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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 Adenoid cystic carcinoma inherited ? ### Doctor:
Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of the sublingual salivary gland. While ACC appears to generally be sporadic (occurring in people with no family history of ACC), there has been speculation about a possible linkage between salivary gland cancers in general and inherited BRCA gene mutations. However, this potential link needs further investigation. There has also been one report of a case of ACC of the salivary gland occurring in a person with basal cell nevus syndrome, a hereditary syndrome known to predispose affected people to a very wide range of tumors. | [
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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 hyperphosphatemic familial tumoral calcinosis ? ### Doctor:
These resources address the diagnosis or management of hyperphosphatemic familial tumoral calcinosis: - Genetic Testing Registry: Tumoral calcinosis, familial, hyperphosphatemic These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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Is Miyoshi myopathy 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 treatments for adenosine monophosphate deaminase deficiency ? ### Doctor:
These resources address the diagnosis or management of adenosine monophosphate deaminase deficiency: - MedlinePlus Encyclopedia: Muscle aches - MedlinePlus Encyclopedia: Weakness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What are the treatments for osteoglophonic dysplasia ? ### Doctor:
These resources address the diagnosis or management of osteoglophonic dysplasia: - Genetic Testing Registry: Osteoglophonic dysplasia - Seattle Children's Hospital: Dwarfism and Bone Dysplasias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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How many people are affected by fibrodysplasia ossificans progressiva ? ### Doctor:
Fibrodysplasia ossificans progressiva is a very rare disorder, believed to occur in approximately 1 in 2 million people worldwide. Several hundred cases have been reported. | [
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What is (are) Skin Pigmentation Disorders ? ### Doctor:
Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the skin make melanin. When these cells become damaged or unhealthy, it affects melanin production. Some pigmentation disorders affect just patches of skin. Others affect your entire body. If your body makes too much melanin, your skin gets darker. Pregnancy, Addison's disease, and sun exposure all can make your skin darker. If your body makes too little melanin, your skin gets lighter. Vitiligo is a condition that causes patches of light skin. Albinism is a genetic condition affecting a person's skin. A person with albinism may have no color, lighter than normal skin color, or patchy missing skin color. Infections, blisters and burns can also cause lighter skin. | [
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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 beta-hydroxylase deficiency ? ### Doctor:
These resources address the diagnosis or management of dopamine beta-hydroxylase deficiency: - Gene Review: Gene Review: Dopamine Beta-Hydroxylase Deficiency - Genetic Testing Registry: Dopamine beta hydroxylase deficiency - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What is (are) Polycythemia vera ? ### Doctor:
Polycythemia vera (PV) is a condition characterized by an increased number of red blood cells in the bloodstream. Affected people may also have excess white blood cells and platelets. These extra cells cause the blood to be thicker than normal, increasing the risk for blood clots that can block blood flow in arteries and veins. People with PV have an increased risk of deep vein thrombosis which can cause a pulmonary embolism, heart attack, and stroke. Most cases of PV are not inherited and are acquired during a person's lifetime. In rare cases, the risk for PV runs in families and may be inherited in an autosomal dominant manner. The condition has been associated with mutations in the JAK2 and TET2 genes. | [
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What are the treatments for thanatophoric dysplasia ? ### Doctor:
These resources address the diagnosis or management of thanatophoric dysplasia: - Gene Review: Gene Review: Thanatophoric Dysplasia - Genetic Testing Registry: Thanatophoric dysplasia type 1 - Genetic Testing Registry: Thanatophoric dysplasia, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What is (are) Niemann-Pick disease type A ? ### Doctor:
Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. There is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. | [
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What is (are) Microcephalic osteodysplastic primordial dwarfism type 2 ? ### Doctor:
Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner. | [
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What are the symptoms of Ewing sarcoma ? ### Doctor:
What are the signs and symptoms of Ewing sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Ewing sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ewing's sarcoma - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. | [
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What are the treatments for Stroke ? ### Doctor:
Surgery Surgery can be used to prevent stroke, to treat stroke, or to repair damage to the blood vessels or malformations in and around the brain. - Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Vascular Interventions In addition to surgery, a variety of techniques have been developed to allow certain vascular problems to be treated from inside the artery using specialized catheters with the goal of improving blood flow. | [
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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) Leukodystrophy ? ### Doctor:
Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabb disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis. | [
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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 Acromegaly ? ### Doctor:
No single treatment is effective for all patients. Treatment should be individualized, and often combined, depending on patient characteristics such as age and tumor size. If the tumor has not yet invaded surrounding nonpituitary tissues, removal of the pituitary adenoma by an experienced neurosurgeon is usually the first choice. Even if a cure is not possible, surgery may be performed if the patient has symptoms of neurological problems such as loss of peripheral vision or cranial nerve problems. After surgery, hormone levels are measured to determine whether a cure has been achieved. This determination can take up to 8 weeks because IGF-I lasts a long time in the body's circulation. If cured, a patient must be monitored for a long time for increasing GH levels. | [
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Is sialic acid storage disease 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 genetic changes related to triple X syndrome ? ### Doctor:
People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Triple X syndrome results from an extra copy of the X chromosome in each of a female's cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of the usual 46. An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Some females with triple X syndrome have an extra X chromosome in only some of their cells. This phenomenon is called 46,XX/47,XXX mosaicism. | [
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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 Skin Cancer ? ### Doctor:
Early Detection is Important When skin cancer is found early, it is more likely to be treated successfully. Therefore, it is important to know how to recognize the signs of skin cancer in order to improve the chances of early diagnosis. Most non-melanoma skin cancers (basal cell carcinoma and squamous cell carcinoma) can be cured if found and treated early. Skin Changes A change on the skin is the most common sign of skin cancer. This may be a new growth, a sore that doesn't heal, or a change in an old growth. Not all skin cancers look the same. Sometimes skin cancer is painful, but usually it is not. Checking your skin for new growths or other changes is a good idea. Keep in mind that changes are not a sure sign of skin cancer. Still, you should report any changes to your health care provider right away. | [
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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 Kaplan Plauchu Fitch syndrome ? ### Doctor:
What are the signs and symptoms of Kaplan Plauchu Fitch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaplan Plauchu Fitch syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of periauricular region 90% Abnormality of the fingernails 90% Abnormality of the metacarpal bones 90% Abnormality of the toenails 90% Anteverted nares 90% Cleft palate 90% Low-set, posteriorly rotated ears 90% Prominent nasal bridge 90% Proptosis 90% Ptosis 90% Short distal phalanx of finger 90% Short philtrum 90% Short stature 90% Tapered finger 90% Telecanthus 90% Triphalangeal thumb 90% Abnormality of the hip bone 50% Advanced eruption of teeth 50% Choanal atresia 50% Conductive hearing impairment 50% Craniosynostosis 50% Genu valgum 50% Hypertelorism 50% Lacrimation abnormality 50% Microcephaly 50% Myopia 50% Pectus excavatum 50% Sensorineural hearing impairment 50% Sloping forehead 50% Spina bifida occulta 50% Ulnar deviation of finger 50% Abnormal auditory evoked potentials - Abnormality of the vertebral column - Autosomal recessive inheritance - Hypotelorism - Oxycephaly - Preauricular pit - Short 1st metacarpal - Short first metatarsal - 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:
What is (are) Urinary Retention ? ### Doctor:
Urinary retention is the inability to empty the bladder completely. Urinary retention can be acute or chronic. Acute urinary retention happens suddenly and lasts only a short time. People with acute urinary retention cannot urinate at all, even though they have a full bladder. Acute urinary retention, a potentially life-threatening medical condition, requires immediate emergency treatment. Acute urinary retention can cause great discomfort or pain. Chronic urinary retention can be a long-lasting medical condition. People with chronic urinary retention can urinate. However, they do not completely empty all of the urine from their bladders. Often people are not even aware they have this condition until they develop another problem, such as urinary incontinenceloss of bladder control, resulting in the accidental loss of urineor a urinary tract infection (UTI), an illness caused by harmful bacteria growing in the urinary tract. | [
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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) spastic paraplegia type 31 ? ### Doctor:
Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia) caused by degeneration of nerve cells (neurons) that trigger muscle movement. Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types also involve the upper limbs and other areas of the body, including the brain. Spastic paraplegia type 31 is usually a pure hereditary spastic paraplegia, although a few complicated cases have been reported. The first signs and symptoms of spastic paraplegia type 31 usually appear before age 20 or after age 30. | [
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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) Encephalitis Lethargica ? ### Doctor:
Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, and lethargy. In acute cases, patients may enter coma. Patients may also experience abnormal eye movements, upper body weakness, muscular pains, tremors, neck rigidity, and behavioral changes including psychosis. The cause of encephalitis lethargica is unknown. Between 1917 to 1928, an epidemic of encephalitis lethargica spread throughout the world, but no recurrence of the epidemic has since been reported. Postencephalitic Parkinson's disease may develop after a bout of encephalitis-sometimes as long as a year after the illness. | [
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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 Prader-Willi syndrome ? ### Doctor:
How might Prader-Willi syndrome be treated? A multidisciplinary team approach is ideal for the treatment of people with Prader-Willi syndrome (PWS). Early diagnosis, early multidisciplinary care, and growth hormone treatment have greatly improved the quality of life of many affected children. In general, management of this condition depends on the affected person's age and symptoms. When a diagnosis of PWS is made, several evaluations are needed to assess the extent of the condition. For example, newborns should be assessed for sucking problems; infants should be assessed for development; and young children should have a vision exam. All males should be evaluated for the presence of cryptorchidism. Other associated conditions for which evaluations may be recommended include hypothyroidism, scoliosis, behavioral problems, psychosis, and respiratory problems and sleep issues. | [
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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) idiopathic inflammatory myopathy ? ### Doctor:
Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age. The primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years. Other symptoms include joint pain and general tiredness (fatigue). There are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis. Polymyositis and dermatomyositis involve weakness of the muscles closest to the center of the body (proximal muscles), such as the muscles of the hips and thighs, upper arms, and neck. | [
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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) Chilaiditi syndrome ? ### Doctor:
Chilaiditi syndrome is a medical condition in which a portion of the colon is abnormally positioned between the liver and the diaphragm. Symptoms vary, but may include abdominal pain, nausea, vomiting, and small bowel obstruction. In many cases, there are no symptoms and the interposition is an incidental finding. When no symptoms are present, the clinical finding is called Chilaiditi's sign.. The underlying cause of Chilaiditi syndrome is unknown. Treatment is symptomatic and supportive. | [
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What is (are) Darier disease ? ### Doctor:
Darier disease is a skin condition characterized by wart-like blemishes on the body. The blemishes are usually yellowish in color, hard to the touch, mildly greasy, and can emit a strong odor. The most common sites for blemishes are the scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. The mucous membranes can also be affected, with blemishes on the roof of the mouth (palate), tongue, inside of the cheek, gums, and throat. Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet. The wart-like blemishes characteristic of Darier disease usually appear in late childhood to early adulthood. The severity of the disease varies over time; affected people experience flare-ups alternating with periods when they have fewer blemishes. | [
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Is Retinoblastoma inherited ? ### Doctor:
