the age and medical history of the patient. Complications of this syndrome can become life threatening. Related conditions (conditions with overlapping signs and symptoms), include histiocytic medullary reticulosis (HMR), familial hemophagocytic lymphohistiocytosis (FHL), and X-linked lymphoproliferative syndrome. |
causes | What causes Endocarditis ? | Infective endocarditis (IE) occurs if bacteria, fungi, or other germs invade your bloodstream and attach to abnormal areas of your heart. Certain factors increase the risk of this happening.
A common underlying factor in IE is a structural heart defect, especially faulty heart valves. Usually your immune system will kill germs in your bloodstream. However, if your heart has a rough lining or abnormal valves, the invading germs can attach and multiply in the heart.
Other factors also can play a role in causing IE. Common activities, such as brushing your teeth or having certain dental procedures, can allow bacteria to enter your bloodstream. This is even more likely to happen if your teeth and gums are in poor condition.
Having a catheter (tube) or another medical device inserted through your skin, especially for long periods, also can allow bacteria to enter your bloodstream. People who use intravenous (IV) drugs also are at risk for IE because of the germs on needles and syringes.
Bacteria also may spread to the blood and heart from infections in other parts of the body, such as the gut, skin, or genitals.
Endocarditis Complications
As the bacteria or other germs multiply in your heart, they form clumps with other cells and matter found in the blood. These clumps are called vegetations (vej-eh-TA-shuns).
As IE worsens, pieces of the vegetations can break off and travel to almost any other organ or tissue in the body. There, the pieces can block blood flow or cause a new infection. As a result, IE can cause a range of complications.
Heart Complications
Heart problems are the most common complication of IE. They occur in one-third to one-half of all people who have the infection. These problems may include a new heart murmur, heart failure, heart valve damage, heart block, or, rarely, a heart attack.
Central Nervous System Complications
These complications occur in as many as 20 to 40 percent of people who have IE. Central nervous system complications most often occur when bits of the vegetation, called emboli (EM-bo-li), break away and lodge in the brain.
The emboli can cause local infections called brain abscesses. Or, they can cause a more widespread brain infection called meningitis (men-in-JI-tis).
Emboli also can cause strokes or seizures. This happens if they block blood vessels or affect the brain's electrical signals. These complications can cause long-term damage to the brain and may even be fatal.
Complications in Other Organs
IE also can affect other organs in the body, such as the lungs, kidneys, and spleen.
Lungs. The lungs are especially at risk when IE affects the right side of the heart. This is called right-sided infective endocarditis.
A vegetation or blood clot going to the lungs can cause a pulmonary embolism (PE) and lung damage. A PE is a sudden blockage in a lung artery.
Other lung complications include pneumonia and a buildup of fluid or pus around the lungs.
Kidneys. IE can cause kidney abscesses and kidney damage. The infection also can inflame the internal filtering structures of the kidneys.
Signs and symptoms of kidney complications include back or side pain, blood in the urine, or a change in the color or amount of urine. In some cases, IE can cause kidney failure.
Spleen. The spleen is an organ located in the left upper part of the abdomen near the stomach. In some people who have IE, the spleen enlarges (especially in people who have long-term IE). Sometimes emboli also can damage the spleen.
Signs and symptoms of spleen problems include pain or discomfort in the upper left abdomen and/or left shoulder, a feeling of fullness or the inability to eat large meals, and hiccups. |
information | What is (are) DOORS syndrome ? | DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features. Most people with DOORS syndrome have profound hearing loss caused by changes in the inner ears (sensorineural deafness). Developmental delay and intellectual disability are also often severe in this disorder. The nail abnormalities affect both the hands and the feet in DOORS syndrome. Impaired growth of the bones at the tips of the fingers and toes (hypoplastic terminal phalanges) account for the short fingers and toes characteristic of this disorder. Some affected individuals also have an extra bone and joint in their thumbs, causing the thumbs to look more like the other fingers (triphalangeal thumbs). The seizures that occur in people with DOORS syndrome usually start in infancy. The most common seizures in people with this condition are generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also have other types of seizures, including partial seizures, which affect only one area of the brain and do not cause a loss of consciousness; absence seizures, which cause loss of consciousness for a short period that appears as a staring spell; or myoclonic seizures, which cause rapid, uncontrolled muscle jerks. In some affected individuals the seizures increase in frequency and become more severe and difficult to control, and a potentially life-threatening prolonged seizure (status epilepticus) can occur. Other features that can occur in people with DOORS syndrome include an unusually small head size (microcephaly) and facial differences, most commonly a wide, bulbous nose. A narrow or high arched roof of the mouth (palate), broadening of the ridges in the upper and lower jaw that contain the sockets of the teeth (alveolar ridges), or shortening of the membrane between the floor of the mouth and the tongue (frenulum) have also been observed in some affected individuals. People with DOORS syndrome may also have dental abnormalities, structural abnormalities of the heart or urinary tract, and abnormally low levels of thyroid hormones (hypothyroidism). Most affected individuals also have higher-than-normal levels of a substance called 2-oxoglutaric acid in their urine; these levels can fluctuate between normal and elevated. |
exams and tests | How to diagnose Milroy disease ? | Is genetic testing available for Milroy disease? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for Milroy disease. The intended audience for the GTR is health care providers and researchers. People with questions about genetic testing should speak with a health care provider or genetics professional. If a mutation in the responsible gene has been identified in a family, genetic testing for at-risk relatives may identify those who may benefit from treatment early in the disease course. Prenatal testing for pregnancies at increased risk may also be available. |
treatment | What are the treatments for Cyclic Vomiting Syndrome ? | A health care provider may refer patients to a gastroenterologist for treatment.
People with cyclic vomiting syndrome should get plenty of rest and take medications to prevent a vomiting episode, stop an episode in progress, speed up recovery, or relieve associated symptoms.
