umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Sleep Deprivation and Deficiency ?

Answer: Sleep deficiency can cause you to feel very tired during the day. You may not feel refreshed and alert when you wake up. Sleep deficiency also can interfere with work, school, driving, and social functioning.
                
How sleepy you feel during the day can help you figure out whether you're having symptoms of problem sleepiness. You might be sleep deficient if you often feel like you could doze off while:
                
Sitting and reading or watching TV
                
Sitting still in a public place, such as a movie theater, meeting, or classroom
                
Riding in a car for an hour without stopping
                
Sitting and talking to someone
                
Sitting quietly after lunch
                
Sitting in traffic for a few minutes
                
Sleep deficiency can cause problems with learning, focusing, and reacting. You may have trouble making decisions, solving problems, remembering things, controlling your emotions and behavior, and coping with change. You may take longer to finish tasks, have a slower reaction time, and make more mistakes.
                
The signs and symptoms of sleep deficiency may differ between children and adults. Children who are sleep deficient might be overly active and have problems paying attention. They also might misbehave, and their school performance can suffer.
                
Sleep-deficient children may feel angry and impulsive, have mood swings, feel sad or depressed, or lack motivation.
                
You may not notice how sleep deficiency affects your daily routine. A common myth is that people can learn to get by on little sleep with no negative effects. However, research shows that getting enough quality sleep at the right times is vital for mental health, physical health, quality of life, and safety.
                
To find out whether you're sleep deficient, try keeping a sleep diary for a couple of weeks. Write down how much you sleep each night, how alert and rested you feel in the morning, and how sleepy you feel during the day.
                
Compare the amount of time you sleep each day with the average amount of sleep recommended for your age group, as shown in the chart in "How Much Sleep Is Enough?" If you often feel very sleepy, and efforts to increase your sleep don't help, talk with your doctor.
                
You can find a sample sleep diary in the National Heart, Lung, and Blood Institute's "Your Guide to Healthy Sleep."
Question: What are the treatments for arrhythmogenic right ventricular cardiomyopathy ?

Answer: These resources address the diagnosis or management of ARVC:  - Brigham and Women's Hospital  - Cleveland Clinic: How Are Arrhythmias Treated?  - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 1  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 10  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 12  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 2  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 3  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 4  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 5  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 6  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 7  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 8  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 9  - Genetic Testing Registry: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair  - St. Luke's-Roosevelt Hospital 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
Question: What are the genetic changes related to dopa-responsive dystonia ?

Answer: Mutations in the GCH1 gene are the most common cause of dopa-responsive dystonia. Less often, mutations in the TH or SPR gene cause this condition.  The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase. This enzyme is involved in the first of three steps in the production of a molecule called tetrahydrobiopterin (BH4). The SPR gene, which provides instructions for making the sepiapterin reductase enzyme, is involved in the last step of tetrahydrobiopterin production. Tetrahydrobiopterin helps process several protein building blocks (amino acids), and is involved in the production of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. Specifically, tetrahydrobiopterin is involved in the production of two neurotransmitters called dopamine and serotonin. Among their many functions, dopamine transmits signals within the brain to produce smooth physical movements, and serotonin regulates mood, emotion, sleep, and appetite.  The protein produced from the TH gene is also involved in dopamine production. The TH gene provides instructions for making the enzyme tyrosine hydroxylase, which helps convert the amino acid tyrosine to dopamine.  Mutations in the GCH1 or SPR gene impair the production of tetrahydrobiopterin, which leads to a decrease in the amount of available dopamine. TH gene mutations result in the production of a tyrosine hydroxylase enzyme with reduced function, which leads to a decrease in dopamine production. A reduction in the amount of dopamine interferes with the brain's ability to produce smooth physical movements, resulting in the dystonia, tremor, and other movement problems associated with dopa-responsive dystonia. Sleep and mood disorders also occur in some individuals with GCH1 or SPR gene mutations; these disorders likely result from a disruption in the production of serotonin. Problems with sleep and episodes of depression are not seen in people with dopa-responsive dystonia caused by TH gene mutations, which is sometimes referred to as Segawa syndrome.  Some people with dopa-responsive dystonia do not have an identified mutation in the GCH1, TH, or SPR gene. The cause of the condition in these individuals is unknown.
Question: What are the symptoms of Warfarin syndrome ?

