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

Answer: What are the signs and symptoms of SCARF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SCARF 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% Aplasia/Hypoplasia of the abdominal wall musculature 90% Aplasia/Hypoplasia of the nipples 90% Cognitive impairment 90% Craniosynostosis 90% Displacement of the external urethral meatus 90% Hyperextensible skin 90% Hypoplasia of penis 90% Joint hypermobility 90% Long philtrum 90% Prominent nasal bridge 90% Short neck 90% Thickened nuchal skin fold 90% Umbilical hernia 90% Abnormal form of the vertebral bodies 50% Abnormal hair quantity 50% Abnormality of dental enamel 50% Deep philtrum 50% Enlarged thorax 50% Epicanthus 50% Hepatomegaly 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Ptosis 50% Barrel-shaped chest - Bifid scrotum - Coronal craniosynostosis - Cryptorchidism - Cutis laxa - Diastasis recti - Hypoplasia of dental enamel - Hypoplastic nipples - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low anterior hairline - Low posterior hairline - Low-set ears - Micropenis - Perineal hypospadias - Posteriorly rotated ears - Short chin - Short sternum - Sparse hair - Strabismus - Webbed neck - Wide intermamillary distance - Wide nasal bridge - 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: Is X-linked infantile spasm syndrome inherited ?

Answer: X-linked infantile spasm syndrome can have different inheritance patterns depending on the genetic cause.  When caused by mutations in the ARX gene, this condition is inherited in an X-linked recessive pattern. The ARX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Usually in females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. However, in some instances, one altered copy of the ARX gene is sufficient because the X chromosome with the normal copy of the ARX gene is turned off through a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, such that each X chromosome is active in about half of the body cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Some ARX gene mutations may be associated with skewed X-inactivation, which results in the inactivation of the X chromosome with the normal copy of the ARX gene in most cells of the body. This skewed X-inactivation causes the chromosome with the mutated ARX gene to be expressed in more than half of cells, causing X-linked infantile spasm syndrome.  When caused by mutations in the CDKL5 gene, this condition is thought to have an X-linked dominant inheritance pattern. The CDKL5 gene is also located on the X chromosome, making this condition X-linked. The inheritance is dominant because one copy of the altered gene in each cell is sufficient to cause the condition in both males and females.  X-linked infantile spasm syndrome caused by CDKL5 gene mutations usually occurs in individuals with no history of the disorder in their family. These mutations likely occur in early embryonic development (called de novo mutations). Because males have only one X chromosome, X-linked dominant disorders are often more severe in males than in females. Male fetuses with CDKL5-related X-linked infantile spasm syndrome may not survive to birth, so more females are diagnosed with the condition. In females, the distribution of active and inactive X chromosomes due to X-inactivation may affect whether a woman develops the condition or the severity of the signs and symptoms. Generally, the larger the proportion of active X chromosomes that contain the mutated CDKL5 gene, the more severe the signs and symptoms of the condition are.  A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question: What causes Adrenal Insufficiency and Addison's Disease ?

Answer: A lack of CRH or ACTH causes secondary adrenal insufficiency. The lack of these hormones in the body can be traced to several possible sources.
                
Stoppage of Corticosteroid Medication
                
A temporary form of secondary adrenal insufficiency may occur when a person who has been taking a synthetic glucocorticoid hormone, called a corticosteroid, for a long time stops taking the medication. Corticosteroids are often prescribed to treat inflammatory illnesses such as rheumatoid arthritis, asthma, and ulcerative colitis. In this case, the prescription doses often cause higher levels than those normally achieved by the glucocorticoid hormones created by the body. When a person takes corticosteroids for prolonged periods, the adrenal glands produce less of their natural hormones. Once the prescription doses of corticosteroid are stopped, the adrenal glands may be slow to restart their production of the bodys glucocorticoids. To give the adrenal glands time to regain function and prevent adrenal insufficiency, prescription corticosteroid doses should be reduced gradually over a period of weeks or even months. Even with gradual reduction, the adrenal glands might not begin to function normally for some time, so a person who has recently stopped taking prescription corticosteroids should be watched carefully for symptoms of secondary adrenal insufficiency.
                