The health care team tailors treatment to the symptoms experienced during each of the four cyclic vomiting syndrome phases:
- Prodrome phase treatment. The goal during the prodrome phase is to stop an episode before it progresses. Taking medication early in the phase can help stop an episode from moving to the vomiting phase or becoming severe; however, people do not always realize an episode is coming. For example, a person may wake up in the morning and begin vomiting. A health care provider may recommend the following medications for both children and adults: - ondansetron (Zofran) or lorazepam (Ativan) for nausea - ibuprofen for abdominal pain - ranitidine (Zantac), lansoprazole (Prevacid), or omeprazole (Prilosec, Zegerid) to control stomach acid production - sumatriptan (Imitrex)prescribed as a nasal spray, an injection, or a pill that dissolves under the tonguefor migraines - Vomiting phase treatment. Once vomiting begins, people should call or see a health care provider as soon as possible. Treatment usually requires the person to stay in bed and sleep in a dark, quiet room. A health care provider may recommend the following for both children and adults: - medication for pain, nausea, and reducing stomach acid and anxiety - anti-migraine medications such as sumatriptan to stop symptoms of a migraine or possibly stop an episode in progress - hospitalization for severe nausea and vomiting - IV fluids and medications to prevent dehydration and treat symptoms - IV nutrition if an episode continues for several days - Recovery phase treatment. During the recovery phase, drinking and eating will replace lost electrolytes. A person may need IV fluids for a period of time. Some people find their appetite returns to normal right away, while others start by drinking clear liquids and then moving slowly to other liquids and solid food. A health care provider may prescribe medications during the recovery phase and well phase to prevent future episodes. - Well phase treatment. During the well phase, a health care provider may use medications to treat people whose episodes are frequent and long lasting in an effort to prevent or ease future episodes. A person may need to take a medication daily for 1 to 2 months before evaluating whether it helps prevent episodes. A health care provider may prescribe the following medications for both children and adults during the well phase to prevent cyclic vomiting syndrome episodes, lessen their severity, and reduce their frequency: - amitriptyline (Elavil) - propranolol (Inderal) - cyproheptadine (Periactin) |
inheritance | Is giant congenital melanocytic nevus inherited ? | This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. A somatic mutation in one copy of the NRAS or BRAF gene is sufficient to cause this disorder. |
inheritance | Is Metachromatic leukodystrophy inherited ? | How is metachromatic leukodystrophy inherited? Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent. Typically, an individual is affected because they inherited a mutated copy of the gene from each parent. Individuals with one mutated copy of the gene (such as an unaffected parent of an affected individual) are referred to as carriers; carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. |
genetic changes | What are the genetic changes related to familial hemiplegic migraine ? | Mutations in the CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been found to cause familial hemiplegic migraine. The first three genes provide instructions for making proteins that are involved in the transport of charged atoms (ions) across cell membranes. The movement of these ions is critical for normal signaling between nerve cells (neurons) in the brain and other parts of the nervous system. The function of the protein produced from the PRRT2 gene is unknown, although studies suggest it interacts with a protein that helps control signaling between neurons. Communication between neurons depends on chemicals called neurotransmitters, which are released from one neuron and taken up by neighboring neurons. Researchers believe that mutations in the CACNA1A, ATP1A2, and SCN1A genes can upset the balance of ions in neurons, which disrupts the normal release and uptake of certain neurotransmitters in the brain. Although the mechanism is unknown, researchers speculate that mutations in the PRRT2 gene, which reduce the amount of PRRT2 protein, also disrupt normal control of neurotransmitter release. The resulting changes in signaling between neurons lead people with familial hemiplegic migraine to develop these severe headaches. There is little evidence that mutations in the CACNA1A, ATP1A2, SCN1A, and PRRT2 genes play a role in common migraines, which affect millions of people each year. Researchers are searching for additional genetic changes that may underlie rare types of migraine, such as familial hemiplegic migraine, as well as the more common forms of migraine. |
information | What is (are) Speech and Communication Disorders ? | Many disorders can affect our ability to speak and communicate. They range from saying sounds incorrectly to being completely unable to speak or understand speech. Causes include - Hearing disorders and deafness - Voice problems, such as dysphonia or those caused by cleft lip or palate - Speech problems like stuttering - Developmental disabilities - Learning disorders - Autism spectrum disorder - Brain injury - Stroke Some speech and communication problems may be genetic. Often, no one knows the causes. By first grade, about 5 percent of children have noticeable speech disorders. Speech and language therapy can help. NIH: National Institute on Deafness and Other Communication Disorders |
symptoms | What are the symptoms of Kidney Stones in Adults ? | People with kidney stones may have pain while urinating, see blood in the urine, or feel a sharp pain in the back or lower abdomen. The pain may last for a short or long time. People may experience nausea and vomiting with the pain. However, people who have small stones that pass easily through the urinary tract may not have symptoms at all. |
treatment | What are the treatments for oculofaciocardiodental syndrome ? | These resources address the diagnosis or management of oculofaciocardiodental syndrome: - Genetic Testing Registry: Oculofaciocardiodental 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 |
symptoms | What are the symptoms of Infantile convulsions and paroxysmal choreoathetosis, familial ? | What are the signs and symptoms of Infantile convulsions and paroxysmal choreoathetosis, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile convulsions and paroxysmal choreoathetosis, familial. 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) Chorea 90% EEG abnormality 90% Seizures 90% Incoordination 50% Migraine 50% Stereotypic behavior 7.5% Anxiety - Autosomal dominant inheritance - Focal seizures, afebril - Generalized seizures - Normal interictal EEG - Paroxysmal choreoathetosis - Paroxysmal dystonia - 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. |
considerations | What to do for What I need to know about Diverticular Disease ? | - Diverticular disease is more common in people as they grow older. - A low-fiber diet is the most likely cause of the disease. - Most people are treated with a high-fiber diet and pain medication. - Add whole grain foods, high-fiber fruits, and vegetables to your diet. - Contact a doctor if you notice symptoms such as fever, chills, nausea, vomiting, abdominal pain, rectal bleeding, or change in bowel habits. |
research | what research (or clinical trials) is being done for Lissencephaly ? | The NINDS conducts and supports a wide range of studies that explore the complex systems of normal brain development, including neuronal migration. Recent studies have identified genes that are responsible for lissencephaly. The knowledge gained from these studies provides the foundation for developing treatments and preventive measures for neuronal migration disorders. |
information | What is (are) Diabetic Foot ? | If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your nerves or blood vessels. Nerve damage from diabetes can cause you to lose feeling in your feet. You may not feel a cut, a blister or a sore. Foot injuries such as these can cause ulcers and infections. Serious cases may even lead to amputation. Damage to the blood vessels can also mean that your feet do not get enough blood and oxygen. It is harder for your foot to heal, if you do get a sore or infection. You can help avoid foot problems. First, control your blood sugar levels. Good foot hygiene is also crucial: - Check your feet every day - Wash your feet every day - Keep the skin soft and smooth - Smooth corns and calluses gently - If you can see, reach, and feel your feet, trim your toenails regularly. If you cannot, ask a foot doctor (podiatrist) to trim them for you. - Wear shoes and socks at all times - Protect your feet from hot and cold - Keep the blood flowing to your feet NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
causes | What causes Sarcoidosis ? | The cause of sarcoidosis isn't known. More than one factor may play a role in causing the disease.
Some researchers think that sarcoidosis develops if your immune system responds to a trigger, such as bacteria, viruses, dust, or chemicals.
Normally, your immune system defends your body against foreign or harmful substances. For example, it sends special cells to protect organs that are in danger.
These cells release chemicals that recruit other cells to isolate and destroy the harmful substance. Inflammation occurs during this process. Once the harmful substance is gone, the cells and the inflammation go away.
In people who have sarcoidosis, the inflammation doesn't go away. Instead, some of the immune system cells cluster to form lumps called granulomas in various organs in your body.
