umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ?

Answer: What are the signs and symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. 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) Cataract 5% Adult onset - Areflexia - Atrophy/Degeneration involving the spinal cord - Autosomal recessive inheritance - Cognitive impairment - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Dilated cardiomyopathy - Dysarthria - Gastroparesis - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased serum lactate - Increased variability in muscle fiber diameter - Intestinal pseudo-obstruction - Migraine - Mildly elevated creatine phosphokinase - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Myoclonus - Nystagmus - Phenotypic variability - Positive Romberg sign - Progressive external ophthalmoplegia - Progressive gait ataxia - Proximal muscle weakness - Ptosis - Ragged-red muscle fibers - Seizures - Sensorineural hearing impairment - Sensory ataxic neuropathy - Sensory axonal neuropathy - Subsarcolemmal accumulations of abnormally shaped mitochondria - Vestibular dysfunction - 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 Spondylometaphyseal dysplasia with dentinogenesis imperfecta ?

Answer: What are the signs and symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with dentinogenesis imperfecta. 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) Brachydactyly syndrome 90% Joint hypermobility 90% Micromelia 90% Narrow chest 90% Platyspondyly 90% Short stature 90% Delayed eruption of teeth 50% Scoliosis 50% Depressed nasal bridge 7.5% Frontal bossing 7.5% Patent ductus arteriosus 7.5% Short nose 7.5% Strabismus 7.5% Autosomal dominant inheritance - Biconvex vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Coronal cleft vertebrae - Delayed ossification of carpal bones - Dentinogenesis imperfecta - Flared iliac wings - Flat acetabular roof - Genu recurvatum - Genu varum - Irregular epiphyses - Long philtrum - Mesomelia - Metaphyseal cupping - Metaphyseal widening - Motor delay - Narrow face - Osteoporosis - Pectus carinatum - Prominent forehead - Respiratory distress - Short long bone - Short metacarpal - Short phalanx of finger - Small epiphyses - Spondylometaphyseal dysplasia - 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 Broken Heart Syndrome ?

Answer: Even though broken heart syndrome may feel like a heart attack, its a very different problem that needs a different type of treatment.
                
The good news is that broken heart syndrome is usually treatable, and most people make a full recovery. Most people who experience broken heart syndrome stay in the hospital for a few days to a week.
                
Initial treatment is aimed at improving blood flow to the heart, and may be similar to that for a heart attack until the diagnosis is clear. Further treatment can include medicines and lifestyle changes.
                
Medicines
                
Doctors may prescribe medicines to relieve fluid buildup, treat blood pressure problems, prevent blood clots, and manage stress hormones. Medicines are often discontinued once heart function has returned to normal.
                
Your doctor may prescribe the following medicines:
                
ACE inhibitors (or angiotensin-converting enzyme inhibitors), to lower blood pressure and reduce strain on your heart
                
Beta blockers, to slow your heart rate and lower your blood pressure to decrease your hearts workload
                
Diuretics (water or fluid pills), to help reduce fluid buildup in your lungs and swelling in your feet and ankles
                
Anti-anxiety medicines, to help manage stress hormones
                
Take all of your medicines as prescribed. If you have side effects or other problems related to your medicines, tell your doctor. He or she may be able to provide other options.
                
Treatment of Complications
                
Broken heart syndrome can be life threatening in some cases. Because the syndrome involves severe heart muscle weakness, patients can experience shock, heart failure, low blood pressure, and potentially life-threatening heart rhythm abnormalities.
                
The good news is that this condition improves very quickly, so with proper diagnosis and management, even the most critically ill tend to make a quick and complete recovery.
                
Lifestyle Changes
                
To stay healthy, its important to find ways to reduce stress and cope with particularly upsetting situations. Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health.
                
Having supportive people in your life with whom you can share your feelings or concerns can help relieve stress. Physical activity, medicine, and relaxation therapy also can help relieve stress. You may want to consider taking part in a stress management program.
                
