umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Joubert syndrome 2 ?

Answer: What are the signs and symptoms of Joubert syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome 2. 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 renal physiology - Abnormality of saccadic eye movements - Abnormality of the corpus callosum - Abnormality of the foot - Agenesis of cerebellar vermis - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Chorioretinal coloboma - Depressed nasal bridge - Dolichocephaly - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Encephalocele - Enlarged fossa interpeduncularis - Episodic tachypnea - Esotropia - Failure to thrive - Frontal bossing - Heterogeneous - High palate - Hydrocephalus - Hypertelorism - Hypoplasia of the brainstem - Hypoplastic male external genitalia - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Microphthalmia - Molar tooth sign on MRI - Muscular hypotonia - Neonatal breathing dysregulation - Nephronophthisis - Nystagmus - Oculomotor apraxia - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Renal cyst - Retinal dystrophy - Thickened superior cerebellar peduncle - Visual impairment - 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 is (are) Cough ?

Answer: A cough is a natural reflex that protects your lungs. Coughing helps clear your airways of lung irritants, such as smoke and mucus (a slimy substance). This helps prevent infections. A cough also can be a symptom of a medical problem.
                
Prolonged coughing can cause unpleasant side effects, such as chest pain, exhaustion, light-headedness, and loss of bladder control. Coughing also can interfere with sleep, socializing, and work.
                
Overview
                
Coughing occurs when the nerve endings in your airways become irritated. The airways are tubes that carry air into and out of your lungs. Certain substances (such as smoke and pollen), medical conditions, and medicines can irritate these nerve endings.
                
A cough can be acute, subacute, or chronic, depending on how long it lasts.
                
An acute cough lasts less than 3 weeks. Common causes of an acute cough are a common cold or other upper respiratory (RES-pi-rah-tor-e) infections. Examples of other upper respiratory infections include the flu, pneumonia (nu-MO-ne-ah), and whooping cough.
                
A subacute cough lasts 3 to 8 weeks. This type of cough remains even after a cold or other respiratory infection is over.
                
A chronic cough lasts more than 8 weeks. Common causes of a chronic cough are upper airway cough syndrome (UACS); asthma; and gastroesophageal (GAS-tro-eh-so-fa-JE-al) reflux disease, or GERD.
                
"UACS" is a term used to describe conditions that inflame the upper airways and cause a cough. Examples include sinus infections and allergies. These conditions can cause mucus to run down your throat from the back of your nose. This is called postnasal drip.
                
Asthma is a long-term lung disease that inflames and narrows the airways. GERD occurs if acid from your stomach backs up into your throat.
                
Outlook
                
The best way to treat a cough is to treat its cause. For example, asthma is treated with medicines that open the airways.
                
Your doctor may recommend cough medicine if the cause of your cough is unknown and the cough causes a lot of discomfort. Cough medicines may harm children. If your child has a cough, talk with his or her doctor about how to treat it.
Question: What are the genetic changes related to methylmalonic acidemia ?

Answer: Mutations in the MUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. The long term effects of methylmalonic acidemia depend on which gene is mutated and the severity of the mutation.  About 60 percent of methylmalonic acidemia cases are caused by mutations in the MUT gene. This gene provides instructions for making an enzyme called methylmalonyl CoA mutase. This enzyme works with vitamin B12 (also called cobalamin) to break down several protein building blocks (amino acids), certain lipids, and cholesterol. Mutations in the MUT gene alter the enzyme's structure or reduce the amount of the enzyme, which prevents these molecules from being broken down properly. As a result, a substance called methylmalonyl CoA and other potentially toxic compounds can accumulate in the body's organs and tissues, causing the signs and symptoms of methylmalonic acidemia.  Mutations in the MUT gene that prevent the production of any functional enzyme result in a form of the condition designated mut0. Mut0 is the most severe form of methylmalonic acidemia and has the poorest outcome. Mutations that change the structure of methylmalonyl CoA mutase but do not eliminate its activity cause a form of the condition designated mut-. The mut- form is typically less severe, with more variable symptoms than the mut0 form.  Some cases of methylmalonic acidemia are caused by mutations in the MMAA, MMAB, or MMADHC gene. Proteins produced from the MMAA, MMAB, and MMADHC genes are needed for the proper function of methylmalonyl CoA mutase. Mutations that affect proteins produced from these three genes can impair the activity of methylmalonyl CoA mutase, leading to methylmalonic acidemia.  A few other cases of methylmalonic acidemia are caused by mutations in the MCEE gene. This gene provides instructions for producing an enzyme called methylmalonyl CoA epimerase. Like methylmalonyl CoA mutase, this enzyme also plays a role in the breakdown of amino acids, certain lipids, and cholesterol. Disruption in the function of methylmalonyl CoA epimerase leads to a mild form of methylmalonic acidemia.  It is likely that mutations in other, unidentified genes also cause methylmalonic acidemia.
Question: What is (are) anhidrotic ectodermal dysplasia with immune deficiency ?