Surgical Removal of Pituitary Tumors
                
Another cause of secondary adrenal insufficiency is surgical removal of the usually noncancerous, ACTH-producing tumors of the pituitary gland that cause Cushings syndrome. Cushings syndrome is a hormonal disorder caused by prolonged exposure of the bodys tissues to high levels of the hormone cortisol. When the tumors are removed, the source of extra ACTH is suddenly gone and a replacement hormone must be taken until the bodys adrenal glands are able to resume their normal production of cortisol. The adrenal glands might not begin to function normally for some time, so a person who has had an ACTH-producing tumor removed and is going off of his or her prescription corticosteroid replacement hormone should be watched carefully for symptoms of adrenal insufficiency.
                
More information is provided in the NIDDK health topic, Cushings Syndrome.
                
Changes in the Pituitary Gland
                
Less commonly, secondary adrenal insufficiency occurs when the pituitary gland either decreases in size or stops producing ACTH. These events can result from
                
- tumors or an infection in the pituitary   - loss of blood flow to the pituitary   - radiation for the treatment of pituitary or nearby tumors   - surgical removal of parts of the hypothalamus   - surgical removal of the pituitary
Question: What causes Growth Failure in Children with Chronic Kidney Disease ?

Answer: Researchers have found that many factors cause growth failure in children with CKD. In addition to removing wastes and extra fluid from the blood, the kidneys perform important functions for a childs growth. Understanding normal kidney function and growth helps families understand what causes growth failure in children with CKD.
                
Normal kidney function helps maintain the
                
- balance of nutrients and minerals, such as calcium and phosphorus, in the blood. These minerals are essential for normal bone growth. The kidneys use a hormone called calcitriol, a form of vitamin D, to help bones absorb the right amount of calcium from the blood. The kidneys also remove extra phosphorus, helping balance phosphorus and calcium levels in the blood.  - bodys ability to use growth hormone. Growth hormone is necessary during childhood to help bones grow and stay healthy. The pituitary gland naturally produces growth hormone, which acts as a messenger to help the body grow. Growth hormone tells the liver to produce another hormone, called insulin-like growth factor, that travels to muscles, organs, and bones and tells them to grow.  - correct levels of erythropoietin in the body. Erythropoietin is a hormone that helps bone marrow make red blood cells.  - proper balance of sodium, also called salt; potassium; and acid-base levels in the blood. Acid-base balance refers to the amount of acid in the blood.
                
Damaged kidneys can slow a childs growth by
                
- causing mineral and bone disorder, which occurs when      - vitamin D is not turned into calcitriol, which starves the bones of calcium.    - phosphorus levels rise in the blood and draw calcium out of the bones and into the blood, causing the bones to weaken.    - creating an imbalance of sodium, potassium, and acid-base levels in the blood, also called acidosis. When blood is not balanced, the body slows growth to focus energy on restoring the balance.  - decreasing appetite. A child with CKD may not be hungry, or he or she may not have the energy to eat, which may lead to poor nutrition and slower growth.  - decreasing the production of erythropoietin. When erythropoietin levels are low, a child may develop anemiaa condition that develops when the blood does not have enough healthy red blood cells to carry oxygen to cells throughout the body. Anemia can cause growth to slow or stop.  - making an abnormally large amount of urine, called polyuria, which disrupts the bodys fluid balance. A child with polyuria loses minerals as well. The body slows growth to make up for the lost fluid and minerals.  - preventing the body from correctly using growth hormone. When the kidneys are damaged, waste builds up in the blood and the body does not properly process growth hormone.
Question: What is (are) Anxiety Disorders ?

