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

Answer: What are the signs and symptoms of Kosztolanyi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kosztolanyi 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 palate 90% Abnormality of the ribs 90% Anteverted nares 90% Arachnodactyly 90% Cognitive impairment 90% Decreased skull ossification 90% Frontal bossing 90% Hyperextensible skin 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Joint hypermobility 90% Laryngomalacia 90% Macrotia 90% Pectus excavatum 90% Prominent metopic ridge 90% Proptosis 90% Respiratory insufficiency 90% Short nose 90% Strabismus 90% Talipes 90% Umbilical hernia 90% Upslanted palpebral fissure 90% 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 X-linked Charcot-Marie-Tooth disease type 4 ?

Answer: What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 4. 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) Decreased nerve conduction velocity 90% Muscle weakness 90% Pes cavus 90% Skeletal muscle atrophy 90% Cognitive impairment 50% Hearing impairment 50% Impaired pain sensation 50% Kyphosis 50% Scoliosis 50% Gait disturbance 7.5% Incoordination 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Sensorineural hearing impairment 5% Elevated serum creatine phosphokinase - Intellectual disability - Motor axonal neuropathy - Sensory neuropathy - X-linked recessive 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 are the symptoms of Cockayne syndrome type III ?

Answer: What are the signs and symptoms of Cockayne syndrome type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type III. 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 auditory evoked potentials - Abnormal CNS myelination - Abnormal peripheral myelination - Abnormality of skin pigmentation - Abnormality of the pinna - Abnormality of visual evoked potentials - Atherosclerosis - Atypical scarring of skin - Autosomal recessive inheritance - Cerebral calcification - Cutaneous photosensitivity - Dementia - Dermal atrophy - Flexion contracture - Gait disturbance - Glomerulosclerosis - Hearing impairment - Hypertension - Intellectual disability - Large hands - Long foot - Mandibular prognathia - Microcephaly - Normal pressure hydrocephalus - Optic atrophy - Prematurely aged appearance - Proteinuria - Retinal degeneration - Retinal pigment epithelial mottling - Severe short stature - Thymic hormone decreased - 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 Imperforate oropharynx-costo vetebral anomalies ?

Answer: What are the signs and symptoms of Imperforate oropharynx-costo vetebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Imperforate oropharynx-costo vetebral anomalies. 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 pharynx 90% Abnormality of the ribs 90% Low-set, posteriorly rotated ears 90% Recurrent respiratory infections 90% Respiratory insufficiency 90% Vertebral segmentation defect 90% Abnormality of the antitragus 50% Aplasia/Hypoplasia of the tongue 50% Arachnodactyly 50% Choanal atresia 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Joint hypermobility 50% Overfolded helix 50% Polyhydramnios 50% Premature birth 50% Wide nasal bridge 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 genetic changes related to xeroderma pigmentosum ?

Answer: Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals such as those found in cigarette smoke. Normal cells are usually able to fix DNA damage before it causes problems. However, in people with xeroderma pigmentosum, DNA damage is not repaired normally. As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die.  Many of the genes related to xeroderma pigmentosum are part of a DNA-repair process known as nucleotide excision repair (NER). The proteins produced from these genes play a variety of roles in this process. They recognize DNA damage, unwind regions of DNA where the damage has occurred, snip out (excise) the abnormal sections, and replace the damaged areas with the correct DNA. Inherited abnormalities in the NER-related genes prevent cells from carrying out one or more of these steps. The POLH gene also plays a role in protecting cells from UV-induced DNA damage, although it is not involved in NER; mutations in this gene cause the variant type of xeroderma pigmentosum.  The major features of xeroderma pigmentosum result from a buildup of unrepaired DNA damage. When UV rays damage genes that control cell growth and division, cells can either die or grow too fast and in an uncontrolled way. Unregulated cell growth can lead to the development of cancerous tumors. Neurological abnormalities are also thought to result from an accumulation of DNA damage, although the brain is not exposed to UV rays. Researchers suspect that other factors damage DNA in nerve cells. It is unclear why some people with xeroderma pigmentosum develop neurological abnormalities and others do not.  Inherited mutations in at least eight genes have been found to cause xeroderma pigmentosum. More than half of all cases in the United States result from mutations in the XPC, ERCC2, or POLH genes. Mutations in the other genes generally account for a smaller percentage of cases.
Question: What are the genetic changes related to Hashimoto thyroiditis ?

