[System] The assistant is a factual and informative medical chatbot.

[User] what research (or clinical trials) is being done for Cerebral Palsy ?

[Assistant] The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. Researchers supported by the NINDS are investigating the roles of mishaps early in brain development, including genetic defects, which are sometimes responsible for the brain malformations and abnormalities that result in cerebral palsy.Scientists are also looking at traumatic events in newborn babies brains, such as bleeding, epileptic seizures, and breathing and circulation problems, which can cause the abnormal release of chemicals that trigger the kind of damage that causes cerebral palsy. NINDS-supported researchers also hope to find ways to prevent white matter disease, the most common cause of cerebral palsy. To make sure children are getting the right kinds of therapies, studies are also being done that evaluate both experimental treatments and treatments already in use so that physicians and parents have valid information to help them choose the best therapy.


[System] The assistant is a factual and informative medical chatbot.

[User] What causes What I need to know about Crohn's Disease ?

[Assistant]
Researchers are studying the possible causes of Crohns disease. Your bodys natural defense system, called the immune system, protects you from infection by fighting against bacteria, viruses, and other things that can make you sick. Researchers believe that with Crohns disease, the immune system attacks harmless bacteria and viruses. During the attack, white blood cells gather in the intestinal lining. The white blood cells cause chronic inflammation, which leads to ulcers, or sores, and damage to the intestines.

Other factors associated with Crohns disease are

- genesthe traits passed down from your parents  - unknown triggers caused by the environment


[System] The assistant is a factual and informative medical chatbot.

[User] What is (are) Breast Cancer ?

[Assistant] Breast cancer occurs when a malignant tumor forms in the breast tissue. The cancer can be found in the breast itself or in the ducts and lymph nodes that surround the breast.


[System] The assistant is a factual and informative medical chatbot.

[User] what research (or clinical trials) is being done for Mitochondrial Myopathy ?

[Assistant] The NINDS conducts and supports research on mitochondrial myopathies. The goals of this research are to increase scientific understanding of these disorders and to find ways to effectively treat, prevent, or potentially cure them.


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[User] What are the treatments for familial pityriasis rubra pilaris ?

[Assistant] These resources address the diagnosis or management of familial pityriasis rubra pilaris:  - Genetic Testing Registry: Pityriasis rubra pilaris   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Brody myopathy ?

[Assistant] Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases the underlying genetic defect has not been identified.


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[User] What is (are) Alopecia universalis ?

[Assistant] Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AU. There is currently no cure for AU, but sometimes hair regrowth occurs on it's own, even after many years.


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[User] What is (are) Infectious Diseases ?

[Assistant] Infectious diseases kill more people worldwide than any other single cause. Infectious diseases are caused by germs. Germs are tiny living things that are found everywhere - in air, soil and water. You can get infected by touching, eating, drinking or breathing something that contains a germ. Germs can also spread through animal and insect bites, kissing and sexual contact. Vaccines, proper hand washing and medicines can help prevent infections.     There are four main kinds of germs:        -  Bacteria - one-celled germs that multiply quickly and may release chemicals which can make you sick    -  Viruses - capsules that contain genetic material, and use your own cells to multiply    -  Fungi - primitive plants, like mushrooms or mildew     -  Protozoa - one-celled animals that use other living things for food and a place to live       NIH: National Institute of Allergy and Infectious Diseases


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[User] What is (are) Bipolar Disorder ?

[Assistant] Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They go from very happy, "up," and active to very sad and hopeless, "down," and inactive, and then back again. They often have normal moods in between. The up feeling is called mania. The down feeling is depression.    The causes of bipolar disorder aren't always clear. It runs in families. Abnormal brain structure and function may also play a role.    Bipolar disorder often starts in a person's late teen or early adult years. But children and adults can have bipolar disorder too. The illness usually lasts a lifetime.    If you think you may have it, tell your health care provider. A medical checkup can rule out other illnesses that might cause your mood changes.    If not treated, bipolar disorder can lead to damaged relationships, poor job or school performance, and even suicide. However, there are effective treatments to control symptoms: medicine and talk therapy. A combination usually works best.    NIH: National Institute of Mental Health


[System] The assistant is a factual and informative medical chatbot.

[User] What causes Urinary Incontinence in Children ?

[Assistant]
The exact cause of most cases of nighttime UI is not known. Though a few cases are caused by structural problems in the urinary tract, most cases probably result from a mix of factors including slower physical development, an overproduction of urine at night, and the inability to recognize bladder filling when asleep. Nighttime UI has also been associated with attention deficit hyperactivity disorder (ADHD), OSA, and anxiety. Children also may inherit genes from one or both parents that make them more likely to have nighttime UI.

Slower Physical Development

Between the ages of 5 and 10, bedwetting may be the result of a small bladder capacity, long sleeping periods, and underdevelopment of the bodys alarms that signal a full or emptying bladder. This form of UI fades away as the bladder grows and the natural alarms become operational.

Overproduction of Urine at Night

The body produces antidiuretic hormone (ADH), a natural chemical that slows down the production of urine. More ADH is produced at night so the need to urinate lessens. If the body does not produce enough ADH at night, the production of urine may not slow down, leading to bladder overfilling. If a child does not sense the bladder filling and awaken to urinate, wetting will occur.

Structural Problems

A small number of UI cases are caused by physical problems in the urinary tract. Rarely, a blocked bladder or urethra may cause the bladder to overfill and leak. Nerve damage associated with the birth defect spina bifida can cause UI. In these cases, UI can appear as a constant dribbling of urine.

Attention Deficit Hyperactivity Disorder

Children with ADHD are three times more likely to have nighttime UI than children without ADHD.2 The connection between ADHD and bedwetting has not been explained, but some experts theorize that both conditions are related to delays in central nervous system development.

Obstructive Sleep Apnea

Nighttime UI may be one sign of OSA. Other symptoms of OSA include snoring, mouth breathing, frequent ear and sinus infections, sore throat, choking, and daytime drowsiness. Experts believe that when the airway in people with OSA closes, a chemical may be released in the body that increases water production and inhibits the systems that regulate fluid volume. Successful treatment of OSA often resolves the associated nighttime UI.

Anxiety

Anxiety-causing events that occur between 2 and 4 years of agebefore total bladder control is achievedmight lead to primary enuresis. Anxiety experienced after age 4 might lead to secondary enuresis in children who have been dry for at least 6 months. Events that cause anxiety in children include physical or sexual abuse; unfamiliar social situations, such as moving or starting at a new school; and major family events such as the birth of a sibling, a death, or divorce.

UI itself is an anxiety-causing event. Strong bladder contractions resulting in daytime leakage can cause embarrassment and anxiety that lead to nighttime wetting.

Genetics

Certain genes have been found to contribute to UI. Children have a 30 percent chance of having nighttime UI if one parent was affected as a child. If both parents were affected, there is a 70 percent chance of bedwetting.1


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[User] What is (are) Limb-girdle muscular dystrophy, type 2C ?

[Assistant] Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips. LGMD2C is inherited in an autosomal recessive manner, and treatment is based on an individual's symptoms.


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[User] How many people are affected by renal tubular dysgenesis ?

[Assistant] Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown.


[System] The assistant is a factual and informative medical chatbot.

[User] What is (are) Simple Kidney Cysts ?

[Assistant] The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to filter out about 1 to 2 quarts of urine, composed of waste products and extra water. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination.


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[User] Who is at risk for Atherosclerosis? ?