Answer: What are the signs and symptoms of Warfarin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin 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 vertebral ossification 90% Anteverted nares 90% Depressed nasal bridge 90% Epiphyseal stippling 90% Short nose 90% Anonychia 50% Brachydactyly syndrome 50% Cognitive impairment 50% Intrauterine growth retardation 50% Respiratory insufficiency 50% Short distal phalanx of finger 50% Short neck 50% Abnormality of the outer ear 7.5% Abnormality of the tongue 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Cataract 7.5% Choanal atresia 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Muscular hypotonia 7.5% Myelomeningocele 7.5% Optic atrophy 7.5% Proptosis 7.5% Seizures 7.5% Visual impairment 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. 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 Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity ?

Answer: What are the signs and symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. 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% Cognitive impairment 90% Cryptorchidism 90% EEG abnormality 90% Hypoplasia of penis 90% Microcephaly 90% Obesity 90% Sloping forehead 90% Thick lower lip vermilion 90% Attention deficit hyperactivity disorder 50% Downturned corners of mouth 50% Full cheeks 50% Hyperreflexia 50% Hypertonia 50% Muscular hypotonia 50% Nystagmus 50% Reduced number of teeth 50% Seizures 50% Talipes 50% Tapered finger 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 Curry Jones syndrome ?

Answer: What are the signs and symptoms of Curry Jones syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Curry Jones 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) Finger syndactyly 90% Hypertelorism 90% Hypopigmented skin patches 90% Abnormality of thumb phalanx 50% Aplasia/Hypoplasia affecting the eye 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the skin 50% Cognitive impairment 50% Craniosynostosis 50% Facial asymmetry 50% Foot polydactyly 50% Hypertrichosis 50% Preaxial hand polydactyly 50% Toe syndactyly 50% Ventriculomegaly 50% Chorioretinal coloboma 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Optic nerve coloboma 7.5% Abnormality of the skin - Agenesis of corpus callosum - Anal stenosis - Blepharophimosis - Coloboma - Microphthalmia - Syndactyly - 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 Febrile Ulceronecrotic Mucha-Habermann disease ?

Answer: How is febrile ulceronecrotic Mucha-Habermann disease (FUMHD) treated? It is important that FUMHD is diagnosed and treated as soon as possible. While a number of treatments have been tried, it is hard to asses the benefit of the therapies because there are so few cases of FUMHD and among reported cases the treatment approach may vary. The case reports describe treatment with systemic steroids, methotrexate, antibiotics, dapsone, cyclosporine, psoralen and ultraviolet A (PUVA), ultraviolet B (UVB), unspecified ultraviolet receptor, acyclovir, immunoglobulins, and 4,4-diaminodiphenylsulphone (DDS). Again the efficacy of these therapies are not known.  Acyclovir was prescribed in cases where varicella was initially suspected. None of these cases turned out to be associated with herpes simplex or varicella-zoster virus infection. The benefit of acyclovir therapy in people with FUMHD is questionable. Systemic steroids have been commonly utilized among reported cases (27 of 40 cases), with only one report of a positive effect. Methotrexate has been used in 15 patients. It induced rapid remissions and was successful in cases that did not respond to other therapies. Still four patients died despite methotrexate theapy. It is possible this was due to its late institution. Debridement and skin grafting was successful in one case, but the patient was left with considerable scaring. In advanced disease, therapy is also aimed at stabilizing the patient. Intensive care treatment of infection and maintenance of the patients general condition is vital. The state of these patients is similar to what is seen in patients with severe burns. Thus, patients with FUMHD may benefit from the same supportive services that burn victims receive. Treatment with tumor necrosis factor (TNF)-alpha inhibitors (such as infliximab and etanercept) has been suggested as a first-line option in the management of FUMHD because elevated levels of serum TNF-alpha have been reported in this disease However, further studies may be required to establish this approach to treatment. More detailed information about treatment options for FUMHD can be accessed through the DermNet NZ web site.
Question: What is (are) Schwartz-Jampel syndrome ?