Retinoblastoma occurs in heritable and nonheritable forms. A child is thought to have the heritable form of retinoblastoma when one of the following is true: - There is a family history of retinoblastoma. - There is a certain mutation (change) in the RB1 gene. The mutation in the RB1 gene may be passed from the parent to the child or it may occur in the egg or sperm before conception or soon after conception. - There is more than one tumor in the eye or there is a tumor in both eyes. - There is a tumor in one eye and the child is younger than 1 year. After heritable retinoblastoma has been diagnosed and treated, new tumors may continue to form for a few years. Regular eye exams to check for new tumors are usually done every 2 to 4 months for at least 28 months. Nonheritable retinoblastoma is retinoblastoma that is not the heritable form. | [
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What are the genetic changes related to spinal muscular atrophy with respiratory distress type 1 ? ### Doctor:
Mutations in the IGHMBP2 gene cause SMARD1. The IGHMBP2 gene provides instructions for making a protein involved in copying (replicating) DNA; producing RNA, a chemical cousin of DNA; and producing proteins. IGHMBP2 gene mutations that cause SMARD1 lead to the production of a protein with reduced ability to aid in DNA replication and the production of RNA and proteins. These problems particularly affect alpha-motor neurons, which are specialized cells in the brainstem and spinal cord that control muscle movements. Although the mechanism is unknown, altered IGHMBP2 proteins contribute to the damage of these neurons and their death over time. The cumulative death of alpha-motor neurons leads to breathing problems and progressive muscle weakness in children with SMARD1. | [
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Is spastic paraplegia type 3A inherited ? ### Doctor:
Spastic paraplegia type 3A is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 95 percent of cases, an affected person inherits the mutation from one affected parent. | [
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What is (are) Charcot-Marie-Tooth Disease ? ### Doctor:
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in theUnited States. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falling. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards), are also characteristic due to weakness of the small muscles in the feet. | [
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How many people are affected by DOLK-congenital disorder of glycosylation ? ### Doctor:
DOLK-CDG is likely a rare condition; at least 18 cases have been reported in the scientific 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 is the outlook for Miller Fisher Syndrome ? ### Doctor:
The prognosis for most individuals with Miller Fisher syndrome is good. In most cases, recovery begins within 2 to 4 weeks of the onset of symptoms, and may be almost complete within 6 months. Some individuals are left with residual deficits. Relapses may occur rarely (in less than 3 percent of cases). | [
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What to do for Smoking and the Digestive System ? ### Doctor:
Eating, diet, and nutrition can play a role in causing, preventing, and treating some of the diseases and disorders of the digestive system that are affected by smoking, including heartburn and GERD, liver diseases, Crohns disease, colon polyps, pancreatitis, and gallstones. More information about eating, diet, and nutrition and these conditions can be found on the Digestive Diseases A-Z list. | [
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What are the genetic changes related to severe congenital neutropenia ? ### Doctor:
Severe congenital neutropenia can result from mutations in at least five different genes. These genes play a role in the maturation and function of neutrophils, which are cells produced by the bone marrow. Neutrophils secrete immune molecules and ingest and break down foreign invaders. Gene mutations that cause severe congenital neutropenia lead to the production of neutrophils that die off quickly or do not function properly. Some gene mutations result in unstable proteins that build up in neutrophils, leading to cell death. Other gene mutations result in proteins that impair the maturation or function of neutrophils, preventing these cells from responding appropriately to immune signals. About half of all cases of severe congenital neutropenia are caused by mutations in the ELANE gene. | [
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What are the symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa ? ### Doctor:
What are the signs and symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa. 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) Amelogenesis imperfecta - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad ribs - Photophobia - Prominent deltoid tuberosities - Reduced visual acuity - Rhizomelia - Rod-cone dystrophy - Scoliosis - Short clavicles - Short femoral neck - Short humerus - Short neck - Short ribs - Strabismus - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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How to diagnose Tietze syndrome ? ### Doctor:
How is Tietze syndrome diagnosed? Tietze syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction) after other conditions with similar signs and symptoms have been ruled out. A thorough physical exam and various tests (i.e. electrocardiogram, x-ray, CT scan) may be necessary to exclude other conditions. | [
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What are the genetic changes related to thiopurine S-methyltransferase deficiency ? ### Doctor:
TPMT deficiency results from changes in the TPMT gene. This gene provides instructions for making the TPMT enzyme, which plays a critical role in breaking down (metabolizing) thiopurine drugs. Once inside the body, these drugs are converted to toxic compounds that kill immune system cells in the bone marrow. The TPMT enzyme "turns off" thiopurine drugs by breaking them down into inactive, nontoxic compounds. Changes in the TPMT gene reduce the stability and activity of the TPMT enzyme. Without enough of this enzyme, the drugs cannot be "turned off," so they stay in the body longer and continue to destroy cells unchecked. The resulting damage to the bone marrow leads to potentially life-threatening myelosuppression. | [
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What is (are) Retinal Disorders ? ### Doctor:
The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. It provides the sharp, central vision needed for reading, driving and seeing fine detail. Retinal disorders affect this vital tissue. They can affect your vision, and some can be serious enough to cause blindness. Examples are - Macular degeneration - a disease that destroys your sharp, central vision - Diabetic eye disease - Retinal detachment - a medical emergency, when the retina is pulled away from the back of the eye - Retinoblastoma - cancer of the retina. It is most common in young children. - Macular pucker - scar tissue on the macula - Macular hole - a small break in the macula that usually happens to people over 60 - Floaters - cobwebs or specks in your field of vision NIH: National Eye Institute | [
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What are the treatments for Gout ? ### Doctor:
Physicians often prescribe high doses of non-steroidal anti-inflammatory drugs (NSAIDs) or steroids for a sudden attack of gout. NSAIDs are taken by mouth and corticosteroids are either taken by mouth or injected into the affected joint. Patients often begin to improve within a few hours of treatment, and the attack usually goes away completely within a week or so. When NSAIDs or corticosteroids fail to control pain and swelling, the doctor may use another drug, colchicine. This drug is most effective when taken within the first 12 hours of an acute attack. For patients who have repeated gout attacks, the doctor may prescribe medicine such as allupurinol, febuxostat, or probenecid to lower uric acid levels. In severe cases of gout that do not respond to other treatments, pegloticase, a medicine administered by intravenous infusion, may be prescribed to reduce levels of uric acid. | [
