umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to cytochrome P450 oxidoreductase deficiency ?

Answer: Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene. This gene provides instructions for making the enzyme cytochrome P450 oxidoreductase, which plays a critical role in the formation of steroid hormones. This group of hormones includes testosterone and estrogen, which are essential for normal sexual development and reproduction; corticosteroids, which are involved in the body's response to stress; and aldosterone, which helps regulate the body's salt and water balance.  Mutations in the POR gene reduce the activity of cytochrome P450 oxidoreductase, which disrupts the production of steroid hormones. Changes in sex hormones such as testosterone and estrogen lead to problems with sexual development before birth and at puberty. In a woman who is pregnant with an affected fetus, abnormal levels of sex hormones in the fetus may cause her to have mild, temporary signs and symptoms of cytochrome P450 oxidoreductase deficiency.  Cytochrome P450 oxidoreductase is also needed for the production of cholesterol. This substance has many essential functions both before and after birth, including roles in the production of steroid hormones and in the formation and growth of bones. Mutations in the POR gene can disrupt the production of cholesterol, which likely impairs normal bone formation in the severe form of cytochrome P450 oxidoreductase deficiency. Studies suggest that a molecule called retinoic acid also plays a role in the skeletal abnormalities found in severe cases. The breakdown of retinoic acid requires cytochrome P450 oxidoreductase; if a shortage of cytochrome P450 oxidoreductase prevents retinoic acid from being broken down, the resulting excess of that molecule can stimulate the abnormal growth and fusion of bones.  The skeletal abnormalities found in the severe form of this disorder can also result from mutations in another gene, FGFR2. Some researchers use the name Antley-Bixler syndrome to describe these features, whether they are caused by mutations in the POR gene or in the FGFR2 gene. Others use the name Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis for cases caused by POR gene mutations, reserving the name Antley-Bixler syndrome for cases caused by FGFR2 gene mutations.
Question: What causes Down syndrome ?

Answer: What causes Down syndrome? There are 3 possible genetic causes of Down syndrome: Trisomy 21. Most often, Down syndrome is caused by an extra chromosome 21 in all cells of the affected person.  In these cases, the chromosome 21 pair fails to separate during the formation of an egg (or sperm); this is called "nondisjunction." When the egg with 2 copies of chromosome 21 unites with a normal sperm with one copy of chromosome 21 to form an embryo, the resulting embryo has 3 copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby's body, causing the features of Down syndrome. The cause of nondisjunction is unknown, but research has shown that it happens more often as women age. Nondisjunction is not known to be caused by anything in the environment or anything that parents do (or don't do) before or during pregnancy. Mosaic trisomy 21. In about 1-2% of cases, only some of the cells in a person's body have an extra chromosome 21; this is called "mosaic trisomy 21".  In this situation, the fertilized egg may have the right number of chromosomes, but due to a cell division error early in the development of the embryo, some cells "acquire" an extra chromosome 21. A person with mosaic trisomy 21 typically has 46 chromosomes in some cells, and 47 chromosomes (with the extra chromosome 21) in others. The features and severity in people with mosaic trisomy 21 may vary widely.  Translocation trisomy 21. About 3-4% of people with Down syndrome have cells that contain 46 chromosomes; however, there is extra chromosome 21 material attached (translocated ) onto another chromosome.  For parents of a child with Down syndrome due to a translocation, there may be an increased chance of Down syndrome in future pregnancies. This is because one of the two parents may be a carrier of a balanced translocation. However, not all parents of people with translocation trisomy 21 have a translocation. Regardless of the type of Down syndrome a person has, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells. This extra genetic material disrupts the normal course of development, causing the characteristic features of Down syndrome.
Question: What are the symptoms of Acrofacial dysostosis Catania type ?