Answer: Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become apparent sometime after birth, usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. The muscle and bone abnormalities worsen in childhood, although most affected individuals have a normal lifespan. The specific features of Schwartz-Jampel syndrome vary widely.  Myotonia involves continuous tensing (contraction) of muscles used for movement (skeletal muscles) throughout the body. This sustained muscle contraction causes stiffness that interferes with eating, sitting, walking, and other movements. Sustained contraction of muscles in the face leads to a fixed, "mask-like" facial expression with narrow eye openings (blepharophimosis) and pursed lips. This facial appearance is very specific to Schwartz-Jampel syndrome. Affected individuals may also be nearsighted and experience abnormal blinking or spasms of the eyelids (blepharospasm).  Chondrodysplasia affects the development of the skeleton, particularly the long bones in the arms and legs and the bones of the hips. These bones are shortened and unusually wide at the ends, so affected individuals have short stature. The long bones may also be abnormally curved (bowed). Other bone abnormalities associated with Schwartz-Jampel syndrome include a protruding chest (pectus carinatum), abnormal curvature of the spine, flattened bones of the spine (platyspondyly), and joint abnormalities called contractures that further restrict movement.  Researchers originally described two types of Schwartz-Jampel syndrome. Type 1 has the signs and symptoms described above, while type 2 has more severe bone abnormalities and other health problems and is usually life-threatening in early infancy. Researchers have since discovered that the condition they thought was Schwartz-Jampel syndrome type 2 is actually part of another disorder, Stve-Wiedemann syndrome, which is caused by mutations in a different gene. They have recommended that the designation Schwartz-Jampel syndrome type 2 no longer be used.
Question: What is (are) otopalatodigital syndrome type 2 ?

Answer: Otopalatodigital syndrome type 2 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, frontometaphyseal dysplasia, and Melnick-Needles syndrome. 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). Otopalatodigital syndrome type 2 also tends to cause problems in other areas of the body, such as the brain and heart.  People with otopalatodigital syndrome type 2 have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; a broad, flat nose; and a very small lower jaw and chin (micrognathia). The base of the skull may be thickened. Some people with this disorder have hearing loss. Affected individuals are usually of short stature and may have abnormalities of the fingers and toes, such as unusual curvature of the fingers (camptodactyly) and shortened or absent thumbs and big toes. They may have bowed limbs; underdeveloped, irregular ribs that may cause problems with breathing; and other abnormal or absent bones. Some may be born with an opening in the roof of the mouth (a cleft palate).  In addition to skeletal abnormalities, individuals with otopalatodigital syndrome type 2 may have developmental delay, increased fluid in the center of the brain (hydrocephalus), protrusion of the abdominal organs through the navel (omphalocele), heart defects, chest abnormalities, obstruction of the ducts between the kidneys and bladder (ureters), and, in males, opening of the urethra on the underside of the penis (hypospadias).  Males with otopalatodigital syndrome type 2 generally have much more severe signs and symptoms than do females. Males with the disorder usually do not live beyond their first year, because their underdeveloped rib cage does not allow sufficient lung expansion for breathing.
Question: What are the genetic changes related to C3 glomerulopathy ?

Answer: C3 glomerulopathy is associated with changes in many genes. Most of these genes provide instructions for making proteins that help regulate a part of the body's immune response known as the complement system. This system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. The complement system must be carefully regulated so it targets only unwanted materials and does not damage the body's healthy cells.  A specific mutation in one of the complement system-related genes, CFHR5, has been found to cause C3 glomerulopathy in people from the Mediterranean island of Cyprus. Mutation in the C3 and CFH genes, as well as other complement system-related genes, have been found to cause the condition in other populations. The known mutations account for only a small percentage of all cases of C3 glomerulopathy. In most cases, the cause of the condition is unknown.  Several normal variants (polymorphisms) in complement system-related genes are associated with an increased likelihood of developing C3 glomerulopathy. In some cases, the increased risk is related to a group of specific variants in several genes, a combination known as a C3 glomerulopathy at-risk haplotype. While these polymorphisms increase the risk of C3 glomerulopathy, many people who inherit these genetic changes will never develop the condition.  The genetic changes related to C3 glomerulopathy "turn up," or increase the activation of, the complement system. The overactive system damages structures called glomeruli in the kidneys. These structures are clusters of tiny blood vessels that help filter waste products from the blood. Damage to glomeruli prevents the kidneys from filtering waste products normally and can lead to ESRD. Studies suggest that uncontrolled activation of the complement system also causes the other health problems that can occur with dense deposit disease, including acquired partial lipodystrophy and a buildup of drusen in the retina. Researchers are working to determine how these associated health problems are related to overactivity of the complement system.  Studies suggest that C3 glomerulopathy can also result from the presence of specialized proteins called autoantibodies. Autoantibodies cause the condition by altering the activity of proteins involved in regulating the complement system.