umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Jansen type metaphyseal chondrodysplasia ?

Answer: What are the signs and symptoms of Jansen type metaphyseal chondrodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Jansen type metaphyseal chondrodysplasia. 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) Craniofacial hyperostosis 90% Frontal bossing 90% Hypertelorism 90% Micromelia 90% Proptosis 90% Abnormality of calcium-phosphate metabolism 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Hypercalcemia 50% Hypoparathyroidism 50% Increased bone mineral density 50% Narrow chest 50% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Bowing of the long bones - Brachycephaly - Choanal atresia - Choanal stenosis - Clubbing of fingers - Elevated alkaline phosphatase - Hip contracture - Hypercalciuria - Hyperphosphaturia - Hypophosphatemia - Knee flexion contracture - Metaphyseal chondrodysplasia - Metaphyseal cupping - Misalignment of teeth - Nephrocalcinosis - Osteopenia - Pathologic fracture - Prominent supraorbital arches in adult - Severe short stature - Short long bone - Short ribs - Thick skull base - Waddling gait - 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 Gerstmann-Straussler-Scheinker disease ?

Answer: What are the signs and symptoms of Gerstmann-Straussler-Scheinker disease? Signs and symptoms of Gerstmann-Straussler-Scheinker disease generally develop between ages 35 and 50 years. Affected people may experience: Progressive ataxia, including clumsiness, unsteadiness, and difficulty walking Cognitive disfunction leading to bradyphrenia (slowness of thought processing) and dementia Dysarthria (slurred speech) Nystagmus Spasticity (rigid muscle tone) Visual disturbances, sometimes leading to blindness Lack of coordination in swallowing Deafness Parkinsonian features (present in some families) The Human Phenotype Ontology provides the following list of signs and symptoms for Gerstmann-Straussler-Scheinker 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) Adult onset - Aggressive behavior - Apraxia - Areflexia - Autosomal dominant inheritance - Bradykinesia - Cerebellar atrophy - Dementia - Depression - Dysarthria - Emotional lability - Gait ataxia - Hyperreflexia - Impaired smooth pursuit - Limb ataxia - Lower limb muscle weakness - Memory impairment - Myoclonus - Neurofibrillary tangles - Parkinsonism - Perseveration - Personality changes - Phenotypic variability - Psychosis - Rapidly progressive - Rigidity - Spasticity - Tremor - Truncal ataxia - Weight loss - 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: Who is at risk for Oxygen Therapy? ?

Answer: Oxygen therapy can cause complications and side effects. These problems might include a dry or bloody nose, skin irritation from the nasal cannula or face mask, fatigue (tiredness), and morning headaches.
                
If these problems persist, tell your doctor and home equipment provider. Depending on the problem, your doctor may need to change your oxygen flow rate or the length of time you're using the oxygen.
                
If nose dryness is a problem, your doctor may recommend a nasal spray or have a humidifier added to your oxygen equipment.
                
If you have an uncomfortable nasal cannula or face mask, your home equipment provider can help you find a device that fits better. Your provider also can recommend over-the-counter gels and devices that are designed to lessen skin irritation.
                
Complications from transtracheal oxygen therapy can be more serious. With this type of oxygen therapy, oxygen is delivered through a tube inserted into your windpipe through the front of your neck.
                
With transtracheal oxygen therapy:
                
Mucus balls might develop on the tube inside the windpipe. Mucus balls tend to form as a result of the oxygen drying out the airways. Mucus balls can cause coughing and clog the windpipe or tube.
                
Problems with the tube slipping or breaking.
                
Infection.
                
Injury to the lining of the windpipe.
                
Proper medical care and correct handling of the tube and other supplies may reduce the risk of complications.
                
Other Risks
                
In certain people, oxygen therapy may suppress the drive to breathe, affecting how well the respiratory system works. This is managed by adjusting the oxygen flow rate.
                
Oxygen poses a fire risk, so you'll need to take certain safety steps. Oxygen itself isn't explosive, but it can worsen a fire. In the presence of oxygen, a small fire can quickly get out of control. Also, the cylinder that compressed oxygen gas comes in might explode if exposed to heat.
                
Your home equipment provider will give you a complete list of safety steps you'll need to take at home and when out in public.
                
For example, when you're not using the oxygen, keep it in an airy room. Never store compressed oxygen gas cylinders and liquid oxygen containers in small, enclosed places, such as in closets, behind curtains, or under clothes.
                
Oxygen containers let off small amounts of oxygen. These small amounts can build up to harmful levels if they're allowed to escape into small spaces.
Question: What are the genetic changes related to familial thoracic aortic aneurysm and dissection ?