Answer: Occasional anxiety is a normal part of life. You might feel anxious when faced with a problem at work, before taking a test, or making an important decision. However, anxiety disorders involve more than temporary worry or fear. For a person with an anxiety disorder, the anxiety does not go away and can get worse over time. These feelings can interfere with daily activities such as job performance, school work, and relationships. (Watch the video to learn about the types of anxiety disorders. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Anxiety Disorders in Older Adults Studies estimate that anxiety disorders affect up to 15 percent of older adults in a given year. More women than men experience anxiety disorders. They tend to be less common among older adults than younger adults. But developing an anxiety disorder late in life is not a normal part of aging. Anxiety disorders commonly occur along with other mental or physical illnesses, including alcohol or substance abuse, which may mask anxiety symptoms or make them worse. In older adults, anxiety disorders often occur at the same time as depression, heart disease, diabetes, and other medical problems. In some cases, these other problems need to be treated before a person can respond well to treatment for anxiety. There are three types of anxiety disorders discussed here. - generalized anxiety disorder  - social phobia  - panic disorder generalized anxiety disorder social phobia panic disorder Generalized Anxiety Disorder (GAD) All of us worry about things like health, money, or family problems. But people with generalized anxiety disorder (GAD) are extremely worried about these and many other things, even when there is little or no reason to worry about them. They are very anxious about just getting through the day. They think things will always go badly. At times, worrying keeps people with GAD from doing everyday tasks.  Learn more about generalized anxiety disorder (GAD).  Social Phobia In social phobia, a person fears being judged by others or of being embarrassed. This fear can get in the way of doing everyday things such as going to work, running errands, or meeting with friends. People who have social phobia often know that they shouldn't be so afraid, but they can't control their fear.  Learn more about social phobia.  Panic Disorder In panic disorder, a person has sudden, unexplained attacks of terror, and often feels his or her heart pounding. During a panic attack, a person feels a sense of unreality, a fear of impending doom, or a fear of losing control. Panic attacks can occur at any time. Learn more about panic disorder.  Anxiety Disorders Are Treatable In general, anxiety disorders are treated with medication, specific types of psychotherapy, or both. Treatment choices depend on the type of disorder, the persons preference, and the expertise of the doctor. If you think you have an anxiety disorder, talk to your doctor.
Question: What are the symptoms of PEHO syndrome ?

Answer: What are the signs and symptoms of PEHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PEHO 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 eye movement 90% Abnormality of movement 90% Abnormality of the palate 90% Cerebral cortical atrophy 90% Cognitive impairment 90% EEG abnormality 90% Epicanthus 90% External ear malformation 90% Full cheeks 90% Hyperreflexia 90% Macrotia 90% Malar flattening 90% Muscular hypotonia 90% Narrow forehead 90% Open mouth 90% Optic atrophy 90% Seizures 90% Short nose 90% Sleep disturbance 90% Tapered finger 90% Visual impairment 90% Anteverted nares 50% Aplasia/Hypoplasia of the cerebellum 50% Edema of the lower limbs 50% Gingival overgrowth 50% Hydrocephalus 50% Limitation of joint mobility 50% Microcephaly 50% Palpebral edema 50% Porencephaly 50% Recurrent respiratory infections 50% Ventriculomegaly 50% Abnormality of the hand - Autosomal recessive inheritance - Cerebellar atrophy - Developmental stagnation - Edema - Feeding difficulties in infancy - Hypsarrhythmia - Infantile encephalopathy - Intellectual disability, profound - Neuronal loss in central nervous system - Peripheral dysmyelination - Progressive microcephaly - Retrognathia - Severe muscular hypotonia - Tented upper lip vermilion - Undetectable visual evoked potentials - 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 Phacomatosis pigmentovascularis ?

