umarjan11/Medical-qna huggingface dataset:
Question: What is (are) campomelic dysplasia ?

Answer: Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.  The term "campomelic" comes from the Greek words for "bent limb." Affected individuals are typically born with bowing of the long bones in the legs, and occasionally, bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and inward- and upward-turning feet (clubfeet). These skeletal abnormalities begin developing before birth and can often be seen on ultrasound. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia.  Many people with campomelic dysplasia have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or normal female genitalia. Internal reproductive organs may not correspond with the external genitalia; the internal organs can be male (testes), female (ovaries), or a combination of the two. For example, an individual with female external genitalia may have testes or a combination of testes and ovaries.  Affected individuals have distinctive facial features, including a small chin, prominent eyes, and a flat face. They also have a large head compared to their body size. A particular group of physical features, called Pierre Robin sequence, is common in people with campomelic dysplasia. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). People with campomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants with campomelic dysplasia.  Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.
Question: What are the genetic changes related to renal tubular dysgenesis ?

Answer: Mutations in the ACE, AGT, AGTR1, or REN gene can cause renal tubular dysgenesis. These genes are involved in the renin-angiotensin system, which regulates blood pressure and the balance of fluids and salts in the body and plays a role in kidney development before birth.  The renin-angiotensin system consists of several proteins that are involved in a series of steps to produce a protein called angiotensin II. In the first step, the renin protein (produced from the REN gene) converts a protein called angiotensinogen (produced from the AGT gene) to angiotensin I. In the next step, angiotensin-converting enzyme (produced from the ACE gene) converts angiotensin I to angiotensin II. Angiotensin II attaches (binds) to the angiotensin II receptor type 1 (AT1 receptor; produced from the AGTR1 gene), stimulating chemical signaling.  By binding to the AT1 receptor, angiotensin II causes blood vessels to narrow (constrict), which results in increased blood pressure. This protein also stimulates production of the hormone aldosterone, which triggers the absorption of salt and water by the kidneys. The increased amount of fluid in the body also increases blood pressure. Proper blood pressure, which delivers oxygen to the developing tissues during fetal growth, is required for normal development of the kidneys (particularly of the proximal tubules) and other tissues.  Mutations in the ACE, AGT, AGTR1, or REN gene impair the production or function of angiotensin II, leading to a nonfunctional renin-angiotensin system. Without this system, the kidneys cannot control blood pressure. Because of low blood pressure, the flow of blood is reduced (hypoperfusion), and the fetal tissues do not get enough oxygen during development. As a result, kidney development is impaired, leading to the features of renal tubular dysgenesis. Hypoperfusion also causes the skull abnormalities found in individuals with this condition.  Medications that block the activity of the angiotensin-converting enzyme or the AT1 receptor are used to treat high blood pressure. Because these drugs impair the renin-angiotensin system, they can cause an acquired (non-inherited) form of renal tubular dysgenesis in fetuses of pregnant women who take them. Acquired renal tubular dysgenesis can also result from other conditions that cause renal hypoperfusion during fetal development. These include heart problems, congenital hemochromatosis, and a complication that can occur in twin pregnancies called twin-to-twin transfusion syndrome.
Question: What causes Diverticular Disease ?

Answer: Scientists are not certain what causes diverticulosis and diverticular disease. For more than 50 years, the most widely accepted theory was that a low-fiber diet led to diverticulosis and diverticular disease. Diverticulosis and diverticular disease were first noticed in the United States in the early 1900s, around the time processed foods were introduced into the American diet. Consumption of processed foods greatly reduced Americans fiber intake. Diverticulosis and diverticular disease are common in Western and industrialized countriesparticularly the United States, England, and Australiawhere low-fiber diets are common. The condition is rare in Asia and Africa, where most people eat high-fiber diets.1 Two large studies also indicate that a low-fiber diet may increase the chance of developing diverticular disease.2
                
However, a recent study found that a low-fiber diet was not associated with diverticulosis and that a high-fiber diet and more frequent bowel movements may be linked to an increased rather than decreased chance of diverticula.3
                
Other studies have focused on the role of decreased levels of the neurotransmitter serotonin in causing decreased relaxation and increased spasms of the colon muscle. A neurotransmitter is a chemical that helps brain cells communicate with nerve cells. However, more studies are needed in this area.
                
Studies have also found links between diverticular disease and obesity, lack of exercise, smoking, and certain medications including nonsteroidal anti-inflammatory drugs, such as aspirin, and steroids.3
                
Scientists agree that with diverticulitis, inflammation may begin when bacteria or stool get caught in a diverticulum. In the colon, inflammation also may be caused by a decrease in healthy bacteria and an increase in disease-causing bacteria. This change in the bacteria may permit chronic inflammation to develop in the colon.
                