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Is Leber congenital amaurosis inherited ? ### Doctor:
Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance 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. When Leber congenital amaurosis is caused by mutations in the CRX or IMPDH1 genes, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person inherits a gene mutation from one affected parent. Other cases result from new mutations and occur in people with no history of the disorder in their family. | [
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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) microphthalmia with linear skin defects syndrome ? ### Doctor:
Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths along which cells migrate as the skin develops before birth (lines of Blaschko). The skin defects generally improve over time and leave variable degrees of scarring. The signs and symptoms of microphthalmia with linear skin defects syndrome vary widely, even among affected individuals within the same family. In addition to the characteristic eye problems and skin markings, this condition can cause abnormalities in the brain, heart, and genitourinary system. | [
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Who is at risk for Respiratory Failure? ? ### Doctor:
People who have diseases or conditions that affect the muscles, nerves, bones, or tissues that support breathing are at risk for respiratory failure. People who have lung diseases or conditions also are at risk for respiratory failure. For more information, go to "What Causes Respiratory Failure?" | [
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Is familial restrictive cardiomyopathy inherited ? ### Doctor:
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | [
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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) Alcohol Use and Older Adults ? ### Doctor:
If a person drinks too much or too often he or she may develop an alcohol use disorder (AUD). An AUD can range in severity from mild to severe. On one end of this spectrum, drinking might cause sickness, depression, or sleeping problems. More severe symptoms include drinking more than intended or craving alcohol once youve stopped drinking. AUD can be a lifelong disease in which people have a strong need to drink, cannot control their drinking once they start, and over time need to drink greater and greater amounts of alcohol to get high. Older adults who develop a severe AUD become physically dependent on alcohol. When they stop drinking, they can get nauseated, sweaty, shaky, and restless. These withdrawal symptoms can cause them to start drinking again to feel better, even though doing so can lead to physical or psychological problems. | [
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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 Alport syndrome ? ### Doctor:
What are the signs and symptoms of Alport syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alport 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) Glomerulopathy 90% Retinopathy 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia of the lens 50% Aseptic leukocyturia 50% Cataract 50% Dry skin 50% Edema of the lower limbs 50% Hypertension 50% Migraine 50% Nephrotic syndrome 50% Pallor 50% Periorbital edema 50% Proteinuria 50% Renal insufficiency 50% Respiratory insufficiency 50% Tinnitus 50% Weight loss 50% Abdominal situs inversus 7.5% Abnormality of the macula 7.5% Corneal dystrophy 7.5% Feeding difficulties in infancy 7.5% Myopia 7.5% Nausea and vomiting 7.5% Neoplasm of the colon 7.5% Photophobia 7.5% Sarcoma 7.5% Thrombocytopenia 7.5% Uterine neoplasm 7.5% Anterior lenticonus - Congenital cataract - Corneal erosion - Diffuse glomerular basement membrane lamellation - Diffuse leiomyomatosis - Heterogeneous - Hypoparathyroidism - Ichthyosis - Microscopic hematuria - Nephritis - Progressive - Stage 5 chronic kidney disease - X-linked dominant inheritance - 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) Autoimmune myocarditis ? ### Doctor:
Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended. | [
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Is Graves disease inherited ? ### Doctor:
The inheritance pattern of Graves disease is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Graves disease or another autoimmune disorder likely increases a person's risk of developing the condition. | [
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Is Barth syndrome inherited ? ### Doctor:
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 two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. | [
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What is (are) Erdheim-Chester disease ? ### Doctor:
Erdheim-Chester disease is a rare disorder characterized by histiocytosis, a condition in which the immune system produces excess quantities of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. Erdheim-Chester disease is classified as a form of non-Langerhans cell histiocytosis to distinguish it from Langerhans cell histiocytosis, which involves accumulation of a specific type of histiocyte called Langerhans cells. In Erdheim-Chester disease, histiocytosis leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure. People with Erdheim-Chester disease often have bone pain, especially in the lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). | [
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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 Primary orthostatic tremor ? ### Doctor:
What are the signs and symptoms of Primary orthostatic tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary orthostatic tremor. 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) EMG abnormality 90% Flexion contracture 90% Tremor 90% Myalgia 50% Abnormality of extrapyramidal motor function 7.5% 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. | [
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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 Crohn disease ? ### Doctor:
Crohn disease is related to chromosomes 5 and 10. Variations of the ATG16L1, IRGM, and NOD2 genes increase the risk of developing Crohn disease. The IL23R gene is associated with Crohn disease. A variety of genetic and environmental factors likely play a role in causing Crohn disease. Although researchers are studying risk factors that may contribute to this complex disorder, many of these factors remain unknown. Cigarette smoking is thought to increase the risk of developing this disease, and it may also play a role in periodic flare-ups of signs and symptoms. Studies suggest that Crohn disease may result from a combination of certain genetic variations, changes in the immune system, and the presence of bacteria in the digestive tract. | [
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How to diagnose Cold urticaria ? ### Doctor:
How is cold urticaria diagnosed? A diagnosis of cold urticaria is typically suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and determine if there are other associated conditions. This generally involves a cold simulation test in which a cold object (such as an ice cube) is applied against the skin of the forearm for 1-5 minutes. In people affected by cold urticaria, a distinct red and swollen rash will generally develop within minutes of exposure. A complete blood count and/or metabolic tests may also be performed to determine associated diseases. | [
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What is (are) N-acetylglutamate synthase deficiency ? ### Doctor:
N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. N-acetylglutamate synthase deficiency may become evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications of N-acetylglutamate synthase deficiency may include developmental delay and intellectual disability. | [