Answer: Mutations in any of several genes are associated with familial TAAD. Mutations in the ACTA2 gene have been identified in 14 to 20 percent of people with this disorder, and TGFBR2 gene mutations have been found in 2.5 percent of affected individuals. Mutations in several other genes account for smaller percentages of cases.  The ACTA2 gene provides instructions for making a protein called smooth muscle alpha ()-2 actin, which is found in vascular smooth muscle cells. Layers of these cells are found in the walls of the aorta and other arteries. Within vascular smooth muscle cells, smooth muscle -2 actin forms the core of structures called sarcomeres, which are necessary for muscles to contract. This ability to contract allows the arteries to maintain their shape instead of stretching out as blood is pumped through them.  ACTA2 gene mutations that are associated with familial TAAD change single protein building blocks (amino acids) in the smooth muscle -2 actin protein. These changes likely affect the way the protein functions in smooth muscle contraction, interfering with the sarcomeres' ability to prevent the arteries from stretching. The aorta, where the force of blood pumped directly from the heart is most intense, is particularly vulnerable to this stretching. Abnormal stretching of the aorta results in the aortic dilatation, aneurysms, and dissections that characterize familial TAAD.  TGFBR2 gene mutations are also associated with familial TAAD. The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-) receptor type 2. This receptor transmits signals from the cell surface into the cell through a process called signal transduction. Through this type of signaling, the environment outside the cell affects activities inside the cell. In particular, the TGF- receptor type 2 protein helps control the growth and division (proliferation) of cells and the process by which cells mature to carry out specific functions (differentiation). It is also involved in the formation of the extracellular matrix, an intricate lattice of proteins and other molecules that forms in the spaces between cells.  TGFBR2 gene mutations alter the receptor's structure, which disturbs signal transduction. The disturbed signaling can impair cell growth and development. It is not known how these changes result in the specific aortic abnormalities associated with familial TAAD.  Mutations in other genes, some of which have not been identified, are also associated with familial TAAD.
Question: How to diagnose Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?

Answer: Imaging tests are used to detect (find) osteosarcoma and MFH.
	                        Imaging tests are done before the biopsy. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.    -   X-ray : An x-ray of the organs and bones inside the body. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body.     -   CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.    -   MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI).
	                    
	                    
	                    	A biopsy is done to diagnose osteosarcoma.
	                   		Cells and tissues are removed during a biopsy so they can be viewed under a microscope by a pathologist to check for signs of cancer. It is important that the biopsy be done by a surgeon who is an expert in treating cancer of the bone. It is best if that surgeon is also the one who removes the tumor. The biopsy and the surgery to remove the tumor are planned together. The way the biopsy is done affects which type of surgery can be done later.    The type of biopsy that is done will be based on the size of the tumor and where it is in the body. There are two types of biopsy that may be used:         -   Core biopsy : The removal of tissue using a wide needle.    -   Incisional biopsy : The removal of part of a lump or a sample of tissue that doesn't look normal.         The following test may be done on the tissue that is removed:          -   Light and electron microscopy : A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells.
Question: What are the symptoms of Spranger Schinzel Myers syndrome ?

Answer: What are the signs and symptoms of Spranger Schinzel Myers syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spranger Schinzel Myers 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) Ablepharon - Absent eyelashes - Agenesis of corpus callosum - Autosomal recessive inheritance - Bifid uterus - Calcaneovalgus deformity - Camptodactyly - Cataract - Cerebellar hypoplasia - Choroid plexus cyst - Cleft palate - Cleft upper lip - Clinodactyly - Cryptorchidism - Dandy-Walker malformation - Decreased fetal movement - Finger syndactyly - Generalized edema - Hydranencephaly - Hypertelorism - Intrauterine growth retardation - Joint contracture of the hand - Lissencephaly - Macrotia - Microcephaly - Micromelia - Microphthalmia - Patent ductus arteriosus - Patent foramen ovale - Polyhydramnios - Proptosis - Pterygium - Pulmonary hypoplasia - Radial deviation of finger - Renal agenesis - Rocker bottom foot - Short neck - Short umbilical cord - Sloping forehead - Small placenta - Spina bifida - Stillbirth - Thick lower lip vermilion - Toe syndactyly - Transposition of the great arteries - Ventricular septal defect - Yellow subcutaneous tissue covered by thin, scaly 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.
Question: What is (are) malignant migrating partial seizures of infancy ?