                
What is fiber?   Fiber is a substance in foods that comes from plants. Fiber helps soften stool so it moves smoothly through the colon and is easier to pass. Soluble fiber dissolves in water and is found in beans, fruit, and oat products. Insoluble fiber does not dissolve in water and is found in whole-grain products and vegetables. Both kinds of fiber help prevent constipation.   Constipation is a condition in which an adult has fewer than three bowel movements a week or has bowel movements with stools that are hard, dry, and small, making them painful or difficult to pass.   High-fiber foods also have many benefits in preventing and controlling chronic diseases, such as cardiovascular disease, obesity, diabetes, and cancer.2
Question: What are the symptoms of Osteopetrosis autosomal dominant type 2 ?

Answer: What are the signs and symptoms of Osteopetrosis autosomal dominant type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 2. 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 epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Aseptic necrosis 90% Bone pain 90% Facial palsy 90% Frontal bossing 90% Joint dislocation 90% Macrocephaly 90% Osteoarthritis 90% Osteomyelitis 90% Recurrent fractures 90% Short distal phalanx of finger 90% Anemia 50% Genu valgum 50% Optic atrophy 50% Short stature 50% Visual impairment 50% Abnormality of leukocytes 7.5% Carious teeth 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hypocalcemia 7.5% Bone marrow hypocellularity 5% Abnormality of pelvic girdle bone morphology - Abnormality of the vertebral endplates - Autosomal dominant inheritance - Elevated serum acid phosphatase - Facial paralysis - Fractures of the long bones - Generalized osteosclerosis - Hip osteoarthritis - Juvenile onset - Mandibular osteomyelitis - Osteopetrosis - 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 Hartnup disease ?

Answer: What are the signs and symptoms of Hartnup disease? The signs and symptoms of Hartnup disease may vary and include the following:  Skin findings: sensitivity to sunlight  Neurologic symptoms: ataxia, spasticity, headaches,and hypotonia  Psychiatric symptoms: anxiety, emotional instability, mood changes  Ocular findings: double vision, nystagmus, strabismus, photophobia Symptoms may be triggered by sunlight exposure, fever, drugs, and emotional or physical stress. The episodes of skin and neurologic findings may last for 1-4 weeks before spontaneous remission occurs. The Human Phenotype Ontology provides the following list of signs and symptoms for Hartnup disease. 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) Cutaneous photosensitivity 90% EEG abnormality 90% Hallucinations 90% Hyperreflexia 90% Incoordination 90% Migraine 90% Muscular hypotonia 90% Malabsorption 50% Nystagmus 50% Photophobia 50% Short stature 50% Skin rash 50% Strabismus 50% Abnormal blistering of the skin 7.5% Cognitive impairment 7.5% Encephalitis 7.5% Gingivitis 7.5% Glossitis 7.5% Hypopigmented skin patches 7.5% Irregular hyperpigmentation 7.5% Seizures 7.5% Autosomal recessive inheritance - Emotional lability - Episodic ataxia - Hypertonia - Neutral hyperaminoaciduria - Psychosis - 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 Prader-Willi habitus, osteopenia, and camptodactyly ?

Answer: What are the signs and symptoms of Prader-Willi habitus, osteopenia, and camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi habitus, osteopenia, and camptodactyly. 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 form of the vertebral bodies 90% Camptodactyly of finger 90% Camptodactyly of toe 90% Cognitive impairment 90% Hypoplasia of penis 90% Obesity 90% Recurrent fractures 90% Abnormal diaphysis morphology 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Epicanthus 50% Eunuchoid habitus 50% Kyphosis 50% Overfolded helix 50% Prominent nasal bridge 50% Short foot 50% Short neck 50% Short stature 50% Strabismus 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Abnormality of the philtrum 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Abnormality of the genital system - Autosomal recessive inheritance - Camptodactyly - Enlarged epiphyses - Intellectual disability - Joint contracture of the hand - Osteopenia - Osteoporosis - 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 Hemolytic Anemia ?

Answer: The signs and symptoms of hemolytic anemia will depend on the type and severity of the disease.
                
People who have mild hemolytic anemia often have no signs or symptoms. More severe hemolytic anemia may cause many signs and symptoms, and they may be serious.
                
Many of the signs and symptoms of hemolytic anemia apply to all types of anemia.
                
Signs and Symptoms of Anemia
                
The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesn't have enough red blood cells to carry oxygen to its various parts.
                
A low red blood cell count also can cause shortness of breath, dizziness, headache, coldness in your hands and feet, pale skin, and chest pain.
                
A lack of red blood cells also means that your heart has to work harder to move oxygen-rich blood through your body. This can lead to arrhythmias (irregular heartbeats), a heart murmur, an enlarged heart, or even heart failure.
                
Signs and Symptoms of Hemolytic Anemia
                
Jaundice
                
Jaundice refers to a yellowish color of the skin or whites of the eyes. When red blood cells die, they release hemoglobin into the bloodstream.
                
