umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Leukoencephalopathy - dystonia - motor neuropathy ?

Answer: What are the signs and symptoms of Leukoencephalopathy - dystonia - motor neuropathy ? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy - dystonia - motor neuropathy . 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 motor neuron morphology - Abnormality of saccadic eye movements - Abnormality of thalamus morphology - Azoospermia - Head tremor - Hypergonadotropic hypogonadism - Hyposmia - Intention tremor - Leukoencephalopathy - Peripheral neuropathy - Torticollis - 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: Who is at risk for Pneumonia? ?

Answer: Pneumonia can affect people of all ages. However, two age groups are at greater risk of developing pneumonia:
                
Infants who are 2 years old or younger (because their immune systems are still developing during the first few years of life)
                
People who are 65 years old or older
                
Other conditions and factors also raise your risk for pneumonia. You're more likely to get pneumonia if you have a lung disease or other serious disease. Examples include cystic fibrosis, asthma, COPD (chronic obstructive pulmonary disease), bronchiectasis, diabetes, heart failure, and sickle cell anemia.
                
You're at greater risk for pneumonia if you're in a hospital intensive-care unit, especially if you're on a ventilator (a machine that helps you breathe).
                
Having a weak or suppressed immune system also raises your risk for pneumonia. A weak immune system may be the result of a disease such as HIV/AIDS. A suppressed immune system may be due to an organ transplant or blood and marrow stem cell transplant, chemotherapy (a treatment for cancer), or long-term steroid use.
                
Your risk for pneumonia also increases if you have trouble coughing because of a stroke or problems swallowing. You're also at higher risk if you can't move around much or are sedated (given medicine to make you relaxed or sleepy).
                
Smoking cigarettes, abusing alcohol, or being undernourished also raises your risk for pneumonia. Your risk also goes up if you've recently had a cold or the flu, or if you're exposed to certain chemicals, pollutants, or toxic fumes.
Question: What are the symptoms of Von Willebrand Disease ?

Answer: The signs and symptoms of von Willebrand disease (VWD) depend on which type of the disorder you have. They also depend on how serious the disorder is. Many people have such mild symptoms that they don't know they have VWD.
                
If you have type 1 or type 2 VWD, you may have the following mild-to-moderate bleeding symptoms:
                
Frequent, large bruises from minor bumps or injuries
                
Frequent or hard-to-stop nosebleeds
                
Prolonged bleeding from the gums after a dental procedure
                
Heavy or prolonged menstrual bleeding in women
                
Blood in your stools from bleeding in your intestines or stomach
                
Blood in your urine from bleeding in your kidneys or bladder
                
Heavy bleeding after a cut or other accident
                
Heavy bleeding after surgery
                
People who have type 3 VWD may have all of the symptoms listed above and severe bleeding episodes for no reason. These bleeding episodes can be fatal if not treated right away. People who have type 3 VWD also may have bleeding into soft tissues or joints, causing severe pain and swelling.
                
Heavy menstrual bleeding often is the main symptom of VWD in women. Doctors call this menorrhagia (men-o-RA-je-ah). They define it as:
                
Bleeding with clots larger than about 1-inch in diameter
                
Anemia (low red blood cell count) or low blood iron
                
The need to change pads or tampons more than every hour
                
However, just because a woman has heavy menstrual bleeding doesn't mean she has VWD.
Question: What are the genetic changes related to hereditary multiple osteochondromas ?

Answer: Mutations in the EXT1 and EXT2 genes cause hereditary multiple osteochondromas. The EXT1 gene and the EXT2 gene provide instructions for producing the proteins exostosin-1 and exostosin-2, respectively. The two exostosin proteins bind together and form a complex found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. In the Golgi apparatus, the exostosin-1 and exostosin-2 complex modifies a protein called heparan sulfate so it can be used by the cell.  When there is a mutation in exostosin-1 or exostosin-2, heparan sulfate cannot be processed correctly and is nonfunctional. Although heparan sulfate is involved in many bodily processes, it is unclear how the lack of this protein contributes to the development of osteochondromas.  If the condition is caused by a mutation in the EXT1 gene it is called hereditary multiple osteochondromas type 1. A mutation in the EXT2 gene causes hereditary multiple osteochondromas type 2. While both type 1 and type 2 involve multiple osteochondromas, mutations in the EXT1 gene likely account for 55 to 75 percent of all cases of hereditary multiple osteochondromas, and the severity of symptoms associated with osteochondromas seems to be greater in type 1.  Researchers estimate that about 15 percent of people with hereditary multiple osteochondromas have no mutation in either the EXT1 or the EXT2 gene. It is not known why multiple osteochondromas form in these individuals.
Question: What are the treatments for xeroderma pigmentosum ?