Treatments Not Helpful for Broken Heart Syndrome
                
Several procedures used to treat a heart attack are not helpful in treating broken heart syndrome. These procedurespercutaneous coronary intervention (sometimes referred to as angioplasty), stent placement, and surgerytreat blocked arteries, which is not the cause of broken heart syndrome.
Question: What is (are) Congenital Myasthenia ?

Answer: All forms of myasthenia are due to problems in the communication between nerve cells and muscles. Most involve the activities of neurotransmitters. Neurotransmitters are chemicals that allow neurons to relay information from one cell to the next. For neurotransmitters to be effective, the nerve cell must release the neurotransmitter properly, and the muscle cell must be able to detect the neurotransmitter and respond to its signal properly.
                
The most common type of myasthenia, myasthenia gravis, is caused by an abnormal immune response in which antibodies block the ability of the muscle to detect the neurotransmitter. Congenital myasthenia, however, differs from myasthenia gravis because the disrupted communication isn't caused by antibodies, but by genetic defects.
                
There are several different subtypes of congenital myasthenia, each the result of a specific genetic mutation. Since all types of myasthenia are due to the inability of nerves to trigger muscle activity, they all involve weakness, although there is some variability in the specific muscles affected.
                
Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, occasionally remaining unrecognized until adulthood. If the symptoms begin in infancy, they usually appear as "floppiness" and a failure to meet developmental milestones, such as rolling over or sitting up. Some infants may also have episodes of choking or pauses in breathing. If the symptoms begin in toddlers or preschool children, they appear as weakness during physical activities or an inability to perform age-appropriate actions, such as running or climbing. In addition, if eye muscles are involved, children may have droopy eyelids, "lazy eye," or double vision. If mouth or throat muscles are involved, children may have difficulty speaking or swallowing. An important characteristic of myasthenia is that the weakness worsens during continuous activity, with strength returning, at least partially, after resting.
                
Congenital myasthenia is an inherited (genetic) disorder. All but one known subtype are recessive disorders, which means that a child will have to have two copies of the abnormal gene (one from each parent) in order to develop the disease. To diagnose congenital myasthenia, a neurologist will test various muscles to determine if they grow weaker with repeated activity. The doctor will also test the electrical activity of nerves and muscles using electromyography (EMG) and nerve conduction tests (NCS). Blood tests are often used to determine if antibodies could be causing the symptoms. Genetic tests may be ordered.
Question: What are the genetic changes related to mitochondrial complex III deficiency ?

Answer: Mitochondrial complex III deficiency can be caused by mutations in one of several genes. The proteins produced from these genes either are a part of or help assemble a group of proteins called complex III. The two most commonly mutated genes involved in mitochondrial complex III deficiency are MT-CYB and BCS1L. It is likely that genes that have not been identified are also involved in this condition.  Cytochrome b, produced from the MT-CYB gene, is one component of complex III, and the protein produced from the BCS1L gene is critical for the formation of the complex. Complex III is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex III is one of several complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy. As a byproduct of its action in oxidative phosphorylation, complex III produces reactive oxygen species, which are harmful molecules that can damage DNA and tissues.  MT-CYB and BCS1L gene mutations impair the formation of complex III molecules. As a result, complex III activity and oxidative phosphorylation are reduced. Researchers believe that impaired oxidative phosphorylation can lead to cell death by reducing the amount of energy available in the cell. It is thought that tissues and organs that require a lot of energy, such as the brain, liver, kidneys, and skeletal muscles, are most affected by a reduction in oxidative phosphorylation. In addition, for unknown reasons, BCS1L gene mutations lead to increased overall production of reactive oxygen species, although production by complex III is reduced. Damage from reduced energy and from reactive oxygen species likely contributes to the signs and symptoms of mitochondrial complex III deficiency.  Unlike most genes, the MT-CYB gene is found in DNA located in mitochondria, called mitochondrial DNA (mtDNA). This location may help explain why some people have more severe features of the condition than others. Most of the body's cells contain thousands of mitochondria, each with one or more copies of mtDNA. These cells can have a mix of mitochondria containing mutated and unmutated DNA (heteroplasmy). When caused by MT-CYB gene mutations, the severity of mitochondrial complex III deficiency is thought to be associated with the percentage of mitochondria with the gene mutation. The other genes known to be involved in this condition are found in DNA packaged in chromosomes within the cell nucleus (nuclear DNA). It is not clear why the severity of the condition varies in people with mutations in these other genes.
Question: What are the genetic changes related to hypercholesterolemia ?

