umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Beta-thalassemia ?

Answer: What are the signs and symptoms of Beta-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta-thalassemia. 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 heme biosynthetic pathway 90% Hypersplenism 90% Pallor 90% Splenomegaly 90% Abnormality of iron homeostasis 50% Abnormality of temperature regulation 50% Abnormality of the genital system 50% Abnormality of the teeth 50% Behavioral abnormality 50% Biliary tract abnormality 50% Depressed nasal bridge 50% Feeding difficulties in infancy 50% Genu valgum 50% Hepatomegaly 50% Malabsorption 50% Malar prominence 50% Muscle weakness 50% Paresthesia 50% Reduced bone mineral density 50% Respiratory insufficiency 50% Upslanted palpebral fissure 50% Abnormality of color vision 7.5% Abnormality of the thorax 7.5% Anterior hypopituitarism 7.5% Arthralgia 7.5% Bone marrow hypocellularity 7.5% Cataract 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Elevated hepatic transaminases 7.5% Hearing impairment 7.5% Hypertrophic cardiomyopathy 7.5% Hypoparathyroidism 7.5% Hypothyroidism 7.5% Neoplasm of the liver 7.5% Nyctalopia 7.5% Primary adrenal insufficiency 7.5% Pulmonary hypertension 7.5% Skeletal dysplasia 7.5% Skin ulcer 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Hypochromic microcytic anemia - Reduced beta/alpha synthesis ratio - 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 type 1 diabetes ?

Answer: These resources address the diagnosis or management of type 1 diabetes:  - Food and Drug Administration: Blood Glucose Measuring Devices  - Food and Drug Administration: Insulin  - Genetic Testing Registry: Diabetes mellitus type 1  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 10  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 11  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 12  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 13  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 15  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 17  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 18  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 19  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 2  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 20  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 21  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 22  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 23  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 24  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 3  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 4  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 5  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 6  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 7  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 8  - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, X-linked, susceptibility to  - MedlinePlus Encyclopedia: Anti-Insulin Antibody Test  - MedlinePlus Encyclopedia: Home Blood Sugar Testing  - MedlinePlus Health Topic: Islet Cell Transplantation  - MedlinePlus Health Topic: Pancreas Transplantation  - Type 1 Diabetes in Adults: National Clinical Guideline for Diagnosis and Management in Primary and Secondary Care (2004)  - Type 1 Diabetes: Diagnosis and Management of Type 1 Diabetes in Children and Young People (2004)   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 is (are) Chronic Lymphocytic Leukemia ?

Answer: Key Points
                    - Chronic lymphocytic leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell).    - Leukemia may affect red blood cells, white blood cells, and platelets.    - Older age can affect the risk of developing chronic lymphocytic leukemia.    - Signs and symptoms of chronic lymphocytic leukemia include swollen lymph nodes and tiredness.     - Tests that examine the blood, bone marrow, and lymph nodes are used to detect (find) and diagnose chronic lymphocytic leukemia.    - Certain factors affect treatment options and prognosis (chance of recovery).
                
                
                    Chronic lymphocytic leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell).
                    Chronic lymphocytic leukemia (also called CLL) is a blood and bone marrow disease that usually gets worse slowly. CLL is one of the most common types of leukemia in adults. It often occurs during or after middle age; it rarely occurs in children.
                
                
                    Leukemia may affect red blood cells, white blood cells, and platelets.
                    Normally, the body makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell.   A myeloid stem cell becomes one of three types of mature blood cells:         -  Red blood cells that carry oxygen and other substances to all tissues of the body.    -  White blood cells that fight infection and disease.     -  Platelets that form blood clots to stop bleeding.        A lymphoid stem cell becomes a lymphoblast cell and then one of three types of lymphocytes (white blood cells):         -  B lymphocytes that make antibodies to help fight infection.    -  T lymphocytes that help B lymphocytes make antibodies to fight infection.    -  Natural killer cells that attack cancer cells and viruses.         In CLL, too many blood stem cells become abnormal lymphocytes and do not become healthy white blood cells. The abnormal lymphocytes may also be called leukemia cells. The lymphocytes are not able to fight infection very well. Also, as the number of lymphocytes increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may cause infection, anemia, and easy bleeding.    This summary is about chronic lymphocytic leukemia. See the following PDQ summaries for more information about leukemia:          -  Adult Acute Lymphoblastic Leukemia Treatment.    -  Childhood Acute Lymphoblastic Leukemia Treatment.    -  Adult Acute Myeloid Leukemia Treatment.    -  Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment.    -  Chronic Myelogenous Leukemia Treatment.    -  Hairy Cell Leukemia Treatment.
Question: What are the treatments for Urinary Incontinence ?