Genetics also may play a role in sarcoidosis. Researchers believe that sarcoidosis occurs if:
You have a certain gene or genes that raise your risk for the disease
And
You're exposed to something that triggers your immune system
Triggers may vary depending on your genetic makeup. Certain genes may influence which organs are affected and the severity of your symptoms.
Researchers continue to try to pinpoint the genes that are linked to sarcoidosis. |
symptoms | What are the symptoms of IMAGe syndrome ? | What are the signs and symptoms of IMAGe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IMAGe 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 adrenal glands 90% Abnormality of the upper urinary tract 90% Cryptorchidism 90% Depressed nasal bridge 90% Displacement of the external urethral meatus 90% Frontal bossing 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Muscular hypotonia 90% Macrocephaly 5% Adrenal hypoplasia - Autosomal dominant inheritance - Delayed skeletal maturation - Epiphyseal dysplasia - Growth hormone deficiency - Hypercalcemia - Hypercalciuria - Hypospadias - Low-set ears - Metaphyseal dysplasia - Micropenis - Postnatal growth retardation - Prominent forehead - Short nose - 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 spastic paraplegia type 2 ? | Mutations in the PLP1 gene cause spastic paraplegia 2. The PLP1 gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the brain and spinal cord (central nervous system) and are the main proteins found in myelin, the fatty covering that insulates nerve fibers. A lack of proteolipid protein 1 and DM20 can cause a reduction in the formation of myelin (dysmyelination) which can impair nervous system function, resulting in the signs and symptoms of spastic paraplegia type 2. |
inheritance | Is Hereditary cerebral hemorrhage with amyloidosis inherited ? | Since I have a family history of hereditary cerebral hemorrhage with amyloidosis, what are the chances that I inherited the condition? To find out your chances of having hereditary cerebral hemorrhage with amyloidosis, you may want to speak with a genetics professional. A genetics professionl can review your medical and family history in order to provide you with your specific risks. To learn more about genetic consultations, click here. |
treatment | What are the treatments for Thrombocytopenia ? | Treatment for thrombocytopenia depends on its cause and severity. The main goal of treatment is to prevent death and disability caused by bleeding.
If your condition is mild, you may not need treatment. A fully normal platelet count isn't necessary to prevent bleeding, even with severe cuts or accidents.
Thrombocytopenia often improves when its underlying cause is treated. People who inherit the condition usually don't need treatment.
If a reaction to a medicine is causing a low platelet count, your doctor may prescribe another medicine. Most people recover after the initial medicine has been stopped. For heparin-induced thrombocytopenia (HIT), stopping the heparin isn't enough. Often, you'll need another medicine to prevent blood clotting.
If your immune system is causing a low platelet count, your doctor may prescribe medicines to suppress the immune system.
Severe Thrombocytopenia
If your thrombocytopenia is severe, your doctor may prescribe treatments such as medicines, blood or platelet transfusions, or splenectomy.
Medicines
Your doctor may prescribe corticosteroids, also called steroids for short. Steroids may slow platelet destruction. These medicines can be given through a vein or by mouth. One example of this type of medicine is prednisone.
The steroids used to treat thrombocytopenia are different from illegal steroids taken by some athletes to enhance performance.
Your doctor may prescribe immunoglobulins or medicines like rituximab to block your immune system. These medicines are given through a vein. He or she also may prescribe other medicines, such as eltrombopag or romiplostim, to help your body make more platelets. The former comes as a tablet to take by mouth and the latter is given as an injection under the skin.
Blood or Platelet Transfusions
Blood or platelet transfusions are used to treat people who have active bleeding or are at a high risk of bleeding. During this procedure, a needle is used to insert an intravenous (IV) line into one of your blood vessels. Through this line, you receive healthy blood or platelets.
For more information about this procedure, go to the Health Topics Blood Transfusion article.
Splenectomy
A splenectomy is surgery to remove the spleen. This surgery may be used if treatment with medicines doesn't work. This surgery mostly is used for adults who have immune thrombocytopenia (ITP). However, medicines often are the first course of treatment. |
treatment | What are the treatments for ophthalmo-acromelic syndrome ? | These resources address the diagnosis or management of ophthalmo-acromelic syndrome: - Genetic Testing Registry: Anophthalmos with limb anomalies 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 |
inheritance | Is spastic paraplegia type 15 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 myofibrillar myopathy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. |
exams and tests | How to diagnose Charcot-Marie-Tooth disease type 2F ? | Is genetic testing available for Charcot-Marie-Tooth disease type 2F? Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. Please note that 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. |
symptoms | What are the symptoms of Multiple endocrine neoplasia type 1 ? | What are the signs and symptoms of Multiple endocrine neoplasia type 1? Multiple endocrine neoplasia, type 1 (MEN1) is characterized primarily by several different types of endocrine tumors. People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often "functional" and secrete excess hormones, which causes many of the different signs and symptoms of the condition. A variety of non-endocrine tumors are also found in MEN1, including lipomas (fatty tumors); and tumors of the skin or the central nervous system (brain and spinal cord). Signs and symptoms of MEN1 vary and largely depend on which endocrine glands are affected: Parathyroid tumors are present in 90% of people with MEN1 by age 20-25 years and may cause fatigue, depression, weight loss, constipation, nausea, vomiting, dehydration, kidney stones, fragile bones, and hypertension. Pituitary tumors can lead to headaches, vision problems, nausea and vomiting. In women, menstrual periods may become irregular or stop completely. Men may have decreased fertility, diminished sexual desire, and/or erectile dysfunction. Stomach, bowel or pancreas (also called the gastro-entero-pancreatic, or GEP tract) tumors can cause high blood sugar, weight loss, glossitis, anemia, diarrhea, blood clots, and skin rash. Adrenal tumors can cause a variety of symptoms depending on the type of hormones they secrete, including high blood pressure, irregular heartbeat, panic attacks, headaches, diabetes, abdominal pain, weakness, excessive hair growth, and stretch marks. Carcinoid tumors (slow-growing tumors that usually begin in the lining of the lungs or the digestive tract can cause flushing of the face and upper chest; diarrhea; and trouble breathing. The tumors that develop in MEN1 are often benign; however, in some cases, they can become malignant (cancerous). Gastrinomas (a specific type of GEP tract tumor) and carcinoid tumors are the most likely to advance to cancer. The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Exocrine pancreatic insufficiency 90% Hypercalcemia 90% Hyperparathyroidism 90% Abnormality of the gastric mucosa 50% Abnormality of the thyroid gland 50% Hypercortisolism 50% Multiple lipomas 50% Adenoma sebaceum - Adrenocortical adenoma - Autosomal dominant inheritance - Cafe-au-lait spot - Carcinoid tumor - Confetti-like hypopigmented macules - Diarrhea - Esophagitis - Glucagonoma - Growth hormone excess - Hypoglycemia - Insulinoma - Parathyroid adenoma - Peptic ulcer - Pituitary adenoma - Pituitary prolactin cell adenoma - Subcutaneous lipoma - Zollinger-Ellison syndrome - 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 pulmonary veno-occlusive disease ? | The primary genetic cause of PVOD is mutations in the EIF2AK4 gene. Mutations in other genes may cause a small percentage of cases. Other suspected causes of PVOD include viral infection and exposure to toxic chemicals, including certain chemotherapy drugs. The protein produced from the EIF2AK4 gene helps cells respond appropriately to changes that could damage the cell. For example, when the level of protein building blocks (amino acids) in a cell falls too low, the activity of the EIF2AK4 protein helps reduce the production of other proteins, which conserves amino acids. The EIF2AK4 gene mutations involved in PVOD likely eliminate functional EIF2AK4 protein; however, it is unknown how absence of this protein's function leads to the pulmonary vessel abnormalities that underlie PVOD. |
outlook | What is the outlook for Sleep Apnea ? | Untreated, sleep apnea can be life threatening. Excessive daytime sleepiness can cause people to fall asleep at inappropriate times, such as while driving. Sleep apnea also appears to put individuals at risk for stroke and transient ischemic attacks (TIAs, also known as mini-strokes), and is associated with coronary heart disease, heart failure, irregular heartbeat, heart attack, and high blood pressure. Although there is no cure for sleep apnea, recent studies show that successful treatment can reduce the risk of heart and blood pressure problems. |
information | What is (are) Low Vision ? | Low vision is a visual impairment, not correctable by standard glasses, contact lenses, medicine, or surgery, that interferes with a person's ability to perform everyday activities. (Watch the video to learn more about low vision. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) |
treatment | What are the treatments for Diabetes, Heart Disease, and Stroke ? | You can keep track of the ABCs of diabetes to make sure your treatment is working. Talk with your health care provider about the best targets for you.
