fenil210/Med-Lamma huggingface dataset:
How to diagnose Chronic fatigue syndrome ?
How is chronic fatigue syndrome diagnosed? No specific diagnostic tests are available. Though there is no definitive diagnostic test, the diagnosis can be made if the patient has a typical history, and no abnormality can be detected on the exam or in the screening tests.    The Committee on the Diagnostic Criteria for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, The Board of Select Populations and the Institute of Medicine proposed a diagnosis criteria which requires that the patient have the following three symptoms: 1. A chronic fatigue that interferes with the daily activities and work,  which is often profound, is of new or definite onset (not lifelong), is not the result of ongoing excessive exertion or other medical conditions, and is not greatly alleviated by rest. 2. Post-exertional malaise. 3. Unrefreshing sleep. At least one of the two following symptoms is also required: 1. Cognitive impairment (imparirment of short memory or concentration). 2. Orthostatic intolerance (Onset of symptoms when standing upright that are improved by lying back down). Other  symptoms include post exertion illness lasting more than 24 hours, muscle pain, pain in the joints, headaces, tender lymph nodes and sore throat.   These symptoms should have persisted or recurred during 6 or more consecutive months of illness and they cannot have first appeared before the fatigue. The following tests are expected to be normal in patients with chronic fatigue syndrome:  Complete blood count with differential count;  Chemistry screen;  Thyroid stimulating hormone level;  Other tests based in the patients symptoms like immunologic tests or serologic tests. + GARD + Chronic fatigue syndrome
What are the treatments for Chronic fatigue syndrome ?
How might chronic fatigue syndrome be treated? Treatment options for chronic fatigue syndrome (CFS) are limited.[9440] Treatment is largely supportive and is focused on the specific symptoms present in each individual. In most cases, symptoms of CFS lessen over time. Many therapies have been tried, but only cognitive behavioral therapy (CBT) and graded exercise therapy reportedly appear to produce meaningful benefit. CBT typically involves a series of one-hour sessions designed to alter beliefs and behaviors that might delay recovery. Graded exercise therapy can be beneficial because prolonged lack of exercise may worsen the symptoms of the condition and should be discouraged.[9440] Gradual introduction of regular aerobic exercise, such as walking, swimming, cycling, or jogging, under close medical supervision may reduce fatigue and improve physical function. The goal is to have 30 minutes of light exercise five times a week. To avoid overexertion it is recommended to set a target heart rate range, generally <100 beats per minute. Graded exercise should be always supervised by a physical therapist or exercise therapist. In some studies, women with this condition were found to have low normal fitness on treadmill testing with no indication of heart or lung problems. Maximal testing did not result in worse fatigue or other symptoms. Because many people who have CFS are also depressed, treating the depression can make it easier to cope with the problems associated with CFS. Low doses of some antidepressants may help improve sleep and relieve pain.[6269] A number of medications, special diets and vitamin supplements have been evaluated in individuals with CFS, but none have been proven effective. Although there have been a number of viruses that were initially reported to cause CFS, additional studies have not proven this.[9440] Trials of antiviral agents have been ineffective in relieving the symptoms of CFS. Several clinical trials aiming to find effective treatment are currently ongoing. + GARD + Chronic fatigue syndrome
What are the symptoms of Porokeratosis, disseminated superficial actinic 2 ?
What are the signs and symptoms of Porokeratosis, disseminated superficial actinic 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 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) Aplasia/Hypoplasia of the skin 90% Hyperkeratosis 90% Hypohidrosis 90% Cutaneous photosensitivity 50% Pruritus 50% Neoplasm of the skin 7.5% 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. + GARD + Porokeratosis, disseminated superficial actinic 2
What are the symptoms of Thyrotoxic periodic paralysis ?
What are the signs and symptoms of Thyrotoxic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotoxic periodic paralysis. 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) Goiter - Heterogeneous - Hyperthyroidism - Hypokalemia - Muscle weakness - Palpitations - Periodic paralysis - Rhabdomyolysis - 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. + GARD + Thyrotoxic periodic paralysis
What is (are) Methylmalonic acidemia with homocystinuria, type cblC ?
Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). As a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. Treatment should begin as soon as possible. In general, treatment may involve a low-protein diet, medical formula/drink, regular meals, careful monitoring, and vitamin B12 shots. Most US states now offer newborn screening for MMA+HCU, allowing for early detection and treatment. However even with early treatment, most children with MMA+HCU experience some symptoms affecting vision, growth, and learning. MMA+HCU cblC type is caused by changes in the MMACHC gene. It is inherited in an autosomal recessive fashion. + GARD + Methylmalonic acidemia with homocystinuria, type cblC
What are the symptoms of Dwarfism stiff joint ocular abnormalities ?