The hemoglobin is broken down into a compound called bilirubin, which gives the skin and eyes a yellowish color. Bilirubin also causes urine to be dark yellow or brown.
                
Pain in the Upper Abdomen
                
Gallstones or an enlarged spleen may cause pain in the upper abdomen. High levels of bilirubin and cholesterol (from the breakdown of red blood cells) can form into stones in the gallbladder. These stones can be painful.
                
The spleen is an organ in the abdomen that helps fight infection and filters out old or damaged blood cells. In hemolytic anemia, the spleen may be enlarged, which can be painful.
                
Leg Ulcers and Pain
                
In people who have sickle cell anemia, the sickle-shaped cells can clog small blood vessels and block blood flow. This can cause leg sores and pain throughout the body.
                
A Severe Reaction to a Blood Transfusion
                
You may develop hemolytic anemia due to a blood transfusion. This can happen if the transfused blood is a different blood type than your blood.
                
Signs and symptoms of a severe reaction to a transfusion include fever, chills, low blood pressure, and shock. (Shock is a life-threatening condition that occurs if the body isn't getting enough blood flow.)
Question: What causes Dry Eye ?

Answer: Many factors can lead to dry eye, including aging, medications, problems with eyelid function, disease, some types of surgery, environmental factors, and allergies. Many Older People Have Dry Eye Elderly people often have dryness of the eyes, but dry eye can occur at any age. Nearly five million Americans 50 years of age and older are estimated to have dry eye. Of these, more than three million are women and more than one and a half million are men. Tens of millions more have less severe symptoms. Dry eye is more common after menopause. Women who experience menopause prematurely are more likely to have eye surface damage from dry eye.  Medications Dry eye can be a side effect of some medications, including antihistamines, nasal decongestants, tranquilizers, certain blood pressure medicines, Parkinson's medications, and some anti-depressants. Women who are on hormone replacement therapy may experience dry eye symptoms. Eyelid Function Eyelid function can also be a factor in dry eye. Diseases that affect the eyelid, such as meibomian gland dysfunction, can also cause dry eye. Dry eye may also occur from exposure keratitis, in which the eyelids do not close properly during normal blinking or sleep. Skin diseases on or around the eyelids can result in dry eye. Infrequent blinking associated with staring at computer or video screens also may lead to dry eye symptoms. Systemic Diseases Certain diseases can cause dry eye. Chronic inflammation of the conjunctiva, or the lacrimal glands, can cause dry eye. Immune system disorders such as Sjgren's syndrome, systemic lupus erythematosus, and rheumatoid arthritis also can cause dry eye. Sjgren's syndrome leads to inflammation and dryness of the mouth, eyes, and other mucous membranes. Thyroid disease, which can sometimes cause the eye to bulge out, can also lead to dry eye by increasing the surface area of the eye exposed to the environment. Surgeries Some types of surgery can lead to dry eye. For example, dry eye can develop after the refractive surgery known as LASIK. These symptoms generally last three to six months, but may last longer in some cases. Dry eye can also occur as a result of cosmetic surgery that widens the eyelids too much and increases the surface area of the eye exposed to the environment. Environment Environmental exposure to irritants such as chemical fumes and tobacco smoke, or drafts from air conditioning or heating can cause dry eye. Wearing contact lenses over a long period of time can lead to a loss of feeling in the cornea and this can cause dry eye. Allergies also can be associated with dry eye.
Question: What is (are) Chronic Myelogenous Leukemia ?

Answer: Key Points
                    - Chronic myelogenous leukemia is a disease in which the bone marrow makes too many white blood cells.    - Leukemia may affect red blood cells, white blood cells, and platelets.    - Signs and symptoms of chronic myelogenous leukemia include fever, night sweats, and tiredness.     - Most people with CML have a gene mutation (change) called the Philadelphia chromosome.    - Tests that examine the blood and bone marrow are used to detect (find) and diagnose chronic myelogenous leukemia.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Chronic myelogenous leukemia is a disease in which the bone marrow makes too many white blood cells.
                    Chronic myelogenous leukemia (also called CML or chronic granulocytic leukemia) is a slowly progressing blood and bone marrow disease that usually occurs during or after middle age, and rarely occurs in children.
                
                
                    Leukemia may affect red blood cells, white blood cells, and platelets.
                    Normally, the bone marrow 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 lymphoid stem cell becomes a white blood 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.    -  Platelets that form blood clots to stop bleeding.    -  Granulocytes (white blood cells) that fight infection and disease.         In CML, too many blood stem cells become a type of white blood cell called granulocytes. These granulocytes are abnormal and do not become healthy white blood cells. They are also called leukemia cells. The leukemia cells can build up in the blood and bone marrow so there is less room for healthy white blood cells, red blood cells, and platelets. When this happens, infection, anemia, or easy bleeding may occur.   This summary is about chronic myelogenous 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 Lymphocytic Leukemia Treatment     -  Hairy Cell Leukemia Treatment