A stands for A1C (a test that measures blood glucose control). Have an A1C test at least twice a year. It shows your average blood glucose level over the past 3 months. Talk with your doctor about whether you should check your blood glucose at home and how to do it.
A1C target Below 7 percent, unless your doctor sets a different target
Blood glucose targets Before meals 90 to 130 mg/dL 1 to 2 hours after the start of a meal Less than 180 mg/dL
B is for blood pressure. Have it checked at every office visit.
Blood pressure target Below 140/80 mm Hg, unless your doctor sets a different target
C is for cholesterol. Have it checked at least once a year.
Blood fat (cholesterol) targets LDL (bad) cholesterol Under 100 mg/dL Triglycerides Under 150 mg/dL HDL (good) cholesterol For men: above 40 mg/dL For women: above 50 mg/dL
Control of the ABCs of diabetes can reduce your risk for heart disease and stroke. If your blood glucose, blood pressure, and cholesterol levels aren't on target, ask your doctor what changes in diet, activity, and medications can help you reach these goals. |
treatment | What are the treatments for Gerstmann-Straussler-Scheinker Disease ? | There is no cure for GSS, nor are there any known treatments to slow progression of the disease. Current therapies are aimed at alleviating symptoms and making the patient as comfortable as possible. |
inheritance | Is Fanconi anemia inherited ? | Fanconi anemia is most often 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. Very rarely, this condition is inherited in an X-linked recessive pattern. The gene associated with X-linked recessive Fanconi anemia is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. |
exams and tests | How to diagnose Pernicious Anemia ? | Your doctor will diagnose pernicious anemia based on your medical and family histories, a physical exam, and test results.
Your doctor will want to find out whether the condition is due to a lack of intrinsic factor or another cause. He or she also will want to find out the severity of the condition, so it can be properly treated.
Specialists Involved
Primary care doctorssuch as family doctors, internists, and pediatricians (doctors who treat children)often diagnose and treat pernicious anemia. Other kinds of doctors also may be involved, including:
A neurologist (nervous system specialist)
A cardiologist (heart specialist)
A hematologist (blood disease specialist)
A gastroenterologist (digestive tract specialist)
Medical and Family Histories
Your doctor may ask about your signs and symptoms. He or she also may ask:
Whether you've had any stomach or intestinal surgeries
Whether you have any digestive disorders, such as celiac disease or Crohn's disease
About your diet and any medicines you take
Whether you have a family history of anemia or pernicious anemia
Whether you have a family history of autoimmune disorders (such as Addison's disease, type 1 diabetes, Graves' disease, or vitiligo). Research suggests a link may exist between these autoimmune disorders and pernicious anemia that's caused by an autoimmune response.
Physical Exam
During the physical exam, your doctor may check for pale or yellowish skin and an enlarged liver. He or she may listen to your heart for rapid or irregular heartbeats or a heart murmur.
Your doctor also may check for signs of nerve damage. He or she may want to see how well your muscles, eyes, senses, and reflexes work. Your doctor may ask questions or do tests to check your mental status, coordination, and ability to walk.
Diagnostic Tests and Procedures
Blood tests and procedures can help diagnose pernicious anemia and find out what's causing it.
Complete Blood Count
Often, the first test used to diagnose many types of anemia is a complete blood count (CBC). This test measures many parts of your blood. For this test, a small amount of blood is drawn from a vein (usually in your arm) using a needle.
A CBC checks your hemoglobin (HEE-muh-glow-bin) and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is an iron-rich protein that helps red blood cells carry oxygen from the lungs to the rest of the body. Hematocrit is a measure of how much space red blood cells take up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia.
The normal range of these levels may be lower in certain racial and ethnic populations. Your doctor can explain your test results to you.
The CBC also checks the number of red blood cells, white blood cells, and platelets (PLATE-lets) in your blood. Abnormal results may be a sign of anemia, another blood disorder, an infection, or another condition.
Finally, the CBC looks at mean corpuscular (kor-PUS-kyu-lar) volume (MCV). MCV is a measure of the average size of your red blood cells. MCV can be a clue as to what's causing your anemia. In pernicious anemia, the red blood cells tend to be larger than normal.
Other Blood Tests
If the CBC results confirm that you have anemia, you may need other blood tests to find out what type of anemia you have.
A reticulocyte (re-TIK-u-lo-site) count measures the number of young red blood cells in your blood. The test shows whether your bone marrow is making red blood cells at the correct rate. People who have pernicious anemia have low reticulocyte counts.
Serum folate, iron, and iron-binding capacity tests also can help show whether you have pernicious anemia or another type of anemia.
Another common test, called the Combined Binding Luminescence Test, sometimes gives false results. Scientists are working to develop a more reliable test.
Your doctor may recommend other blood tests to check:
Your vitamin B12 level. A low level of vitamin B12 in the blood indicates pernicious anemia. However, a falsely normal or high value of vitamin B12 in the blood may occur if antibodies interfere with the test.
Your homocysteine and methylmalonic acid (MMA) levels. High levels of these substances in your body are a sign of pernicious anemia.