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What causes Human T-cell leukemia virus type 1 ? ### Doctor:
What causes human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-1 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. It is unclear why some people with HTLV-1 develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions, while others remain asymptomatic (show no signs or symptoms) their entire lives. | [
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What are the symptoms of Gas in the Digestive Tract ? ### Doctor:
The most common symptoms of gas are burping, passing gas, bloating, and abdominal pain or discomfort. However, not everyone experiences these symptoms. Burping. Burping, or belching, once in a while, especially during and after meals, is normal. However, people who burp frequently may be swallowing too much air and releasing it before the air enters the stomach. Some people who burp frequently may have an upper GI disorder, such as gastroesophageal reflux diseasea chronic condition in which stomach contents flow back up into the esophagus. People may believe that swallowing air and releasing it will relieve the discomfort, and they may intentionally or unintentionally develop a habit of burping to relieve discomfort. Passing gas. Passing gas around 13 to 21 times a day is normal.2 Flatulence is excessive gas in the stomach or intestine that can cause bloating and flatus. | [
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What are the treatments for branchio-oculo-facial syndrome ? ### Doctor:
These resources address the diagnosis or management of branchio-oculo-facial syndrome: - Gene Review: Gene Review: Branchiooculofacial Syndrome - Genetic Testing Registry: Branchiooculofacial syndrome - MedlinePlus Encyclopedia: Cleft Lip and Palate 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 Familial osteochondritis dissecans ? ### Doctor:
How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan). For more information about the diagnosis of osteochondritis dissecans, please click here. | [
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What is (are) septo-optic dysplasia ? ### Doctor:
Septo-optic dysplasia is a disorder of early brain development. Although its signs and symptoms vary, this condition is traditionally defined by three characteristic features: underdevelopment (hypoplasia) of the optic nerves, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia. The first major feature, optic nerve hypoplasia, is the underdevelopment of the optic nerves, which carry visual information from the eyes to the brain. In affected individuals, the optic nerves are abnormally small and make fewer connections than usual between the eyes and the brain. As a result, people with optic nerve hypoplasia have impaired vision in one or both eyes. Optic nerve hypoplasia can also be associated with unusual side-to-side eye movements (nystagmus) and other eye abnormalities. | [
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How many people are affected by Ehlers-Danlos syndrome ? ### Doctor:
Although it is difficult to estimate the overall frequency of Ehlers-Danlos syndrome, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. The hypermobility and classical forms are most common; the hypermobility type may affect as many as 1 in 10,000 to 15,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people. Other forms of Ehlers-Danlos syndrome are very rare. About 30 cases of the arthrochalasia type and about 60 cases of the kyphoscoliosis type have been reported worldwide. About a dozen infants and children with the dermatosparaxis type have been described. The vascular type is also rare; estimates vary widely, but the condition may affect about 1 in 250,000 people. | [
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What are the symptoms of Nevi flammei, familial multiple ? ### Doctor:
What are the signs and symptoms of Nevi flammei, familial multiple? The Human Phenotype Ontology provides the following list of signs and symptoms for Nevi flammei, familial multiple. 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) Arteriovenous malformation 90% Hypermelanotic macule 90% Abnormality of the cranial nerves 7.5% Abnormality of the upper limb 7.5% Arrhythmia 7.5% Cerebral calcification 7.5% Cognitive impairment 7.5% Edema 7.5% Glaucoma 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Lower limb asymmetry 7.5% Pulmonary embolism 7.5% Scoliosis 7.5% Seizures 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Venous insufficiency 7.5% Autosomal dominant inheritance - Nevus flammeus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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How many people are affected by anencephaly ? ### Doctor:
Anencephaly is one of the most common types of neural tube defect, affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end in miscarriage, so the prevalence of this condition in newborns is much lower. An estimated 1 in 10,000 infants in the United States is born with anencephaly. | [
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Is Nicolaides-Baraitser syndrome inherited ? ### Doctor:
Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. | [
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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 Circumcision
### Doctor:
Summary : Circumcision is the removal of the foreskin, which is the skin that covers the tip of the penis. In the United States, it is often done before a new baby leaves the hospital. There are medical benefits and risks to circumcision. Possible benefits include a lower risk of urinary tract infections, penile cancer and sexually transmitted diseases. The risks include pain and a low risk of bleeding or infection. The American Academy of Pediatrics (AAP) found that the medical benefits of circumcision outweigh the risks. They recommend that parents make this decision in consultation with their pediatrician. Parents need to decide what is best for their sons, based on their religious, cultural and personal preferences. | [
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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 the outlook for Transverse Myelitis ? ### Doctor:
Most individuals will have only one episode of transverse myelitis. Recovery usually begins within 2 to 12 weeks of the onset of symptoms and may continue for up to 2 years and in some cases longer--requiring aggressive physical therapy and rehabilitation. However, if there is no improvement within the first 3 to 6 months, complete recovery is unlikely (although some recovery can occur). Historic data, shows that about one-third of people affected with transverse myelitis experience good or full recovery from their symptoms. Another one-third show only fair recovery and are left with significant deficits. The remaining one-third show no recovery at all, with marked dependence on others for basic functions of daily living. New, more aggressive treatment protocols may result in greater recovery statistics. | [
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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) Gastroparesis ? ### Doctor:
The problems of gastroparesis can include
- severe dehydration due to persistent vomiting - gastroesophageal reflux disease (GERD), which is GER that occurs more than twice a week for a few weeks; GERD can lead to esophagitis irritation of the esophagus - bezoars, which can cause nausea, vomiting, obstruction, or interfere with absorption of some medications in pill form - difficulty managing blood glucose levels in people with diabetes - malnutrition due to poor absorption of nutrients or a low calorie intake - decreased quality of life, including work absences due to severe symptoms | [