[Assistant]
The exact cause of atherosclerosis isn't known. However, certain traits, conditions, or habits may raise your risk for the disease. These conditions are known as risk factors. The more risk factors you have, the more likely it is that you'll develop atherosclerosis.

You can control most risk factors and help prevent or delay atherosclerosis. Other risk factors can't be controlled.

Major Risk Factors

Unhealthy blood cholesterol levels. This includes high LDL cholesterol (sometimes called "bad" cholesterol) and low HDL cholesterol (sometimes called "good" cholesterol).

High blood pressure. Blood pressure is considered high if it stays at or above 140/90 mmHg over time. If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. (The mmHg is millimeters of mercurythe units used to measure blood pressure.)

Smoking. Smoking can damage and tighten blood vessels, raise cholesterol levels, and raise blood pressure. Smoking also doesn't allow enough oxygen to reach the body's tissues.

Insulin resistance. This condition occurs if the body can't use its insulin properly. Insulin is a hormone that helps move blood sugar into cells where it's used as an energy source. Insulin resistance may lead to diabetes.

Diabetes. With this disease, the body's blood sugar level is too high because the body doesn't make enough insulin or doesn't use its insulin properly.

Overweight or obesity. The terms "overweight" and "obesity" refer to body weight that's greater than what is considered healthy for a certain height.

Lack of physical activity. A lack of physical activity can worsen other risk factors for atherosclerosis, such as unhealthy blood cholesterol levels, high blood pressure, diabetes, and overweight and obesity.

Unhealthy diet. An unhealthy diet can raise your risk for atherosclerosis. Foods that are high in saturated and trans fats, cholesterol, sodium (salt), and sugar can worsen other atherosclerosis risk factors.

Older age. As you get older, your risk for atherosclerosis increases. Genetic or lifestyle factors cause plaque to build up in your arteries as you age. By the time you're middle-aged or older, enough plaque has built up to cause signs or symptoms. In men, the risk increases after age 45. In women, the risk increases after age 55.

Family history of early heart disease. Your risk for atherosclerosis increases if your father or a brother was diagnosed with heart disease before 55 years of age, or if your mother or a sister was diagnosed with heart disease before 65 years of age.

Although age and a family history of early heart disease are risk factors, it doesn't mean that you'll develop atherosclerosis if you have one or both. Controlling other risk factors often can lessen genetic influences and prevent atherosclerosis, even in older adults.

Studies show that an increasing number of children and youth are at risk for atherosclerosis. This is due to a number of causes, including rising childhood obesity rates.

Emerging Risk Factors

Scientists continue to study other possible risk factors for atherosclerosis.

High levels of a protein called C-reactive protein (CRP) in the blood may raise the risk for atherosclerosis and heart attack. High levels of CRP are a sign of inflammation in the body.

Inflammation is the body's response to injury or infection. Damage to the arteries' inner walls seems to trigger inflammation and help plaque grow.

People who have low CRP levels may develop atherosclerosis at a slower rate than people who have high CRP levels. Research is under way to find out whether reducing inflammation and lowering CRP levels also can reduce the risk for atherosclerosis.

High levels of triglycerides (tri-GLIH-seh-rides) in the blood also may raise the risk for atherosclerosis, especially in women. Triglycerides are a type of fat.

Studies are under way to find out whether genetics may play a role in atherosclerosis risk.

Other Factors That Affect Atherosclerosis

Other factors also may raise your risk for atherosclerosis, such as:

Sleep apnea. Sleep apnea is a disorder that causes one or more pauses in breathing or shallow breaths while you sleep. Untreated sleep apnea can raise your risk for high blood pressure, diabetes, and even a heart attack or stroke.

Stress. Research shows that the most commonly reported "trigger" for a heart attack is an emotionally upsetting event, especially one involving anger.

Alcohol. Heavy drinking can damage the heart muscle and worsen other risk factors for atherosclerosis. Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day.


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[User] How to diagnose Mixed connective tissue disease ?

[Assistant] How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD.


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[User] What are the treatments for Bronchopulmonary Dysplasia ?

[Assistant]
Preventive Measures

If your doctor thinks you're going to give birth too early, he or she may give you injections of a corticosteroid medicine.

The medicine can speed up surfactant production in your baby. Surfactant is a liquid that coats the inside of the lungs. It helps keep the lungs open so your infant can breathe in air once he or she is born.

Corticosteroids also can help your baby's lungs, brain, and kidneys develop more quickly while he or she is in the womb.

Premature babies who have very low birth weights also might be given corticosteroids within the first few days of birth. Doctors sometimes prescribe inhaled nitric oxide shortly after birth for babies who have very low birth weights. This treatment can help improve the babies' lung function.

These preventive measures may help reduce infants' risk of respiratory distress syndrome (RDS), which can lead to BPD.

Treatment for Respiratory Distress Syndrome

The goals of treating infants who have RDS include:

Reducing further injury to the lungs

Providing nutrition and other support to help the lungs grow and recover

Preventing lung infections by giving antibiotics

Treatment of RDS usually begins as soon as an infant is born, sometimes in the delivery room. Most infants who have signs of RDS are quickly moved to a neonatal intensive care unit (NICU). They receive around-the-clock treatment from health care professionals who specialize in treating premature infants.

Treatments for RDS include surfactant replacement therapy, breathing support with nasal continuous positive airway pressure (NCPAP) or a ventilator, oxygen therapy (oxygen given through nasal prongs, a mask, or a breathing tube), and medicines to treat fluid buildup in the lungs.

For more information about RDS treatments, go to the Health Topics Respiratory Distress Syndrome article.

Treatment for Bronchopulmonary Dysplasia

Treatment in the NICU is designed to limit stress on infants and meet their basic needs of warmth, nutrition, and protection. Once doctors diagnose BPD, some or all of the treatments used for RDS will continue in the NICU.

Such treatment usually includes:

Using radiant warmers or incubators to keep infants warm and reduce the risk of infection.

Ongoing monitoring of blood pressure, heart rate, breathing, and temperature through sensors taped to the babies' bodies.

Using sensors on fingers or toes to check the amount of oxygen in the infants' blood.

Giving fluids and nutrients through needles or tubes inserted into the infants' veins. This helps prevent malnutrition and promotes growth. Nutrition is vital to the growth and development of the lungs. Later, babies may be given breast milk or infant formula through feeding tubes that are passed through their noses or mouths and into their throats.

Checking fluid intake to make sure that fluid doesn't build up in the babies' lungs.

As BPD improves, babies are slowly weaned off NCPAP or ventilators until they can breathe on their own. These infants will likely need oxygen therapy for some time.

If your infant has moderate or severe BPD, echocardiography might be done every few weeks to months to check his or her pulmonary artery pressure.

If your child needs long-term ventilator support, he or she will likely get a tracheostomy (TRA-ke-OS-toe-me). A tracheostomy is a surgically made hole. It goes through the front of the neck and into the trachea (TRA-ke-ah), or windpipe. Your child's doctor will put the breathing tube from the ventilator through the hole.

Using a tracheostomy instead of an endotracheal (en-do-TRA-ke-al) tube has some advantages. (An endotracheal tube is a breathing tube inserted through the nose or mouth and into the windpipe.)

Long-term use of an endotracheal tube can damage the trachea. This damage may need to be corrected with surgery later. A tracheostomy can allow your baby to interact more with you and the NICU staff, start talking, and develop other skills.

While your baby is in the NICU, he or she also may need physical therapy. Physical therapy can help strengthen your child's muscles and clear mucus out of his or her lungs.

Infants who have BPD may spend several weeks or months in the hospital. This allows them to get the care they need.

