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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Angelman syndrome ? ### Doctor:
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Do you have information about Health Insurance
### Doctor:
Summary : Health insurance helps protect you from high medical care costs. It is a contract between you and your insurance company. You buy a plan or policy, and the company agrees to pay part of your expenses when you need medical care. Many people in the United States get a health insurance policy through their employers. In most cases, the employer helps pay for that insurance. Insurance through employers is often with a managed care plan. These plans contract with health care providers and medical facilities to provide care for members at reduced costs. You can also purchase health insurance on your own. People who meet certain requirements can qualify for government health insurance, such as Medicare and Medicaid. The Affordable Care Act expands health insurance coverage for many people in the U.S. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
what research (or clinical trials) is being done for Progressive Supranuclear Palsy ? ### Doctor:
Research is ongoing on Parkinson's and Alzheimer's diseases. Better understanding of those common, related disorders will go a long way toward solving the problem of PSP, just as studying PSP may help shed light on Parkinson's and Alzheimer's diseases. | [
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What causes Aquagenic pruritus ? ### Doctor:
What causes aquagenic pruritus? The exact cause of aquagenic pruritus is unknown, but increased mast cell degranulation (release of granules rich in histamine and other compounds into the body by mast cells, a special type of cell that plays a role in the immune system), increased circulating histamine, release of acetylcholine (a chemical in the body which sends signals from nerves to muscles and between nerves in the brain), and increased skin fibrinolytic activity (activity that controls clot size by promoting the breakdown of clots) have all been named as possible causes of the condition. In some cases, it appears to be a symptom of polycythemia vera. | [
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What is (are) Diffuse gastric cancer ? ### Doctor:
Diffuse gastric cancer or signet ring cell cancer is a type of cancer found most often in the glandular cells lining the stomach, but can also develop in the bowel, breast, pancreas, bladder, prostate or lung. The 2010 WHO (World Health Organization) classification recognizes four major histologic patterns of gastric cancers: tubular, papillary, mucinous and poorly cohesive (including signet ring cell carcinoma), plus uncommon histologic variants. The term "signet ring cell" is often used because the cells look like signet rings when viewed under a microscope. The signet cells are a type of epithelial cell. Epithelial tissue is skin tissue, covering and lining the body both inside and out. When diffuse gastric cancer is inherited it is called "hereditary diffuse gastric cancer." | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by Senior-Lken syndrome ? ### Doctor:
Senior-Lken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to Alpers-Huttenlocher syndrome ? ### Doctor:
Alpers-Huttenlocher syndrome is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol "reads" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called DNA replication. Most POLG gene mutations change single protein building blocks (amino acids) in the alpha subunit of pol . These changes result in a mutated pol that has a reduced ability to replicate DNA. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Hair Problems ? ### Doctor:
The average person has 5 million hairs. Hair grows all over your body except on your lips, palms, and the soles of your feet. It takes about a month for healthy hair to grow half an inch. Most hairs grow for up to six years and then fall out. New hairs grow in their place. Hair helps keep you warm. It also protects your eyes, ears and nose from small particles in the air. Common problem with the hair and scalp include hair loss, infections, and flaking. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
what research (or clinical trials) is being done for Generalized Gangliosidoses ? ### Doctor:
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the largest supporter of biomedical research in the world. Scientists are studying the mechanisms by which the lipids accumulating in these disorders cause harm to the body. NINDS-funded research on the gangliosidoses also includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain chemistry and disease progression, and expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans. | [
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How to prevent Peyronie's Disease ? ### Doctor:
Researchers do not know how to prevent Peyronies disease. | [
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What are the treatments for Holt-Oram syndrome ? ### Doctor:
How might Holt-Oram syndrome be treated? The treatment of Holt-Oram syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists such as pediatricians, surgeons, cardiologists, orthopedists, and/or other health care professionals. Depending upon the severity of any upper limb abnormalities, treatment may consist of corrective or reconstructive surgery, the use of artificial replacements for portions of the forearms and hands (limb prosthetics), and/or physical therapy to help individuals enhance their motor skills. In those with mild cardiac conduction abnormalities, treatment may not be required. In more severe cases, an artificial pacemaker may be used. | [
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What is (are) Wolff-Parkinson-White syndrome ? ### Doctor:
Wolff-Parkinson-White syndrome is a condition that disrupts the heart's normal rhythm (arrhythmia). People with Wolff-Parkinson-White syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This abnormality leads to an abnormally fast heartbeat (tachycardia) and other arrhythmias. In most cases, the cause of Wolff-Parkinson-White syndrome is unknown. A small percentage of cases are caused by mutations in the PRKAG2 gene. These cases appear to be inherited in an autosomal dominant manner. | [
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What is (are) Hashimoto's Disease ? ### Doctor:
The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on either side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce and store hormones and release them into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells. The thyroid makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is the active hormone and is made from T4. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels. | [
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What is (are) Chiari malformation type 1 ? ### Doctor:
Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem. Normally, only the spinal cord passes through this opening. This malformation is the most common type of Chiari malformation and may not cause any symptoms. Depending on the symptoms present and severity, some individuals may not require treatment while others may require pain medications or surgery. | [
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What is (are) activated PI3K-delta syndrome ? ### Doctor:
Activated PI3K-delta syndrome is a disorder that impairs the immune system. Individuals with this condition often have low numbers of white blood cells (lymphopenia), particularly B cells and T cells. Normally, these cells recognize and attack foreign invaders, such as viruses and bacteria, to prevent infection. Beginning in childhood, people with activated PI3K-delta syndrome develop recurrent infections, particularly in the lungs, sinuses, and ears. Over time, recurrent respiratory tract infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. People with activated PI3K-delta syndrome may also have chronic active viral infections, commonly Epstein-Barr virus or cytomegalovirus infections. | [
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What is (are) nonsyndromic aplasia cutis congenita ? ### Doctor:
Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped. Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area. When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. | [
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How many people are affected by Bjrnstad syndrome ? ### Doctor:
Bjrnstad syndrome is a rare condition, although its prevalence is unknown. It has been found in populations worldwide. | [
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What are the genetic changes related to Hashimoto thyroiditis ? ### Doctor:
Hashimoto thyroiditis is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Hashimoto thyroiditis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with Hashimoto thyroiditis, white blood cells called lymphocytes accumulate abnormally in the thyroid, which can damage it. The lymphocytes make immune system proteins called antibodies that attack and destroy thyroid cells. When too many thyroid cells become damaged or die, the thyroid can no longer make enough hormones to regulate body functions. This shortage of thyroid hormones underlies the signs and symptoms of Hashimoto thyroiditis. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What causes 47, XYY syndrome ? ### Doctor:
What causes 47, XYY syndrome? 47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. This is typically due to a random event during the formation of a sperm cell in the father, usually before conception (fertilization of the egg). In this case, the father's two Y chromosomes do not separate when sperm cells are being made. If two Y chromosomes are present in a sperm that fertilizes an egg (with an X chromosome), the resulting embryo will be a male with an extra Y chromosome. It is also possible that a similar random event could occur very early in an embryo's development. It is not fully understood why an extra copy of the Y chromosome leads to an increased risk for the features associated with 47, XYY syndrome in some males. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Meckel syndrome type 3 ? ### Doctor:
What are the signs and symptoms of Meckel syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cleft palate 5% Dandy-Walker malformation 5% Hydrocephalus 5% Autosomal recessive inheritance - Bile duct proliferation - Encephalocele - Hepatic fibrosis - Multicystic kidney dysplasia - Polydactyly - Postaxial hand polydactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What are the treatments for Joubert Syndrome ? ### Doctor:
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. Screening for progressive eye, liver, and kidney complications associated with Joubert-related disorders should be performed on a regular basis. | [
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Is short-chain acyl-CoA dehydrogenase deficiency inherited ? ### Doctor:
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. | [
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What is (are) Mycetoma ? ### Doctor:
Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. Eventually, affected people experience massive swelling and hardening of the affected area; skin rupture; and formation of sinus tracts (holes) that discharge pus and grains filled with organisms. Some affected people have no discomfort while others report itching and/or pain. Mycetoma is rare in the United States, but is commonly diagnosed in Africa, Mexico and India. In these countries, it occurs most frequently in farmers, shepherds, and people living in rural areas. Frequent exposure to penetrating wounds by thorns or splinters is a risk factor. | [
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What are the treatments for Acquired pure red cell aplasia ? ### Doctor:
How might acquired pure red cell aplasia be treated? The main goals of treatment for pure red cell aplasia (PRCA) are to restore the production of red blood cells, maintain adequate hemoglobin levels, and treat underlying disorders that may be causing the condition. The initial treatment plan typically includes blood transfusions for individuals who are severely anemic and have cardiorespiratory failure. PRCA due to medication or infections is usually reversible within a few months. Therefore, medications that may be causing the condition should be discontinued, and infections that may cause the condition should be treated. Underlying conditions that may cause PRCA such as a thymoma, hematological cancers, solid tumors, and systemic lupus erythematosus (SLE) should be treated as necessary as well. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Leydig cell hypoplasia ? ### Doctor:
Leydig cell hypoplasia is a condition that affects male sexual development. It is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty. In Leydig cell hypoplasia, affected individuals with a typical male chromosomal pattern (46,XY) may have a range of genital abnormalities. Affected males may have a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Because of these abnormalities, the external genitalia may not look clearly male or clearly female (ambiguous genitalia). In more severe cases of Leydig cell hypoplasia, people with a typical male chromosomal pattern (46,XY) have female external genitalia. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ? ### Doctor:
The incidence of LCHAD deficiency is unknown. One estimate, based on a Finnish population, indicates that 1 in 62,000 pregnancies is affected by this disorder. In the United States, the incidence is probably much lower. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Non-Small Cell Lung Cancer ? ### Doctor:
Key Points
- There are different types of treatment for patients with non-small cell lung cancer. - Nine types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Targeted therapy - Laser therapy - Photodynamic therapy (PDT) - Cryosurgery - Electrocautery - Watchful waiting - New types of treatment are being tested in clinical trials. - Chemoprevention - Radiosensitizers - New combinations - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. There are different types of treatment for patients with non-small cell lung cancer. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by spastic paraplegia type 15 ? ### Doctor:
Spastic paraplegia type 15 is a rare condition, although its exact prevalence is unknown. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Moebius syndrome ? ### Doctor:
What are the signs and symptoms of Moebius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Moebius 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. | [
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How many people are affected by adenosine monophosphate deaminase deficiency ? ### Doctor:
AMP deaminase deficiency is one of the most common inherited muscle disorders in white populations, affecting 1 in 50 to 100 people. The prevalence is lower in African Americans, affecting an estimated 1 in 40,000 people, and the condition is even less common in the Japanese population. | [
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How many people are affected by spina bifida ? ### Doctor:
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How to diagnose Abetalipoproteinemia ? ### Doctor:
Is genetic testing available for abetalipoproteinemia? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Prenatal testing may also be available for pregnancies at increased risk if the mutations in the family have been identified. | [
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What causes Down syndrome ? ### Doctor:
What causes Down syndrome? There are 3 possible genetic causes of Down syndrome: Trisomy 21. Most often, Down syndrome is caused by an extra chromosome 21 in all cells of the affected person. In these cases, the chromosome 21 pair fails to separate during the formation of an egg (or sperm); this is called "nondisjunction." When the egg with 2 copies of chromosome 21 unites with a normal sperm with one copy of chromosome 21 to form an embryo, the resulting embryo has 3 copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby's body, causing the features of Down syndrome. The cause of nondisjunction is unknown, but research has shown that it happens more often as women age. Nondisjunction is not known to be caused by anything in the environment or anything that parents do (or don't do) before or during pregnancy. | [
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What are the symptoms of Methylmalonic acidemia with homocystinuria, type cblJ ? ### Doctor:
What are the signs and symptoms of Methylmalonic acidemia with homocystinuria, type cblJ? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria, type cblJ. 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) Atria septal defect 5% Cerebral atrophy 5% Coarctation of aorta 5% Cryptorchidism 5% Decreased methionine synthase activity 5% Decreased methylcobalamin 5% Gastroesophageal reflux 5% Hypertelorism 5% Pulmonary hypertension 5% Wide intermamillary distance 5% Abnormal posturing - Anemia - Autosomal recessive inheritance - Congenital onset - Decreased adenosylcobalamin - Feeding difficulties - Growth delay - Homocystinuria - Hyperhomocystinemia - Inguinal hernia - Lethargy - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Neutropenia - Tachypnea - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What is (are) ophthalmo-acromelic syndrome ? ### Doctor:
Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually both eyes are similarly affected in this condition, but if only one eye is small or missing, the other eye may have a defect such as a gap or split in its structures (coloboma). The most common hand and foot malformation seen in ophthalmo-acromelic syndrome is missing fingers or toes (oligodactyly). Other frequent malformations include fingers or toes that are fused together (syndactyly) or extra fingers or toes (polydactyly). These skeletal malformations are often described as acromelic, meaning that they occur in the bones that are away from the center of the body. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Meige disease ? ### Doctor:
These resources address the diagnosis or management of Meige disease: - Genetic Testing Registry: Lymphedema praecox - Johns Hopkins Medicine: Lymphedema Management 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 | [
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What are the genetic changes related to Andersen-Tawil syndrome ? ### Doctor:
Mutations in the KCNJ2 gene cause Andersen-Tawil syndrome. The KCNJ2 gene provides instructions for making a protein that forms a channel across cell membranes. This channel transports positively charged atoms (ions) of potassium into muscle cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of muscles used for movement (skeletal muscles) and cardiac muscle. Mutations in the KCNJ2 gene alter the usual structure and function of potassium channels or prevent the channels from being inserted correctly into the cell membrane. Many mutations prevent a molecule called PIP2 from binding to the channels and effectively regulating their activity. These changes disrupt the flow of potassium ions in skeletal and cardiac muscle, leading to the periodic paralysis and irregular heart rhythm characteristic of Andersen-Tawil syndrome. | [
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Is Proteus syndrome inherited ? ### Doctor:
Because Proteus syndrome is caused by AKT1 gene mutations that occur during early development, the disorder is not inherited and does not run in families. | [
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What is the outlook for Olivopontocerebellar Atrophy ? ### Doctor:
There is no cure for OPCA. The disorder is slowly progressive with death usually occurring approximately 20 years after onset. | [
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What is (are) Tumor necrosis factor receptor-associated periodic syndrome ? ### Doctor:
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited condition characterized by recurrent episodes of fever. Episodes can begin at any age but most often begin in early childhood. Fevers typically last about 3 weeks but can last from a few days to a few months. The amount of time between episodes may vary from weeks to years. Episodes usually occur spontaneously, but are sometimes brought on by a variety of triggers (such as injury, infection, or stress). Symptoms during fever episodes may include abdominal, muscle or joint pains; skin rashes (usually on the limbs); puffiness around the eyes; and inflammation in various areas of the body. Some people develop amyloidosis. TRAPS is caused by mutations in the TNFRSF1A gene and is inherited in an autosomal dominant manner. | [
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What are the genetic changes related to spinocerebellar ataxia type 36 ? ### Doctor:
SCA36 is caused by mutations in the NOP56 gene. The NOP56 gene provides instructions for making a protein called nucleolar protein 56, which is primarily found in the nucleus of nerve cells (neurons), particularly those in the cerebellum. This protein is one part (subunit) of the ribonucleoprotein complex, which is composed of proteins and molecules of RNA, DNA's chemical cousin. The ribonucleoprotein complex is needed to make cellular structures called ribosomes, which process the cell's genetic instructions to create proteins. The NOP56 gene mutations that cause SCA36 involve a string of six DNA building blocks (nucleotides) located in an area of the gene known as intron 1. This string of six nucleotides (known as a hexanucleotide) is represented by the letters GGCCTG and normally appears multiple times in a row. | [
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What are the treatments for Senior-Lken syndrome ? ### Doctor:
These resources address the diagnosis or management of Senior-Lken syndrome: - Genetic Testing Registry: Senior-Loken syndrome 1 - Genetic Testing Registry: Senior-Loken syndrome 3 - Genetic Testing Registry: Senior-Loken syndrome 4 - Genetic Testing Registry: Senior-Loken syndrome 5 - Genetic Testing Registry: Senior-Loken syndrome 6 - Genetic Testing Registry: Senior-Loken syndrome 7 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 | [
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What causes X-linked dominant scapuloperoneal myopathy ? ### Doctor:
What causes X-linked dominant scapuloperoneal myopathy? X-linked dominant scapuloperoneal myopathy is caused by mutations in the FHL1 gene. The FHL1 gene is located on chromosome Xq26. This gene may be involved in muscle development or hypertrophy. | [
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How many people are affected by familial Mediterranean fever ? ### Doctor:
Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It is less common in other populations. | [
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How many people are affected by aminoacylase 1 deficiency ? ### Doctor:
The prevalence of aminoacylase 1 deficiency is unknown. | [
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What causes Prescription and Illicit Drug Abuse ? ### Doctor:
Medications affect older people differently than younger people because aging changes how the body and brain handle these substances. As we age, our bodies change and cannot break down and get rid of substances as easily as before. This means that even a small amount of a medicine or a drug can have a strong effect. If you take medications the wrong way or abuse illicit drugs, this can have a serious effect on your health and make existing health problems worse. As people age, they may also become more sensitive to alcohols effects. For more information on the dangers of mixing alcohol and medicines, see Alcohol Use and Older Adults." | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Febrile Ulceronecrotic Mucha-Habermann disease ? ### Doctor:
How is febrile ulceronecrotic Mucha-Habermann disease (FUMHD) treated? It is important that FUMHD is diagnosed and treated as soon as possible. While a number of treatments have been tried, it is hard to asses the benefit of the therapies because there are so few cases of FUMHD and among reported cases the treatment approach may vary. The case reports describe treatment with systemic steroids, methotrexate, antibiotics, dapsone, cyclosporine, psoralen and ultraviolet A (PUVA), ultraviolet B (UVB), unspecified ultraviolet receptor, acyclovir, immunoglobulins, and 4,4-diaminodiphenylsulphone (DDS). Again the efficacy of these therapies are not known. Acyclovir was prescribed in cases where varicella was initially suspected. None of these cases turned out to be associated with herpes simplex or varicella-zoster virus infection. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Pol III-related leukodystrophy ? ### Doctor:
Pol III-related leukodystrophy is a disorder that affects the nervous system and other parts of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers and promotes the rapid transmission of nerve impulses. Pol III-related leukodystrophy is a hypomyelinating disease, which means that the nervous system of affected individuals has a reduced ability to form myelin. Hypomyelination underlies most of the neurological problems associated with Pol III-related leukodystrophy. A small number of people with this disorder also have a loss of nerve cells in a part of the brain involved in coordinating movements (cerebellar atrophy) and underdevelopment (hypoplasia) of tissue that connects the left and right halves of the brain (the corpus callosum). | [
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What is (are) Dry Mouth ? ### Doctor:
Dry mouth is the feeling that there is not enough saliva in your mouth. Everyone has a dry mouth once in a while - if they are nervous, upset or under stress. But if you have a dry mouth all or most of the time, it can be uncomfortable and can lead to serious health problems. Symptoms of dry mouth include - A sticky, dry feeling in the mouth - Trouble chewing, swallowing, tasting, or speaking - A burning feeling in the mouth - A dry feeling in the throat - Cracked lips - A dry, rough tongue - Mouth sores - An infection in the mouth Dry mouth is not a normal part of aging. Causes include some medicines, radiation therapy, chemotherapy, and nerve damage. Salivary gland diseases, Sjogren's syndrome, HIV/AIDS, and diabetes can also cause dry mouth. Treatment depends on the cause. | [
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What are the treatments for boomerang dysplasia ? ### Doctor:
These resources address the diagnosis or management of boomerang dysplasia: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Boomerang dysplasia 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 | [
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How to diagnose Breast Cancer ? ### Doctor:
Tests that examine the breasts are used to detect (find) and diagnose breast cancer. Check with your doctor if you notice any changes in your breasts. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Clinical breast exam (CBE): An exam of the breast by a doctor or other health professional. The doctor will carefully feel the breasts and under the arms for lumps or anything else that seems unusual. - Mammogram: An x-ray of the breast. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. | [
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What are the treatments for spinocerebellar ataxia type 6 ? ### Doctor:
These resources address the diagnosis or management of SCA6: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 6 - Genetic Testing Registry: Spinocerebellar ataxia 6 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 | [
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What are the symptoms of Renal tubular acidosis, distal, autosomal dominant ? ### Doctor:
What are the signs and symptoms of Renal tubular acidosis, distal, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, autosomal dominant. 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 - Hypocalcemia - Nephrocalcinosis - Osteomalacia - Pathologic fracture - Periodic hypokalemic paresis - Periodic paralysis - Postnatal growth retardation - Renal tubular acidosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by Cowden syndrome ? ### Doctor:
Although the exact prevalence of Cowden syndrome is unknown, researchers estimate that it affects about 1 in 200,000 people. | [
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What are the symptoms of Donnai-Barrow syndrome ? ### Doctor:
What are the signs and symptoms of Donnai-Barrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Donnai-Barrow 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) Low-molecular-weight proteinuria 100% Non-acidotic proximal tubulopathy 100% Abnormality of the fontanelles or cranial sutures 90% Aplasia/Hypoplasia of the corpus callosum 90% Broad nasal tip 90% Cognitive impairment 90% Depressed nasal bridge 90% High anterior hairline 90% Hypertelorism 90% Infra-orbital crease 90% Low-set, posteriorly rotated ears 90% Myopia 90% Proptosis 90% Proteinuria 90% Sensorineural hearing impairment 90% Short nose 90% Low-set ears 75% Broad forehead 50% Congenital diaphragmatic hernia 50% Diaphragmatic eventration 50% Macrocephaly 50% Omphalocele 50% Retinal detachment 50% Umbilical hernia 50% Visual impairment 50% Progressive visual loss 33% Retinal dystrophy 33% Abnormality of female internal genitalia 7.5% Chorioretinal coloboma 7.5% Hypoplasia of the iris 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Seizures 7.5% Ventricular septal defect 7.5% Bicornuate uterus 5% Cataract 1% Aplasia/Hypoplasia of the corpus callosum 11/11 Hypertelorism 12/12 Sensorineural hearing impairment 5/5 Severe Myopia 5/5 Short nose 9/11 Wide anterior fontanel 9/12 Congenital diaphragmatic hernia 9/13 Posteriorly rotated ears 7/11 Iris coloboma 3/6 Omphalocele 6/12 Intestinal malrotation 3/13 Autosomal recessive inheritance - Hypoplasia of midface - Malar flattening - Partial agenesis of the corpus callosum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What are the symptoms of Insulin-like growth factor I deficiency ? ### Doctor:
What are the signs and symptoms of Insulin-like growth factor I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulin-like growth factor I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Clinodactyly - Congenital onset - Decreased body weight - Delayed skeletal maturation - Hyperactivity - Intellectual disability - Intrauterine growth retardation - Microcephaly - Motor delay - Osteopenia - Ptosis - Radial deviation of finger - Sensorineural hearing impairment - Short attention span - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What are the treatments for Progressive Multifocal Leukoencephalopathy ? ### Doctor:
Currently, the best available therapy is reversal of the immune-deficient state, since there are no effective drugs that block virus infection without toxicity. Reversal may be achieved by using plasma exchange to accelerate the removal of the therapeutic agents that put patients at risk for PML. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals. Several new drugs that laboratory tests found effective against infection are being used in PML patients with special permission of the U.S. Food and Drug Administration. Hexadecyloxypropyl-Cidofovir (CMX001) is currently being studied as a treatment option for JVC because of its ability to suppress JVC by inhibiting viral DNA replication. | [
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What is the outlook for Adult Hodgkin Lymphoma ? ### Doctor:
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The patient's signs and symptoms. - The stage of the cancer. - The type of Hodgkin lymphoma. - Blood test results. - The patient's age, gender, and general health. - Whether the cancer is recurrent or progressive. For Hodgkin lymphoma during pregnancy, treatment options also depend on: - The wishes of the patient. - The age of the fetus. Adult Hodgkin lymphoma can usually be cured if found and treated early. | [
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What is (are) Restless legs syndrome ? ### Doctor:
Restless legs syndrome is a neurological condition that causes an irresistible urge to move the legs. The movement is triggered by strange or uncomfortable feelings, which occur mostly while the affected person is sitting or lying down and are worse at night. Movement (i.e. kicking, stretching, rubbing, or pacing) makes the discomfort go away, at least temporarily. Many people with restless legs syndrome also experience uncontrollable, repetitive leg movements that occur while they are sleeping or while relaxed or drowsy. Researchers have described early-onset and late-onset forms of restless legs syndrome. The early-onset form begins before age 45 and progresses slowly. The late-onset form begins after age 45, and its signs and symptoms tend to worsen more rapidly. | [
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What are the symptoms of Porencephaly cerebellar hypoplasia internal malformations ? ### Doctor:
What are the signs and symptoms of Porencephaly cerebellar hypoplasia internal malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Porencephaly cerebellar hypoplasia internal malformations. 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) Agenesis of cerebellar vermis - Atria septal defect - Autosomal recessive inheritance - Cerebellar hypoplasia - Porencephaly - Situs inversus totalis - Tetralogy of Fallot - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What is (are) Cushing's Syndrome ? ### Doctor:
Cushing's syndrome, also called hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body's tissues to excess levels of cortisol - a hormone naturally produced by the adrenal gland. Exposure to too much cortisol can occur from long-term use of synthetic glucocorticoid hormones to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) that secrete increased amounts of ACTH (adrenocorticotropic hormone, a substance that controls the release of cortisol) can also spur overproduction of cortisol. Tumors of the adrenal gland and ectopic ACTH syndrome (a condition in which ACTH is produced by various types of potentially malignant tumors that occur in different parts of the body) can cause similar problems with cortisol balance. | [
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What is (are) Fragile X Syndrome ? ### Doctor:
Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. This causes the symptoms of Fragile X. People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include - Intelligence problems, ranging from learning disabilities to severe intellectual disabilities - Social and emotional problems, such as aggression in boys or shyness in girls - Speech and language problems, especially in boys A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? ### Doctor:
What are the signs and symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. 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. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Breast Cancer ? ### Doctor:
Hormonal therapy keeps cancer cells from getting the hormones they need to grow. This treatment may include the use of drugs that change the way hormones work. Sometimes it includes surgery to remove the ovaries, which make female hormones. Like chemotherapy, hormonal therapy can affect cancer cells throughout the body. Often, women with early-stage breast cancer and those with metastatic breast cancer -- meaning cancer that has spread to other parts of the body -- receive hormone therapy in the form of tamoxifen. Hormone therapy with tamoxifen or estrogens can act on cells all over the body. However, it may increase the chance of developing endometrial cancer. If you take tamoxifen, you should have a pelvic examination every year to look for any signs of cancer. | [
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What is (are) Itching ? ### Doctor:
Itching is skin tingling or irritation that makes you want to scratch the itchy area. It's a symptom of many health conditions. Common causes are - Allergic reactions - Eczema - Dry skin - Insect bites and stings - Irritating chemicals - Parasites such as pinworms, scabies, head and body lice - Pregnancy - Rashes - Reactions to medicines To soothe itchy skin, you can try cold compresses, lotions and lukewarm baths. Avoid scratching, wearing irritating fabrics and high heat and humidity. Most itching is not serious. However, if you itch all over, have hives that keep coming back or have itching without an apparent cause, you might require medical attention. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Tuberculosis (TB) ? ### Doctor:
The Division of Tuberculosis Elimination (DTBE) Laboratory Branch (LB) provides services for the following tests on mycobacterial cultures. Any local health department, licensed physician's office, licensed laboratory or licensed health care facility may submit cultures for testing but they must be routed through either their state health department or other authorized facility. Genotyping
State or local TB control programs
A genotyping laboratory, in Michigan is under contract with CDC to provide genotyping services to TB programs in the United States. Three genotyping methods to identify TB strains:
- Spoligotyping
- Mycobacterial interspersed repetitive unit (MIRU) analysis
- IS6110-based restriction fragment length polymorphism (RFLP) analysis
For more information, view the Guide to the Application of Genotyping to Tuberculosis Prevention and Control. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is Tubular aggregate myopathy inherited ? ### Doctor:
Is tubular aggregate myopathy genetic? It is evident from family history studies that the condition can be passed through families in either an autosomal dominant or autosomal recessive fashion. Some cases appear to be due to dominant mutations in the STIM1 gene. Sporadic cases of tubular aggregate myopathy have also been reported. Sporadic is used to denote either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. | [
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What are the symptoms of Tetralogy of fallot and glaucoma ? ### Doctor:
What are the signs and symptoms of Tetralogy of fallot and glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of fallot and glaucoma. 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 - Congenital glaucoma - Tetralogy of Fallot - 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. | [
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What is (are) Glycogen storage disease type 7 ? ### Doctor:
Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. Symptoms typically resolve with rest. GSD7 is most commonly diagnosed during childhood; however, some affected people may rarely develop symptoms during infancy or later in adulthood. Those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy and breathing difficulties that often lead to a shortened lifespan (less than 1 year). | [
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What is (are) primary ciliary dyskinesia ? ### Doctor:
Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward. In the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. | [
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Is xeroderma pigmentosum inherited ? ### Doctor:
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. | [
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What are the symptoms of Obesity Hypoventilation Syndrome ? ### Doctor:
Many of the signs and symptoms of obesity hypoventilation syndrome (OHS) are the same as those of obstructive sleep apnea. This is because many people who have OHS also have obstructive sleep apnea. One of the most common signs of obstructive sleep apnea is loud and chronic (ongoing) snoring. Pauses may occur in the snoring. Choking or gasping may follow the pauses. Other symptoms include:
Daytime sleepiness
Morning headaches
Memory, learning, or concentration problems
Feeling irritable or depressed, or having mood swings or personality changes
You also may have rapid, shallow breathing. During a physical exam, your doctor might hear abnormal heart sounds while listening to your heart with a stethoscope. | [
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What are the treatments for Colorectal Cancer ? ### Doctor:
There are several treatment options for colorectal cancer, although most treatments begin with surgical removal of either the cancerous polyp or section of the colon. The choice of treatment depends on your age and general health, the stage of cancer, whether or not it has spread beyond the colon, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. Studies show that early treatment leads to better outcomes. Working With a Team of Specialists A team of specialists often treats people with cancer. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. | [
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What is (are) Psoriasis ? ### Doctor:
Psoriasis (sow RYE uh sis) is a chronic skin disease. Chronic means that it lasts a long time, often a lifetime. Psoriasis affects more than 5 million adults in the United States. It appears about equally in males and females. Psoriasis occurs when the skin cells grow too quickly. The body does not shed these excess cells and they build up on the surface of the skin, forming thick, scaly patches. Types of Psoriasis Psoriasis occurs in five different forms that affect both men and women. Most people have only one type of psoriasis at a time. Sometimes, one type of psoriasis will disappear and another will appear. Here is a brief overview of the different forms of psoriasis. - Is the most common form - appears as raised red patches covered in silvery white scales - usually shows up on the scalp, knees, elbows and lower back - patches may itch or be painful and can also crack and bleed. | [
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What is (are) Wilson disease ? ### Doctor:
Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems. Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling. | [
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How to diagnose Non-Small Cell Lung Cancer ? ### Doctor:
Tests that examine the lungs are used to detect (find), diagnose, and stage non-small cell lung cancer. Tests and procedures to detect, diagnose, and stage non-small cell lung cancer are often done at the same time. Some of the following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits, including smoking, and past jobs, illnesses, and treatments will also be taken. - Laboratory tests : Medical procedures that test samples of tissue, blood, urine, or other substances in the body. These tests help to diagnose disease, plan and check treatment, or monitor the disease over time. | [
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How to prevent Peripheral Arterial Disease (P.A.D.) ? ### Doctor:
What Causes P.A.D.? The most common cause of P.A.D. is atherosclerosis, a buildup of plaque in the arteries. The exact cause of atherosclerosis isn't known. Certain people are at higher risk for developing atherosclerosis. The disease may start if certain factors damage the inner layers of the arteries. These factors include - smoking - high amounts of certain fats and cholesterol in the blood - high blood pressure - high amounts of sugar in the blood due to insulin resistance or diabetes. smoking high amounts of certain fats and cholesterol in the blood high blood pressure high amounts of sugar in the blood due to insulin resistance or diabetes. The major risk factors for P.A.D. are smoking, older age, and having certain diseases or conditions. The Effects of Smoking Smoking is the main risk factor for P.A.D. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Elder Abuse ? ### Doctor:
Many older people are victims of elder abuse. It is the mistreatment of an older person, usually by a caregiver. It can happen within the family. It can also happen in assisted living facilities or nursing homes. The mistreatment may be - Physical, sexual, or emotional abuse - Neglect or abandonment - Financial abuse - stealing of money or belongings Possible signs of elder abuse include unexplained bruises, burns, and injuries. There may also be bed sores and poor hygiene. The person may become withdrawn, agitated, and depressed. There may be a sudden change in the person's financial situation. Elder abuse will not stop on its own. Someone else needs to step in and help. If you think that an older person is in urgent danger, call 9-1-1. Otherwise, contact adult protective services. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by histidinemia ? ### Doctor:
Estimates of the incidence of histidinemia vary widely, ranging between 1 in 8,600 to 1 in 90,000 people. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Isotretinoin embryopathy like syndrome ? ### Doctor:
What are the signs and symptoms of Isotretinoin embryopathy like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Isotretinoin embryopathy like 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) Atresia of the external auditory canal 90% Low-set, posteriorly rotated ears 90% Ventricular septal defect 90% Abnormality of the aorta 50% Abnormality of the nose 50% Anterior creases of earlobe 50% Atria septal defect 50% High forehead 50% Hypertelorism 50% Oral cleft 50% Overfolded helix 50% Patent ductus arteriosus 50% Preauricular skin tag 50% Prominent occiput 50% Short neck 50% Abnormality of the posterior cranial fossa - Anotia - Autosomal recessive inheritance - Cleft palate - Conotruncal defect - Hydrocephalus - Microtia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What are the genetic changes related to protein S deficiency ? ### Doctor:
Protein S deficiency is caused by mutations in the PROS1 gene. This gene provides instructions for making protein S, which is found in the bloodstream and is important for controlling blood clotting. Protein S helps block the activity of (inactivate) certain proteins that promote the formation of blood clots. Most mutations that cause protein S deficiency change single protein building blocks (amino acids) in protein S, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional protein S to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. Protein S deficiency can be divided into types I, II and III based on how mutations in the PROS1 gene affect protein S. | [
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Who is at risk for Sudden Cardiac Arrest? ? ### Doctor:
The risk of sudden cardiac arrest (SCA) increases:
With age
If you are a man. Men are more likely than women to have SCA. Some studies show that blacksparticularly those with underlying conditions such as diabetes, high blood pressure, heart failure, and chronic kidney disease or certain cardiac findings on tests such as an electrocardiogramhave a higher risk forSCA. Major Risk Factor
The major risk factor for SCA is coronary heart disease. Most people who have SCA have some degree of coronary heart disease; however, many people may not know that they have coronary heart disease until SCA occurs. Usually their coronary heart disease is silentthat is, it has no signs or symptoms. Because of this, doctors and nurses have not detected it. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Dentinogenesis imperfecta type 2 ? ### Doctor:
Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imperfecta have no normal teeth. Sensorineural hearing loss has also been found in some affected people. Dentinogenesis imperfecta type 2 is caused by changes (mutations) in the DSPP gene and is inherited in an autosomal dominant manner. Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants. | [
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what research (or clinical trials) is being done for Childhood Non-Hodgkin Lymphoma ? ### Doctor:
New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. | [
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What are the treatments for Myopathy ? ### Doctor:
Treatments for the myopathies depend on the disease or condition and specific causes. Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders. Treatment for other disorders may include drug therapy, such as immunosuppressives, physical therapy, bracing to support weakened muscles, and surgery. | [
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How to diagnose Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? ### Doctor:
How is HEM diagnosed? Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM. | [
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What are the symptoms of Book syndrome ? ### Doctor:
What are the signs and symptoms of Book syndrome? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. The signs and symptoms reported in the Swedish family included premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and early whitening of the hair. Early whitening of the hair was the most constant symptom, being found in every affected family member. The age of onset of this symptom ranged from age 6 to age 23. In some cases, there was whitening of hair on other parts of the body such as the armipits, genital hair, and eyebrows. Two-thirds of the affected people had an abnormality of the sweat glands. | [
