umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Bjornstad syndrome ?

Answer: What are the signs and symptoms of Bjornstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bjornstad syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Hypertrichosis 90% Pili torti 90% Sensorineural hearing impairment 90% Alopecia 50% Intellectual disability 5% Anhidrosis - Autosomal recessive inheritance - Brittle hair - Coarse hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypogonadism - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Spondyloepiphyseal dysplasia ?

Answer: What are the signs and symptoms of Spondyloepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia. 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 epiphysis morphology 90% Abnormality of the metaphyses 90% Limb undergrowth 90% Platyspondyly 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Abnormality of the hip bone 50% Cleft palate 50% Hyperlordosis 50% Myopia 50% Osteoarthritis 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of DCMA syndrome ?

Answer: What are the signs and symptoms of DCMA syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DCMA 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) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the genetic changes related to familial male-limited precocious puberty ?

Answer: Familial male-limited precocious puberty can be caused by mutations in the LHCGR gene. This gene provides instructions for making a receptor protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function.  The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. Androgens, including testosterone, are the hormones that control male sexual development and reproduction. In females, luteinizing hormone triggers the release of egg cells from the ovaries (ovulation); chorionic gonadotropin is produced during pregnancy and helps maintain conditions necessary for the pregnancy to continue.  Certain LHCGR gene mutations result in a receptor protein that is constantly turned on (constitutively activated), even when not attached (bound) to luteinizing hormone or chorionic gonadotropin. In males, the overactive receptor causes excess production of testosterone, which triggers male sexual development and lead to early puberty in affected individuals. The overactive receptor has no apparent effect on females.  Approximately 18 percent of individuals with familial male-limited precocious puberty have no identified LHCGR gene mutation. In these individuals, the cause of the disorder is unknown.
Question: What are the genetic changes related to piebaldism ?

Answer: Piebaldism can be caused by mutations in the KIT and SNAI2 genes. Piebaldism may also be a feature of other conditions, such as Waardenburg syndrome; these conditions have other genetic causes and additional signs and symptoms.  The KIT gene provides instructions for making a protein that is involved in signaling within cells. KIT protein signaling is important for the development of certain cell types, including melanocytes. The KIT gene mutations responsible for piebaldism lead to a nonfunctional KIT protein. The loss of KIT signaling is thought to disrupt the growth and division (proliferation) and movement (migration) of melanocytes during development, resulting in patches of skin that lack pigmentation.  The SNAI2 gene (often called SLUG) provides instructions for making a protein called snail 2. Research indicates that the snail 2 protein is required during embryonic growth for the development of cells called neural crest cells. Neural crest cells migrate from the developing spinal cord to specific regions in the embryo and give rise to many tissues and cell types, including melanocytes. The snail 2 protein probably plays a role in the formation and survival of melanocytes. SNAI2 gene mutations that cause piebaldism probably reduce the production of the snail 2 protein. Shortage of the snail 2 protein may disrupt the development of melanocytes in certain areas of the skin and hair, causing the patchy loss of pigment.  Piebaldism is sometimes mistaken for another condition called vitiligo, which also causes unpigmented patches of skin. People are not born with vitiligo, but acquire it later in life, and it is not caused by specific genetic mutations. For unknown reasons, in people with vitiligo the immune system appears to damage the melanocytes in the skin.
Question: What are the genetic changes related to ankylosing spondylitis ?

Answer: Ankylosing spondylitis is likely caused by a combination of genetic and environmental factors, most of which have not been identified. However, researchers have found variations in several genes that influence the risk of developing this disorder.  The HLA-B gene provides instructions for making a protein that plays an important role in the immune system. The HLA-B gene is part of 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). The HLA-B gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A variation of the HLA-B gene called HLA-B27 increases the risk of developing ankylosing spondylitis. Although many people with ankylosing spondylitis have the HLA-B27 variation, most people with this version of the HLA-B gene never develop the disorder. It is not known how HLA-B27 increases the risk of developing ankylosing spondylitis.  Variations in several additional genes, including ERAP1, IL1A, and IL23R, have also been associated with ankylosing spondylitis. Although these genes play critical roles in the immune system, it is unclear how variations in these genes affect a person's risk of developing ankylosing spondylitis. Changes in genes that have not yet been identified are also believed to affect the chances of developing ankylosing spondylitis and influence the progression of the disorder. Some of these genes likely play a role in the immune system, while others may have different functions. Researchers are working to identify these genes and clarify their role in ankylosing spondylitis.
Question: What are the symptoms of Madokoro Ohdo Sonoda syndrome ?