Before your baby goes home, learn as much as you can about your child's condition and how it's treated. Your baby may continue to have some breathing symptoms after he or she leaves the hospital.

Your child will likely continue on all or some of the treatments that were started at the hospital, including:

Medicines, such as bronchodilators, steroids, and diuretics.

Oxygen therapy or breathing support from NCPAP or a ventilator.

Extra nutrition and calories, which may be given through a feeding tube.

Preventive treatment with a medicine called palivizumab for severe respiratory syncytial virus (RSV). This common virus leads to mild, cold-like symptoms in adults and older, healthy children. However, in infantsespecially those in high-risk groupsRSV can lead to severe breathing problems.

Your child also should have regular checkups with and timely vaccinations from a pediatrician. This is a doctor who specializes in treating children. If your child needs oxygen therapy or a ventilator at home, a pulmonary specialist might be involved in his or her care.

Seek out support from family, friends, and hospital staff. Ask the case manager or social worker at the hospital about what you'll need after your baby leaves the hospital.

The doctors and nurses can assist with questions about your infant's care. Also, you may want to ask whether your community has a support group for parents of premature infants.


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[User] What is (are) Vesicoureteral Reflux ?

[Assistant]
The two types of VUR are primary and secondary. Most cases of VUR are primary and typically affect only one ureter and kidney. With primary VUR, a child is born with a ureter that did not grow long enough during the childs development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine refluxes from the bladder to the ureter and eventually to the kidney. This type of VUR can get better or disappear as a child gets older. As a child grows, the ureter gets longer and function of the valve improves.

Secondary VUR occurs when a blockage in the urinary tract causes an increase in pressure and pushes urine back up into the ureters. Children with secondary VUR often have bilateral reflux. VUR caused by a physical defect typically results from an abnormal fold of tissue in the urethra that keeps urine from flowing freely out of the bladder.

VUR is usually classified as grade I through V, with grade I being the least severe and grade V being the most severe.


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[User] What are the treatments for Schwartz Jampel syndrome type 1 ?

[Assistant] How might Schwartz Jampel syndrome type 1 be treated? Treatment of Schwartz Jampel syndrome type 1 (SJS1) aims to reduce stiffness and cramping of muscles. This might include nonpharmacologic modalities such as massage, warming of muscles, and gradual strengthening exercises. Medications that might be utilized include muscle relaxants and anti seizure medications, particularly Carbamazepine. Botox might additionally be used to relieve eye symptoms such as blepharospasm (involuntary blinking of spasm of eyes).  If Botox is not successful in managing eye symptoms, a variety of surgical techniques have been found to be effective. When considering surgery as an option, an important consideration is the risk for malignant hyperthermia, which could lead to adverse outcomes.


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[User] How many people are affected by Perrault syndrome ?

[Assistant] Perrault syndrome is a rare disorder; fewer than 100 affected individuals have been described in the medical literature. It is likely that the condition is underdiagnosed, because males without an affected sister will likely be misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault syndrome.


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[User] what research (or clinical trials) is being done for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?

[Assistant] The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Several NINDS-funded investigators are studying blood vessel damage and cerebral blood flow as it relates to stroke. The NINDS also funds research on vascular cognitive impairment, which is an important contributor to aging-related cognitive decline and is the result of impaired performance of the brain's small blood vessels. Additionally, the NINDS and other institutes of the National Institutes of Health (NIH) conduct research relating to vasculitis syndromes in laboratories at the NIH and also support vasculitis research through grants to major medical institutions across the country. The NINDS supports The Vasculitis Clinical Research Consortium (VCRC), a network of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research and improving the care of individuals with various vasculitis disorders.


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[User] What is (are) sitosterolemia ?

[Assistant] Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues. These lipids are called plant sterols (or phytosterols). Sitosterol is one of several plant sterols that accumulate in this disorder, with a blood level 30 to 100 times greater than normal. Cholesterol, a similar fatty substance found in animal products, is mildly to moderately elevated in many people with sitosterolemia. Cholesterol levels are particularly high in some affected children.  Plant sterols are not produced by the body; they are taken in as components of foods. Signs and symptoms of sitosterolemia begin to appear early in life after foods containing plant sterols are introduced into the diet.  An accumulation of fatty deposits on the artery walls (atherosclerosis) may occur by adolescence or early adulthood in people with sitosterolemia. The deposits narrow the arteries and can eventually block blood flow, increasing the chance of a heart attack, stroke, or sudden death.  People with sitosterolemia typically develop small yellowish growths called xanthomas beginning in childhood. The xanthomas consist of accumulated lipids and may be located anywhere on or just under the skin, typically on the heels, knees, elbows, and buttocks. They may also occur in the bands that connect muscles to bones (tendons), including tendons of the hand and the tendon that connects the heel of the foot to the calf muscles (the Achilles tendon). Large xanthomas can cause pain, difficulty with movement, and cosmetic problems.  Joint stiffness and pain resulting from plant sterol deposits may also occur in individuals with sitosterolemia. Less often, affected individuals have blood abnormalities. Occasionally the blood abnormalities are the only signs of the disorder. The red blood cells may be broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). This type of anemia is called hemolytic anemia. Affected individuals sometimes have abnormally shaped red blood cells called stomatocytes. In addition, the blood cells involved in clotting, called platelets or thrombocytes, may be abnormally large (macrothrombocytopenia).


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[User] What are the symptoms of Essential Thrombocythemia ?

[Assistant] Patients with essential thrombocythemia may have no signs or symptoms. Essential thrombocythemia often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by essential thrombocytopenia or by other conditions. Check with your doctor if you have any of the following:         - Headache.    - Burning or tingling in the hands or feet.    - Redness and warmth of the hands or feet.    - Vision or hearing problems.        Platelets are sticky. When there are too many platelets, they may clump together and make it hard for the blood to flow. Clots may form in blood vessels and there may also be increased bleeding. These can cause serious health problems such as stroke or heart attack.


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[User] what research (or clinical trials) is being done for Parkinson's Disease ?

[Assistant]
The National Institute of Neurological Disorders and Stroke (NINDS) conducts PD research in laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Current research programs funded by the NINDS are using animal models to study how the disease progresses and to develop new drug therapies. Scientists looking for the cause of PD continue to search for possible environmental factors, such as toxins, that may trigger the disorder, and study genetic factors to determine how defective genes play a role. Other scientists are working to develop new protective drugs that can delay, prevent, or reverse the disease.

http://www.ninds.nih.gov/research/parkinsonsweb/index.htm


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[User] What is (are)  ?