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What causes Juvenile primary lateral sclerosis ? ### Doctor:
What causes juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is unstable and decays rapidly, or it is disabled and cannot function properly. It is unclear how the loss of functional alsin protein damages motor neurons and causes juvenile primary lateral sclerosis. | [
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What is (are) What I need to know about Gestational Diabetes ? ### Doctor:
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What is (are) Balance Problems ? ### Doctor:
Have you ever felt dizzy, lightheaded, or as if the room were spinning around you? These can be very troublesome sensations. If the feeling happens often, it could be a sign of a balance problem. Balance problems are among the most common reasons that older adults seek help from a doctor. In 2008, an estimated 14.8 percent of American adults (33.4 million) had a balance or dizziness problem during the past year. Why Good Balance is Important Having good balance means being able to control and maintain your body's position, whether you are moving or remaining still. An intact sense of balance helps you - walk without staggering - get up from a chair without falling - climb stairs without tripping - bend over without falling. walk without staggering get up from a chair without falling climb stairs without tripping bend over without falling. | [
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What causes Primary Familial Brain Calcification ? ### Doctor:
What causes primary familial brain calcification (PFBC)? PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found. | [
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What are the treatments for Foodborne Illnesses ? ### Doctor:
The only treatment needed for most foodborne illnesses is replacing lost fluids and electrolytes to prevent dehydration. Over-the-counter medications such as loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol and Kaopectate) may help stop diarrhea in adults. However, people with bloody diarrheaa sign of bacterial or parasitic infectionshould not use these medications. If diarrhea is caused by bacteria or parasites, over-the-counter medications may prolong the problem. Medications to treat diarrhea in adults can be dangerous for infants and children and should only be given with a health care providers guidance. If the specific cause of the foodborne illness is diagnosed, a health care provider may prescribe medications, such as antibiotics, to treat the illness. | [
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Who is at risk for Sickle Cell Disease? ? ### Doctor:
In the United States, most people with sickle cell disease (SCD) are of African ancestry or identify themselves as black. About 1 in 13 African American babies is born with sickle cell trait. About 1 in every 365 black children is born with sickle cell disease. There are also many people with this disease who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds. Approximately 100,000 Americans have SCD. | [
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What is (are) Parasites - Trichinellosis (also known as Trichinosis) ? ### Doctor:
Trichinellosis, also called trichinosis, is caused by eating raw or undercooked meat of animals infected with the larvae of a species of worm called Trichinella. Infection occurs commonly in certain wild carnivorous (meat-eating) animals such as bear or cougar, or omnivorous (meat and plant-eating) animals such as domestic pigs or wild boar. | [
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How many people are affected by spinal muscular atrophy with progressive myoclonic epilepsy ? ### Doctor:
SMA-PME is a rare disorder; approximately a dozen affected families have been described in the scientific literature. | [
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What is (are) Pseudopseudohypoparathyroidism ? ### Doctor:
Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain. Some people with PPHP (10%) also have learning disability. PHPP is caused by mutations in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting). PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a). Signs and symptoms are similar, however people with PPHP do not show resistance to parathyroid hormone while people with PHP-1a do. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for dopamine transporter deficiency syndrome ? ### Doctor:
These resources address the diagnosis or management of dopamine transporter deficiency syndrome: - Gene Review: Gene Review: Parkinson Disease Overview - Genetic Testing Registry: Infantile Parkinsonism-dystonia 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 | [
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Is Klinefelter syndrome inherited ? ### Doctor:
Is Klinefelter syndrome inherited? Klinefelter syndrome is not inherited, but usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain one or more extra copies of the X chromosome as a result of nondisjunction. If one of these reproductive cells contributes to the genetic makeup of a child, the child will have one or several extra X chromosomes in each of the body's cells. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is Familial hypercholesterolemia inherited ? ### Doctor:
How is familial hypercholesterolemia inherited? Familial hypercholesterolemia (FH) is usually inherited in an autosomal dominant manner (in which case it is referred to as heterozygous FH). Individuals inherit two copies of each gene (one from each parent). In an autosomal dominant condition, having only one abnormal (mutated) copy of the gene is sufficient to cause the condition. In most cases the mutated gene is inherited from an affected parent, but it is possible for the mutation to occur for the first time in the affected individual. An individual with an autosomal dominant condition has a 50% (1 in 2) chance to pass the mutation on to each of his/her children and a 50% chance to not pass on the mutation. More rarely, familial FH may be inherited in an autosomal recessive manner. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to X-linked lymphoproliferative disease ? ### Doctor:
Mutations in the SH2D1A and XIAP genes cause XLP. SH2D1A gene mutations cause XLP1, and XIAP gene mutations cause XLP2. The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule (SLAM) associated protein (SAP). This protein is involved in the functioning of lymphocytes that destroy other cells (cytotoxic lymphocytes) and is necessary for the development of specialized T cells called natural killer T cells. The SAP protein also helps control immune reactions by triggering self-destruction (apoptosis) of cytotoxic lymphocytes when they are no longer needed. Some SH2D1A gene mutations impair SAP function. Others result in an abnormally short protein that is unstable or nonfunctional, or prevent any SAP from being produced. | [
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Subsets and Splits