Answer: Hashimoto thyroiditis is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown.  Hashimoto thyroiditis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with Hashimoto thyroiditis, white blood cells called lymphocytes accumulate abnormally in the thyroid, which can damage it. The lymphocytes make immune system proteins called antibodies that attack and destroy thyroid cells. When too many thyroid cells become damaged or die, the thyroid can no longer make enough hormones to regulate body functions. This shortage of thyroid hormones underlies the signs and symptoms of Hashimoto thyroiditis. However, some people with thyroid antibodies never develop hypothyroidism or experience any related signs or symptoms.  People with Hashimoto thyroiditis have an increased risk of developing other autoimmune disorders, including vitiligo, rheumatoid arthritis, Addison disease, type 1 diabetes, multiple sclerosis, and pernicious anemia.  Variations in several genes have been studied as possible risk factors for Hashimoto thyroiditis. Some of these genes are part of a family 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). Other genes that have been associated with Hashimoto thyroiditis help regulate the immune system or are involved in normal thyroid function. Most of the genetic variations that have been discovered are thought to have a small impact on a person's overall risk of developing this condition.  Other, nongenetic factors also play a role in Hashimoto thyroiditis. These factors may trigger the condition in people who are at risk, although the mechanism is unclear. Potential triggers include changes in sex hormones (particularly in women), viral infections, certain medications, exposure to ionizing radiation, and excess consumption of iodine (a substance involved in thyroid hormone production).
Question: What to do for Nutrition for Advanced Chronic Kidney Disease in Adults ?

Answer: - A person may prevent or delay some health problems from chronic kidney disease (CKD) by eating the right foods and avoiding foods high in sodium, potassium, and phosphorus.  - The kidneys remove wastes and extra water from the blood and make urine.  - Medical nutrition therapy (MNT) is the use of counseling by a registered dietitian to help promote a medical or health goal.  - Dietitians who specialize in helping people with CKD are called renal dietitians.  - People with advanced CKD often lose their appetites and consume fewer caloriesimportant units of energy in foodand may lose too much weight.  - Eating more protein than the body needs may put an extra burden on the kidneys and cause kidney function to decline faster. Most peoplewith or without CKDcan get the daily protein they need by eating two 3-ounce servings of meat or meat substitute.  - People with CKD are at higher risk of having a heart attack or stroke.  - Everyone needs dietary fat, but some fats are healthier than others.  - Too much sodium in a persons diet can be harmful because it causes blood to hold fluid. People with CKD need to be careful not to let too much fluid build up in their bodies.  - People with advanced CKD should avoid salt substitutes that use potassium because CKD limits the bodys ability to eliminate potassium from the blood.  - Damaged kidneys allow potassium to build up in the blood, causing serious heart problems. Potassium is found in many fruits and vegetables, such as bananas, potatoes, avocados, and melons.  - Too much phosphorus in the blood pulls calcium from the bones, making the bones weak and likely to break.  - People with advanced CKD may need to limit how much they drink because damaged kidneys can't remove extra fluid.  - Many patients find that keeping track of their test results helps them see how their treatment is working. Patients can ask their health care provider for copies of their lab reports and ask to have them explained, noting any results out of the normal range.
Question: What is (are) Male Breast Cancer ?

Answer: Key Points
                    - Male breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast.    - Radiation exposure, high levels of estrogen, and a family history of breast cancer can increase a mans risk of breast cancer.     - Male breast cancer is sometimes caused by inherited gene mutations (changes).    - Men with breast cancer usually have lumps that can be felt.     - Tests that examine the breasts are used to detect (find) and diagnose breast cancer in men.    - If cancer is found, tests are done to study the cancer cells.    - Survival for men with breast cancer is similar to survival for women with breast cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Male breast cancer is a disease in which malignant (cancer) cells form in the tissues of the breast.
                    Breast cancer may occur in men. Men at any age may develop breast cancer, but it is usually detected (found) in men between 60 and 70 years of age. Male breast cancer makes up less than 1% of all cases of breast cancer.   The following types of breast cancer are found in men:         -  Infiltrating ductal carcinoma: Cancer that has spread beyond the cells lining ducts in the breast. Most men with breast cancer have this type of cancer.    -  Ductal carcinoma in situ: Abnormal cells that are found in the lining of a duct; also called intraductal carcinoma.    -  Inflammatory breast cancer: A type of cancer in which the breast looks red and swollen and feels warm.     -  Paget disease of the nipple: A tumor that has grown from ducts beneath the nipple onto the surface of the nipple.          Lobular carcinoma in situ (abnormal cells found in one of the lobes or sections of the breast), which sometimes occurs in women, has not been seen in men.
                