[Assistant] On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spread? How can patients prevent the spread of vancomycin-resistant enterococci? What should a patient do if they think they have vancomycin-resistant enterococci? Recommendations and Guidelines General Information For more images of this bacterium, search the Public Health Image Library What is vancomycin-resistant enterococci? Enteroccocci are bacteria that are normally present in the human intestines and in the female genital tract and are often found in the environment. These bacteria can sometimes cause infections. Vancomycin is an antibiotic that is used to treat some drug-resistant infections caused by enterococci. In some instances, enterococci have become resistant to this drug and thus are called vancomycin-resistant enterococci (VRE). Most VRE infections occur in hospitals. Top of page What types of infections does VRE cause? VRE can live in the human intestines and female genital tract without causing disease (often called colonization). However, sometimes it can cause infections of the urinary tract, the bloodstream, or of wounds associated with catheters or surgical procedures. Top of page Are certain people at risk of getting VRE? The following persons are at increased risk becoming infected with VRE: People who have been previously treated with the antibiotic vancomycin or other antibiotics for long periods of time. People who are hospitalized, particularly when they receive antibiotic treatment for long periods of time. People with weakened immune systems such as patients in intensive care units, or in cancer or transplant wards. People who have undergone surgical procedures such as abdominal or chest surgery. People with medical devices that stay in for some time such as urinary catheters or central intravenous (IV) catheters. People who are colonized with VRE. Top of page What is the treatment for VRE? People with colonized VRE (bacteria are present, but have no symptoms of an infection)  do not need treatment. Most VRE infections can be treated with antibiotics other than vancomycin. Laboratory testing of the VRE can determine which antibiotics will work. For people who get VRE infections in their bladder and have urinary catheters, removal of the catheter when it is no longer needed can also help get rid of the infection. Top of page How is VRE spread? VRE is often passed from person to person by the contaminated hands of caregivers. VRE can get onto a caregiver's hands after they have contact with other people with VRE or after contact with contaminated surfaces. VRE can also be spread directly to people after they touch surfaces that are contaminated with VRE. VRE is not spread through the air by coughing or sneezing. Top of page How can patients prevent the spread of VRE? If a patient or someone in their household has VRE, the following are some things they can do to prevent the spread of VRE: Keep their hands clean. Always wash their hands thoroughly after using the bathroom and before preparing food. Clean their hands after contact with persons who have VRE. Wash with soap and water (particularly when visibly soiled) or use alcohol-based hand rubs. Frequently clean areas of the home, such as bathrooms, that may become contaminated with VRE. Wear gloves if hands may come in contact with body fluids that may contain VRE, such as stool or bandages from infected wounds. Always wash their hands after removing gloves. If someone has VRE, be sure to tell healthcare providers so that they are aware of the infection. Healthcare facilities use special precautions to help prevent the spread of VRE to others. Top of page What should patients do if they think they have vancomycin-resistant enterococci (VRE)? Anyone who thinks they have VRE must talk with their healthcare provider. Top of page Recommendations and Guidelines For more information about prevention and treatment of HAIs, see the resources below: Siegel JD, Rhinehart E, Jackson M, et al. The Healthcare Infection Control Practices Advisory Committee (HICPAC). Management of Multidrug-Resistant Organisms In Healthcare Settings, 2006


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[User] How to prevent Urinary Tract Infections in Children ?

[Assistant] If a child has a normal urinary tract, parents can help the child avoid UTIs by encouraging regular trips to the bathroom. The parents should make sure the child gets enough to drink if infrequent urination is a problem. The child should be taught proper cleaning techniques after using the bathroom to keep bacteria from entering the urinary tract. Loose-fitting clothes and cotton underwear allow air to dry the area. Parents should consult a health care provider about the best ways to treat constipation.


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[User] What are the symptoms of Prostate Cancer ?

[Assistant] - a need to urinate frequently, especially at night  - difficulty starting urination or holding back urine  - inability to urinate  - weak or interrupted flow of urine a need to urinate frequently, especially at night difficulty starting urination or holding back urine inability to urinate weak or interrupted flow of urine If prostate cancer develops and is not treated, it can cause these symptoms: - painful or burning urination  - difficulty in having an erection  - painful ejaculation  - blood in urine or semen  - pain or stiffness in the lower back, hips, or upper thighs painful or burning urination difficulty in having an erection painful ejaculation blood in urine or semen pain or stiffness in the lower back, hips, or upper thighs


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[User] What are the symptoms of Hypotension ?

[Assistant]
Orthostatic Hypotension and Neurally Mediated Hypotension

The signs and symptoms of orthostatic hypotension and neurally mediated hypotension (NMH) are similar. They include:

Dizziness or light-headedness

Blurry vision

Confusion

Weakness

Fatigue (feeling tired)

Nausea (feeling sick to your stomach)

Orthostatic hypotension may happen within a few seconds or minutes of standing up after you've been sitting or lying down.

You may feel that you're going to faint, or you may actually faint. These signs and symptoms go away if you sit or lie down for a few minutes until your blood pressure adjusts to normal.

The signs and symptoms of NMH occur after standing for a long time or in response to an unpleasant, upsetting, or scary situation. The drop in blood pressure with NMH doesn't last long and often goes away after sitting down.

Severe Hypotension Linked to Shock

In shock, not enough blood and oxygen flow to the body's major organs, including the brain. The early signs and symptoms of reduced blood flow to the brain include light-headedness, sleepiness, and confusion.

In the earliest stages of shock, it may be hard to detect any signs or symptoms. In older people, the first symptom may only be confusion.

Over time, as shock worsens, a person won't be able to sit up without passing out. If the shock continues, the person will lose consciousness. Shock often is fatal if not treated right away.

Other signs and symptoms of shock vary, depending on what's causing the shock. When low blood volume (from major blood loss, for example) or poor pumping action in the heart (from heart failure, for example) causes shock:

The skin becomes cold and sweaty. It often looks blue or pale. If pressed, the color returns to normal more slowly than usual. A bluish network of lines appears under the skin.

The pulse becomes weak and rapid.

The person begins to breathe very quickly.

When extreme relaxation of blood vessels causes shock (such as in vasodilatory shock), a person feels warm and flushed at first. Later, the skin becomes cold and sweaty, and the person feels very sleepy.

Shock is an emergency and must be treated right away. If a person has signs or symptoms of shock, call 911.


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[User] What are the treatments for Andersen-Tawil syndrome ?

[Assistant] These resources address the diagnosis or management of Andersen-Tawil syndrome:  - Gene Review: Gene Review: Andersen-Tawil Syndrome  - Genetic Testing Registry: Andersen Tawil syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is the outlook for Tourette Syndrome ?

[Assistant] Although TS can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood. As a result, some individuals may actually become symptom free or no longer need medication for tic suppression.


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[User] What is (are) Breast Cancer ?

[Assistant] One definition of cure is being alive and free of breast cancer for 5 years. If the cancer is found early, a woman's chances of survival are better. In fact, nearly 98 percent of women who discover their breast cancer when it is near the site of origin and still small in size are alive 5 years later. However, women whose cancer is diagnosed at a late stage, after it has spread to other parts of the body, have only a 23.3 percent chance of surviving 5 years. To learn more about what happens after treatment, see Surviving Cancer.


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[User] What are the symptoms of Osteochondritis dissecans ?

[Assistant] What are the signs and symptoms of osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage and bone travel into the joint space: Pain, swelling and/or tenderness Joint popping Joint weakness Decreased range of motion Although osteochondritis dissecans can develop in any joint of the body, the knee, ankle and elbow are most commonly affected. Most people only develop the condition in a single joint.


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[User] What is (are) Hypophosphatemic rickets ?

[Assistant] Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint pain; poor bone growth; and short stature. In some affected babies, the space between the skull bones closes too soon (craniosynostosis). This sometimes results in developmental abnormalities. Hypophosphatemic rickets is almost always inherited and may be caused by changes (mutations) in any of several genes. Most commonly it is due to the PHEX gene and inherited in an X-linked dominant manner. Less commonly it is inherited in an X-linked recessive manner (often called Dent disease); autosomal dominant manner; or autosomal recessive manner. Treatment involves taking phosphate and calcitriol in order to raise phosphate levels in the blood and promote normal bone formation.


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[User] What is (are) hystrix-like ichthyosis with deafness ?