For intrinsic factor antibodies and parietal cell antibodies. These antibodies also are a sign of pernicious anemia.
Bone Marrow Tests
Bone marrow tests can show whether your bone marrow is healthy and making enough red blood cells. The two bone marrow tests are aspiration (as-pi-RA-shun) and biopsy.
For aspiration, your doctor removes a small amount of fluid bone marrow through a needle. For a biopsy, your doctor removes a small amount of bone marrow tissue through a larger needle. The samples are then examined under a microscope.
In pernicious anemia, the bone marrow cells that turn into blood cells are larger than normal. |
information | What is (are) 11-beta-hydroxylase deficiency ? | Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the CYP11B1 gene and is inherited in an autosomal recessive pattern. There are two types, the classic form and the non-classic form. Females with the classic form have ambiguous external genitalia with normal internal reproductive organs. Males and females with the classic form have early development of their secondary sexual characteristics (precocious puberty). The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. About two-thirds of individuals with the classic form have high blood pressure which develops in the first year of life. |
frequency | How many people are affected by Huntington disease ? | Huntington disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent. |
frequency | How many people are affected by neuromyelitis optica ? | Neuromyelitis optica affects approximately 1 to 2 per 100,000 people worldwide. Women are affected by this condition more frequently than men. |
symptoms | What are the symptoms of Osteogenesis imperfecta type VII ? | What are the signs and symptoms of Osteogenesis imperfecta type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VII. 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) Absent pulmonary artery - Autosomal recessive inheritance - Blue sclerae - Bowing of the legs - Breech presentation - Coxa vara - Crumpled long bones - Death in infancy - Decreased calvarial ossification - Delayed cranial suture closure - Externally rotated/abducted legs - Hydronephrosis - Hypoplastic pulmonary veins - Long philtrum - Micromelia - Multiple prenatal fractures - Multiple rib fractures - Narrow chest - Osteopenia - Pectus excavatum - Proptosis - Protrusio acetabuli - Recurrent fractures - Rhizomelia - Round face - Scoliosis - Vertebral compression fractures - Wide anterior fontanel - Wide cranial sutures - Wormian 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) Tylosis with esophageal cancer ? | Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. |
considerations | What to do for Kidney Disease of Diabetes ? | - Diabetes is the leading cause of chronic kidney disease (CKD) and kidney failure in the United States. - People with diabetes should be screened regularly for kidney disease. The two key markers for kidney disease are estimated glomerular filtration rate (eGFR) and urine albumin. - Drugs used to lower blood pressure can slow the progression of kidney disease significantly. Two types of drugs, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. - In people with diabetes, excessive consumption of protein may be harmful. - Intensive management of blood glucose has shown great promise for people with diabetes, especially for those in the early stages of CKD. |
frequency | How many people are affected by familial restrictive cardiomyopathy ? | The prevalence of familial restrictive cardiomyopathy is unknown. Although cardiomyopathy is a relatively common condition, restrictive cardiomyopathy, in which relaxation of the heart muscle is impaired, is the least common type. Some other forms of cardiomyopathy involve a weak or enlarged heart muscle with impaired contraction. In the United States and in Europe, restrictive cardiomyopathy accounts for less than five percent of all cardiomyopathies. The proportion of restrictive cardiomyopathy that runs in families is not known. |
susceptibility | Who is at risk for Osteoporosis? ? | Risk Factors You Can't Change Some risk factors for osteoporosis cannot be changed. These include - Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. Therefore, if you are a woman, you are at higher risk for osteoporosis. - Age. Because bones become thinner with age, the older you are, the greater your risk of osteoporosis. - Ethnicity. Caucasian and Asian women are at the highest risk for osteoporosis. This is mainly due to differences in bone mass and density compared with other ethnic groups. African-American and Hispanic women are also at risk, but less so. - Family History. Osteoporosis tends to run in families. If a family member has osteoporosis or breaks a bone, there is a greater chance that you will too. - History of Previous Fracture. People who have had a fracture after the age of 50 are at high risk of having another. Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. Therefore, if you are a woman, you are at higher risk for osteoporosis. Age. Because bones become thinner with age, the older you are, the greater your risk of osteoporosis. Ethnicity. Caucasian and Asian women are at the highest risk for osteoporosis. This is mainly due to differences in bone mass and density compared with other ethnic groups. African-American and Hispanic women are also at risk, but less so. Family History. Osteoporosis tends to run in families. If a family member has osteoporosis or breaks a bone, there is a greater chance that you will too. History of Previous Fracture. People who have had a fracture after the age of 50 are at high risk of having another. Risk Factors You Can Change There are other risk factors for osteoporosis that can be changed. - Poor diet. Getting too little calcium over your lifetime can increase your risk for osteoporosis. Not getting enough vitamin D -- either from your diet, supplements, or sunlight -- can also increase your risk for osteoporosis. Vitamin D is important because it helps the body absorb calcium. An overall diet adequate in protein and other vitamins and minerals is also essential for bone health. - Physical inactivity. Not exercising and being inactive or staying in bed for long periods can increase your risk of developing osteoporosis. Like muscles, bones become stronger with exercise. - Smoking. Cigarette smokers may absorb less calcium from their diets. In addition, women who smoke have lower levels of estrogen in their bodies. Learn more about smoking and bone health. Poor diet. Getting too little calcium over your lifetime can increase your risk for osteoporosis. Not getting enough vitamin D -- either from your diet, supplements, or sunlight -- can also increase your risk for osteoporosis. Vitamin D is important because it helps the body absorb calcium. An overall diet adequate in protein and other vitamins and minerals is also essential for bone health. Physical inactivity. Not exercising and being inactive or staying in bed for long periods can increase your risk of developing osteoporosis. Like muscles, bones become stronger with exercise. Smoking. Cigarette smokers may absorb less calcium from their diets. In addition, women who smoke have lower levels of estrogen in their bodies. Learn more about smoking and bone health. - Medications. Some commonly used medicines can cause loss of bone mass. These include a type of steroid called glucocorticoids, which are used to control diseases such as arthritis and asthma; some antiseizure drugs; some medicines that treat endometriosis; and some cancer drugs. Using too much thyroid hormone for an underactive thyroid can also be a problem. Talk to your doctor about the medications you are taking and what you can do to protect your bones. - Low body weight. Women who are thin -- and small-boned -- are at greater risk for osteoporosis. Medications. Some commonly used medicines can cause loss of bone mass. These include a type of steroid called glucocorticoids, which are used to control diseases such as arthritis and asthma; some antiseizure drugs; some medicines that treat endometriosis; and some cancer drugs. Using too much thyroid hormone for an underactive thyroid can also be a problem. Talk to your doctor about the medications you are taking and what you can do to protect your bones. Low body weight. Women who are thin -- and small-boned -- are at greater risk for osteoporosis. Use this checklist to find out if you are at risk for weak bones. Many of these risk factors, both ones you can change and ones you cannot change, affect peak bone mass, which is when your bones achieve maximum strength and density. Because high peak bone density can reduce osteoporosis risk later in life, it makes sense to pay more attention to those factors that affect peak bone mass. Learn more about peak bone mass. |