Answer: What are the signs and symptoms of Acrofacial dysostosis Catania type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrofacial dysostosis Catania type. 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% Abnormality of the philtrum 90% Brachydactyly syndrome 90% Cognitive impairment 90% Finger syndactyly 90% High forehead 90% Hypoplasia of the zygomatic bone 90% Microcephaly 90% Short nose 90% Short palm 90% Short stature 90% Abnormality of periauricular region 50% Cryptorchidism 50% Delayed skeletal maturation 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Single transverse palmar crease 50% Clinodactyly of the 5th finger 7.5% Coarse hair 7.5% Displacement of the external urethral meatus 7.5% Facial cleft 7.5% Hernia of the abdominal wall 7.5% Pectus excavatum 7.5% Premature birth 7.5% Reduced number of teeth 7.5% Spina bifida occulta 7.5% Webbed neck 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.
Question: How to diagnose ARDS ?

Answer: Your doctor will diagnose ARDS based on your medical history, a physical exam, and test results.
                
Medical History
                
Your doctor will ask whether you have or have recently had conditions that could lead to ARDS. For a list of these conditions, go to "Who Is at Risk for ARDS?"
                
Your doctor also will ask whether you have heart problems, such as heart failure. Heart failure can cause fluid to build up in your lungs.
                
Physical Exam
                
ARDS may cause abnormal breathing sounds, such as crackling. Your doctor will listen to your lungs with a stethoscope to hear these sounds.
                
He or she also will listen to your heart and look for signs of extra fluid in other parts of your body. Extra fluid may mean you have heart or kidney problems.
                
Your doctor will look for a bluish color on your skin and lips. A bluish color means your blood has a low level of oxygen. This is a possible sign of ARDS.
                
Diagnostic Tests
                
You may have ARDS or another condition that causes similar symptoms. To find out, your doctor may recommend one or more of the following tests.
                
Initial Tests
                
The first tests done are:
                
An arterial blood gas test. This blood test measures the oxygen level in your blood using a sample of blood taken from an artery. A low blood oxygen level might be a sign of ARDS.
                
Chest x ray. This test creates pictures of the structures in your chest, such as your heart, lungs, and blood vessels. A chest x ray can show whether you have extra fluid in your lungs.
                
Blood tests, such as a complete blood count, blood chemistries, and blood cultures. These tests help find the cause of ARDS, such as an infection.
                
A sputum culture. This test is used to study the spit you've coughed up from your lungs. A sputum culture can help find the cause of an infection.
                
Other Tests
                
Other tests used to diagnose ARDS include:
                
Chest computed tomography (to-MOG-rah-fee) scan, or chest CT scan. This test uses a computer to create detailed pictures of your lungs. A chest CT scan may show lung problems, such as fluid in the lungs, signs of pneumonia, or a tumor.
                
Heart tests that look for signs of heart failure. Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. This condition can cause fluid to build up in your lungs.
Question: What is (are) multiple sulfatase deficiency ?

Answer: Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile.  The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system (leukodystrophy), which can contribute to movement problems, seizures, developmental delay, and slow growth. They also have dry, scaly skin (ichthyosis) and excess hair growth (hypertrichosis). Skeletal abnormalities can include abnormal side-to-side curvature of the spine (scoliosis), joint stiffness, and dysostosis multiplex, which refers to a specific pattern of skeletal abnormalities seen on x-ray. Individuals with the neonatal type typically have facial features that can be described as "coarse." Affected individuals may also have hearing loss, heart malformations, and an enlarged liver and spleen (hepatosplenomegaly). Many of the signs and symptoms of neonatal multiple sulfatase deficiency worsen over time.  The late-infantile type is the most common form of multiple sulfatase deficiency. It is characterized by normal cognitive development in early childhood followed by a progressive loss of mental abilities and movement (psychomotor regression) due to leukodystrophy or other brain abnormalities. Individuals with this form of the condition do not have as many features as those with the neonatal type, but they often have ichthyosis, skeletal abnormalities, and coarse facial features.  The juvenile type is the rarest form of multiple sulfatase deficiency. Signs and symptoms of the juvenile type appear in mid- to late childhood. Affected individuals have normal early cognitive development but then experience psychomotor regression; however, the regression in the juvenile type usually occurs at a slower rate than in the late-infantile type. Ichthyosis is also common in the juvenile type of multiple sulfatase deficiency.  Life expectancy is shortened in individuals with all types of multiple sulfatase deficiency. Typically, affected individuals survive only a few years after the signs and symptoms of the condition appear, but life expectancy varies depending on the severity of the condition and how quickly the neurological problems worsen.
Question: What are the genetic changes related to monilethrix ?

