umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Cant syndrome ?

Answer: Cant syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.  People with Cant syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks in front of the ears. They also have increased body hair, especially on the back, arms, and legs. Most affected individuals have a large head (macrocephaly) and distinctive facial features that are described as "coarse." These include a broad nasal bridge, skin folds covering the inner corner of the eyes (epicanthal folds), and a wide mouth with full lips. As affected individuals get older, the face lengthens, the chin becomes more prominent, and the eyes become deep-set.  Many infants with Cant syndrome are born with a heart defect such as an enlarged heart (cardiomegaly) or patent ductus arteriosus (PDA). The ductus arteriosus is a connection between two major arteries, the aorta and the pulmonary artery. This connection is open during fetal development and normally closes shortly after birth. However, the ductus arteriosus remains open, or patent, in babies with PDA. Other heart problems have also been found in people with Cant syndrome, including an abnormal buildup of fluid around the heart (pericardial effusion) and high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension).  Additional features of this condition include distinctive skeletal abnormalities, a large body size (macrosomia) at birth, a reduced amount of fat under the skin (subcutaneous fat) beginning in childhood, deep horizontal creases in the palms of the hands and soles of the feet, and an increased susceptibility to respiratory infections. Other signs and symptoms that have been reported include abnormal swelling in the body's tissues (lymphedema), side-to-side curvature of the spine (scoliosis), and reduced bone density (osteopenia). Some affected children have weak muscle tone (hypotonia) that delays the development of motor skills such as sitting, standing, and walking. Most have mildly delayed speech, and some affected children have mild intellectual disability or learning problems.
Question: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?

Answer: Everyone should know about fat sources because eating the wrong kinds of fat and too much fat increases the risk of clogged blood vessels and heart problems. Fat provides energy, helps produce hormonelike substances that regulate blood pressure and other heart functions, and carries fat-soluble vitamins. Everyone needs dietary fat, but some fats are healthier than others. People with CKD are at higher risk of having a heart attack or stroke. Therefore, people with CKD should be especially careful about how dietary fat affects their heart health.
                
People with advanced CKD should talk with a dietitian about healthy and unhealthy sources of fat. Saturated fats and trans-fatty acids can raise blood cholesterol levels and clog blood vessels. Saturated fats are found in animal products such as red meat, poultry, whole milk, and butter. These fats are usually solid at room temperature. Trans-fatty acids are often found in commercially baked goods such as cookies and cakes and in fried foods like doughnuts and french fries.
                
A dietitian can suggest healthy ways to include fat in the diet, especially if more calories are needed. Vegetable oils such as corn or safflower oil are healthier than animal fats such as butter or lard. Hydrogenated vegetable oils should be avoided because they are high in trans-fatty acids. Monounsaturated fatsolive, peanut, and canola oilsare healthy alternatives to animal fats. The table below shows the sources of fats, broken down into three types of fats that should be eaten less often and good fats that can be eaten more often.
                
Sources of Fats
                
Eat Less Often    Eat More Often        Saturated fats          - red meat      - poultry      - whole milk      - butter      - lard        Monounsaturated fats          - corn oil      - safflower oil      - olive oil      - peanut oil      - canola oil            Trans-fatty acids          - commercial baked goods      - french fries      - doughnuts            Hydrogenated vegetable oils          - margarine      - shortening
Question: Who is at risk for Diabetes, Heart Disease, and Stroke? ?

Answer: Diabetes itself is a risk factor for heart disease and stroke. Also, many people with diabetes have other conditions that increase their chance of developing heart disease and stroke. These conditions are called risk factors. One risk factor for heart disease and stroke is having a family history of heart disease. If one or more members of your family had a heart attack at an early age (before age 55 for men or 65 for women), you may be at increased risk.
                
You can't change whether heart disease runs in your family, but you can take steps to control the other risk factors for heart disease listed here:
                
- Having central obesity. Central obesity means carrying extra weight around the waist, as opposed to the hips. A waist measurement of more than 40 inches for men and more than 35 inches for women means you have central obesity. Your risk of heart disease is higher because abdominal fat can increase the production of LDL (bad) cholesterol, the type of blood fat that can be deposited on the inside of blood vessel walls.  - Having abnormal blood fat (cholesterol) levels.      - LDL cholesterol can build up inside your blood vessels, leading to narrowing and hardening of your arteriesthe blood vessels that carry blood from the heart to the rest of the body. Arteries can then become blocked. Therefore, high levels of LDL cholesterol raise your risk of getting heart disease.    - Triglycerides are another type of blood fat that can raise your risk of heart disease when the levels are high.    - HDL (good) cholesterol removes deposits from inside your blood vessels and takes them to the liver for removal. Low levels of HDL cholesterol increase your risk for heart disease.    - Having high blood pressure. If you have high blood pressure, also called hypertension, your heart must work harder to pump blood. High blood pressure can strain the heart, damage blood vessels, and increase your risk of heart attack, stroke, eye problems, and kidney problems.  - Smoking. Smoking doubles your risk of getting heart disease. Stopping smoking is especially important for people with diabetes because both smoking and diabetes narrow blood vessels. Smoking also increases the risk of other long-term complications, such as eye problems. In addition, smoking can damage the blood vessels in your legs and increase the risk of amputation.
Question: What is (are) Glomerular Diseases ?