[Assistant] Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.  Newborns with HID typically develop reddened skin. The skin abnormalities worsen over time, and the ichthyosis eventually covers most of the body, although the palms of the hands and soles of the feet are usually only mildly affected. Breaks in the skin may occur and in severe cases can lead to life-threatening infections. Affected individuals have an increased risk of developing a type of skin cancer called squamous cell carcinoma, which can also affect mucous membranes such as the inner lining of the mouth. People with HID may also have patchy hair loss caused by scarring on particular areas of skin.


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[User] What is (are) Subacute cerebellar degeneration ?

[Assistant] Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum). Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration). Signs and symptoms may include ataxia, speech and swallowing problems, dementia, vision problems, and vertigo.


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[User] How to diagnose Anal Cancer ?

[Assistant] Tests that examine the rectum and anus are used to detect (find) and diagnose anal cancer. 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.    -   Digital rectal examination (DRE): An exam of the anus and rectum. The doctor or nurse inserts a lubricated, gloved finger into the lower part of the rectum to feel for lumps or anything else that seems unusual.    -  Anoscopy: An exam of the anus and lower rectum using a short, lighted tube called an anoscope.     -   Proctoscopy : An exam of the rectum using a short, lighted tube called a proctoscope.    -  Endo-anal or endorectal ultrasound : A procedure in which an ultrasound transducer (probe) is inserted into the anus or rectum and used to bounce high-energy sound waves (ultrasound) off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram.     -   Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. If an abnormal area is seen during the anoscopy, a biopsy may be done at that time.


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[User] Is tuberous sclerosis complex inherited ?

[Assistant] Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development. In about one-third of cases, an affected person inherits an altered TSC1 or TSC2 gene from a parent who has the disorder. The remaining two-thirds of people with tuberous sclerosis complex are born with new mutations in the TSC1 or TSC2 gene. These cases, which are described as sporadic, occur in people with no history of tuberous sclerosis complex in their family. TSC1 mutations appear to be more common in familial cases of tuberous sclerosis complex, while mutations in the TSC2 gene occur more frequently in sporadic cases.


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[User] What are the treatments for CHOPS syndrome ?

[Assistant] These resources address the diagnosis or management of CHOPS syndrome:  - Genetic Testing Registry: Chops syndrome  - MedlinePlus Encyclopedia: Congenital Heart Defect -- Corrective Surgery   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Diagnosis of Diabetes and Prediabetes ?

[Assistant]
Prediabetes is when blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes means a person is at increased risk for developing type 2 diabetes, as well as for heart disease and stroke. Many people with prediabetes develop type 2 diabetes within 10 years.

However, modest weight loss and moderate physical activity can help people with prediabetes delay or prevent type 2 diabetes.


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[User] What are the treatments for collagen VI-related myopathy ?

[Assistant] These resources address the diagnosis or management of collagen VI-related myopathy:  - Gene Review: Gene Review: Collagen Type VI-Related Disorders  - Genetic Testing Registry: Bethlem myopathy  - Genetic Testing Registry: Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy  - Genetic Testing Registry: Collagen VI-related myopathy  - Genetic Testing Registry: Ullrich congenital muscular dystrophy  - Muscular Dystrophy UK: Could Cyclosporine A be used to treat Bethlem myopathy and Ullrich congenital muscular dystrophy?   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the treatments for Schimke immuno-osseous dysplasia ?

[Assistant] These resources address the diagnosis or management of Schimke immuno-osseous dysplasia:  - Gene Review: Gene Review: Schimke Immunoosseous Dysplasia  - Genetic Testing Registry: Schimke immunoosseous dysplasia   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] How to prevent Parasites - Baylisascaris infection ?

[Assistant]
Baylisascaris infection can be prevented by avoiding contact with raccoons and their feces. Washing your hands after working or playing outdoors is good practice for preventing a number of diseases.

Do not keep, feed, or adopt wild animals, including raccoons, as pets. Infection rarely causes symptoms in raccoons, so you cannot tell if a raccoon is infected by observing its behavior. Roundworm eggs passed in the feces of infected raccoons are not visible to the naked eye. Eggs can only be seen using a microscope.

You may discourage raccoons from living in and around your home or parks by taking these steps:

     - prevent access to food
     - keep trash containers tightly closed
     - close off access to attics and basements
     - keep sandboxes covered when not in use (raccoons may use sandboxes as a latrine)
     - remove fish ponds -- they eat the fish and drink the water
     - eliminate water sources
     - remove bird feeders
     - clear brush so raccoons are not likely to make a den on your property

Stay away from areas and materials that might be contaminated by raccoon feces. Raccoons typically defecate at the base of or in raised forks of trees, or on raised horizontal surfaces such as fallen logs, stumps, or large rocks. Raccoon feces also can be found on woodpiles, decks, rooftops, and in attics, garages, and haylofts. Feces usually are dark and tubular, have a pungent odor (usually worse than dog or cat feces), and often contain undigested seeds or other food items.

If you have found a raccoon latrine near your home, cleaning the area may prevent possible infection. Newly deposited eggs take at least 2-4 weeks to become infective. Prompt removal and destruction of raccoon feces will reduce risk for exposure and possible infection.

More on: Raccoon Latrine Clean-up [PDF, 111 KB, 1 page]

If you choose to clean the site yourself, care should be taken to avoid contaminating hands and clothes.

     - Wear disposable gloves to help prevent cross contamination.
     - Wear a N95-rated respirator if working in a confined space to prevent accidental ingestion of eggs or other harmful materials.
     - Avoid stirring up dust and debris- you can lightly mist the latrine area with a little water from a spray bottle to reduce the amount of dust.
     - Wear rubber boots that can be scrubbed or cover your shoes with disposable booties that can be thrown away, so that you do not bring eggs into your household.
     - Feces and material contaminated with raccoon feces should be removed and burned, buried, or sent to a landfill.
     - Most chemicals do not kill roundworm eggs; however, heat kills the eggs instantly.
     - Treat feces-soiled decks, patios, and other surfaces with boiling water or a propane torch (please contact your local fire department for regulations and safety practices).

To help further reduce the risk of possible infection, wash your hands well with soap and warm running water. Clean/launder your clothes thoroughly with hot water and detergent.

More on: Handwashing

If you are cleaning an indoor raccoon latrine and are not able to use a propane torch, use a damp (but not wet) sponge to wipe the area with hot soapy water. Rinse your sponge frequently. After you are finished, flush dirty water down the toilet. Place the sponge in a plastic bag and put the plastic bag in the garbage.

Contact your local animal control office for additional assistance.
    Dogs

Dogs may be infected with adult B. procyonis roundworms, but may not show symptoms. Have all pets de-wormed under a veterinarian's supervision and take precautions to avoid contact with their feces.
    Exotic pets

Raccoons and dogs are not the only hosts of Baylisascaris. B. procyonis infection has also been documented in kinkajous. Other animals such as coatis may be susceptible. When wild animals are kept as pets, there can be a risk of disease transmission to humans.


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[User] What are the genetic changes related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?

[Assistant] CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of the major functions of the HTRA1 enzyme is to regulate signaling by proteins in the transforming growth factor-beta (TGF-) family. TGF- signaling is essential for many critical cell functions. It also plays an important role in the formation of new blood vessels (angiogenesis).  In people with CARASIL, mutations in the HTRA1 gene prevent the effective regulation of TGF- signaling. Researchers suspect that abnormally increased TGF- signaling alters the structure of small blood vessels, particularly in the brain. These blood vessel abnormalities (described as arteriopathy) greatly increase the risk of stroke and lead to the death of nerve cells (neurons) in many areas of the brain. Dysregulation of TGF- signaling may also underlie the hair loss and back pain seen in people with CARASIL, although the relationship between abnormal TGF- signaling and these features is less clear.