information | What is (are) Fistulas ? | A fistula is an abnormal connection between two parts inside of the body. Fistulas may develop between different organs, such as between the esophagus and the windpipe or the bowel and the vagina. They can also develop between two blood vessels, such as between an artery and a vein or between two arteries. Some people are born with a fistula. Other common causes of fistulas include - Complications from surgery - Injury - Infection - Diseases, such as Crohn's disease or ulcerative colitis Treatment depends on the cause of the fistula, where it is, and how bad it is. Some fistulas will close on their own. In some cases, you may need antibiotics and/or surgery. |
symptoms | What are the symptoms of Irritable Bowel Syndrome in Children ? | The symptoms of IBS include abdominal pain or discomfort and changes in bowel habits. To meet the definition of IBS, the pain or discomfort should be associated with two of the following three symptoms:
- start with bowel movements that occur more or less often than usual - start with stool that appears looser and more watery or harder and more lumpy than usual - improve with a bowel movement
Other symptoms of IBS may include
- diarrheahaving loose, watery stools three or more times a day and feeling urgency to have a bowel movement - constipationhaving hard, dry stools; two or fewer bowel movements in a week; or straining to have a bowel movement - feeling that a bowel movement is incomplete - passing mucus, a clear liquid made by the intestines that coats and protects tissues in the GI tract - abdominal bloating
Symptoms may often occur after eating a meal. To meet the definition of IBS, symptoms must occur at least once per week for at least 2 months. |
research | what research (or clinical trials) is being done for CADASIL ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH) and through grants to major medical institutions across the country. Scientists are currently studying different drugs to reduce cognitive problems seen in patients with CADASIL. Researchers are also looking at ways to overcome an over-reaction to hormones that lead to high blood pressure and poor blood supply in patients with CADASIL. |
treatment | What are the treatments for Stormorken syndrome ? | These resources address the diagnosis or management of Stormorken syndrome: - Genetic Testing Registry: Stormorken 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 |
genetic changes | What are the genetic changes related to thrombotic thrombocytopenic purpura ? | Mutations in the ADAMTS13 gene cause the familial form of thrombotic thrombocytopenic purpura. The ADAMTS13 gene provides instructions for making an enzyme that is involved in the normal process of blood clotting. Mutations in this gene lead to a severe reduction in the activity of this enzyme. The acquired form of thrombotic thrombocytopenic purpura also results from a reduction in ADAMTS13 enzyme activity; however, people with the acquired form do not have mutations in the ADAMTS13 gene. Instead, their immune systems often produce specific proteins called autoantibodies that block the activity of the enzyme. A lack of ADAMTS13 enzyme activity disrupts the usual balance between bleeding and clotting. Normally, blood clots form at the site of an injury to seal off damaged blood vessels and prevent excess blood loss. In people with thrombotic thrombocytopenic purpura, clots form throughout the body as platelets bind together abnormally and stick to the walls of blood vessels. These clots can block small blood vessels, causing organ damage and the other features of thrombotic thrombocytopenic purpura. Researchers believe that other genetic or environmental factors may contribute to the signs and symptoms of thrombotic thrombocytopenic purpura. In people with reduced ADAMTS13 enzyme activity, factors such as pregnancy, surgery, and infection may trigger abnormal blood clotting and its associated complications. |
inheritance | Is congenital central hypoventilation syndrome 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. More than 90 percent of cases of CCHS result from new mutations in the PHOX2B gene. These cases occur in people with no history of the disorder in their family. Occasionally an affected person inherits the mutation from one affected parent. The number of such cases has been increasing as better treatment has allowed more affected individuals to live into adulthood. About 5 to 10 percent of affected individuals inherit the mutation from a seemingly unaffected parent with somatic mosaicism. Somatic mosaicism means that some of the body's cells have a PHOX2B gene mutation, and others do not. A parent with mosaicism for a PHOX2B gene mutation may not show any signs or symptoms of CCHS. |
information | What is (are) X-linked juvenile retinoschisis ? | X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis. X-linked juvenile retinoschisis is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) begin in infancy. Other early features of X-linked juvenile retinoschisis include eyes that do not look in the same direction (strabismus) and farsightedness (hyperopia). Visual acuity often declines in childhood and adolescence but then stabilizes throughout adulthood until a significant decline in visual acuity typically occurs in a man's fifties or sixties. Sometimes, severe complications develop, such as separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness. |
treatment | What are the treatments for Romano-Ward syndrome ? | These resources address the diagnosis or management of Romano-Ward syndrome: - Gene Review: Gene Review: Long QT Syndrome - Genetic Testing Registry: Long QT syndrome 1 - Genetic Testing Registry: Romano-Ward syndrome - MedlinePlus Encyclopedia: Arrhythmias 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 |
inheritance | Is nonsyndromic aplasia cutis congenita inherited ? | Most cases of nonsyndromic aplasia cutis congenita are sporadic, which means they occur in people with no history of the disorder in their family. When the condition runs in families, inheritance usually follows an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Rarely, the condition appears to follow an autosomal recessive pattern of inheritance, which means both copies of a 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) Behcet's disease ? | Behcet's disease is a chronic multisystem inflammatory disorder characterized by ulcers affecting the mouth and genitals, various skin lesions, and abnormalities affecting the eyes. In some people, the disease also results in arthritis (swollen, painful, stiff joints), skin problems, and inflammation of the digestive tract, brain, and spinal cord. Although it can happen at any age, symptoms generally begin when individuals are in their 20s or 30s. The disease is common in Japan, Turkey and Israel, and less common in the United States. The exact cause of Behcet's disease is still unknown. Treatment is symptomatic and supportive. Experience is evolving with the use of interferon-alpha and with agents which inhibit tumor necrosis factor (TNF) in the treatment of Behets disease. Behcet's disease is a lifelong disorder that comes and goes. Spontaneous remission over time is common for individuals with Behets disease but permanent remission of symptoms has not been reported. |
treatment | What are the treatments for glycogen storage disease type IV ? | These resources address the diagnosis or management of glycogen storage disease type IV: - Gene Review: Gene Review: Glycogen Storage Disease Type IV - Genetic Testing Registry: Glycogen storage disease, type IV - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - MedlinePlus Encyclopedia: Failure to Thrive 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) Enlarged Prostate (BPH) ? | The prostate is a gland in men. It helps make semen, the fluid that contains sperm. The prostate surrounds the tube that carries urine out of the body. As men age, their prostate grows bigger. If it gets too large, it can cause problems. An enlarged prostate is also called benign prostatic hyperplasia (BPH). Most men will get BPH as they get older. Symptoms often start after age 50. BPH is not cancer, and it does not seem to increase your chance of getting prostate cancer. But the early symptoms are the same. Check with your doctor if you have - A frequent and urgent need to urinate, especially at night - Trouble starting a urine stream or making more than a dribble - A urine stream that is weak, slow, or stops and starts several times - The feeling that you still have to go, even just after urinating - Small amounts of blood in your urine Severe BPH can cause serious problems over time, such as urinary tract infections, and bladder or kidney damage. If it is found early, you are less likely to develop these problems. Tests for BPH include a digital rectal exam, blood and imaging tests, a urine flow study, and examination with a scope called a cystoscope. Treatments include watchful waiting, medicines, nonsurgical procedures, and surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
