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Do you have information about Metabolic Panel | Summary : A metabolic panel is a group of tests that measures different chemicals in the blood. These tests are usually done on the fluid (plasma) part of blood. The tests provide information about your body's chemical balance and metabolism. They can give doctors information about your muscles (including the heart), b... |
What is (are) Malabsorption Syndromes ? | Your small intestine does most of the digesting of the foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include - Celiac disease - Lactose intolerance - Short bowel syndrome. This happens after surgery to remov... |
What is (are) Cervical Cancer ? | The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by a virus called HPV. The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. You're at higher risk if you smoke, have had... |
What is (are) Bile Duct Cancer ? | Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes. Bile duct cancer is ... |
What is (are) Seasonal Affective Disorder ? | Some people experience a serious mood change during the winter months, when there is less natural sunlight. This condition is called seasonal affective disorder, or SAD. SAD is a type of depression. It usually lifts during spring and summer. Not everyone with SAD has the same symptoms. They include - Sad, anx... |
What is (are) Vision Impairment and Blindness ? | If you have low vision, eyeglasses, contact lenses, medicine, or surgery may not help. Activities like reading, shopping, cooking, writing, and watching TV may be hard to do. The leading causes of low vision and blindness in the United States are age-related eye diseases: macular degeneration, cataract and glaucoma. Ot... |
Do you have information about Water Pollution | Summary : We all need clean water. People need it to grow crops and to operate factories, and for drinking and recreation. Fish and wildlife depend on it to survive. Many different pollutants can harm our rivers, streams, lakes, and oceans. The three most common are soil, nutrients, and bacteria. Rain washes soil i... |
What is (are) Cough ? | Coughing is a reflex that keeps your throat and airways clear. Although it can be annoying, coughing helps your body heal or protect itself. Coughs can be either acute or chronic. Acute coughs begin suddenly and usually last no more than 2 to 3 weeks. Acute coughs are the kind you most often get with a cold, flu, or ac... |
Do you have information about Hazardous Waste | Summary : Even if you use them properly, many chemicals can still harm human health and the environment. When you throw these substances away, they become hazardous waste. Some hazardous wastes come from products in our homes. Our garbage can include such hazardous wastes as old batteries, bug spray cans and paint thin... |
What is (are) Peritoneal Disorders ? | Your peritoneum is the tissue that lines your abdominal wall and covers most of the organs in your abdomen. A liquid, peritoneal fluid, lubricates the surface of this tissue. Disorders of the peritoneum are not common. They include - Peritonitis - an inflammation of the peritoneum - Cancer - Complication... |
What is (are) Hemorrhagic Fevers ? | Viral hemorrhagic fevers (VHFs) are a group of illnesses caused by four families of viruses. These include the Ebola and Marburg, Lassa fever, and yellow fever viruses. VHFs have common features: they affect many organs, they damage the blood vessels, and they affect the body's ability to regulate itself. Some VHFs cau... |
What is (are) Bone Cancer ? | Cancer that starts in a bone is uncommon. Cancer that has spread to the bone from another part of the body is more common. There are three types of bone cancer: - Osteosarcoma - occurs most often between ages 10 and 19. It is more common in the knee and upper arm. - Chondrosarcoma - starts in cartilage, us... |
What is (are) Ovarian Disorders ? | The ovaries are a pair of organs that women have. They are located in the pelvis, one on each side of the uterus. Each ovary is about the size and shape of an almond. The ovaries produce a woman's eggs. If an egg is fertilized by a sperm, a pregnancy can result. Ovaries also make the female hormones estrogen and pro... |
What is (are) Mobility Aids ? | Mobility aids help you walk or move from place to place if you are disabled or have an injury. They include - Crutches - Canes - Walkers - Wheelchairs - Motorized scooters You may need a walker or cane if you are at risk of falling. If you need to keep your body weight off your foot, ankle or kn... |
What is (are) Kidney Cysts ? | A cyst is a fluid-filled sac. There are two types of kidney cysts. Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after man... |
What is (are) Cold Sores ? | Cold sores are caused by a contagious virus called herpes simplex virus (HSV). There are two types of HSV. Type 1 usually causes oral herpes, or cold sores. Type 1 herpes virus infects more than half of the U.S. population by the time they reach their 20s. Type 2 usually affects the genital area Some people have no... |