Answer: Monilethrix is caused by mutations in one of several genes. Mutations in the KRT81 gene, the KRT83 gene, the KRT86 gene, or the DSG4 gene account for most cases of monilethrix. These genes provide instructions for making proteins that give structure and strength to strands of hair.  Hair growth occurs in the hair follicle, a specialized structure in the skin. As the cells of the hair follicle mature to take on specialized functions (differentiate), they produce particular proteins and form the different compartments of the hair follicle and the hair shaft. As the cells in the hair follicle divide, the hair shaft is pushed upward and extends beyond the skin.  The KRT81, KRT83, and KRT86 genes provide instructions for making proteins known as keratins. Keratins are a group of tough, fibrous proteins that form the structural framework of cells that make up the hair, skin, and nails. The KRT81 gene provides instructions for making the type II hair keratin K81 protein (K81); the KRT83 gene provides instruction for making the type II hair keratin K83 protein (K83); and the KRT86 gene provides instructions for making the type II hair keratin K86 protein (K86). The K81, K83, and K86 proteins are found in cells of the inner compartment of the hair shaft known as the cortex. These proteins give hair its strength and elasticity.  The DSG4 gene provides instructions for making a protein called desmoglein 4 (DSG4). This protein is found in specialized structures called desmosomes that are located in the membrane surrounding certain cells. These structures help attach cells to one another and play a role in communication between cells. The DSG4 protein is found in particular regions of the hair follicle, including the hair shaft cortex. Desmosomes in these regions provide strength to the hair and are thought to play a role in communicating the signals for cells to differentiate to form the hair shaft.  In people with monilethrix, the cortex of the affected hair shaft appears abnormal. However, it is unclear how mutations in the KRT81, KRT83, KRT86, or DSG4 genes are related to the abnormality in the cortex or the beaded appearance of the hair.  Some people with monilethrix do not have a mutation in one of these genes. These individuals may have a genetic change in another gene, or the cause of the condition may be unknown.
Question: What is (are) nonsyndromic hearing loss ?

Answer: Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.  Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified. The various inheritance patterns of nonsyndromic hearing loss are described in more detail below.  The characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The term "deafness" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones.  Most forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss.  Depending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.
Question: What is (are) Fanconi anemia ?

Answer: Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.  The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infections; and platelets, which are necessary for normal blood clotting. Approximately 90 percent of people with Fanconi anemia have impaired bone marrow function that leads to a decrease in the production of all blood cells (aplastic anemia). Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may also develop myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally.  More than half of people with Fanconi anemia have physical abnormalities. These abnormalities can involve irregular skin coloring such as unusually light-colored skin (hypopigmentation) or caf-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Other possible symptoms of Fanconi anemia include malformed thumbs or forearms and other skeletal problems including short stature; malformed or absent kidneys and other defects of the urinary tract; gastrointestinal abnormalities; heart defects; eye abnormalities such as small or abnormally shaped eyes; and malformed ears and hearing loss. People with this condition may have abnormal genitalia or malformations of the reproductive system. As a result, most affected males and about half of affected females cannot have biological children (are infertile). Additional signs and symptoms can include abnormalities of the brain and spinal cord (central nervous system), including increased fluid in the center of the brain (hydrocephalus) or an unusually small head size (microcephaly).  Individuals with Fanconi anemia have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML) or tumors of the head, neck, skin, gastrointestinal system, or genital tract. The likelihood of developing one of these cancers in people with Fanconi anemia is between 10 and 30 percent.
Question: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?