Answer: What are the signs and symptoms of Madokoro Ohdo Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the treatments for Acute febrile neutrophilic dermatosis ?

Answer: How might acute febrile neutrophilic dermatosis be treated?  Left untreated, acute febrile neutrophilic dermatosis not associated with a more serious condition may disappear on its own within one to three months. Medications can improve skin lesions and associated symptoms in just two or three days, with the worst of the lesions disappearing within one to four weeks. Doctors usually prescribe systemic corticosteroids (prednisone or prednisolone) to treat this condition. These oral anti-inflammatory medications reduce redness, itching, swelling and allergic reactions.  In the pediatric population, long-term use of corticosteroids can cause problems with linear growth, blood pressure, and blood glucose levels. Children may also have social sequelae associated with their use. Therefore, attempts are usually made to treat children with steroid-sparing drugs. Other treatment options include indomethacin, colchicine, potassium iodide, dapsone, cyclosporine, etretinate, pentoxifylline, clofazimine, doxycycline, metronidazole, isotretinoin, methotrexate, cyclophosphamide, chlorambucil, and interferon alpha, all of which have shown some success in the resolution of symtpoms.   With or without treatment, the lesions rarely leave a mark or scar when they eventually disappear. Even after the lesions have resolved, treatment may continue, as recurrence of the condition is common. If an underlying cause can be identified, it should be treated (i.e. resection of solid tumors, treatment of infections, and discontinuation of causative medication). Successful therapy of the underlying disorder may promote resolution of acute febrile neutrophilic dermatosis and prevent recurrences.
Question: What is (are) Melnick-Needles syndrome ?

Answer: Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and frontometaphyseal dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).  Melnick-Needles syndrome is usually the most severe of the otopalatodigital spectrum disorders. People with this condition are usually of short stature, have an abnormal curvature of the spine (scoliosis), partial dislocation (subluxation) of certain joints, and unusually long fingers and toes. They may have bowed limbs; underdeveloped, irregular ribs that can cause problems with breathing; and other abnormal or absent bones.  Characteristic facial features may include bulging eyes with prominent brow ridges, excess hair growth on the forehead, round cheeks, a very small lower jaw and chin (micrognathia), and misaligned teeth. One side of the face may appear noticeably different from the other (facial asymmetry). Some individuals with this disorder have hearing loss.  In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome may have obstruction of the ducts between the kidneys and bladder (ureters) or heart defects.  Males with Melnick-Needles syndrome generally have much more severe signs and symptoms than do females, and in almost all cases die before or soon after birth.
Question: What are the genetic changes related to boomerang dysplasia ?

Answer: Mutations in the FLNB gene cause boomerang dysplasia. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin to form the branching network of filaments that makes up the cytoskeleton. It also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development.  Filamin B is especially important in the development of the skeleton before birth. It is active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation) and maturation (differentiation) of chondrocytes and for the ossification of cartilage.  FLNB gene mutations that cause boomerang dysplasia change single protein building blocks (amino acids) in the filamin B protein or delete a small section of the protein sequence, resulting in an abnormal protein. This abnormal protein appears to have a new, atypical function that interferes with the proliferation or differentiation of chondrocytes, impairing ossification and leading to the signs and symptoms of boomerang dysplasia.
Question: What are the genetic changes related to congenital leptin deficiency ?