Answer: Today, there are more treatments for urinary incontinence than ever before. The choice of treatment depends on the type of bladder control problem you have, how serious it is, and what best fits your lifestyle. As a general rule, the simplest and safest treatments should be tried first. Types of Treatments If lifestyle changes and bladder training dont help, your health care provider may suggest medical treatments. Medical treatments may include the following. - Medicines. If you have urgency urinary incontinence, your provider may prescribe a medicine to calm bladder muscles and nerves. These calming medicines help keep bladder muscles and nerves from making you urinate when youre not ready. Medicines for urgency urinary incontinence come as pills, liquid, creams, or patches. No medicines treat stress urinary incontinence. Medicines. If you have urgency urinary incontinence, your provider may prescribe a medicine to calm bladder muscles and nerves. These calming medicines help keep bladder muscles and nerves from making you urinate when youre not ready. Medicines for urgency urinary incontinence come as pills, liquid, creams, or patches. No medicines treat stress urinary incontinence. - Medical devices. Some women may be able to use a medical device to help prevent leaking. One medical device -- called a urethral insert -- blocks the urethra for a short time to prevent leaking when it is most likely to happen, such as during physical activity. Another device -- called a pessary -- is put in the vagina to help hold up the bladder if you have a prolapsed bladder or vagina (when the vagina or bladder has shifted out of place).  Medical devices. Some women may be able to use a medical device to help prevent leaking. One medical device -- called a urethral insert -- blocks the urethra for a short time to prevent leaking when it is most likely to happen, such as during physical activity. Another device -- called a pessary -- is put in the vagina to help hold up the bladder if you have a prolapsed bladder or vagina (when the vagina or bladder has shifted out of place). - Nerve stimulation. Nerve stimulation sends mild electric current to the nerves around the bladder that help control urination. Sometimes nerve stimulation can be done at home, by placing an electrode in the vagina or anus. Or, it may require minor surgery to place an electrode under the skin on the leg or lower back.  Nerve stimulation. Nerve stimulation sends mild electric current to the nerves around the bladder that help control urination. Sometimes nerve stimulation can be done at home, by placing an electrode in the vagina or anus. Or, it may require minor surgery to place an electrode under the skin on the leg or lower back. - Surgery. Sometimes surgery can help fix the cause of urinary incontinence. Surgery may give the bladder and urethra more support or help keep the urethra closed during coughing or sneezing.  Surgery. Sometimes surgery can help fix the cause of urinary incontinence. Surgery may give the bladder and urethra more support or help keep the urethra closed during coughing or sneezing.
Question: What are the symptoms of Genitopatellar syndrome ?

Answer: What are the signs and symptoms of Genitopatellar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genitopatellar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of female external genitalia 90% Abnormality of pelvic girdle bone morphology 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cryptorchidism 90% Microcephaly 90% Patellar aplasia 90% Polycystic kidney dysplasia 90% Prominent nasal bridge 90% Scrotal hypoplasia 90% Abnormal hair quantity 50% Aplasia/Hypoplasia of the corpus callosum 50% Delayed eruption of teeth 50% Fine hair 50% Hypertelorism 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Neurological speech impairment 50% Seizures 50% Talipes 50% Aplasia/Hypoplasia of the lungs 7.5% Apnea 7.5% Atria septal defect 7.5% Hearing impairment 7.5% Radioulnar synostosis 7.5% Short stature 7.5% Agenesis of corpus callosum - Autosomal recessive inheritance - Clitoral hypertrophy - Coarse facial features - Colpocephaly - Congenital hip dislocation - Dysphagia - Hip contracture - Hydronephrosis - Hypertrophic labia minora - Hypoplastic inferior pubic rami - Hypoplastic ischia - Intellectual disability, progressive - Knee flexion contracture - Laryngomalacia - Micropenis - Multicystic kidney dysplasia - Muscular hypotonia - Patellar dislocation - Periventricular gray matter heterotopia - Polyhydramnios - Prominent nose - Pulmonary hypoplasia - Short phalanx of finger - Sparse scalp hair - Talipes equinovarus - Ventricular septal defect - Wide nose - 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 Nail-patella syndrome ?