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What are the treatments for Hereditary cerebral hemorrhage with amyloidosis ? ### Doctor:
How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. This can include physical, occupational, or speech therapy. Occasionally, some patients are good candidates for medications that can help improve memory. The management of intracranial hemorrhage (ICH) related to hereditary cerebral hemorrhage with amyloidosis - Dutch type is identical to the standard management of ICH. The main objectives include reversing anticoagulation, managing intracranial pressure, and preventing complications. | [
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What is (are) Heart Disease in Women ? ### Doctor:
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 reason people have heart attacks. Heart diseases that affect women more than men include - Coronary microvascular disease (MVD) - a problem that affects the heart's tiny arteries - Broken heart syndrome - extreme emotional stress leading to severe but often short-term heart muscle failure The older a woman gets, the more likely she is to get heart disease. But women of all ages should be concerned about heart disease. All women can take steps to prevent it by practicing healthy lifestyle habits. | [
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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 What I need to know about Kidney Stones ? ### Doctor:
The treatment for kidney stones usually depends on their size and what they are made of. Kidney stones may be treated by your regular doctor or by a urologista doctor who specializes in the urinary tract. You may need treatment if you have symptoms or if a kidney stone is blocking your urinary tract. Small stones dont usually need treatment. Still, you may need pain medicine. You should also drink lots of fluids to help move the stone along. If you are vomiting often or dont drink enough fluids, you may need to go to the hospital and get fluids through a needle in your arm. If you have a large kidney stone or your urinary tract is blocked, the urologist can remove the stone or break it into small pieces with the following treatments: | [
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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) Insomnia ? ### Doctor:
Espaol
Insomnia (in-SOM-ne-ah) is a common sleep disorder. People who have insomnia have trouble falling asleep, staying asleep, or both. As a result, they may get too little sleep or have poor-quality sleep. They may not feel refreshed when they wake up. Overview
Insomnia can be acute (short-term) or chronic (ongoing). Acute insomnia is common and often is brought on by situations such as stress at work, family pressures, or a traumatic event. Acute insomnia lasts for days or weeks. Chronic insomnia lasts for a month or longer. Most cases of chronic insomnia are secondary, which means they are the symptom or side effect of some other problem. Certain medical conditions, medicines, sleep disorders, and substances can cause secondary insomnia. In contrast, primary insomnia isn't due to medical problems, medicines, or other substances. | [
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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 Pyruvate kinase deficiency ? ### Doctor:
How might pyruvate kinase deficiency be treated? Mild cases require no treatment. People with severe anemia may need blood transfusions. In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to help reduce the destruction of red blood cells. However, this does not help in all cases. With small children, this is delayed as long as possible to allow the immune system to mature. Other treatment is symptomatic and supportive. Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5. An article from eMedicine Journal provides additional information on treatment for pyruvate kinase deficiency at the following link. | [
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What is (are) Familial prostate cancer ? ### Doctor:
Familial prostate cancer is a cluster of prostate cancer within a family. Most cases of prostate cancer occur sporadically in people with no family history of the condition. However, approximately 5% to 10% of prostate cancer cases are believed to be primarily caused by a genetic predisposition to the condition. In many families, the underlying genetic cause is unknown; however, some of these cases are caused by changes (mutations) in the BRCA1, BRCA2, HOXB13, or several other genes. Other cases are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening at an earlier age is typically recommended in men who have an increased risk for prostate cancer based on personal and/or family histories. | [
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What is (are) Cataract ? ### Doctor:
Yes. Although most cataracts are related to aging, there are other types of cataract. These include - secondary cataract - traumatic cataract - congenital cataract - radiation cataract. secondary cataract traumatic cataract congenital cataract radiation cataract. Secondary cataracts can form after surgery for other eye problems, such as glaucoma. They also can develop in people who have other health problems, such as diabetes. Secondary cataracts are sometimes linked to steroid use. Traumatic cataracts can develop after an eye injury, sometimes years later. Some babies are born with cataracts or develop them in childhood, often in both eyes. These congenital cataracts may be so small that they do not affect vision. If they do, the lenses may need to be removed. Radiation cataracts can develop after exposure to some types of radiation. | [
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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 Langer-Giedion syndrome ? ### Doctor:
These resources address the diagnosis or management of Langer-Giedion syndrome: - Genetic Testing Registry: Langer-Giedion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care | [
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What is (are) Tethered Spinal Cord Syndrome ? ### Doctor:
Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. This type of tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. | [
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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 Urine Blockage in Newborns ? ### Doctor:
Defects of the urinary tract may be diagnosed before or after the baby is born. Diagnosis before Birth
Tests during pregnancy can help determine if the baby is developing normally in the womb. - Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A prenatal ultrasound can show internal organs within the baby. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by - a radiologista doctor who specializes in medical imaging, or - an obstetriciana doctor who delivers babies
The images can show enlarged kidneys, ureters, or bladders in babies. | [
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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) Adult-onset Still's disease ? ### Doctor:
Adult-onset Still's disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still's disease may lead to chronic arthritis and other complications. Still's disease was named after an English doctor named George Still, who described the condition in children in 1896. Still's disease which occurs in children (those under the age of 16) is now known as systemic onset juvenile rheumatoid arthritis (JRA). In 1971, the term "adult Still's disease" was used to describe adults who had a condition similar to systemic onset JRA. The cause of adult-onset Still's disease is unknown. No risk factors for the disease have been identified. There's no cure for adult-onset Still's disease; however, treatment may offer symptom relief and help prevent complications. | [