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[User] What are the symptoms of Anauxetic dysplasia ?

[Assistant] What are the signs and symptoms of Anauxetic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anauxetic dysplasia. 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 recessive inheritance - Brachydactyly syndrome - Cervical cord compression - Cervical subluxation - Delayed ossification of carpal bones - Flared metaphysis - Hypertelorism - Hypodontia - Hypoplastic ilia - Intellectual disability - J-shaped sella turcica - Platyspondyly - Rhizomelia - Short finger - Short neck - Short toe - Small epiphyses - 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.


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[User] What is (are) Tethered Spinal Cord Syndrome ?

[Assistant] Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Attachments may occur congenitally at the base of the spinal cord (conus medullaris) or they may develop near the site of an injury to the spinal cord. These attachments cause an abnormal stretching of the spinal cord. The course of the disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. This type of tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. Tethered spinal cord syndrome may go undiagnosed until adulthood, when pain, sensory and motor problems, and loss of bowel and bladder control emerge. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time and may be exacerbated during sports or pregnancy, or may be due to narrowing of the spinal column (stenosis) with age. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.


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[User] What are the symptoms of Reducing body myopathy ?

[Assistant] What are the signs and symptoms of Reducing body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Reducing body myopathy. 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) Dilated cardiomyopathy 5% Areflexia - Elevated serum creatine phosphokinase - Flexion contracture - Frequent falls - Hyperlordosis - Hyporeflexia - Increased variability in muscle fiber diameter - Kyphosis - Proximal muscle weakness - Rapidly progressive - Respiratory insufficiency due to muscle weakness - Scoliosis - Short neck - Spinal rigidity - X-linked dominant inheritance - X-linked 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.


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[User] What are the symptoms of Hyperlipidemia type 3 ?

[Assistant] What are the signs and symptoms of Hyperlipidemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipidemia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal glucose tolerance - Angina pectoris - Hypercholesterolemia - Hypertriglyceridemia - Obesity - Peripheral arterial disease - Xanthomatosis - 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.


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[User] What are the symptoms of Nicolaides-Baraitser syndrome ?

[Assistant] What are the signs and symptoms of Nicolaides-Baraitser syndrome? Nicolaides-Baraitser syndrome (NCBRS) is typically characterized by intellectual disability, seizures, short stature, sparse hair, distinctive facial features, short fingers and toes (brachydactyly), and prominent joints of the fingers and toes (called interphalangeal joints). Some features of the condition may vary among affected people. All people with NCBRS have intellectual disability. In most cases it is severe, but in some cases it may be moderate or mild. Language is particularly limited, with at least 30% of affected people never developing speech. Major motor milestones such as sitting and walking are usually not very delayed. People with NCBRS are often happy and friendly, but may have temper tantrums or periods of aggression. Some people have some symptoms of autism spectrum disorder. Epilepsy occurs in about 2/3 of affected people. The type of seizures that occur can vary. Facial characteristics are usually not recognized in younger affected people. They may include a triangular-shaped face; prominent eyelashes; a nose with a broad base, thick nostrils, and upturned tip; a broad philtrum; and wide mouth. The palpebral fissures (width of the eyes) are sometimes narrow and/or downslanting. As people with NCBRS age, the amount of subcutaneous fat tissue tends to decrease, making the skin below the eyes sagging and wrinkled, especially at the cheeks when smiling. However, some affected people retain full cheeks. Facial characteristics typically become more pronounced with increasing age. In some affected adults, the lower third of the face becomes markedly broad. Sparse scalp hair is a major feature of NCBRS and is present in almost all affected people. It often gradually worsens with age, but in some people it improves over time. Skin is usually wrinkled and more noticeable in the distal limbs. Teeth may be widely spaced, and eruption of teeth (baby or adult) may be delayed. While the hands and feet usually appear normal at birth, the interphalangeal joints become prominent in the majority of affected people. Bone age can vary, and osteoporosis is not uncommon. The Human Phenotype Ontology provides the following list of signs and symptoms for Nicolaides-Baraitser 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) Abnormal hair quantity 90% Abnormal joint morphology 90% Abnormality of the palate 90% Anteverted nares 90% Brachydactyly syndrome 90% Cognitive impairment 90% Long philtrum 90% Microcephaly 90% Neurological speech impairment 90% Thin vermilion border 90% Triangular face 90% Wide mouth 90% Abnormality of the distal phalanx of finger 50% Abnormality of the eyelashes 50% Abnormality of the metacarpal bones 50% Abnormality of the nipple 50% Blepharophimosis 50% Clubbing of toes 50% Cryptorchidism 50% Eczema 50% Highly arched eyebrow 50% Narrow nasal bridge 50% Sandal gap 50% Scoliosis 50% Seizures 50% Short stature 50% Abnormality of epiphysis morphology 7.5% Accelerated skeletal maturation 7.5% Delayed skeletal maturation 7.5% Hernia 7.5% Short stature 13 of 23 Narrow nasal bridge 12 of 22 Widely spaced teeth 11 of 21 Scoliosis 9 of 22 Unilateral narrow palpebral fissure 9 of 22 Eczema 8 of 23 Absent speech - Aggressive behavior - Broad philtrum - Failure to thrive - Intellectual disability, severe - Intrauterine growth retardation - Low anterior hairline - Poor speech - Prominent interphalangeal joints - Short metacarpal - Short metatarsal - Short phalanx of finger - Sparse scalp hair - Thick lower lip vermilion - Wide nasal base - 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.


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[User] What causes Renal Artery Stenosis ?

[Assistant]
About 90 percent of RAS is caused by atherosclerosisclogging, narrowing, and hardening of the renal arteries.2 In these cases, RAS develops when plaquea sticky substance made up of fat, cholesterol, calcium, and other material found in the bloodbuilds up on the inner wall of one or both renal arteries. Plaque buildup is what makes the artery wall hard and narrow.

Most other cases of RAS are caused by fibromuscular dysplasia (FMD)the abnormal development or growth of cells on the renal artery wallswhich can cause blood vessels to narrow. Rarely, RAS is caused by other conditions.


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[User] What are the treatments for pyruvate kinase deficiency ?

[Assistant] These resources address the diagnosis or management of pyruvate kinase deficiency:  - Cincinnati Children's Hospital Medical Center: Hemolytic Anemia  - Genetic Testing Registry: Pyruvate kinase deficiency of red cells  - Johns Hopkins Medicine: Hemolytic Anemia   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Familial hemiplegic migraine type 1 ?

[Assistant] Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.


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[User] Is myosin storage myopathy inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.


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[User] Is Cowden syndrome inherited ?

[Assistant] How is Cowden syndrome inherited? Cowden syndrome is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Cowden syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.


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[User] Is Galloway-Mowat syndrome inherited ?

[Assistant] How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier


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[User] What are the genetic changes related to Carney complex ?

[Assistant] Mutations in the PRKAR1A gene cause most cases of Carney complex. This gene provides instructions for making one part (subunit) of an enzyme called protein kinase A, which promotes cell growth and division (proliferation). The subunit produced from the PRKAR1A gene, called type 1 alpha, helps control whether protein kinase A is turned on or off.  Most mutations in the PRKAR1A gene that cause Carney complex result in an abnormal type 1 alpha subunit that is quickly broken down (degraded) by the cell. The lack of this subunit causes protein kinase A to be turned on more often than normal, which leads to uncontrolled cell proliferation. The signs and symptoms of Carney complex are related to the unregulated growth of cells in many parts of the body.  Some individuals with Carney complex do not have identified mutations in the PRKAR1A gene. In many of these cases, the disorder is associated with a specific region on the short (p) arm of chromosome 2, designated as 2p16. Researchers have not discovered the gene within this region that is responsible for Carney complex.