Answer: Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. Although affected individuals may develop normally at first, progression stalls and skills decline when seizures begin; as a result, affected individuals have profound developmental delay.  The seizures in MMPSI are described as partial (or focal) because the seizure activity occurs in regions of the brain rather than affecting the entire brain. Seizure activity can appear in multiple locations in the brain or move (migrate) from one region to another during an episode. Depending on the region affected, seizures can involve sudden redness and warmth (flushing) of the face; drooling; short pauses in breathing (apnea); movement of the head or eyes to one side; twitches in the eyelids or tongue; chewing motions; or jerking of an arm, leg, or both on one side of the body. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking (tonic-clonic seizure). Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.  Initially, the seizures associated with MMPSI are relatively infrequent, occurring every few weeks. Within a few months of the seizures starting, though, the frequency increases. Affected individuals can have clusters of five to 30 seizures several times a day. Each seizure typically lasts seconds to a couple of minutes, but they can be prolonged (classified as status epilepticus). In some cases, the seizure activity may be almost continuous for several days. After a year or more of persistent seizures, the episodes become less frequent.  Seizures can affect growth of the brain and lead to a small head size (microcephaly). The problems with brain development can also cause profound developmental delay and intellectual impairment. Affected babies often lose the mental and motor skills they developed after birth, such as the ability to make eye contact and control their head movement. Many have weak muscle tone (hypotonia) and become "floppy." If seizures can be controlled for a short period, development may improve. Some affected children learn to reach for objects or walk. However, most children with this condition do not develop language skills.  Because of the serious health problems caused by MMPSI, many affected individuals do not survive past infancy or early childhood.
Question: What are the symptoms of Waardenburg syndrome type 2 ?

Answer: What are the signs and symptoms of Waardenburg syndrome type 2? In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. Most have a hearing impairment or are deaf and also have heterochromia of the iris (two different colored eyes). Other features of Waardenburg syndrome, including white forelock, premature graying of the hair, and irregular depigmentation of the skin, are less common in this type. The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome 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) Heterochromia iridis 90% Premature graying of hair 90% Sensorineural hearing impairment 90% Hypopigmented skin patches 50% White forelock 50% Abnormality of the kidney 7.5% Abnormality of the pulmonary artery 7.5% Aganglionic megacolon 7.5% Ptosis 7.5% Telecanthus 7.5% Albinism - Autosomal dominant inheritance - Congenital sensorineural hearing impairment - Heterogeneous - Hypoplastic iris stroma - Partial albinism - Synophrys - Underdeveloped nasal alae - Variable expressivity - White eyebrow - White eyelashes - Wide nasal bridge - 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) Vasculitis ?

Answer: Vasculitis (vas-kyu-LI-tis) is a condition that involves inflammation in the blood vessels. The condition occurs if your immune system attacks your blood vessels by mistake. This may happen as the result of an infection, a medicine, or another disease or condition.
                
Inflammation refers to the bodys response to injury, including injury to the blood vessels. Inflammation may involve pain, redness, warmth, swelling, and loss of function in the affected tissues.
                
In vasculitis, inflammation can lead to serious problems. Complications depend on which blood vessels, organs, or other body systems are affected.
                
Overview
                
Vasculitis can affect any of the body's blood vessels. These include arteries, veins, and capillaries. Arteries carry blood from your heart to your body's organs. Veins carry blood from your organs and limbs back to your heart. Capillaries connect the small arteries and veins.
                
If a blood vessel is inflamed, it can narrow or close off. This limits or prevents blood flow through the vessel. Rarely, the blood vessel will stretch and weaken, causing it to bulge. This bulge is known as an aneurysm (AN-u-rism).
                
Vasculitis
                

                
The disruption in blood flow caused by inflammation can damage the body's organs. Signs and symptoms depend on which organs have been damaged and the extent of the damage.
                
Typical symptoms of inflammation, such as fever and general aches and pains, are common among people who have vasculitis.
                
Outlook
                
There are many types of vasculitis, but overall the condition is rare. If you have vasculitis, the outlook depends on:
                
The type of vasculitis you have
                
Which organs are affected
                
How quickly the condition worsens
                
The severity of the condition
                
Treatment often works well if its started early. In some cases, vasculitis may go into remission. "Remission" means the condition isn't active, but it can come back, or "flare," at any time.
                
Sometimes vasculitis is chronic (ongoing) and never goes into remission. Long-term treatment with medicines often can control the signs and symptoms of chronic vasculitis.
                
Rarely, vasculitis doesn't respond well to treatment. This can lead to disability and even death.
                
Much is still unknown about vasculitis. However, researchers continue to learn more about the condition and its various types, causes, and treatments.