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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) Cardiogenic Shock ? ### Doctor:
Cardiogenic (kar-dee-oh-JE-nik) shock is a condition in which a suddenly weakened heart isn't able to pump enough blood to meet the body's needs. The condition is a medical emergency and is fatal if not treated right away. The most common cause of cardiogenic shock is damage to the heart muscle from a severe heart attack. However, not everyone who has a heart attack has cardiogenic shock. In fact, on average, only about 7 percent of people who have heart attacks develop the condition. If cardiogenic shock does occur, it's very dangerous. When people die from heart attacks in hospitals, cardiogenic shock is the most common cause of death. What Is Shock? The medical term "shock" refers to a state in which not enough blood and oxygen reach important organs in the body, such as the brain and kidneys. | [
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What is (are) Gliomatosis cerebri ? ### Doctor:
Gliomatosis cerebri is a type of brain cancer. It is a variant form of glioblastoma multiforme. It is characterized by scattered and widespread tumor cells that can cause the cerebrum, cerebellum, or brain stem to enlarge. Signs and symptoms may include personality changes, memory disturbance, headache, hemiparesis, and seizures. Because this tumor is so diffuse it can be challenging to treat and the prognosis for people with gliomatosis cerebri is generally poor. | [
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What are the symptoms of Leri pleonosteosis ? ### Doctor:
What are the signs and symptoms of Leri pleonosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri pleonosteosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Genu recurvatum 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Short stature 90% Thickened skin 90% Upslanted palpebral fissure 90% Abnormally straight spine 50% Blepharophimosis 50% Cubitus valgus 50% Scoliosis 50% Elbow dislocation 7.5% Strabismus 7.5% Microcornea 5% Abnormality of the carpal bones - Abnormality of the vertebral column - Autosomal dominant inheritance - Broad metacarpals - Broad thumb - Enlarged interphalangeal joints - Hallux valgus - Joint stiffness - Laryngeal stenosis - Pes cavus - Short metacarpal - Short metatarsal - Short palm - Short stepped shuffling gait - Short thumb - 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:
What is (are) 17-beta hydroxysteroid dehydrogenase 3 deficiency ? ### Doctor:
17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, the external genitalia are ambiguous or appear male but are abnormal in size and/or appearance. During puberty, people with this condition typically go on to develop male secondary sex characteristics, such as increased muscle mass, deepening of the voice, and development of male pattern body hair. 17-beta hydroxysteroid dehydrogenase 3 deficiency is caused by mutations in the HSD17B3 gene and is inherited in an autosomal recessive pattern. | [
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What is (are) 22q11.2 duplication syndrome ? ### Doctor:
22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the condition have no apparent physical or intellectual disabilities. It is inherited in an autosomal dominant manner, with about 70% genes of affected individuals inheriting the condition from a parent. In other cases it occurs as a de novo mutation (new genetic change) in an individual; however, individuals with a de novo mutation can can pass the duplication to their children. | [
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How to diagnose What I need to know about My Child's Urinary Tract Infection ? ### Doctor:
A UTI is diagnosed by testing a sample of your childs urine. The way the urine is collected depends on your childs age:
The health care provider looks at the urine sample with a microscope to check for bacteria or pus. The sample is also sent to a lab. The lab performs a urine culture by placing the sample in a tube or dish with a substance that encourages any bacteria present to grow. The bacteria that grow can be identified and tested to see which medicines will work best to treat the infection. A urine culture usually takes 1 to 3 days to complete. | [
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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) Sudden Cardiac Arrest ? ### Doctor:
Sudden cardiac arrest (SCA) is a condition in which the heart suddenly and unexpectedly stops beating. If this happens, blood stops flowing to the brain and other vital organs. SCA usually causes death if it's not treated within minutes. Overview
To understand SCA, it helps to understand how the heart works. The heart has an electrical system that controls the rate and rhythm of the heartbeat. Problems with the heart's electrical system can cause irregular heartbeats called arrhythmias. There are many types of arrhythmias. During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm. Some arrhythmias can cause the heart to stop pumping blood to the bodythese arrhythmias cause SCA. SCA is not the same as a heart attack. A heart attack occurs if blood flow to part of the heart muscle is blocked. | [
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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) autosomal recessive axonal neuropathy with neuromyotonia ? ### Doctor:
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that affects the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Axonal neuropathy, a characteristic feature of this condition, is caused by damage to a particular part of peripheral nerves called axons, which are the extensions of nerve cells (neurons) that transmit nerve impulses. In people with autosomal recessive axonal neuropathy with neuromyotonia, the damage primarily causes progressive weakness and wasting (atrophy) of muscles in the feet, legs, and hands. Muscle weakness may be especially apparent during exercise (exercise intolerance) and can lead to an unusual walking style (gait), frequent falls, and joint deformities (contractures) in the hands and feet. | [
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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 stages of Myelodysplastic/ Myeloproliferative Neoplasms ? ### Doctor:
Key Points
- There is no standard staging system for myelodysplastic/myeloproliferative neoplasms. There is no standard staging system for myelodysplastic/myeloproliferative neoplasms. Staging is the process used to find out how far the cancer has spread. There is no standard staging system for myelodysplastic /myeloproliferative neoplasms. Treatment is based on the type of myelodysplastic/myeloproliferative neoplasm the patient has. It is important to know the type in order to plan treatment. | [
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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 Celiac Disease ? ### Doctor:
A person may experience digestive signs and symptoms, or symptoms in other parts of the body. Digestive signs and symptoms are more common in children and can include
- abdominal bloating - chronic diarrhea - constipation - gas - pale, foul-smelling, or fatty stool - stomach pain - nausea - vomiting
Being unable to absorb nutrients during the years when nutrition is critical to a child's normal growth and development can lead to other health problems, such as
- failure to thrive in infants - slowed growth and short stature - weight loss - irritability or change in mood - delayed puberty - dental enamel defects of permanent teeth
Adults are less likely to have digestive signs and symptoms and may instead have one or more of the following:
- anemia - bone or joint pain - canker sores inside the mouth - depression or anxiety - dermatitis herpetiformis, an itchy, blistering skin rash - fatigue, or feeling tired - infertility or recurrent miscarriage - missed menstrual periods - seizures - tingling numbness in the hands and feet - weak and brittle bones, or osteoporosis - headaches