Answer: Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth.  Skin abnormalities in people with EDA-ID include areas that are dry, wrinkled, or darker in color than the surrounding skin. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). EDA-ID is also characterized by missing teeth (hypodontia) or teeth that are small and pointed. Most people with EDA-ID have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. An inability to sweat (anhidrosis) can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather.  The immune deficiency in EDA-ID varies among people with this condition. People with EDA-ID often produce abnormally low levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. A reduction in antibodies makes it difficult for people with this disorder to fight off infections. In EDA-ID, immune system cells called T cells and B cells have a decreased ability to recognize and respond to foreign invaders (such as bacteria, viruses, and yeast) that have sugar molecules attached to their surface (glycan antigens). Other key aspects of the immune system may also be impaired, leading to recurrent infections.  People with EDA-ID commonly get infections in the lungs (pneumonia), ears (otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and GI tract. Approximately one quarter of individuals with EDA-ID have disorders involving abnormal inflammation, such as inflammatory bowel disease or rheumatoid arthritis.  The life expectancy of affected individuals depends of the severity of the immune deficiency; most people with this condition do not live past childhood.  There are two forms of this condition that have similar signs and symptoms and are distinguished by the modes of inheritance: X-linked recessive or autosomal dominant.
Question: What is (are) antiphospholipid syndrome ?

Answer: Antiphospholipid syndrome is a disorder characterized by an increased tendency to form abnormal blood clots (thromboses) that can block blood vessels. This clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the thromboses can develop in nearly any blood vessel in the body, but most frequently occur in the vessels of the lower limbs. If a blood clot forms in the vessels in the brain, blood flow is impaired and can lead to stroke. Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs.  Women with antiphospholipid syndrome are at increased risk of complications during pregnancy. These complications include pregnancy-induced high blood pressure (preeclampsia), an underdeveloped placenta (placental insufficiency), early delivery, or pregnancy loss (miscarriage). In addition, women with antiphospholipid syndrome are at greater risk of having a thrombosis during pregnancy than at other times during their lives. At birth, infants of mothers with antiphospholipid syndrome may be small and underweight.  A thrombosis or pregnancy complication is typically the first sign of antiphospholipid syndrome. This condition usually appears in early to mid-adulthood but can begin at any age.  Other signs and symptoms of antiphospholipid syndrome that affect blood cells and vessels include a reduced amount of blood clotting cells called platelets (thrombocytopenia), a shortage of red blood cells (anemia) due to their premature breakdown (hemolysis), and a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. In addition, affected individuals may have open sores (ulcers) on the skin, migraine headaches, heart disease, or intellectual disability. Many people with antiphospholipid syndrome also have other autoimmune disorders such as systemic lupus erythematosus.  Rarely, people with antiphospholipid syndrome develop thromboses in multiple blood vessels throughout their body. These thromboses block blood flow in affected organs, which impairs their function and ultimately causes organ failure. These individuals are said to have catastrophic antiphospholipid syndrome (CAPS). CAPS typically affects the kidneys, lungs, brain, heart, and liver, and is fatal in over half of affected individuals. Less than 1 percent of individuals with antiphospholipid syndrome develop CAPS.
Question: What is (are) Schinzel-Giedion syndrome ?

Answer: Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood.  Children with Schinzel-Giedion syndrome can have a variety of distinctive features. In most affected individuals, the middle of the face looks as though it has been drawn inward (midface retraction). Other facial features include a large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, upturned nose; and a wide mouth with a large tongue (macroglossia). Affected individuals can have other distinctive features, including larger than normal gaps between the bones of the skull in infants (fontanelles), a short neck, ear malformations, an inability to secrete tears (alacrima), and excessive hairiness (hypertrichosis). Hypertrichosis often disappears in infancy.  Children with Schinzel-Giedion syndrome have severe developmental delay. Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment.  Affected individuals can also have abnormalities of organs such as the heart, kidneys, or genitals. Heart defects include problems with the heart valves, which control blood flow in the heart; the chambers of the heart that pump blood to the body (ventricles); or the dividing wall between the sides of the heart (the septum). Most children with Schinzel-Giedion syndrome have accumulation of urine in the kidneys (hydronephrosis), which can occur in one or both kidneys. Affected individuals can have genital abnormalities such as underdevelopment (hypoplasia) of the genitals. Affected boys may have the opening of the urethra on the underside of the penis (hypospadias).  Bone abnormalities are common in people with Schinzel-Giedion syndrome. The bones at the base of the skull are often abnormally hard or thick (sclerotic), or the joint between the bones at the base of the skull (occipital synchondrosis) can be abnormally wide. In addition, affected individuals may have broad ribs, abnormal collarbones (clavicles), or shortened bones at the ends of the fingers (hypoplastic distal phalanges).  Children with this condition who survive past infancy have a higher than normal risk of developing certain types of tumors called neuroepithelial tumors.
Question: what research (or clinical trials) is being done for Kidney Disease ?