What is (are) Burns ? | A burn is damage to your body's tissues caused by heat, chemicals, electricity, sunlight or radiation. Scalds from hot liquids and steam, building fires and flammable liquids and gases are the most common causes of burns. Another kind is an inhalation injury, caused by breathing smoke. There are three types of burns... |
Do you have information about Vitamin D | Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin D helps your body absorb calcium. Calcium is one of the main building blocks of bone. A lack of vitamin D can lead to bone diseases such as osteoporosis or rickets. Vitamin D also has a role in your nerve, muscle, and immune sy... |
Do you have information about A1C | Summary : A1C is a blood test for type 2 diabetes and prediabetes. It measures your average blood glucose, or blood sugar, level over the past 3 months. Doctors may use the A1C alone or in combination with other diabetes tests to make a diagnosis. They also use the A1C to see how well you are managing your diabetes. Th... |
Do you have information about Medicare | Summary : Medicare is the U.S. government's health insurance program for people age 65 or older. Some people under age 65 can qualify for Medicare, too. They include those with disabilities, permanent kidney failure, or amyotrophic lateral sclerosis. Medicare helps with the cost of health care. It does not cover all... |
Do you have information about Fires | Summary : Whether a fire happens in your home or in the wild, it can be very dangerous. Fire spreads quickly. There is no time to gather valuables or make a phone call. In just two minutes, a fire can become life-threatening. In five minutes, a home can be engulfed in flames. Heat and smoke from fire can be more dan... |
What is (are) Alpha-1 Antitrypsin Deficiency ? | Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs. Symp... |
What is (are) Autism Spectrum Disorder ? | Autism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout a person's life. It affects how a person acts and interacts with others, communicates, and learns. It includes what used to be known as Asperger syndrome and pervasive developmental disorders.... |
What is (are) Pulmonary Hypertension ? | Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. Over time, your heart weakens and cannot do its j... |
Do you have information about Nursing Homes | Summary : A nursing home is a place for people who don't need to be in a hospital but can't be cared for at home. Most nursing homes have nursing aides and skilled nurses on hand 24 hours a day. Some nursing homes are set up like a hospital. The staff provides medical care, as well as physical, speech and occupatio... |
What is (are) Pressure Sores ? | Pressure sores are areas of damaged skin caused by staying in one position for too long. They commonly form where your bones are close to your skin, such as your ankles, back, elbows, heels and hips. You are at risk if you are bedridden, use a wheelchair, or are unable to change your position. Pressure sores can cause ... |
What is (are) Disabilities ? | Disabilities make it harder to do normal daily activities. They may limit what you can do physically or mentally, or they can affect your senses. Disability doesn't mean unable, and it isn't a sickness. Most people with disabilities can - and do - work, play, learn, and enjoy full, healthy lives. Mobility aids and assi... |
Do you have information about Ebola | Summary : Ebola hemorrhagic fever is caused by a virus. It is a severe and often fatal disease. It can affect humans and other primates. Researchers believe that the virus first spreads from an infected animal to a human. It can then spread from human to human through direct contact with a patient's blood or secretions... |
What is (are) Divorce ? | Divorce is the legal breakup of a marriage. Like every major life change, divorce is stressful. It affects finances, living arrangements, household jobs, schedules, and more. If the family includes children, they may be deeply affected. |
Do you have information about Safety | Summary : You can't remove all the safety hazards from your life, but you can reduce them. To avoid many major hazards and prepare for emergencies - Keep emergency phone numbers by your telephones - Make a first aid kit for your home - Make a family emergency plan - Install and maintain smoke alarms ... |
What is (are) Spinal Cord Injuries ? | Your spinal cord is a bundle of nerves that runs down the middle of your back. It carries signals back and forth between your body and your brain. A spinal cord injury disrupts the signals. Spinal cord injuries usually begin with a blow that fractures or dislocates your vertebrae, the bone disks that make up your spine... |
Do you have information about Organ Donation | Summary : Organ donation takes healthy organs and tissues from one person for transplantation into another. Experts say that the organs from one donor can save or help as many as 50 people. Organs you can donate include - Internal organs: Kidneys, heart, liver, pancreas, intestines, lungs - Skin - Bone an... |