Answer: Mutations in the APOB, LDLR, LDLRAP1, and PCSK9 genes cause hypercholesterolemia.  High blood cholesterol levels typically result from a combination of genetic and environmental risk factors. Lifestyle choices including diet, exercise, and tobacco smoking strongly influence the amount of cholesterol in the blood. Additional factors that impact cholesterol levels include a person's gender, age, and health problems such as diabetes and obesity. A small percentage of all people with high cholesterol have an inherited form of hypercholesterolemia. The most common cause of inherited high cholesterol is a condition known as familial hypercholesterolemia, which results from mutations in the LDLR gene.  The LDLR gene provides instructions for making a protein called a low-density lipoprotein receptor. This type of receptor binds to particles called low-density lipoproteins (LDLs), which are the primary carriers of cholesterol in the blood. By removing low-density lipoproteins from the bloodstream, these receptors play a critical role in regulating cholesterol levels. Some LDLR mutations reduce the number of low-density lipoprotein receptors produced within cells. Other mutations disrupt the receptors' ability to remove low-density lipoproteins from the bloodstream. As a result, people with mutations in the LDLR gene have very high levels of blood cholesterol. As the excess cholesterol circulates through the bloodstream, it is deposited abnormally in tissues such as the skin, tendons, and arteries that supply blood to the heart.  Less commonly, hypercholesterolemia can be caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. Changes in the APOB gene result in a form of inherited hypercholesterolemia known as familial defective apolipoprotein B-100 (FDB). LDLRAP1 mutations are responsible for another type of inherited high cholesterol, autosomal recessive hypercholesterolemia (ARH). Proteins produced from the APOB, LDLRAP1, and PCSK9 genes are essential for the normal function of low-density lipoprotein receptors. Mutations in any of these genes prevent the cell from making functional receptors or alter the receptors' function. Hypercholesterolemia results when low-density lipoprotein receptors are unable to remove cholesterol from the blood effectively.  Researchers are working to identify and characterize additional genes that may influence cholesterol levels and the risk of heart disease in people with hypercholesterolemia.
Question: What is (are) DOORS syndrome ?

Answer: DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features.  Most people with DOORS syndrome have profound hearing loss caused by changes in the inner ears (sensorineural deafness). Developmental delay and intellectual disability are also often severe in this disorder.  The nail abnormalities affect both the hands and the feet in DOORS syndrome. Impaired growth of the bones at the tips of the fingers and toes (hypoplastic terminal phalanges) account for the short fingers and toes characteristic of this disorder. Some affected individuals also have an extra bone and joint in their thumbs, causing the thumbs to look more like the other fingers (triphalangeal thumbs).  The seizures that occur in people with DOORS syndrome usually start in infancy. The most common seizures in people with this condition are generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also have other types of seizures, including partial seizures, which affect only one area of the brain and do not cause a loss of consciousness; absence seizures, which cause loss of consciousness for a short period that appears as a staring spell; or myoclonic seizures, which cause rapid, uncontrolled muscle jerks. In some affected individuals the seizures increase in frequency and become more severe and difficult to control, and a potentially life-threatening prolonged seizure (status epilepticus) can occur.  Other features that can occur in people with DOORS syndrome include an unusually small head size (microcephaly) and facial differences, most commonly a wide, bulbous nose. A narrow or high arched roof of the mouth (palate), broadening of the ridges in the upper and lower jaw that contain the sockets of the teeth (alveolar ridges), or shortening of the membrane between the floor of the mouth and the tongue (frenulum) have also been observed in some affected individuals. People with DOORS syndrome may also have dental abnormalities, structural abnormalities of the heart or urinary tract, and abnormally low levels of thyroid hormones (hypothyroidism). Most affected individuals also have higher-than-normal levels of a substance called 2-oxoglutaric acid in their urine; these levels can fluctuate between normal and elevated.
Question: What is (are) Vulvar Cancer ?