                
                    Men with breast cancer usually have lumps that can be felt.
                    Lumps and other signs may be caused by male breast cancer or by other conditions. Check with your doctor if you notice a change in your breasts.
Question: What are the symptoms of Papillon Lefevre syndrome ?

Answer: What are the signs and symptoms of Papillon Lefevre syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillon Lefevre 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 fingernails 90% Gingivitis 90% Palmoplantar keratoderma 90% Periodontitis 90% Premature loss of primary teeth 90% Pustule 90% Reduced number of teeth 90% Cerebral calcification 50% Recurrent respiratory infections 50% Skin ulcer 50% Arachnodactyly 7.5% Hypertrichosis 7.5% Hypopigmented skin patches 7.5% Liver abscess 7.5% Melanoma 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Atrophy of alveolar ridges - Autosomal recessive inheritance - Choroid plexus calcification - Palmoplantar hyperkeratosis - Premature loss of teeth - Severe periodontitis - 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 Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ?

Answer: How might Blepharophimosis syndrome type 1 be treated? Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist. Eyelid surgery should be discussed with an oculoplastic surgeon to decide on the method and timing that is best suited for the patient. Traditionally, surgical correction of the blepharophimosis, epicanthus inversus, and telecanthus (canthoplasty) is performed at ages three to five years, followed about a year later by ptosis correction (usually requiring a brow suspension procedure). If the epicanthal folds are small, a "Y-V canthoplasty" is traditionally used; if the epicanthal folds are severe, a "double Z-plasty" is used. Unpublished reports have indicated that advanced understanding of the lower eyelid position has allowed for more targeted surgery that results in a more natural appearance.   For a general explanation of these procedures and to locate an eye-care professional visit the Foundation of the American Academy of Ophthalmology and the National Eye Institute websites. To locate a surgeon through the American Society of Ophthalmic Plastic & Reconstructive Surgery click here. Generally, premature ovarian failure (POF) is treated with hormone replacement therapy. There is no specific treatment for POF caused by blepharophimosis syndrome type 1. Hormone replacement therapy is generally estrogen and progesterone and sometimes also includes testosterone. Birth control pills are sometimes substituted for hormone replacement therapy. Although health care providers can suggest treatments for some of the symptoms of POF, currently there is no scientifically established treatment to restore fertility for women diagnosed with POF. Women with POF are encouraged to speak to a health care professional. If you wish to obtain more information and support, you can visit the International Premature Ovarian Failure Association.
Question: What causes Urinary Incontinence in Men ?

Answer: Urinary incontinence in men results when the brain does not properly signal the bladder, the sphincters do not squeeze strongly enough, or both. The bladder muscle may contract too much or not enough because of a problem with the muscle itself or the nerves controlling the bladder muscle. Damage to the sphincter muscles themselves or the nerves controlling these muscles can result in poor sphincter function. These problems can range from simple to complex.
                
A man may have factors that increase his chances of developing UI, including
                
- birth defectsproblems with development of the urinary tract  - a history of prostate cancersurgery or radiation treatment for prostate cancer can lead to temporary or permanent UI in men
                
UI is not a disease. Instead, it can be a symptom of certain conditions or the result of particular events during a mans life. Conditions or events that may increase a mans chance of developing UI include
                
- benign prostatic hyperplasia (BPH)a condition in which the prostate is enlarged yet not cancerous. In men with BPH, the enlarged prostate presses against and pinches the urethra. The bladder wall becomes thicker. Eventually, the bladder may weaken and lose the ability to empty, leaving some urine in the bladder. The narrowing of the urethra and incomplete emptying of the bladder can lead to UI.  - chronic coughinglong-lasting coughing increases pressure on the bladder and pelvic floor muscles.  - neurological problemsmen with diseases or conditions that affect the brain and spine may have trouble controlling urination.  - physical inactivitydecreased activity can increase a mans weight and contribute to muscle weakness.  - obesityextra weight can put pressure on the bladder, causing a need to urinate before the bladder is full.  - older agebladder muscles can weaken over time, leading to a decrease in the bladders capacity to store urine.
                
More information is provided in the NIDDK health topics, Nerve Disease and Bladder Control and Prostate Enlargement: Benign Prostatic Hyperplasia.