What is (are) Sweat ? | Sweat is a clear, salty liquid produced by glands in your skin. Sweating is how your body cools itself. You sweat mainly under your arms and on your feet and palms. When sweat mixes with bacteria on your skin, it can cause a smell. Bathing regularly and using antiperspirants or deodorants can help control the odor. ... |
What is (are) Adhesions ? | Adhesions are bands of scar-like tissue. Normally, internal tissues and organs have slippery surfaces so they can shift easily as the body moves. Adhesions cause tissues and organs to stick together. They might connect the loops of the intestines to each other, to nearby organs, or to the wall of the abdomen. They can ... |
What is (are) Child Behavior Disorders ? | All kids misbehave some times. And some may have temporary behavior problems due to stress. For example, the birth of a sibling, a divorce, or a death in the family may cause a child to act out. Behavior disorders are more serious. They involve a pattern of hostile, aggressive, or disruptive behaviors for more than 6 m... |
What is (are) Leukemia ? | Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. There are different types... |
Do you have information about Hurricanes | Summary : A hurricane is a severe type of tropical storm. Hurricanes produce high winds, heavy rains and thunderstorms. Hurricanes can cause tremendous damage. Winds can exceed 155 miles per hour. Hurricanes and tropical storms can also spawn tornadoes and lead to flooding. The high winds and heavy rains can destroy bu... |
What is (are) Moles ? | Moles are growths on the skin. They happen when pigment cells in the skin, called melanocytes, grow in clusters. Moles are very common. Most people have between 10 and 40 moles. A person may develop new moles from time to time, usually until about age 40. In older people, they tend to fade away. Moles are usually pi... |
What is (are) Paralysis ? | Paralysis is the loss of muscle function in part of your body. It happens when something goes wrong with the way messages pass between your brain and muscles. Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. Paralysis of t... |
What is (are) Testicular Cancer ? | Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. You can get cancer in one or both testicles. Testicular cancer mainly affects young men between the ages of 20 and 39. It is also more common in men who - Have had abno... |
What is (are) Heart Valve Diseases ? | Your heart has four valves. Normally, these valves open to let blood flow through or out of your heart, and then shut to keep it from flowing backward. But sometimes they don't work properly. If they don't, you could have - Regurgitation - when blood leaks back through the valve in the wrong direction - Mitral... |
What is (are) Haemophilus Infections ? | Haemophilus is the name of a group of bacteria. There are several types of Haemophilus. They can cause different types of illnesses involving breathing, bones and joints, and the nervous system. One common type, Hib (Haemophilus influenzae type b), causes serious disease. It usually strikes children under 5 years ol... |
What is (are) Giardia Infections ? | Giardiasis is an illness caused by a parasite called Giardia intestinalis. It lives in soil, food, and water. It may also be on surfaces that have been contaminated with waste. You can become infected if you swallow the parasite. You can also get it if you're exposed to human feces (poop) through sexual contact. The... |
Do you have information about B Vitamins | Summary : The B vitamins are - B1 (thiamine) - B2 (riboflavin) - B3 (niacin) - B5 (pantothenic acid) - B6 - B7 (biotin) - B12 - Folic acid These vitamins help the process your body uses to get or make energy from the food you eat. They also help form red blood cells. You can get B vita... |
What is (are) Obesity in Children ? | Obesity means having too much body fat. It is different from being overweight, which means weighing too much. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Children grow at different rates, so it isn't always easy to know when a child is obese or overweight. Ask... |
Do you have information about Newborn Screening | Summary : Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include - Tests on a few drops of blood from pricking the baby's heel. The tests look for inherited disorders. All states test for at least 30 of these conditions... |
What is (are) Family Issues ? | There are many kinds of families. Some have two parents, while others have a single parent. Sometimes there is no parent and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much more than groups of people who share the same genes or the sam... |
What is (are) Complex Regional Pain Syndrome ? | Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. It may happen after an injury, either to a nerve or to tissue in the affected area. Rest and time may only make it worse. Symptoms in the affected area are - Dramatic changes in... |
Do you have information about Traveler's Health | Summary : Traveling can increase your chances of getting sick. A long flight can increase your risk for deep vein thrombosis. Once you arrive, it takes time to adjust to the water, food, and air in another place. Water in developing countries can contain viruses, bacteria, and parasites that cause stomach upset and dia... |