Answer: Many areas of Research Researchers are working at every stage of kidney disease to improve diagnosis and treatment, including -  trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease  -  trying to find more effective medications to treat kidney disease and its risk factors, and   -  improving dialysis and the results of kidney transplantation. trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease trying to find more effective medications to treat kidney disease and its risk factors, and improving dialysis and the results of kidney transplantation. Several areas of research supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) hold great potential. Emphasis is being placed on research related to prevention and early intervention in kidney disease. Interaction With Other Diseases Another focus is on the interaction between kidney disease, diabetes, and cardiovascular (heart) disease. Advances in treatments for diabetes and high blood pressure may help reduce the damage these conditions do to the kidneys in the first place. Research into how to predict who will develop kidney disease may improve prevention. Disease Progression NIDDK is sponsoring a major study -- the Chronic Renal Insufficiency Cohort (CRIC) study -- to learn more about how kidney disease progresses. CRIC is following 6,000 adults with mild to moderate kidney disease. About half have diabetes. It is believed that some CRIC study participants' kidney function will decline more rapidly than others', and that some will develop cardiovascular disease while others won't. The goal of the study is to identify the factors linked to rapid decline of kidney function and the development of cardiovascular disease. The data and specimens collected from study participants will be available to other researchers who are studying kidney disease and cardiovascular disease. The CRIC study will allow future investigation into the role of genetic, environmental, behavioral, nutritional, and other factors in kidney disease.  Learn more about the CRIC Study.  Improving Transplants In the area of transplantation, researchers are working to develop new drugs that help the body accept donated organs. The goal is to help transplanted kidneys survive longer and work better. NIDDK scientists are also developing new techniques to improve the body's tolerance for foreign tissue even before the donated kidney is transplanted. This could help reduce or eliminate the need for drugs that suppress the immune system, which could reduce transplantation costs and complications. In the future, scientists may even develop an artificial kidney for implantation.
Question: What are the symptoms of Acrodermatitis enteropathica ?

Answer: What are the signs and symptoms of Acrodermatitis enteropathica? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodermatitis enteropathica. 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 blistering of the skin 90% Abnormality of the eyebrow 90% Alopecia 90% Cerebral cortical atrophy 90% Diarrhea 90% Dry skin 90% Malabsorption 90% Pustule 90% Short stature 90% Abnormality of the fingernails 50% Abnormality of the toenails 50% Cheilitis 50% Furrowed tongue 50% Glossitis 50% Inflammatory abnormality of the eye 50% Photophobia 50% Skin ulcer 50% Anorexia 7.5% Corneal erosion 7.5% Visual impairment 7.5% Weight loss 7.5% Alopecia of scalp - Ataxia - Autosomal recessive inheritance - Decreased taste sensation - Decreased testicular size - Decreased testosterone in males - Emotional lability - Failure to thrive - Hepatomegaly - Hypogonadism - Impaired T cell function - Infantile onset - Irritability - Lethargy - Low alkaline phosphatase - Paronychia - Poor appetite - Recurrent candida infections - Splenomegaly - Tremor - 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 research (or clinical trials) is being done for Deep Brain Stimulation for Parkinson's Disease ?

Answer: The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National institutes of Health (NIH), supports research on DBS to determine its safety, reliability, and effectiveness as a treatment for PD. NINDS supported research on brain circuitry was critical to the development of DBS.
                
Researchers are continuing to study DBS and to develop ways of improving it. A two-part study funded by the NINDS and the Department of Veterans Affairs first compared bilateral DBS to best medical therapy, including medication adjustment and physical therapy. Bilateral DBS showed overall superiority to best medical therapy at improving motor symptoms and quality of life. The second part of the study, involving nearly 300 patients, compared subthalamic nucleus (STN) DBS to globus pallidus interna (GPI) DBS. The two groups reported similar improvements in motor control and quality of life in scores on the Unified Parkinsons Disease Rating Scale. On a variety of neuropsychological tests, there were no significant differences between the two groups. However, the STN DBS group experienced a greater decline on a test of visuomotor processing speed, which measures how quickly someone thinks and acts on information. Also, the STN DBS group had slight worsening on a standard assessment of depression, while the GPI DBS group had slight improvement on the same test. The importance of these two differences is not clear, and will be scrutinized in follow-up research.
                
In addition, NINDS-supported researchers are developing and testing improved implantable pulse generators, and conducting studies to better understand the therapeutic effect of neurostimulation on neural circuitry and brain regions affected in PD. For more information about current studies on brain stimulation and Parkinsons disease, see www.clinicaltrials.gov and search for deep brain stimulation AND Parkinson AND NINDS. For information about NINDS-and NIH-supported research studies in this area, see the NIH RePORTER (Research Portfolio Online Reporting Tools) at http://projectreporter.nih.gov and search for deep brain stimulation AND Parkinson.
                
The Brain Initiative for Advancing Innovative Neurotechnologies (BRAIN) initiative, announced in 2013, offers unprecedented opportunities to unlock the mysteries of the brain and accelerate the development of research and technologies to treat disorders such as Parkinsons disease. For more information about the BRAIN initiative, see www.nih.gov/science/brain.