Answer: Too much sodium in a person's diet can be harmful because it causes blood to hold fluid. People with CKD need to be careful not to let too much fluid build up in their bodies. The extra fluid raises blood pressure and puts a strain on the heart and kidneys. A dietitian can help people find ways to reduce the amount of sodium in their diet. Nutrition labels provide information about the sodium content in food. The U.S. Food and Drug Administration advises that healthy people should limit their daily sodium intake to no more than 2,300 milligrams (mg), the amount found in 1 teaspoon of table salt. People who are at risk for a heart attack or stroke because of a condition such as high blood pressure or kidney disease should limit their daily sodium intake to no more than 1,500 mg. Choosing sodium-free or low-sodium food products will help them reach that goal.
                
Sodium is found in ordinary table salt and many salty seasonings such as soy sauce and teriyaki sauce. Canned foods, some frozen foods, and most processed meats have large amounts of salt. Snack foods such as chips and crackers are also high in salt.
                
Alternative seasonings such as lemon juice, salt-free seasoning mixes, and hot pepper sauce can help people reduce their salt intake. People with advanced CKD should avoid salt substitutes that use potassium, such as AlsoSalt or Nu-Salt, because CKD limits the body's ability to eliminate potassium from the blood. The table below provides some high-sodium foods and suggestions for low-sodium alternatives that are healthier for people with any level of CKD who have high blood pressure.
                
High- and Low-sodium Foods
                
High-sodium Foods    Low-sodium Alternatives        Salt Regular canned vegetables Hot dogs and canned meat Packaged rice with sauce Packaged noodles with sauce Frozen vegetables with sauce Frozen prepared meals Canned soup Regular tomato sauce Snack foods    Salt-free herb seasonings Low-sodium canned foods Frozen vegetables without sauce Fresh, cooked meat Plain rice without sauce Plain noodles without sauce Fresh vegetables without sauce Homemade soup with fresh ingredients Reduced-sodium tomato sauce Unsalted pretzels Unsalted popcorn
Question: What is (are) Respiratory Distress Syndrome ?

Answer: Respiratory distress syndrome (RDS) is a breathing disorder that affects newborns. RDS rarely occurs in full-term infants. The disorder is more common in premature infants born about 6 weeks or more before their due dates.
                
RDS is more common in premature infants because their lungs aren't able to make enough surfactant (sur-FAK-tant). Surfactant is a liquid that coats the inside of the lungs. It helps keep them open so that infants can breathe in air once they're born.
                
Without enough surfactant, the lungs collapse and the infant has to work hard to breathe. He or she might not be able to breathe in enough oxygen to support the body's organs. The lack of oxygen can damage the baby's brain and other organs if proper treatment isn't given.
                
Most babies who develop RDS show signs of breathing problems and a lack of oxygen at birth or within the first few hours that follow.
                
Overview
                
RDS is a common lung disorder in premature infants. In fact, nearly all infants born before 28 weeks of pregnancy develop RDS.
                
RDS might be an early phase of bronchopulmonary dysplasia (brong-ko-PUL-mo-nar-e dis-PLA-ze-ah), or BPD. This is another breathing disorder that affects premature babies.
                
RDS usually develops in the first 24 hours after birth. If premature infants still have breathing problems by the time they reach their original due dates, they may be diagnosed with BPD. Some of the life-saving treatments used for RDS may cause BPD.
                
Some infants who have RDS recover and never get BPD. Infants who do get BPD have lungs that are less developed or more damaged than the infants who recover.
                
Infants who develop BPD usually have fewer healthy air sacs and tiny blood vessels in their lungs. Both the air sacs and the tiny blood vessels that support them are needed to breathe well.
                
Outlook
                
Due to improved treatments and medical advances, most infants who have RDS survive. However, these babies may need extra medical care after going home.
                
Some babies have complications from RDS or its treatments. Serious complications include chronic (ongoing) breathing problems, such as asthma and BPD; blindness; and brain damage.