Answer: Renal failure is any acute or chronic loss of kidney function and is the term used when some kidney function remains. Total kidney failure, sometimes called end-stage renal disease (ESRD), indicates permanent loss of kidney function. Depending on the form of glomerular disease, renal function may be lost in a matter of days or weeks or may deteriorate slowly and gradually over the course of decades.
                
Acute Renal Failure
                
A few forms of glomerular disease cause very rapid deterioration of kidney function. For example, PSGN can cause severe symptoms (hematuria, proteinuria, edema) within 2 to 3 weeks after a sore throat or skin infection develops. The patient may temporarily require dialysis to replace renal function. This rapid loss of kidney function is called acute renal failure (ARF). Although ARF can be life-threatening while it lasts, kidney function usually returns after the cause of the kidney failure has been treated. In many patients, ARF is not associated with any permanent damage. However, some patients may recover from ARF and subsequently develop CKD.
                
Chronic Kidney Disease
                
Most forms of glomerular disease develop gradually, often causing no symptoms for many years. CKD is the slow, gradual loss of kidney function. Some forms of CKD can be controlled or slowed down. For example, diabetic nephropathy can be delayed by tightly controlling blood glucose levels and using ACE inhibitors and ARBs to reduce proteinuria and control blood pressure. But CKD cannot be cured. Partial loss of renal function means that some portion of the patient's nephrons have been scarred, and scarred nephrons cannot be repaired. In many cases, CKD leads to total kidney failure.
                
Total Kidney Failure
                
To stay alive, a patient with total kidney failure must go on dialysishemodialysis or peritoneal dialysisor receive a new kidney through transplantation. Patients with CKD who are approaching total kidney failure should learn as much about their treatment options as possible so they can make an informed decision when the time comes. With the help of dialysis or transplantation, many people continue to lead full, productive lives after reaching total kidney failure.
Question: What are the symptoms of Hypertryptophanemia ?

Answer: What are the signs and symptoms of Hypertryptophanemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertryptophanemia. 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 dermatoglyphics 90% Neurological speech impairment 90% Abnormality of the elbow 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Abnormality of the knees 50% Abnormality of the ulna 50% Abnormality of the wrist 50% Adducted thumb 50% Aplasia/Hypoplasia of the radius 50% Asymmetry of the thorax 50% Cognitive impairment 50% EEG abnormality 50% Hyperhidrosis 50% Hypertelorism 50% Joint hypermobility 50% Myopia 50% Strabismus 50% Ulnar deviation of finger 50% Aggressive behavior - Camptodactyly of finger - Emotional lability - Generalized joint laxity - Hypersexuality - Limited elbow extension - Pes planus - Tryptophanuria - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of X-linked lymphoproliferative syndrome ?

Answer: What are the signs and symptoms of X-linked lymphoproliferative syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative 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) Cellular immunodeficiency 90% Decreased antibody level in blood 50% Hepatomegaly 50% Lymphadenopathy 50% Lymphoma 50% Splenomegaly 50% Anemia 7.5% Fever 9/10 Splenomegaly 9/10 Hepatitis 8/9 Hypertriglyceridemia 7/8 Hypofibrinogenemia 7/8 Increased serum ferritin 7/8 Hemophagocytosis 4/9 Encephalitis - Fulminant hepatitis - Hepatic encephalopathy - IgG deficiency - Immunodeficiency - Increased IgM level - Meningitis - Pancytopenia - Recurrent pharyngitis - Reduced natural killer cell activity - Thrombocytopenia - X-linked inheritance - 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 is (are) rhizomelic chondrodysplasia punctata ?

Answer: Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.  Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). Affected individuals also have a specific bone abnormality called chondrodysplasia punctata, which affects the growth of the long bones and can be seen on x-rays. People with rhizomelic chondrodysplasia punctata often develop joint deformities (contractures) that make the joints stiff and painful.  Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. These include a prominent forehead, widely set eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), a small nose with upturned nostrils, and full cheeks. Additionally, almost all affected individuals have clouding of the lenses of the eyes (cataracts). The cataracts are apparent at birth (congenital) or develop in early infancy.  Rhizomelic chondrodysplasia punctata is associated with significantly delayed development and severe intellectual disability. Most children with this condition do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases. Affected infants grow much more slowly than other children their age, and many also have seizures. Recurrent respiratory infections and life-threatening breathing problems are common. Because of their severe health problems, most people with rhizomelic chondrodysplasia punctata survive only into childhood. It is rare for affected children to live past age 10. However, a few individuals with milder features of the condition have lived into early adulthood.  Researchers have described three types of rhizomelic chondrodysplasia punctata: type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). The types have similar features and are distinguished by their genetic cause.
Question: What are the symptoms of Erythromelalgia ?