Intestinal inflammation can cause other symptoms, such as
- feeling tired for long periods of time - abdominal pain and bloating - ulcers - blockages in the intestine
Celiac disease can produce an autoimmune reaction, or a self-directed immune reaction, in which a person's immune system attacks healthy cells in the body. | [
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are certain people at risk of getting vancomycin-resistant enterococci? ### Doctor:
On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. | [
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What are the symptoms of Mental retardation Smith Fineman Myers type ? ### Doctor:
What are the signs and symptoms of Mental retardation Smith Fineman Myers type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation Smith Fineman Myers type. 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 is (are) Ankle Injuries and Disorders ? ### Doctor:
Your ankle bone and the ends of your two lower leg bones make up the ankle joint. Your ligaments, which connect bones to one another, stabilize and support it. Your muscles and tendons move it. The most common ankle problems are sprains and fractures. A sprain is an injury to the ligaments. It may take a few weeks to many months to heal completely. A fracture is a break in a bone. You can also injure other parts of the ankle such as tendons, which join muscles to bone, and cartilage, which cushions your joints. Ankle sprains and fractures are common sports injuries. | [
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what research (or clinical trials) is being done for Klippel-Trenaunay Syndrome (KTS) ? ### Doctor:
The NINDS supports research on congenital disorders such as KTS with the goal of finding new means to treat and prevent them. | [
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How many people are affected by Shprintzen-Goldberg syndrome ? ### Doctor:
Shprintzen-Goldberg syndrome is a rare condition, although its prevalence is unknown. It is difficult to identify the number of affected individuals, because some cases diagnosed as Shprintzen-Goldberg syndrome may instead be Marfan syndrome or Loeys-Dietz syndrome, which have overlapping signs and symptoms. | [
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How many people are affected by dilated cardiomyopathy with ataxia syndrome ? ### Doctor:
DCMA syndrome is a very rare disorder. Approximately 30 cases have been identified in the Dariusleut Hutterite population of the Great Plains region of Canada. Only a few affected individuals have been identified outside this population. | [
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What causes Heart Disease in Women ? ### Doctor:
Research suggests thatcoronary heart disease(CHD) begins with damage to the lining and inner layers of the coronary (heart) arteries. Several factors contribute to this damage. They include:
Smoking, including secondhand smoke
High amounts of certain fats andcholesterol in the blood
High blood pressure
High amounts of sugar in the blood due to insulin resistance or diabetes
Blood vessel inflammation
Plaque may begin to build up where the arteries are damaged. The buildup of plaque in the coronary arteries may start in childhood. Over time, plaque can harden or rupture (break open). Hardened plaque narrows the coronary arteries and reduces the flow of oxygen-rich blood to the heart. | [
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What are the treatments for Amyloidosis and Kidney Disease ? ### Doctor:
A health care provider treats primary amyloidosis of the kidneys with the following:
- medication therapy, including chemotherapy - a stem cell transplant - treating other conditions
Medication therapy. The goal of medication therapy, including chemotherapy, is to reduce amyloid protein levels in the blood. Many health care providers recommend combination medication therapy such as
- melphalan (Alkeran), a type of chemotherapy - dexamethasone (Decadron), an anti-inflammatory steroid medication
These medications can stop the growth of the cells that make amyloid proteins. These medications may cause hair loss and serious side effects, such as nausea, vomiting, and fatigue. Stem cell transplant. | [
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What are the treatments for Pseudotumor Cerebri ? ### Doctor:
Obesity, other treatable diseases, and some medications can cause raised intracranial pressure and symptoms of pseudotumor cerebri. A thorough medical history and physical examination is needed to evaluate these factors. If a diagnosis of pseudotumor cerebri is confirmed, close, repeated ophthalmologic exams are required to monitor any changes in vision. Drugs may be used to reduce fluid buildup and to relieve pressure. Weight loss through dieting or weight loss surgery and cessation of certain drugs (including oral contraceptives, tetracycline, and a variety of steroids) may lead to improvement. Surgery may be needed to remove pressure on the optic nerve. Therapeutic shunting, which involves surgically inserting a tube to drain CSF from the lower spine into the abdominal cavity, may be needed to remove excess CSF and relieve CSF pressure. | [
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What are the genetic changes related to systemic scleroderma ? ### Doctor:
Researchers have identified variations in several genes that may influence the risk of developing systemic scleroderma. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Specific normal variations of several HLA genes seem to affect the risk of developing systemic scleroderma. Normal variations in other genes related to the body's immune function, such as IRF5 and STAT4, are also associated with an increased risk of developing systemic scleroderma. | [
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What are the symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis ? ### Doctor:
What are the signs and symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis. 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) Acidosis - Aminoaciduria - Autosomal recessive inheritance - Intellectual disability - Muscular dystrophy - Osteoporosis - Severe 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 is (are) Parasites - Toxoplasmosis (Toxoplasma infection) ? ### Doctor:
A single-celled parasite called Toxoplasma gondii causes a disease known as toxoplasmosis. While the parasite is found throughout the world, more than 60 million people in the United States may be infected with the Toxoplasma parasite. Of those who are infected, very few have symptoms because a healthy person’s immune system usually keeps the parasite from causing illness. However, pregnant women and individuals who have compromised immune systems should be cautious; for them, a Toxoplasma infection could cause serious health problems. | [
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What is (are) Peptic Ulcer ? ### Doctor:
A peptic ulcer is a sore in the lining of your stomach or your duodenum, the first part of your small intestine. A burning stomach pain is the most common symptom. The pain - Starts between meals or during the night - Briefly stops if you eat or take antacids - Lasts for minutes to hours - Comes and goes for several days or weeks Peptic ulcers happen when the acids that help you digest food damage the walls of the stomach or duodenum. The most common cause is infection with a bacterium called Helicobacter pylori. Another cause is the long-term use of nonsteroidal anti-inflammatory medicines (NSAIDs) such as aspirin and ibuprofen. Stress and spicy foods do not cause ulcers, but can make them worse. To see if you have an H. pylori infection, your doctor will test your blood, breath, or stool. | [
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