Answer: Congenital leptin deficiency is caused by mutations in the LEP gene. This gene provides instructions for making a hormone called leptin, which is involved in the regulation of body weight. Normally, the body's fat cells release leptin in proportion to their size. As fat accumulates in cells, more leptin is produced. This rise in leptin indicates that fat stores are increasing.  Leptin attaches (binds) to and activates a protein called the leptin receptor, fitting into the receptor like a key into a lock. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body including a part of the brain called the hypothalamus. The hypothalamus controls hunger and thirst as well as other functions such as sleep, moods, and body temperature. It also regulates the release of many hormones that have functions throughout the body. In the hypothalamus, the binding of leptin to its receptor triggers a series of chemical signals that affect hunger and help produce a feeling of fullness (satiety).  LEP gene mutations that cause congenital leptin deficiency lead to an absence of leptin. As a result, the signaling that triggers feelings of satiety does not occur, leading to the excessive hunger and weight gain associated with this disorder. Because hypogonadotropic hypogonadism occurs in congenital leptin deficiency, researchers suggest that leptin signaling is also involved in regulating the hormones that control sexual development. However, the specifics of this involvement and how it may be altered in congenital leptin deficiency are unknown.  Congenital leptin deficiency is a rare cause of obesity. Researchers are studying the factors involved in more common forms of obesity.
Question: What to do for Financial Help for Diabetes Care ?

Answer: - Diabetes management and treatment is expensive. Many people who have diabetes need help paying for their care. For those who qualify, a variety of government and nongovernment programs can help cover health care expenses.  - Health insurance helps pay for medical care, including the cost of diabetes care. Health insurance options include private health insurance and government health insurance.  - Insurance companies sell private health insurance plans. Two types of private health insurance are group health insurance and individual health insurance.  - Medicare is a federal health insurance program that pays health care costs for eligible people who are age 65 or older, under age 65 with certain disabilities, or of any age with end-stage renal disease.  - Medicaid is a state health insurance program for those with low incomes and few assets. Each state runs its own program.  - The Childrens Health Insurance Program (CHIP) gives free or low-cost Medicaid to children whose parents earn too much for Medicaid, though not enough to pay for a health plan.  - Many local governments have public health departments that can help people who need medical care. Local resources such as charitable groups may offer financial help for some expenses related to diabetes.  - People should talk with their health care providers if they have problems paying for diabetes medications. Less expensive generic medications for diabetes, blood pressure, and cholesterol are available. If a health care provider prescribes medications that a person cannot afford, the person should ask the health care provider about cheaper alternatives.  - Health care providers may also be able to assist people who need help paying for their medications and diabetes testing supplies, such as glucose test strips, by providing free samples or referring them to local programs. Drug companies that sell insulin or diabetes medications often have patient assistance programs.
Question: What is (are) What I need to know about Kidney Failure and How Its Treated ?

Answer: Peritoneal dialysis uses the lining of your belly to filter your blood inside your body. You can do peritoneal dialysis at home because it uses your body to filter. A doctor will place a soft tube called a catheter in your belly a few weeks before you start treatment. The catheter stays in your belly permanently.
                
The catheter lets you put a kind of salty water from a plastic bag into your belly. Then, you can move around and go about your day. While the salty water is inside your belly, it soaks up wastes and extra fluid from your body. After a few hours, you drain the salty water from your belly into a drain bag. The salty water removes wastes and extra fluid from your body. The salty water can be thrown away into a toilet or tub. Then you start over with a fresh bag of salty water. You will empty and fill your belly four to six times a day.
                
The salty water is always in your belly soaking up wastes and extra fluid. Peritoneal dialysis does not make the kidneys better. However, it may help you feel better by filtering your blood when your kidneys fail.
                

                
Is dialysis a cure for kidney failure?   No. Hemodialysis and peritoneal dialysis help you feel better and live longer; however, they do not cure kidney failure. Although people with kidney failure are now living longer than ever, over the years kidney disease can cause problems such as heart disease, bone disease, arthritis, nerve damage, infertility, and malnutrition. These problems wont go away with dialysis; however, doctors now have new and better ways to prevent or treat them. You should discuss these problems and their treatments with your doctor.