information | What is (are) Sandhoff disease ? | Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Sandhoff disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Some affected children also have enlarged organs (organomegaly) or bone abnormalities. Children with the severe infantile form of Sandhoff disease usually live only into early childhood. Other forms of Sandhoff disease are very rare. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Sandhoff disease. |
research | what research (or clinical trials) is being done for Wallenberg's Syndrome ? | The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Wallenbergs syndrome in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Wallenbergs syndrome. |
symptoms | What are the symptoms of Mondini dysplasia ? | What are the signs and symptoms of Mondini dysplasia? Mondini dysplasia is a congenital malformation (present at birth). It may occur either unilaterally (in one ear) or bilaterally (in both ears). Most affected individuals have profound sensorineural hearing loss, but some individuals do have residual hearing. There have also been reports of affected individuals having normal hearing. Mondini dysplasia can also predispose to recurrent meningitis because the defect can act as a "port of entry" to the fluid that surrounds the brain and spinal cord (cerebrospinal fluid, or CSF). Sometimes, individuals are not diagnosed before several episodes of recurrent meningitis occur. The condition may occur with other abnormalities of the ear or other organs, or it may be isolated. The severity of the physical abnormality does not appear to correlate with the severity of the signs and symptoms in affected individuals. |
inheritance | Is Amish lethal microcephaly 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. |
symptoms | What are the symptoms of Biotin-thiamine-responsive basal ganglia disease ? | What are the signs and symptoms of Biotin-thiamine-responsive basal ganglia disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Biotin-thiamine-responsive basal ganglia 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) Abnormality of the basal ganglia - Autosomal recessive inheritance - Babinski sign - Coma - Confusion - Craniofacial dystonia - Dysarthria - Dysphagia - Encephalopathy - External ophthalmoplegia - Fever - Gait ataxia - Inability to walk - Irritability - Juvenile onset - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Mutism - Nystagmus - Paraparesis - Ptosis - Rigidity - 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. |
treatment | What are the treatments for hypermanganesemia with dystonia, polycythemia, and cirrhosis ? | These resources address the diagnosis or management of HMDPC: - Gene Review: Gene Review: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease - Genetic Testing Registry: Hypermanganesemia with dystonia, polycythemia and cirrhosis 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) Ulcerative Colitis ? | The large intestine is part of the GI tract, a series of hollow organs joined in a long, twisting tube from the mouth to the anusan opening through which stool leaves the body. The last part of the GI tract, called the lower GI tract, consists of the large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The intestines are sometimes called the bowel.
The large intestine is about 5 feet long in adults and absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is located between the lower, or sigmoid, colon and the anus. The rectum stores stool prior to a bowel movement, when stool moves from the rectum to the anus and out of a person's body. |
frequency | How many people are affected by polycythemia vera ? | The prevalence of polycythemia vera varies worldwide. The condition affects an estimated 44 to 57 per 100,000 individuals in the United States. For unknown reasons, men develop polycythemia vera more frequently than women. |
information | What is (are) CHST3-related skeletal dysplasia ? | CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot (clubfoot), a limited range of motion in large joints, and abnormal curvature of the spine. The features of CHST3-related skeletal dysplasia are usually limited to the bones and joints; however, minor heart defects have been reported in a few affected individuals. Researchers have not settled on a preferred name for this condition. It is sometimes known as autosomal recessive Larsen syndrome based on its similarity to another skeletal disorder called Larsen syndrome. Other names that have been used to describe the condition include spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. Recently, researchers have proposed the umbrella term CHST3-related skeletal dysplasia to refer to bone and joint abnormalities resulting from mutations in the CHST3 gene. |
information | What is (are) Alexander Disease ? | Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the white matter that protects nerve fibers in the brain. Alexander disease is a progressive and often fatal disease. The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes. Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in Alexander disease. The infantile form is the most common type of Alexander disease. It has an onset during the first two years of life. Usually there are both mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease is less common and has an onset between the ages of two and thirteen. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinsons disease or multiple sclerosis, or may present primarily as a psychiatric disorder. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution. |
genetic changes | What are the genetic changes related to cri-du-chat syndrome ? | Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri-du-chat syndrome. |
treatment | What are the treatments for tetrahydrobiopterin deficiency ? | These resources address the diagnosis or management of tetrahydrobiopterin deficiency: - Baby's First Test: Biopterin Defect in Cofactor Biosynthesis - Baby's First Test: Biopterin Defect in Cofactor Regeneration - Genetic Testing Registry: 6-pyruvoyl-tetrahydropterin synthase deficiency - Genetic Testing Registry: Dihydropteridine reductase deficiency - Genetic Testing Registry: GTP cyclohydrolase I deficiency - Genetic Testing Registry: Hyperphenylalaninemia, BH4-deficient, D - MedlinePlus Encyclopedia: Serum Phenylalanine Screening 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 Syndrome of inappropriate antidiuretic hormone ? | How might the syndrome of inappropriate antidiuretic hormone be treated? Treatment of syndrome of inappropriate antidiuretic hormone (SIADH) may involve fluid restriction, treatment of the underlying cause once determined, and medication that decreases the effect of antidiuretic hormone on the kidneys. |
treatment | What are the treatments for Ehlers-Danlos syndrome, vascular type ? | How might Ehlers-Danlos syndrome, vascular type be treated? The treatment and management of Ehlers-Danlos syndrome (EDS), vascular type is focused on relieving associated signs and symptoms and preventing serious complications. For example, people with EDS, vascular type have tissue fragility that puts them at high risk for rupture of arteries, muscles and internal organs. It is, therefore, important to seek immediate medical attention for any sudden, unexplained pain as emergency surgery may be indicated. Pregnant women with EDS, vascular type should be followed by a maternal-fetal specialists at a high-risk perinatal center. Periodic screening may be recommended to diagnose aneurysms or other problems that may not be associated with obvious symptoms. People with the EDS, vascular type should also minimize risk of injury by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged. GeneReview's Web site offers more specific information about the treatment and management of EDS, vascular type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan. |
inheritance | Is 22q13.3 deletion syndrome inherited ? | Most cases of 22q13.3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the chromosome deletion to their children. When 22q13.3 deletion syndrome is inherited, its inheritance pattern is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. About 15 to 20 percent of people with 22q13.3 deletion syndrome inherit a chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from one chromosome has traded places with a segment from another chromosome, but no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 22q13.3 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the long arm of chromosome 22, which results in the health problems characteristic of this disorder. |