What is (are) Heart Disease in Women ? | In the United States, 1 in 4 women dies from heart disease. The most common cause of heart disease in both men and women is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease, and it happens slowly over time. It's the major rea... |
Do you have information about Pacemakers and Implantable Defibrillators | Summary : An arrhythmia is any disorder of your heart rate or rhythm. It means that your heart beats too quickly, too slowly, or with an irregular pattern. Most arrhythmias result from problems in the electrical system of the heart. If your arrhythmia is serious, you may need a cardiac pacemaker or an implantable cardi... |
What is (are) Bedbugs ? | Bedbugs bite you and feed on your blood. You may have no reaction to the bites, or you may have small marks or itching. Severe allergic reactions are rare. Bedbugs don't transmit or spread diseases. Adult bedbugs are brown, 1/4 to 3/8 inch long, and have a flat, oval-shaped body. Young bedbugs (called nymphs) are sm... |
What is (are) Headache ? | Almost everyone has had a headache. Headache is the most common form of pain. It's a major reason people miss days at work or school or visit the doctor. The most common type of headache is a tension headache. Tension headaches are due to tight muscles in your shoulders, neck, scalp and jaw. They are often related t... |
Do you have information about Tsunamis | Summary : A tsunami is a series of huge ocean waves created by an underwater disturbance. Causes include earthquakes, landslides, volcanic eruptions, or meteorites--chunks of rock from space that strike the surface of Earth. A tsunami can move hundreds of miles per hour in the open ocean. It can smash into land with wa... |
Do you have information about Acupuncture | Summary : Acupuncture has been practiced in China and other Asian countries for thousands of years. Acupuncture involves stimulating specific points on the body. This is most often done by inserting thin needles through the skin, to cause a change in the physical functions of the body. Research has shown that acupun... |
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. The... |
What is (are) Juvenile Arthritis ? | Juvenile arthritis (JA) is arthritis that happens in children. It causes joint swelling, pain, stiffness, and loss of motion. It can affect any joint, but is more common in the knees, hands, and feet. In some cases it can affect internal organs as well. The most common type of JA that children get is juvenile idiopa... |
What is (are) Autonomic Nervous System Disorders ? | Your autonomic nervous system is the part of your nervous system that controls involuntary actions, such as the beating of your heart and the widening or narrowing of your blood vessels. When something goes wrong in this system, it can cause serious problems, including - Blood pressure problems - Heart probl... |
What is (are) Oxygen Therapy ? | Oxygen therapy is a treatment that provides you with extra oxygen. Oxygen is a gas that your body needs to function. Normally, your lungs absorb oxygen from the air you breathe. But some conditions can prevent you from getting enough oxygen. You may need oxygen if you have - COPD (chronic obstructive pulmonary... |
Do you have information about First Aid | Summary : Accidents happen. Someone chokes on an ice cube or gets stung by a bee. It is important to know when to call 9-1-1 -- it is for life-threatening emergencies. While waiting for help to arrive, you may be able to save someone's life. Cardiopulmonary resuscitation (CPR) is for people whose hearts or breathing ha... |
What is (are) Gout ? | Gout is a common, painful form of arthritis. It causes swollen, red, hot and stiff joints. Gout happens when uric acid builds up in your body. Uric acid comes from the breakdown of substances called purines. Purines are in your body's tissues and in foods, such as liver, dried beans and peas, and anchovies. Normally... |
Do you have information about Pet Health | Summary : Pets can add fun, companionship and a feeling of safety to your life. Before getting a pet, think carefully about which animal is best for your family. What is each family member looking for in a pet? Who will take care of it? Does anyone have pet allergies? What type of animal suits your lifestyle and budget... |
What is (are) Kaposi's Sarcoma ? | Kaposi's sarcoma is a cancer that causes patches of abnormal tissue to grow under the skin, in the lining of the mouth, nose, and throat or in other organs. The patches are usually red or purple and are made of cancer cells and blood cells. The red and purple patches often cause no symptoms, though they may be painful.... |
What is (are) H1N1 Flu (Swine Flu) ? | Swine flu is an infection caused by a virus. It's named for a virus that pigs can get. People do not normally get swine flu, but human infections can and do happen. In 2009 a strain of swine flu called H1N1 infected many people around the world. The virus is contagious and can spread from human to human. Symptoms of... |