Answer: What are the signs and symptoms of Nail-patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail-patella 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 pelvic girdle bone morphology 90% Abnormality of the fingernails 90% Anonychia 90% Cubitus valgus 90% Exostoses 90% Hypoplastic toenails 90% Joint hypermobility 90% Limitation of joint mobility 90% Patellar aplasia 90% Skeletal dysplasia 90% Sprengel anomaly 90% Joint dislocation 50% Joint swelling 50% Nephrotic syndrome 50% Osteoarthritis 50% Proteinuria 50% Cataract 7.5% Glaucoma 7.5% Glomerulopathy 7.5% Hearing impairment 7.5% Hematuria 7.5% Hypertension 7.5% Nephropathy 7.5% Renal insufficiency 7.5% Vasculitis 7.5% Absence of pectoralis minor muscle - Absent distal interphalangeal creases - Antecubital pterygium - Autosomal dominant inheritance - Biceps aplasia - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Concave nail - Disproportionate prominence of the femoral medial condyle - Elongated radius - Glenoid fossa hypoplasia - Glomerulonephritis - Hypoplasia of first ribs - Hypoplastic radial head - Iliac horns - Keratoconus - Lester's sign - Limited elbow extension - Lumbar hyperlordosis - Microcornea - Microphakia - Patellar dislocation - Pectus excavatum - Pes planus - Ptosis - Quadriceps aplasia - Ridged nail - Scoliosis - Sensorineural hearing impairment - Short stature - Spina bifida - Talipes equinovarus - Thickening of the lateral border of the scapula - Triceps aplasia - 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) transthyretin amyloidosis ?

Answer: Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70.  There are three major forms of transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect.  The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. Impairments in bodily functions can include sexual impotence, diarrhea, constipation, problems with urination, and a sharp drop in blood pressure upon standing (orthostatic hypotension). Some people experience heart and kidney problems as well. Various eye problems may occur, such as cloudiness of the clear gel that fills the eyeball (vitreous opacity), dry eyes, increased pressure in the eyes (glaucoma), or pupils with an irregular or "scalloped" appearance. Some people with this form of transthyretin amyloidosis develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers.  The leptomeningeal form of transthyretin amyloidosis primarily affects the central nervous system. In people with this form, amyloidosis occurs in the leptomeninges, which are two thin layers of tissue that cover the brain and spinal cord. A buildup of protein in this tissue can cause stroke and bleeding in the brain, an accumulation of fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and loss of intellectual function (dementia). Eye problems similar to those in the neuropathic form may also occur. When people with leptomeningeal transthyretin amyloidosis have associated eye problems, they are said to have the oculoleptomeningeal form.  The cardiac form of transthyretin amyloidosis affects the heart. People with cardiac amyloidosis may have an abnormal heartbeat (arrhythmia), an enlarged heart (cardiomegaly), or orthostatic hypertension. These abnormalities can lead to progressive heart failure and death. Occasionally, people with the cardiac form of transthyretin amyloidosis have mild peripheral neuropathy.
Question: What are the genetic changes related to palmoplantar keratoderma with deafness ?

Answer: Palmoplantar keratoderma with deafness can be caused by mutations in the GJB2 or MT-TS1 genes.  The GJB2 gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules.  Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth, maturation, and stability of the outermost layer of skin (the epidermis).  The GJB2 gene mutations that cause palmoplantar keratoderma with deafness change single protein building blocks (amino acids) in connexin 26. The altered protein probably disrupts the function of normal connexin 26 in cells, and may interfere with the function of other connexin proteins. This disruption could affect skin growth and also impair hearing by disturbing the conversion of sound waves to nerve impulses.  Palmoplantar keratoderma with deafness can also be caused by a mutation in the MT-TS1 gene. This gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer RNA (tRNA), helps assemble amino acids into full-length, functioning proteins. The MT-TS1 gene provides instructions for a specific form of tRNA that is designated as tRNASer(UCN). This molecule attaches to a particular amino acid, serine (Ser), and inserts it into the appropriate locations in many different proteins.  The tRNASer(UCN) molecule is present only in cellular structures called mitochondria. These structures convert energy from food into a form that cells can use. Through a process called oxidative phosphorylation, mitochondria use oxygen, simple sugars, and fatty acids to create adenosine triphosphate (ATP), the cell's main energy source. The tRNASer(UCN) molecule is involved in the assembly of proteins that carry out oxidative phosphorylation.  The MT-TS1 gene mutation that causes palmoplantar keratoderma with deafness leads to reduced levels of tRNASer(UCN) to assemble proteins within mitochondria. Reduced production of proteins needed for oxidative phosphorylation may impair the ability of mitochondria to make ATP. Researchers have not determined why the effects of the mutation are limited to cells in the inner ear and the skin in this condition.