Answer: These resources address the diagnosis or management of xeroderma pigmentosum:  - American Cancer Society: How are Squamous and Basal Cell Skin Cancer Diagnosed?  - American Cancer Society: How is Melanoma Diagnosed?  - Gene Review: Gene Review: Xeroderma Pigmentosum  - Genetic Testing Registry: Xeroderma pigmentosum  - Genetic Testing Registry: Xeroderma pigmentosum, complementation group b  - Genetic Testing Registry: Xeroderma pigmentosum, group C  - Genetic Testing Registry: Xeroderma pigmentosum, group D  - Genetic Testing Registry: Xeroderma pigmentosum, group E  - Genetic Testing Registry: Xeroderma pigmentosum, group F  - Genetic Testing Registry: Xeroderma pigmentosum, group G  - Genetic Testing Registry: Xeroderma pigmentosum, type 1  - Genetic Testing Registry: Xeroderma pigmentosum, variant type  - MedlinePlus Encyclopedia: Xeroderma Pigmentosum  - National Cancer Institute: Melanoma Treatment  - National Cancer Institute: Skin Cancer Treatment  - Xeroderma Pigmentosum Society, Inc.: Beta Carotene  - Xeroderma Pigmentosum Society, Inc.: Ultraviolet Radiation and Protection   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 hereditary paraganglioma-pheochromocytoma ?

Answer: Mutations in at least four genes increase the risk of developing the different types of hereditary paraganglioma-pheochromocytoma. Mutations in the SDHD gene predispose an individual to hereditary paraganglioma-pheochromocytoma type 1; mutations in the SDHAF2 gene predispose to type 2; mutations in the SDHC gene predispose to type 3; and mutations in the SDHB gene predispose to type 4.  The SDHB, SDHC, and SDHD genes provide instructions for making three of the four subunits of an enzyme called succinate dehydrogenase (SDH). In addition, the protein made by the SDHAF2 gene is required for the SDH enzyme to function. The SDH enzyme links two important cellular pathways called the citric acid cycle (or Krebs cycle) and oxidative phosphorylation. These pathways are critical in converting the energy from food into a form that cells can use.  As part of the citric acid cycle, the SDH enzyme converts a compound called succinate to another compound called fumarate. Succinate acts as an oxygen sensor in the cell and can help turn on specific pathways that stimulate cells to grow in a low-oxygen environment (hypoxia).  Mutations in the SDHB, SDHC, SDHD, and SDHAF2 genes lead to the loss or reduction of SDH enzyme activity. Because the mutated SDH enzyme cannot convert succinate to fumarate, succinate accumulates in the cell. As a result, the hypoxia pathways are triggered in normal oxygen conditions, which lead to abnormal cell growth and tumor formation.
Question: What are the genetic changes related to Stve-Wiedemann syndrome ?

Answer: Stve-Wiedemann syndrome is usually caused by mutations in the LIFR gene. This gene provides instructions for making a protein called leukemia inhibitory factor receptor (LIFR). 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 LIFR protein acts as a receptor for a ligand known as leukemia inhibitory factor (LIF). LIFR signaling can control several cellular processes, including growth and division (proliferation), maturation (differentiation), and survival. First found to be important in blocking (inhibiting) growth of blood cancer (leukemia) cells, this signaling is also involved in the formation of bone and the development of nerve cells. It appears to play an important role in normal development and functioning of the autonomic nervous system.  Most LIFR gene mutations that cause Stve-Wiedemann syndrome prevent production of any LIFR protein. Other mutations lead to production of an altered protein that likely cannot function. Without functional LIFR, signaling is impaired. The lack of LIFR signaling disrupts normal bone formation, leading to osteopenia, bowed legs, and other skeletal problems common in Stve-Wiedemann syndrome. In addition, development of nerve cells, particularly those involved in the autonomic nervous system, is abnormal, leading to the problems with breathing, feeding, and regulating body temperature characteristic of this condition.  A small number of people with Stve-Wiedemann syndrome do not have an identified mutation in the LIFR gene. Researchers suggest that other genes that have not been identified may be involved in this condition.
Question: What is (are) familial cylindromatosis ?

Answer: Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive from sweat glands, cylindromas are now generally believed to begin in hair follicles.  Individuals with familial cylindromatosis occasionally develop other types of tumors, including growths called spiradenomas and trichoepitheliomas. Spiradenomas begin in sweat glands. Trichoepitheliomas arise from hair follicles. The tumors associated with familial cylindromatosis are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands.  People with familial cylindromatosis typically begin developing tumors in adolescence or early adulthood. The tumors are most often found in hairy regions of the body, with approximately 90 percent occurring on the head and neck. They grow larger and increase in number over time.  In severely affected individuals, multiple tumors on the scalp may combine into a large, turban-like growth. Large growths frequently develop open sores (ulcers) and are prone to infections. The tumors may also get in the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The growths can be disfiguring and may contribute to depression or other psychological problems. For reasons that are unclear, females with familial cylindromatosis are often more severely affected than males.
Question: How to diagnose Goodpasture Syndrome ?