What is (are) Pituitary Disorders ? | Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the "master control gland" - it makes hormones that affect growth and the functions of other glands in the body. With pituitary disorders, you often have too much or too little of one of your hormones. Injuries can cause pituitary... |
Do you have information about Genes and Gene Therapy | Summary : Genes are the building blocks of inheritance. Passed from parent to child, they contain instructions for making proteins. If genes don't produce the right proteins or don't produce them correctly, a child can have a genetic disorder. Gene therapy is an experimental technique that uses genes to treat or pr... |
Do you have information about African American Health | Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect African Americans. |
What is (are) Parathyroid Disorders ? | Most people have four pea-sized glands, called parathyroid glands, on the thyroid gland in the neck. Though their names are similar, the thyroid and parathyroid glands are completely different. The parathyroid glands make parathyroid hormone (PTH), which helps your body keep the right balance of calcium and phosphorous... |
What is (are) Animal Diseases and Your Health ? | Animal diseases that people can catch are called zoonoses. Many diseases affecting humans can be traced to animals or animal products. You can get a disease directly from an animal, or indirectly, through the environment. Farm animals can carry diseases. If you touch them or things they have touched, like fencing or... |
Do you have information about Vitamin A | Summary : Vitamins are substances that your body needs to grow and develop normally. Vitamin A plays a role in your - Vision - Bone growth - Reproduction - Cell functions - Immune system Vitamin A is an antioxidant. It can come from plant or animal sources. Plant sources include colorful fruits ... |
Do you have information about Talking With Your Doctor | Summary : How well you and your doctor communicate with each other is one of the most important parts of getting good health care. Being prepared can help make the most of your visit. Here are some things you can bring: - Lists of your concerns, any allergies and all the medicines, herbs, or vitamins you take ... |
What is (are) Listeria Infections ? | Listeriosis is a foodborne illness caused by Listeria monocytogenes, bacteria found in soil and water. It can be in a variety of raw foods as well as in processed foods and foods made from unpasteurized milk. Listeria is unlike many other germs because it can grow even in the cold temperature of the refrigerator. S... |
What is (are) Aphasia ? | Aphasia is a disorder caused by damage to the parts of the brain that control language. It can make it hard for you to read, write, and say what you mean to say. It is most common in adults who have had a stroke. Brain tumors, infections, injuries, and dementia can also cause it. The type of problem you have and how ba... |
What is (are) pseudoxanthoma elasticum ? | Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized by the accumulation of deposits of calcium and other minerals (mineralization) in elastic fibers. Elastic fibers are a component of connective tissue, which provides strength and flexibility to structures throughout the body. In PXE, minera... |
How many people are affected by pseudoxanthoma elasticum ? | PXE affects approximately 1 in 50,000 people worldwide. For reasons that are unclear, this disorder is diagnosed twice as frequently in females as in males. |
What are the genetic changes related to pseudoxanthoma elasticum ? | Mutations in the ABCC6 gene cause PXE. This gene provides instructions for making a protein called MRP6 (also known as the ABCC6 protein). This protein is found primarily in cells of the liver and kidneys, with small amounts in other tissues, including the skin, stomach, blood vessels, and eyes. MRP6 is thought to tran... |
Is pseudoxanthoma elasticum inherited ? | PXE is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. In a few cases, an affected in... |
What are the treatments for pseudoxanthoma elasticum ? | These resources address the diagnosis or management of pseudoxanthoma elasticum: - Gene Review: Gene Review: Pseudoxanthoma Elasticum - Genetic Testing Registry: Pseudoxanthoma elasticum These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic... |
What is (are) L1 syndrome ? | L1 syndrome is an inherited disorder that primarily affects the nervous system. L1 syndrome involves a variety of features that were once thought to be distinct disorders, but are now considered to be part of the same syndrome. The most common characteristics of L1 syndrome are muscle stiffness (spasticity) of the lowe... |
How many people are affected by L1 syndrome ? | L1 syndrome is estimated to occur in 1 in 25,000 to 60,000 males. Females are rarely affected by this condition. |
What are the genetic changes related to L1 syndrome ? | L1 syndrome is caused by mutations in the L1CAM gene. The L1CAM gene provides instructions for producing the L1 protein, which is found throughout the nervous system on the surface of nerve cells (neurons). The L1 protein plays a role in the development and organization of neurons, the formation of the protective sheat... |