Answer: What are the signs and symptoms of phacomatosis pigmentovascularis? Characteristic signs and symptoms of phacomatosis pigmentovascularis (PPV), include port wine stain and pigmentary lesions. The port wine stain and pigmentary lesions are often extensive and can affect several areas of the body, including the face. Examples of associated pigmentary lesions, include: Melanocytic nevi  Epidermal nevi   In addition to the port wine stain and pigmentary lesions, other skin lesions are not uncommon, such as: Nevus anemicus  Cafe-au-lait spots Mongolian spots Nevus of Ota Nevus of Ito Nevus spilus Around half of people with PPV have systemic involvement (i.e., other body systems are affected). Eye conditions such as ocular melanosis (also called ocular melanocytosis) is common. Ocular melanosis refers to a blue-gray pigmentation in the 'white of the eye' or sclerae. This condition often occurs along with nevus of Ota and may affect one or both eyes. The complications of nevus of Ota are glaucoma and melanoma, as a result people with nevus of Ota require careful examination and follow-up by an opthamologist. Other eye conditions reported in PPV include iris hamartomas, iris mammillations, and iris nodules. Some individuals with PPV also have Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Signs and symptoms of Sturge-Weber syndrome include a large port-wine stain facial birthmark, blood vessel abnormalities in the brain called leptomeningeal angiomas, as well as glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Klippel-Trenaunay syndrome is characterized by a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. You can learn more about Sturge-Weber syndrome on our Web site at the following link: http://rarediseases.info.nih.gov/GARD/Condition/7706/Sturge_Weber_syndrome.aspx You can learn more about Klippel-Trenaunay syndrome on the Genetic Home Reference Web site at the following link: http://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome  A variety of other symptoms have been reported in individual cases of PPV (e.g., primary lymphedema, renal angiomas, moyamoya disease, scoliosis, malignant colonic polyposis, hypoplastic larynx, multiple granular cell tumors, and selective IgA deficiency). Conditions associated with PPV can vary greatly from person to person and can be difficult to predict.
Question: How to prevent Parasites - Schistosomiasis ?

Answer: Prevention
    
No vaccine is available.
    
The best way to prevent schistosomiasis is to take the following steps if you are visiting or live in an area where schistosomiasis is transmitted:
    
     - Avoid swimming or wading in freshwater when you are in countries in which schistosomiasis occurs. Swimming in the ocean and in chlorinated swimming pools is safe.
     - Drink safe water. Although schistosomiasis is not transmitted by swallowing contaminated water, if your mouth or lips come in contact with water containing the parasites, you could become infected. Because water coming directly from canals, lakes, rivers, streams, or springs may be contaminated with a variety of infectious organisms, you should either bring your water to a rolling boil for 1 minute or filter water before drinking it. Bring your water to a rolling boil for at least 1 minute will kill any harmful parasites, bacteria, or viruses present. Iodine treatment alone WILL NOT GUARANTEE that water is safe and free of all parasites.
     - Water used for bathing should be brought to a rolling boil for 1 minute to kill any cercariae, and then cooled before bathing to avoid scalding. Water held in a storage tank for at least 1 - 2 days should be safe for bathing.
     - Vigorous towel drying after an accidental, very brief water exposure may help to prevent the Schistosoma parasite from penetrating the skin. However, do not rely on vigorous towel drying alone to prevent schistosomiasis.
    
    
Those who have had contact with potentially contaminated water overseas should see their health care provider after returning from travel to discuss testing.
    
More on: Schistosomiasis in Travelers
   
  
  
   Control
   
In countries where schistosomiasis causes significant disease, control efforts usually focus on:
   
    - reducing the number of infections in people and/or
    - eliminating the snails that are required to maintain the parasite’s life cycle.
   
   
For all species that cause schistosomiasis, improved sanitation could reduce or eliminate transmission of this disease. In some areas with lower transmission levels, elimination of schistosomiasis is considered a "winnable battle" by public health officials.
   
Control measures can include mass drug treatment of entire communities and targeted treatment of school-age children. Some of the problems with control of schistosomiasis include:
   
    - Chemicals used to eliminate snails in freshwater sources may harm other species of animals in the water and, if treatment is not sustained, the snails may return to those sites afterwards.
    - For certain species of the parasite, such as S. japonicum, animals such as cows or water buffalo can also be infected. Runoff from pastures (if the cows are infected) can contaminate freshwater sources.