What are the signs and symptoms of Dwarfism stiff joint ocular abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism stiff joint ocular abnormalities. 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) Autosomal dominant inheritance - Cataract - Delayed ossification of carpal bones - Disproportionate short-limb short stature - Glaucoma - Hypermetropia - Joint stiffness - Retinal detachment - Severe short stature - Short lower limbs - Short phalanx of finger - Thickened skin - 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. + GARD + Dwarfism stiff joint ocular abnormalities
What is (are) Congenitally corrected transposition of the great arteries ?
Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers. Click here to visit MayoClinic.com and view an image of this heart defect. While the oxygen-poor blood still flows to the lungs, and oxygen-rich blood still flows out to nourish the body, other heart problems (such as septal defects, pulmonary stenosis, tricuspid regurgitation, and heart block) are often associated with this defect and require treatment. + GARD + Congenitally corrected transposition of the great arteries
What causes Congenitally corrected transposition of the great arteries ?
What causes congenitally corrected transposition of the great arteries? Currently the cause of congenitally corrected transposition of the great arteries is not known. Limited data suggests that air pollutants and hair dye may act as environmental risk factors for this rare defect. Also, having a family history of this heart defect is a risk factor. It has been estimated that the recurrence risk in siblings is around 3% to 5%. + GARD + Congenitally corrected transposition of the great arteries
What are the symptoms of Cerebral sarcoma ?
What are the signs and symptoms of Cerebral sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sarcoma. 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) Autosomal dominant inheritance - Fibrosarcoma - 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. + GARD + Cerebral sarcoma
What is (are) Systemic capillary leak syndrome ?
Systemic capillary leak syndrome is a condition in which fluid and proteins leak out of tiny blood vessels and flow into surrounding tissues, resulting in dangerously low blood pressure. Attacks frequently last for several days and require emergency care. Most cases of capillary leak occur randomly in previously healthy adults. Treatment involves preventing attacks using medications which may decrease capillary leakage and interfere with hormones that may cause future leakage. Once an attack is underway, treatment is aimed at controlling blood pressure to maintain blood flow to vital organs and prevention of swelling due to fluid accumulation. Capillary leak syndrome may lead to multiple organ failure, shock and even death. + GARD + Systemic capillary leak syndrome
What are the symptoms of Systemic capillary leak syndrome ?
What are the signs and symptoms of Systemic capillary leak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic capillary leak 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) Edema of the lower limbs 90% Leukocytosis 90% Abdominal pain 50% Abnormal immunoglobulin level 50% Diarrhea 50% Hypotension 50% Impaired temperature sensation 50% Myalgia 50% Pancreatitis 50% Pulmonary edema 50% Sinusitis 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Abnormality of the renal tubule 7.5% Multiple myeloma 7.5% Renal insufficiency 7.5% Seizures 7.5% Sudden cardiac death 7.5% Thrombophlebitis 7.5% 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. + GARD + Systemic capillary leak syndrome
What are the treatments for Systemic capillary leak syndrome ?
How might systemic capillary leak syndrome be treated? Unfortunately, there is no cure for systemic capillary leak syndrome at this time.  However, recent studies suggest that taking medication known as beta-adrenergic agonists (including terbutaline) or undergoing immunoglobulin intravenous (IV) therapy may reduce the frequency of attacks and may increase survival in individuals affected with this condition. + GARD + Systemic capillary leak syndrome
What is (are) SHORT syndrome ?
SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay. Other features commonly present include a triangular face, small chin with a dimple, loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech. It is caused by mutations in the PIK3R1 gene. Inheritance is autosomal dominant. Treatment focuses on the specific symptoms present in each individual. + GARD + SHORT syndrome
Is SHORT syndrome inherited ?
How is SHORT syndrome inherited? SHORT syndrome is inherited in an autosomal dominant  pattern. For conditions with autosomal dominant inheritance, one abnormal copy of the causative gene in each cell is sufficient to cause signs and symptoms of the condition. The abnormal copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected individual. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected. + GARD + SHORT syndrome
How to diagnose SHORT syndrome ?
How is SHORT syndrome diagnosed? There is no formal criteria for diagnosis yet. The term SHORT syndrome was first created to reflect several of the features of the original reported cases: Short stature, Hyperextensibility, Ocular depression (deeply set eyes), Rieger anomaly, and Teething delay. However, it is now recognized that all of these five features are neither required to make the diagnosis nor necessarily the most specific features of SHORT syndrome. The features most consistently observed in SHORT syndrome include: Intrauterine growth restriction (IUGR) Short stature Partial lipodystrophy Facial characteristics: Face with triangular shape, prominent forehead, deep-set eyes, nose with a narrow low-hanging tip and thin nasal alae, small chin with a central dimple and large ears that are low-set. Other frequent features include: Axenfeld-Rieger anomaly or related eye anomalies Delayed dentition Diabetes. In general, the facial features allow to make a suspicion of the diagnosis. Diagnosis is confirmed with the genetic testing showing a mutation in the PIK3R1 gene. + GARD + SHORT syndrome
What is (are) Ehlers-Danlos syndrome, progeroid type ?