Answer: Key Points
                    - Vulvar cancer is a rare disease in which malignant (cancer) cells form in the tissues of the vulva.    - Having vulvar intraepithelial neoplasia or HPV infection can affect the risk of vulvar cancer.    - Signs of vulvar cancer include bleeding or itching.    - Tests that examine the vulva are used to detect (find) and diagnose vulvar cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Vulvar cancer is a rare disease in which malignant (cancer) cells form in the tissues of the vulva.
                    Vulvar cancer forms in a woman's external genitalia. The vulva includes:         - Inner and outer lips of the vagina.    - Clitoris (sensitive tissue between the lips).     - Opening of the vagina and its glands.    - Mons pubis (the rounded area in front of the pubic bones that becomes covered with hair at puberty).    -  Perineum (the area between the vulva and the anus).         Vulvar cancer most often affects the outer vaginal lips. Less often, cancer affects the inner vaginal lips, clitoris, or vaginal glands.    Vulvar cancer usually forms slowly over a number of years. Abnormal cells can grow on the surface of the vulvar skin for a long time. This condition is called vulvar intraepithelial neoplasia (VIN). Because it is possible for VIN to become vulvar cancer, it is very important to get treatment.
                
                
                    Having vulvar intraepithelial neoplasia or HPV infection can affect the risk of vulvar cancer.
                    Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for vulvar cancer include the following:         - Having vulvar intraepithelial neoplasia (VIN).    - Having human papillomavirus (HPV) infection.    - Having a history of genital warts.        Other possible risk factors include the following:         - Having many sexual partners.    - Having first sexual intercourse at a young age.    - Having a history of abnormal Pap tests (Pap smears).
                          
                
							            Recurrent Vulvar Cancer
							            Recurrent vulvar cancer is cancer that has recurred (come back) after it has been treated. The cancer may come back in the vulva or in other parts of the body.
Question: How to diagnose Prostate Cancer ?

Answer: Tests that examine the prostate and blood are used to detect (find) and diagnose prostate cancer. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.    -   Digital rectal exam (DRE): An exam of the rectum. The doctor or nurse inserts a lubricated, gloved finger into the rectum and feels the prostate through the rectal wall for lumps or abnormal areas.     -   Prostate-specific antigen (PSA) test : A test that measures the level of PSA in the blood. PSA is a substance made by the prostate that may be found in an increased amount in the blood of men who have prostate cancer. PSA levels may also be high in men who have an infection or inflammation of the prostate or BPH (an enlarged, but noncancerous, prostate).    -   Transrectal ultrasound : A procedure in which a probe that is about the size of a finger is inserted into the rectum to check the prostate. The probe is used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. Transrectal ultrasound may be used during a biopsy procedure.    -  Transrectal magnetic resonance imaging (MRI): A procedure that uses a strong magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. A probe that gives off radio waves is inserted into the rectum near the prostate. This helps the MRI machine make clearer pictures of the prostate and nearby tissue. A transrectal MRI is done to find out if the cancer has spread outside the prostate into nearby tissues. This procedure is also called nuclear magnetic resonance imaging (NMRI).    -  Biopsy: The removal of cells or tissues so they can be viewed under a microscope by a pathologist. The pathologist will check the tissue sample to see if there are cancer cells and find out the Gleason score. The Gleason score ranges from 2-10 and describes how likely it is that a tumor will spread. The lower the number, the less likely the tumor is to spread.  A transrectal biopsy is used to diagnose prostate cancer. A transrectal biopsy is the removal of tissue from the prostate by inserting a thin needle through the rectum and into the prostate. This procedure is usually done using transrectal ultrasound to help guide where samples of tissue are taken from. A pathologist views the tissue under a microscope to look for cancer cells.