Is L1 syndrome inherited ? | This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t... |
What are the treatments for L1 syndrome ? | These resources address the diagnosis or management of L1 syndrome: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Gene Review: Gene Review: L1 Syndrome - Genetic Testing Registry: Corpus callosum, partial agenesis of, X-linked - Genetic Testing Registry: L1 Syndrome - Genetic Testing Registr... |
What is (are) alveolar capillary dysplasia with misalignment of pulmonary veins ? | Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capil... |
How many people are affected by alveolar capillary dysplasia with misalignment of pulmonary veins ? | ACD/MPV is a rare disorder; its incidence is unknown. Approximately 200 infants with this disorder have been identified worldwide. |
What are the genetic changes related to alveolar capillary dysplasia with misalignment of pulmonary veins ? | ACD/MPV can be caused by mutations in the FOXF1 gene. The protein produced from the FOXF1 gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. The FOXF1 protein is important in development of the lungs and their blood vessels... |
Is alveolar capillary dysplasia with misalignment of pulmonary veins inherited ? | ACD/MPV is usually not inherited, and most affected people have no history of the disorder in their family. The genetic changes associated with this condition usually occur during the formation of reproductive cells (eggs and sperm) or in early fetal development. When the condition is caused by a FOXF1 gene mutation or... |
What are the treatments for alveolar capillary dysplasia with misalignment of pulmonary veins ? | These resources address the diagnosis or management of ACD/MPV: - Genetic Testing Registry: Alveolar capillary dysplasia with misalignment of pulmonary veins - MedlinePlus Encyclopedia: Alveolar Abnormalities These resources from MedlinePlus offer information about the diagnosis and management of various health con... |
What is (are) Leigh syndrome ? | Leigh syndrome is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a couple of years, usually due to respiratory failure. A small number of i... |
How many people are affected by Leigh syndrome ? | Leigh syndrome affects at least 1 in 40,000 newborns. The condition is more common in certain populations. For example, the condition occurs in approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of Quebec, Canada. |
What are the genetic changes related to Leigh syndrome ? | Leigh syndrome can be caused by mutations in one of over 30 different genes. In humans, most genes are found in DNA in the cell's nucleus, called nuclear DNA. However, some genes are found in DNA in specialized structures in the cell called mitochondria. This type of DNA is known as mitochondrial DNA (mtDNA). While mos... |
Is Leigh syndrome inherited ? | Leigh syndrome can have different inheritance patterns. It is most commonly inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. This pattern of inheritance applies to genes contained in nuclear DNA. The parents of an individual with an autosomal recessive condit... |
What are the treatments for Leigh syndrome ? | These resources address the diagnosis or management of Leigh syndrome: - Gene Review: Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP - Gene Review: Gene Review: Nuclear Gene-Encoded Leigh Syndrome Overview - Genetic Testing Registry: Leigh Syndrome (mtDNA mutation) - Genetic Testing Registry: Lei... |
What is (are) chronic granulomatous disease ? | Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease... |
How many people are affected by chronic granulomatous disease ? | Chronic granulomatous disease is estimated to occur in 1 in 200,000 to 250,000 people worldwide. |
What are the genetic changes related to chronic granulomatous disease ? | Mutations in the CYBA, CYBB, NCF1, NCF2, or NCF4 gene can cause chronic granulomatous disease. There are five types of this condition that are distinguished by the gene that is involved. The proteins produced from the affected genes are parts (subunits) of an enzyme complex called NADPH oxidase, which plays an essentia... |
Is chronic granulomatous disease inherited ? | When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. The CYBB gene 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 sufficie... |
What are the treatments for chronic granulomatous disease ? | These resources address the diagnosis or management of chronic granulomatous disease: - American Academy of Allergy, Asthma, and Immunology - Gene Review: Gene Review: Chronic Granulomatous Disease - Genetic Testing Registry: Chronic granulomatous disease, X-linked - Genetic Testing Registry: Chronic granulomatous ... |
What is (are) pontocerebellar hypoplasia ? | Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area c... |
How many people are affected by pontocerebellar hypoplasia ? | The prevalence of pontocerebellar hypoplasia is unknown, although most forms of the disorder appear to be very rare. |
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