Ehlers-Danlos syndrome progeroid type is a genetic disorder of the connective tissue, which is the material between the cells of the body that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually show up by childhood or adolescence. Like people with other types of Ehlers-Danlos syndrome, individuals with the progeroid form have unusually flexible joints, loose elastic skin, and easy scarring. Features that are unique to this type include sparse scalp hair and eyebrows, and loose elastic skin on the face; these features cause affected individuals to look older than their age. Additional symptoms may include bone weakness, weak muscle tone, mild intellectual disability, and delayed growth in affected children. The progeroid type of Ehlers-Danlos syndrome is caused by mutations in the B4GALT7 gene and is inherited in an autosomal recessive pattern. + GARD + Ehlers-Danlos syndrome, progeroid type
What causes Ehlers-Danlos syndrome, progeroid type ?
What causes Ehlers-Danlos syndrome progeroid type? Ehlers-Danlos syndrome progeroid type is caused by changes (mutations) in both of an individual's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main protein in connective tissue). When not enough enzyme is made by the B4GALT7 genes, collagen is not formed correctly in connective tissue. The symptoms of the disorder are caused by weak connective tissue. Researchers are still studying exactly how mutations in the B4GALT7 gene cause the signs and symptoms of Ehlers-Danlos syndrome progeroid type. + GARD + Ehlers-Danlos syndrome, progeroid type
Is Ehlers-Danlos syndrome, progeroid type inherited ?
How is Ehlers-Danlos syndrome progeroid type inherited? Ehlers-Danlos syndrome progeroid type is inherited in an autosomal recessive pattern. This means that an individual must have two non-functional copies of the B4GALT7 gene to be affected with the condition. One copy is inherited from each parent. If an individual has only one non-functional B4GALT7 gene (such as each parent), he or she is a "carrier". Carriers do not typically show any signs or symptoms of a recessive condition. When two carriers for a recessive condition have children, with each pregnancy there is a 25% (1 in 4) risk for the child to be affected, a 50%  (1 in 2) risk for the child to be a carrier (like each parent) and a 25% risk that the child will be unaffected and also not be a carrier. An individual with a recessive condition will generally have unaffected children, except in the rare circumstance where his or her partner is a carrier of a nonfunctional B4GALT7 gene. + GARD + Ehlers-Danlos syndrome, progeroid type
What are the treatments for Ehlers-Danlos syndrome, progeroid type ?
How might Ehlers-Danlos syndrome progeroid type be treated? Individuals with Ehlers-Danlos Syndrome progeroid type can benefit from a variety of treatments depending on their symptoms. Affected children with weak muscle tone and delayed development might benefit from physiotherapy to improve muscle strength and coordination. Affected individuals with joint pain might benefit from anti-inflammatory drugs. Lifestyle changes or precautions during exercise or intense physical activity may be advised to reduce the chance of accidents to the skin and bone. It is recommended that affected individuals discuss treatment options with their healthcare provider. + GARD + Ehlers-Danlos syndrome, progeroid type
What is (are) Exogenous ochronosis ?
Exogenous ochronosis refers to the bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due to exposure to various substances. It has been reported most commonly with topical application of hydroquinones to the skin. The discoloration may be caused by an effect on tyrosinase (an enzyme located in melanocytes, which are skin cells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria. + GARD + Exogenous ochronosis
What is (are) Chandler's syndrome ?
Chandler's syndrome is a rare eye disorder in which the single layer of cells lining the interior of the cornea proliferates, causing changes within the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). This condition is one of three syndromes, along with progressive iris atrophy and Cogan-Reese syndrome, that make up the iridocorneal endothelial (ICE) syndrome. In most cases, only one eye is affected. Symptoms may include reduced vision and pain. Chandler's syndrome more often affects females and usually presents sometime during middle age. The cause of this disease is unknown. + GARD + Chandler's syndrome
What causes Chandler's syndrome ?
What causes Chandler's syndrome? The underlying cause of Chandler's syndrome is unknown. Some researchers suspect that inflammation or chronic viral infection may play a role in the development of this condition.  Chandler's syndrome develops when the endothelium, the single layer of cells lining the inside of the surface of the cornea, fails to pump the aqueous humor from the cornea. This allows fluid to accumulate in the cornea (corneal edema), leading to blurred vision. + GARD + Chandler's syndrome
Is Chandler's syndrome inherited ?
Is Chandler's syndrome inherited? While the cause of Chandler's syndrome is unknown, at this time there is no evidence that it is inherited (hereditary). + GARD + Chandler's syndrome