information | What is (are) Neurologic Diseases ? | The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood. There are more than 600 neurologic diseases. Major types include - Diseases caused by faulty genes, such as Huntington's disease and muscular dystrophy - Problems with the way the nervous system develops, such as spina bifida - Degenerative diseases, where nerve cells are damaged or die, such as Parkinson's disease and Alzheimer's disease - Diseases of the blood vessels that supply the brain, such as stroke - Injuries to the spinal cord and brain - Seizure disorders, such as epilepsy - Cancer, such as brain tumors - infections, such as meningitis |
inheritance | Is Adenoid cystic carcinoma inherited ? | Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of the sublingual salivary gland. While ACC appears to generally be sporadic (occurring in people with no family history of ACC), there has been speculation about a possible linkage between salivary gland cancers in general and inherited BRCA gene mutations. However, this potential link needs further investigation. There has also been one report of a case of ACC of the salivary gland occurring in a person with basal cell nevus syndrome, a hereditary syndrome known to predispose affected people to a very wide range of tumors. |
treatment | What are the treatments for hyperphosphatemic familial tumoral calcinosis ? | These resources address the diagnosis or management of hyperphosphatemic familial tumoral calcinosis: - Genetic Testing Registry: Tumoral calcinosis, familial, hyperphosphatemic 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 |
inheritance | Is Miyoshi myopathy 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. |
treatment | What are the treatments for adenosine monophosphate deaminase deficiency ? | These resources address the diagnosis or management of adenosine monophosphate deaminase deficiency: - MedlinePlus Encyclopedia: Muscle aches - MedlinePlus Encyclopedia: Weakness 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 osteoglophonic dysplasia ? | These resources address the diagnosis or management of osteoglophonic dysplasia: - Genetic Testing Registry: Osteoglophonic dysplasia - Seattle Children's Hospital: Dwarfism and Bone Dysplasias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
frequency | How many people are affected by fibrodysplasia ossificans progressiva ? | Fibrodysplasia ossificans progressiva is a very rare disorder, believed to occur in approximately 1 in 2 million people worldwide. Several hundred cases have been reported. |
information | What is (are) Skin Pigmentation Disorders ? | Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the skin make melanin. When these cells become damaged or unhealthy, it affects melanin production. Some pigmentation disorders affect just patches of skin. Others affect your entire body. If your body makes too much melanin, your skin gets darker. Pregnancy, Addison's disease, and sun exposure all can make your skin darker. If your body makes too little melanin, your skin gets lighter. Vitiligo is a condition that causes patches of light skin. Albinism is a genetic condition affecting a person's skin. A person with albinism may have no color, lighter than normal skin color, or patchy missing skin color. Infections, blisters and burns can also cause lighter skin. |
treatment | What are the treatments for dopamine beta-hydroxylase deficiency ? | These resources address the diagnosis or management of dopamine beta-hydroxylase deficiency: - Gene Review: Gene Review: Dopamine Beta-Hydroxylase Deficiency - Genetic Testing Registry: Dopamine beta hydroxylase deficiency - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care |
information | What is (are) Polycythemia vera ? | Polycythemia vera (PV) is a condition characterized by an increased number of red blood cells in the bloodstream. Affected people may also have excess white blood cells and platelets. These extra cells cause the blood to be thicker than normal, increasing the risk for blood clots that can block blood flow in arteries and veins. People with PV have an increased risk of deep vein thrombosis which can cause a pulmonary embolism, heart attack, and stroke. Most cases of PV are not inherited and are acquired during a person's lifetime. In rare cases, the risk for PV runs in families and may be inherited in an autosomal dominant manner. The condition has been associated with mutations in the JAK2 and TET2 genes. |
treatment | What are the treatments for thanatophoric dysplasia ? | These resources address the diagnosis or management of thanatophoric dysplasia: - Gene Review: Gene Review: Thanatophoric Dysplasia - Genetic Testing Registry: Thanatophoric dysplasia type 1 - Genetic Testing Registry: Thanatophoric dysplasia, type 2 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) Niemann-Pick disease type A ? | Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. There is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. Niemann-Pick disease type A is caused by mutations in the SMPD1 gene. It is inherited in an autosomal recessive pattern. |
information | What is (are) Microcephalic osteodysplastic primordial dwarfism type 2 ? | Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner. |
symptoms | What are the symptoms of Ewing sarcoma ? | What are the signs and symptoms of Ewing sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Ewing 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) Ewing's sarcoma - Somatic mutation - 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. |
treatment | What are the treatments for Stroke ? | Surgery Surgery can be used to prevent stroke, to treat stroke, or to repair damage to the blood vessels or malformations in and around the brain. - Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Vascular Interventions In addition to surgery, a variety of techniques have been developed to allow certain vascular problems to be treated from inside the artery using specialized catheters with the goal of improving blood flow. (Vascular is a word that refers to blood vessels, arteries, and veins that carry blood throughout the body.) A catheter is a very thin, flexible tube that can be inserted into one of the major arteries of the leg or arm and then directed through the blood vessels to the diseased artery. Physicians trained in this technique called angiography undergo additional training to treat problems in the arteries of the brain or spinal cord. These physicians are called neurointerventionalists. - Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. - Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. - Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot. Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot. |
information | What is (are) Leukodystrophy ? | Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabb disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis. The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease. |
treatment | What are the treatments for Acromegaly ? | No single treatment is effective for all patients. Treatment should be individualized, and often combined, depending on patient characteristics such as age and tumor size.
If the tumor has not yet invaded surrounding nonpituitary tissues, removal of the pituitary adenoma by an experienced neurosurgeon is usually the first choice. Even if a cure is not possible, surgery may be performed if the patient has symptoms of neurological problems such as loss of peripheral vision or cranial nerve problems. After surgery, hormone levels are measured to determine whether a cure has been achieved. This determination can take up to 8 weeks because IGF-I lasts a long time in the body's circulation. If cured, a patient must be monitored for a long time for increasing GH levels.
If surgery does not normalize hormone levels or a relapse occurs, an endocrinologist should recommend additional drug therapy. With each medication, long-term therapy is necessary because their withdrawal can lead to rising GH levels and tumor re-expansion.
Radiation therapy is generally reserved for patients whose tumors are not completely removed by surgery, who are not good candidates for surgery because of other health problems, or who do not respond adequately to surgery and medication. |
inheritance | Is sialic acid storage disease 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. |
genetic changes | What are the genetic changes related to triple X syndrome ? | People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Triple X syndrome results from an extra copy of the X chromosome in each of a female's cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of the usual 46. An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Some females with triple X syndrome have an extra X chromosome in only some of their cells. This phenomenon is called 46,XX/47,XXX mosaicism. |
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