Answer: A health care provider may order the following tests to diagnose Goodpasture syndrome:
                
- Urinalysis. Urinalysis is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when protein or blood are present in urine. A high number of red blood cells and high levels of protein in the urine indicate kidney damage.  - Blood test. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. The blood test can show the presence of anti-GBM antibodies.  - Chest x ray. An x ray of the chest is performed in a health care providers office, outpatient center, or hospital by an x-ray technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Abnormalities in the lungs, if present, can be seen on the x ray.  - Biopsy. A biopsy is a procedure that involves taking a piece of kidney tissue for examination with a microscope. The biopsy is performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the kidney. The tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. The test can show crescent-shaped changes in the glomeruli and lines of antibodies attached to the GBM.
Question: What are the treatments for Shingles ?

Answer: If You Suspect Shingles  If you suspect you have shingles, see your healthcare provider within 72 hours of the first sign of the rash.Treatment with antiviral medications can reduce the severity of the nerve damage and speed healing. But to be effective, they must be started as soon as possible after the rash appears. (Watch the video to learn more about shingles treatments. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Antivirals and Other Treatments At the early stage of shingles, a healthcare provider will usually prescribe antiviral pills. These antiviral medicines include acyclovir, valacyclovir, or famcyclovir, Your healthcare provider, may also prescribe drugs to relieve pain. Wet compresses, calamine lotion, and colloidal oatmeal baths may help relieve some of the itching. Patients with long-term pain may also be treated with numbing patches, tricyclic antidepressants, and gabapentin, an anti-seizure medication. While these treatments can reduce the symptoms of shingles, they are not a cure. The antivirals do weaken the virus and its effects, but the outbreak still tends to run its course. Good hygiene, including daily bathing, can help prevent bacterial infections. It is a good idea to keep fingernails clean and well-trimmed to reduce scratching. Shingles Vaccine The shingles vaccine is NOT recommended if you have active shingles or pain that continues after the rash is gone. To learn more about the shingles vaccine, see the chapter on "Prevention."
Question: What is (are) Ovarian Germ Cell Tumors ?

Answer: Key Points
                    - Ovarian germ cell tumor is a disease in which malignant (cancer) cells form in the germ (egg) cells of the ovary.     - Signs of ovarian germ cell tumor are swelling of the abdomen or vaginal bleeding after menopause.     - Tests that examine the ovaries, pelvic area, blood, and ovarian tissue are used to detect (find) and diagnose ovarian germ cell tumor.     - Certain factors affect prognosis (chance of recovery and treatment options).
                
                
                    Ovarian germ cell tumor is a disease in which malignant (cancer) cells form in the germ (egg) cells of the ovary.
                    Germ cell tumors begin in the reproductive cells (egg or sperm) of the body. Ovarian germ cell tumors usually occur in teenage girls or young women and most often affect just one ovary.    The ovaries are a pair of organs in the female reproductive system. They are in the pelvis, one on each side of the uterus (the hollow, pear-shaped organ where a fetus grows). Each ovary is about the size and shape of an almond. The ovaries make eggs and female hormones.      Ovarian germ cell tumor is a general name that is used to describe several different types of cancer. The most common ovarian germ cell tumor is called dysgerminoma. See the following PDQ summaries for information about other types of ovarian tumors:          -  Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer Treatment     -  Ovarian Low Malignant Potential Tumors Treatment
Question: What are the symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification ?

Answer: What are the signs and symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification. 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) Autosomal recessive inheritance - Cerebral berry aneurysm - Cirrhosis - Emphysema - Hepatic failure - Nonarteriosclerotic cerebral calcification - Portal hypertension - Seizures - Short stature - 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 Ocular cicatricial pemphigoid ?

Answer: What are the signs and symptoms of Ocular cicatricial pemphigoid? The Human Phenotype Ontology provides the following list of signs and symptoms for Ocular cicatricial pemphigoid. 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% Autoimmunity 90% Inflammatory abnormality of the eye 90% Abnormality of reproductive system physiology 50% Atypical scarring of skin 50% Gingivitis 50% Opacification of the corneal stroma 7.5% Visual impairment 7.5% Abnormality of the eye - Autosomal dominant inheritance - 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) Fetal cystic hygroma ?

Answer: Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can progress to hydrops (an excess amount of fluid in the body) and eventually lead to fetal death. Some cases resolve leading to webbed neck, edema (swelling), and a lymphangioma (a benign yellowish-tan tumor on the skin composed of swollen lymph vessels). In other instances, the hygroma can progress in size to become larger than the fetus. Cystic hygromas can be classified as septated (multiloculated) or nonseptated (simple). Cystic hygromas can occur as an isolated finding or in association with other birth defects as part of a syndrome (chromosomal abnormalities or syndromes caused by gene mutations). They may result from environmental factors (maternal virus infection or alcohol abuse during pregnancy), genetic factors, or unknown factors. The majority of prenatally diagnosed cystic hygromas are associated with Turner syndrome or other chromosomal abnormalities like trisomy 21. Isolated cystic hygroma can be inherited as an autosomal recessive disorder. Fetal cystic hygroma have being treated with OK-432, a lyophilized mixture of Group A Streptococcus pyogenes and benzyl penicillin, and with serial thoracocentesis plus paracentesis.