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[User] What is (are) dyserythropoietic anemia and thrombocytopenia ?

[Assistant] Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. The term "dyserythropoietic" refers to the abnormal red blood cell formation that occurs in this condition. In affected individuals, immature red blood cells are unusually shaped and cannot develop into functional mature cells, leading to a shortage of healthy red blood cells. People with dyserythropoietic anemia and thrombocytopenia can have another blood disorder characterized by a reduced level of circulating platelets (thrombocytopenia). Platelets are cell fragments that normally assist with blood clotting. Thrombocytopenia can cause easy bruising and abnormal bleeding. While people with dyserythropoietic anemia and thrombocytopenia can have signs and symptoms of both blood disorders, some are primarily affected by anemia, while others are more affected by thrombocytopenia.  The most severe cases of dyserythropoietic anemia and thrombocytopenia are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. For many others, the signs and symptoms of dyserythropoietic anemia and thrombocytopenia begin in infancy. People with this condition experience prolonged bleeding or bruising after minor trauma or even in the absence of injury (spontaneous bleeding). Anemia can cause pale skin, weakness, and fatigue. Severe anemia may create a need for frequent blood transfusions to replenish the supply of red blood cells; however, repeated blood transfusions over many years can cause health problems such as excess iron in the blood. People with dyserythropoietic anemia and thrombocytopenia may also have a shortage of white blood cells (neutropenia), which can make them prone to recurrent infections. Additionally, they may have an enlarged spleen (splenomegaly). The severity of these abnormalities varies among affected individuals.  Some people with dyserythropoietic anemia and thrombocytopenia have additional blood disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that reduces the production of hemoglobin, which is the iron-containing protein in red blood cells that carries oxygen. A decrease in hemoglobin can lead to a shortage of oxygen in cells and tissues throughout the body. Congenital erythropoietic porphyria is another disorder that impairs hemoglobin production. People with congenital erythropoietic porphyria are also very sensitive to sunlight, and areas of skin exposed to the sun can become fragile and blistered.


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[User] What is (are) Pediatric Crohn's disease ?

[Assistant] Crohn's disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. Complications of Crohn's disease may include intestinal blockage, fistulas, anal fissures, ulcers, malnutrition, and inflammation in other areas of the body. Crohn's disease can occur in people of all age groups but is most often diagnosed in young adults. The exact cause is unknown, but is thought to involve both genetic and environmental factors. It appears to run in some families. Treatment is aimed at relieving symptoms and reducing inflammation, but some people require surgery.


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[User] How many people are affected by iron-refractory iron deficiency anemia ?

[Assistant] Although iron deficiency anemia is relatively common, the prevalence of the iron-refractory form of the disease is unknown. At least 50 cases have been described in the medical literature. Researchers suspect that iron-refractory iron deficiency anemia is underdiagnosed because affected individuals with very mild symptoms may never come to medical attention.


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[User] What are the complications of Perineal Injury in Males ?

[Assistant]
Injury to the blood vessels, nerves, and muscles in the perineum can lead to complications such as

- bladder control problems  - sexual problems

Bladder control problems. The nerves in the perineum carry signals from the bladder to the spinal cord and brain, telling the brain when the bladder is full. Those same nerves carry signals from the brain to the bladder and pelvic floor muscles, directing those muscles to hold or release urine. Injury to those nerves can block or interfere with the signals, causing the bladder to squeeze at the wrong time or not to squeeze at all. Damage to the pelvic floor muscles can cause bladder and bowel control problems.

Sexual problems. The perineal nerves also carry signals between the genitals and the brain. Injury to those nerves can interfere with the sensations of sexual contact.

Signals from the brain direct the smooth muscles in the genitals to relax, causing greater blood flow into the penis. In men, damaged blood vessels can cause erectile dysfunction (ED), the inability to achieve or maintain an erection firm enough for sexual intercourse. An internal portion of the penis runs through the perineum and contains a section of the urethra. As a result, damage to the perineum may also injure the penis and urethra.


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[User] What is (are) Chronic Fatigue Syndrome (CFS) ?

[Assistant]
Chronic fatigue syndrome, or CFS, is a devastating and complex disorder. People with CFS have overwhelming fatigue and a host of other symptoms that are not improved by bed rest and that can get worse after physical activity or mental exertion. They often function at a substantially lower level of activity than they were capable of before they became ill.

Besides severe fatigue, other symptoms include muscle pain, impaired memory or mental concentration, insomnia, and post-exertion malaise lasting more than 24 hours. In some cases, CFS can persist for years.

Researchers have not yet identified what causes CFS, and there are no tests to diagnose CFS. Moreover, because many illnesses have fatigue as a symptom, doctors need to take care to rule out other conditions, which may be treatable.


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[User] What is (are) Congenital primary aphakia ?

[Assistant] Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion. Click here to view a diagram of the eye.


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[User] Is Baller-Gerold syndrome inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What causes Schnitzler syndrome ?

[Assistant] What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are proteins that are made by certain white blood cells. They play a role in the immune response by helping destroy bacteria, viruses, and other substances that appear foreign and harmful. Some researchers believe that the abnormal accumulation of immunoglobulins in the skin and other parts of the body may play a role in the development of the signs and symptoms of Schnitzler syndrome. Other scientists speculate that alterations in cytokines may play a role in the development of Schnitzler syndrome. Cytokines are specialized proteins that play an important role in the immune response. They are secreted by certain immune system cells and play a vital role in controlling the growth and activity of other immune system cells. Abnormal findings involving a specific cytokine called interleukin-1 have been found in some people with Schnitzler syndrome.


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[User] What are the symptoms of Alopecia macular degeneration growth retardation ?

[Assistant] What are the signs and symptoms of Alopecia macular degeneration growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia macular degeneration growth retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of retinal pigmentation 90% Abnormality of the macula 90% Retinopathy 90% Split hand 90% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Finger syndactyly 50% Microdontia 50% Reduced number of teeth 50% Strabismus 7.5% Autosomal recessive inheritance - Camptodactyly - Ectodermal dysplasia - Joint contracture of the hand - Macular dystrophy - Selective tooth agenesis - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Syndactyly - Widely spaced teeth - 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.


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[User] Is monilethrix inherited ?

[Assistant] Monilethrix can have multiple patterns of inheritance. When the condition is caused by a mutation in one of the keratin genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition results from a new mutation in the gene and is not inherited.  When the condition is caused by mutations in the DSG4 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What are the treatments for cytochrome P450 oxidoreductase deficiency ?

[Assistant] These resources address the diagnosis or management of cytochrome P450 oxidoreductase deficiency:  - Gene Review: Gene Review: Cytochrome P450 Oxidoreductase Deficiency  - Genetic Testing Registry: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis  - MedlinePlus Encyclopedia: Ambiguous Genitalia  - MedlinePlus Encyclopedia: Craniosynostosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] what research (or clinical trials) is being done for Myotonia Congenita ?

[Assistant] The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to myotonia congenita and also supports additional research through grants to major research institutions across the country. Current research is exploring how, at the molecular level, the defective gene in myotonia congenita causes the specific symptoms of the disorder. Additional research is focused on developing animal models of the disorder to test potential treatments and therapies.