Answer: What are the signs and symptoms of Erythromelalgia? Currently it is very difficult to predict how a person's primary erythromelalgia will affect them overtime. The cause of primary erythromelalgia is not well understood. Much of the literature regarding the long term outlook for people with idiopathic primary erythromelalgia is compiled from individual case reports. Erythromelalgia is usually a chronic or persistent condition, however there have been cases that have fully resolved with time. Many people with primary erythromelalgia have stable symptoms, however cases of progressive disease (symptoms worsening overtime) have also been described. Pain is a characteristic/classic feature of primary erythromelalgia. Unfortunately we were not able to find information specific to painless cases of this disorder, and outcomes of these individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Erythromelalgia. 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) Dysautonomia 5% Abnormality of the musculature - Autosomal dominant inheritance - Blurred vision - Constipation - Diarrhea - Hyperhidrosis - Juvenile onset - Myalgia - Pain - Palpitations - Xerostomia - 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 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis ?

Answer: What are the signs and symptoms of Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis. 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% Aplasia/Hypoplasia of the eyebrow 90% Hepatomegaly 90% Ichthyosis 90% Splenomegaly 90% Abnormality of dental enamel 7.5% Acanthosis nigricans 7.5% Portal hypertension 7.5% Reduced number of teeth 7.5% Abnormality of blood and blood-forming tissues - Alopecia - Autosomal recessive inheritance - Cholangitis - Dry skin - Hypodontia - Hypoplasia of dental enamel - Hypotrichosis - Jaundice - Oligodontia - Orthokeratosis - Parakeratosis - Sparse eyelashes - 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 familial hypertrophic cardiomyopathy ?

Answer: Mutations in one of several genes can cause familial hypertrophic cardiomyopathy; the most commonly involved genes are MYH7, MYBPC3, TNNT2, and TNNI3. Other genes, including some that have not been identified, may also be involved in this condition.  The proteins produced from the genes associated with familial hypertrophic cardiomyopathy play important roles in contraction of the heart muscle by forming muscle cell structures called sarcomeres. Sarcomeres, which are the basic units of muscle contraction, are made up of thick and thin protein filaments. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract. In the heart, regular contractions of cardiac muscle pump blood to the rest of the body.  The protein produced from the MYH7 gene, called cardiac beta ()-myosin heavy chain, is the major component of the thick filament in sarcomeres. The protein produced from the MYBPC3 gene, cardiac myosin binding protein C, associates with the thick filament, providing structural support and helping to regulate muscle contractions.  The TNNT2 and TNNI3 genes provide instructions for making cardiac troponin T and cardiac troponin I, respectively, which are two of the three proteins that make up the troponin protein complex found in cardiac muscle cells. The troponin complex associates with the thin filament of sarcomeres. It controls muscle contraction and relaxation by regulating the interaction of the thick and thin filaments.  It is unknown how mutations in sarcomere-related genes lead to hypertrophy of the heart muscle and problems with heart rhythm. The mutations may result in an altered sarcomere protein or reduce the amount of the protein. An abnormality in or shortage of any one of these proteins may impair the function of the sarcomere, disrupting normal cardiac muscle contraction. Research shows that, in affected individuals, contraction and relaxation of the heart muscle is abnormal, even before hypertrophy develops. However, it is not clear how these contraction problems are related to hypertrophy or the symptoms of familial hypertrophic cardiomyopathy.
Question: What are the genetic changes related to corticosteroid-binding globulin deficiency ?

Answer: Mutations in the SERPINA6 gene cause corticosteroid-binding globulin deficiency. The SERPINA6 gene provides instructions for making a protein called corticosteroid-binding globulin (CBG), which is primarily produced in the liver. The CBG protein attaches (binds) to a hormone called cortisol. This hormone has numerous functions, such as maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. When cortisol is bound to CBG, the hormone is turned off (inactive). Normally, around 80 to 90 percent of the body's cortisol is bound to CBG. When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it, causing cortisol to become active. In this manner, CBG regulates the amount of cortisol that is available for use in the body. The amount of total cortisol in the body consists of both bound (inactive) and unbound (active) cortisol.  SERPINA6 gene mutations often decrease the CBG protein's ability to bind to cortisol; some severe mutations prevent the production of any CBG protein. With less functional CBG to bind cortisol, people with corticosteroid-binding globulin deficiency usually have increased unbound cortisol levels. Typically, the body decreases cortisol production to compensate, resulting in a reduction in total cortisol.  It is unclear how a decrease in CBG protein and total cortisol leads to the signs and symptoms of corticosteroid-binding globulin deficiency. Since the CBG protein is needed to transport cortisol to specific tissues at certain times, it may be that while cortisol is available in the body, the cortisol is not getting to the tissues that require it. A decrease in cortisol may influence widening or narrowing of the blood vessels, contributing to abnormal blood pressure. Some researchers think the features of the disorder may influence each other and that fatigue could be a result of chronic pain rather than a symptom of the disorder itself. There may also be other genetic or environmental factors that influence whether an affected individual is more likely to develop pain or fatigue.