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[User] How many people are affected by GLUT1 deficiency syndrome ?

[Assistant] GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people. However, researchers suggest that the disorder may be underdiagnosed, because many neurological disorders can cause similar symptoms.


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[User] What are the symptoms of Carnosinemia ?

[Assistant] What are the signs and symptoms of Carnosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnosinemia. 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) Aminoaciduria 90% Cognitive impairment 90% Developmental regression 90% EEG abnormality 90% Seizures 90% Autosomal recessive inheritance - Carnosinuria - Generalized myoclonic seizures - Intellectual disability - 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.


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[User] What is (are) Earthquakes ?

[Assistant] An earthquake happens when two blocks of the earth suddenly slip past one another. Earthquakes strike suddenly, violently, and without warning at any time of the day or night. If an earthquake occurs in a populated area, it may cause property damage, injuries, and even deaths. If you live in a coastal area, there is the possibility of a tsunami. Damage from earthquakes can also lead to floods or fires.    Although there are no guarantees of safety during an earthquake, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope.    Federal Emergency Management Agency


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[User] What are the treatments for hereditary fructose intolerance ?

[Assistant] These resources address the diagnosis or management of hereditary fructose intolerance:  - Boston University: Specifics of Hereditary Fructose Intolerance and Its Diagnosis  - Gene Review: Gene Review: Hereditary Fructose Intolerance  - Genetic Testing Registry: Hereditary fructosuria  - MedlinePlus Encyclopedia: Hereditary Fructose Intolerance   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the symptoms of Loeys-Dietz syndrome type 4 ?

[Assistant] What are the signs and symptoms of Loeys-Dietz syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 4. 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) Bicuspid aortic valve 5% Emphysema 5% Hypertelorism 5% Pneumothorax 5% Spondylolisthesis 5% Talipes equinovarus 5% Abnormality of the sternum - Aortic dissection - Arachnodactyly - Arterial tortuosity - Autosomal dominant inheritance - Bruising susceptibility - Dural ectasia - High palate - Inguinal hernia - Joint hyperflexibility - Mitral valve prolapse - Pes planus - Retrognathia - Scoliosis - Tall stature - 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.


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[User] What are the treatments for Syndrome of inappropriate antidiuretic hormone ?

[Assistant] How might the syndrome of inappropriate antidiuretic hormone be treated? Treatment of syndrome of inappropriate antidiuretic hormone (SIADH) may involve fluid restriction, treatment of the underlying cause once determined, and medication that decreases the effect of antidiuretic hormone on the kidneys.


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[User] What are the treatments for Precocious puberty ?

[Assistant] What are the long term effects of treatment for precocious puberty? Several studies have looked at the long-term effects of treatment with hormone therapy on children with precocious puberty. Long-term hormone treatment has been found to be safe for the reproductive system and helpful in reaching target adult height levels. Additionally, there is little evidence suggesting that long term hormone treatment is associated with psychological or behavioral problems. More studies are needed to determine this association.


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[User] How many people are affected by McCune-Albright syndrome ?

[Assistant] McCune-Albright syndrome occurs in between 1 in 100,000 and 1 in 1,000,000 people worldwide.


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[User] What are the symptoms of Pseudoxanthoma elasticum ?

[Assistant] What are the signs and symptoms of Pseudoxanthoma elasticum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoxanthoma elasticum. 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 coagulation 90% Chorioretinal abnormality 90% Retinopathy 90% Skin rash 90% Thickened nuchal skin fold 90% Visual impairment 90% Bruising susceptibility 50% Myopia 50% Striae distensae 50% Abnormality of the endocardium 7.5% Abnormality of the mitral valve 7.5% Abnormality of the palate 7.5% Abnormality of the thorax 7.5% Abnormality of thrombocytes 7.5% Acne 7.5% Aneurysm 7.5% Blue sclerae 7.5% Cerebral calcification 7.5% Chondrocalcinosis 7.5% Coronary artery disease 7.5% Gastrointestinal hemorrhage 7.5% Hemiplegia/hemiparesis 7.5% Hyperextensible skin 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Intracranial hemorrhage 7.5% Joint hypermobility 7.5% Multiple lipomas 7.5% Nephrocalcinosis 7.5% Pruritus 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 7.5% Renovascular hypertension 5% Abnormality of the mouth - Accelerated atherosclerosis - Angina pectoris - Angioid streaks of the retina - Autosomal recessive inheritance - Congestive heart failure - Hypermelanotic macule - Intermittent claudication - Macular degeneration - Mitral stenosis - Mitral valve prolapse - Reduced visual acuity - Renal insufficiency - Restrictive cardiomyopathy - Retinal hemorrhage - Stroke - 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.


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[User] What causes Factor V Leiden thrombophilia ?

[Assistant] What causes factor V Leiden thrombophilia? Factor V Leiden thrombophilia is caused by a specific mutation in the Factor V gene. Factor V plays a critical role in the formation of blood clots in response to injury.  Genes are our bodys instructions for making proteins. The factor V gene instructs the body how to make a protein called coagulation factor V. Coagulation factor V is involved in a series of chemical reactions that hold blood clots together. A molecule called activated protein C (APC) prevents blood clots from growing too large by inactivating factor V.


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[User] Who is at risk for Cardiogenic Shock? ?

[Assistant]
The most common risk factor for cardiogenic shock is having a heart attack. If you've had a heart attack, the following factors can further increase your risk for cardiogenic shock:

Older age

A history of heart attacks or heart failure

Coronary heart disease that affects all of the hearts major blood vessels

High blood pressure

Diabetes

Women who have heart attacks are at higher risk for cardiogenic shock than men who have heart attacks.


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[User] What is (are) incontinentia pigmenti ?

[Assistant] Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.  Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood. Many affected infants have a blistering rash at birth and in early infancy, which heals and is followed by the development of wart-like skin growths. In early childhood, the skin develops grey or brown patches (hyperpigmentation) that occur in a swirled pattern. These patches fade with time, and adults with incontinentia pigmenti usually have lines of unusually light-colored skin (hypopigmentation) on their arms and legs.  Other signs and symptoms of incontinentia pigmenti can include hair loss (alopecia) affecting the scalp and other parts of the body, dental abnormalities (such as small teeth or few teeth), eye abnormalities that can lead to vision loss, and lined or pitted fingernails and toenails. Most people with incontinentia pigmenti have normal intelligence; however, this condition may affect the brain. Associated problems can include delayed development or intellectual disability, seizures, and other neurological problems.


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[User] What are the genetic changes related to Northern epilepsy ?

[Assistant] Mutations in the CLN8 gene cause Northern epilepsy. The CLN8 gene provides instructions for making a protein whose function is not well understood. The CLN8 protein is thought to play a role in transporting materials in and out of a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Based on the structure of the CLN8 protein, it may also help regulate the levels of fats (lipids) in cells.  A single CLN8 gene mutation has been identified to cause Northern epilepsy. Nearly all affected individuals have this mutation in both copies of the CLN8 gene in each cell. The effects of this mutation on protein function are unclear. Unlike other forms of NCL that result in the accumulation of large amounts of fatty substances called lipopigments in cells, contributing to cell death, Northern epilepsy is associated with very little lipopigment buildup. People with Northern epilepsy do have mild brain abnormalities resulting from cell death, but the cause of this brain cell death is unknown. It is also unclear how changes in the CLN8 protein and a loss of brain cells cause the neurological problems associated with Northern epilepsy.