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

[User] What are the genetic changes related to permanent neonatal diabetes mellitus ?

[Assistant] Permanent neonatal diabetes mellitus may be caused by mutations in several genes.  About 30 percent of individuals with permanent neonatal diabetes mellitus have mutations in the KCNJ11 gene. An additional 20 percent of people with permanent neonatal diabetes mellitus have mutations in the ABCC8 gene. These genes provide instructions for making parts (subunits) of the ATP-sensitive potassium (K-ATP) channel. Each K-ATP channel consists of eight subunits, four produced from the KCNJ11 gene and four from the ABCC8 gene.  K-ATP channels are found across cell membranes in the insulin-secreting beta cells of the pancreas. These channels open and close in response to the amount of glucose in the bloodstream. Closure of the channels in response to increased glucose triggers the release of insulin out of beta cells and into the bloodstream, which helps control blood sugar levels.  Mutations in the KCNJ11 or ABCC8 gene that cause permanent neonatal diabetes mellitus result in K-ATP channels that do not close, leading to reduced insulin secretion from beta cells and impaired blood sugar control.  Mutations in the INS gene, which provides instructions for making insulin, have been identified in about 20 percent of individuals with permanent neonatal diabetes mellitus. Insulin is produced in a precursor form called proinsulin, which consists of a single chain of protein building blocks (amino acids). The proinsulin chain is cut (cleaved) to form individual pieces called the A and B chains, which are joined together by connections called disulfide bonds to form insulin. Mutations in the INS gene are believed to disrupt the cleavage of the proinsulin chain or the binding of the A and B chains to form insulin, leading to impaired blood sugar control.  Permanent neonatal diabetes mellitus can also be caused by mutations in other genes, some of which have not been identified.


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[User] Is trimethylaminuria inherited ?

[Assistant] Most cases of trimethylaminuria appear to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but typically do not show signs and symptoms of the condition. Carriers of an FMO3 mutation, however, may have mild symptoms of trimethylaminuria or experience temporary episodes of strong body odor.


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[User] What are the genetic changes related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?

[Assistant] Mutations in the TREM2 gene or the TYROBP gene (also called DAP12) can cause PLOSL. The proteins produced from these two genes work together to activate certain kinds of cells. These proteins appear to be particularly important in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. These cells are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. The TREM2 and TYROBP proteins are also critical for the normal function of microglia, which are a type of immune cell in the brain and spinal cord (central nervous system). Although these proteins play essential roles in osteoclasts and microglia, their exact function in these cells is unclear.  Mutations in the TREM2 or TYROBP gene disrupt normal bone growth and lead to progressive brain abnormalities in people with PLOSL. Researchers believe that the bone changes seen with this disorder are related to malfunctioning osteoclasts, which are less able to resorb bone tissue during bone remodeling. In the central nervous system, TREM2 or TYROBP mutations cause widespread abnormalities of microglia. Researchers are working to determine how these abnormalities lead to the progressive neurological problems associated with PLOSL.


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[User] What is (are) Laryngeal Cancer ?

[Assistant]
Key Points
                    - Laryngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the larynx.    - Use of tobacco products and drinking too much alcohol can affect the risk of laryngeal cancer.    - Signs and symptoms of laryngeal cancer include a sore throat and ear pain.     - Tests that examine the throat and neck are used to help detect (find), diagnose, and stage laryngeal cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Laryngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the larynx.
                    The larynx is a part of the throat, between the base of the tongue and the trachea. The larynx contains the vocal cords, which vibrate and make sound when air is directed against them. The sound echoes through the pharynx, mouth, and nose to make a person's voice.   There are three main parts of the larynx:          -  Supraglottis: The upper part of the larynx above the vocal cords, including the epiglottis.    -  Glottis: The middle part of the larynx where the vocal cords are located.    -  Subglottis: The lower part of the larynx between the vocal cords and the trachea (windpipe).         Most laryngeal cancers form in squamous cells, the thin, flat cells lining the inside of the larynx.    Laryngeal cancer is a type of head and neck cancer.


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[User] What causes Cerebellar degeneration ?

[Assistant] What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebellum and other brain structures. Cerebellar cortical atrophy, multisystem atrophy and olivopontocerebellar degeneration are progressive degenerative disorders that affect various parts of the nervous system, including the cerebellum. Spinocerebellar ataxias, including Friedreich ataxia, are caused by inherited changes (mutations) in many different genes and are characterized by cell death in the cerebellum, brain stem, and spinal cord. Transmissible spongiform encephalopathies (such as 'Mad Cow Disease' and Creutzfeldt-Jakob disease) are associated with inflammation of the brain, particularly in the cerebellum, that is caused by abnormal proteins. Multiple sclerosis occurs when the insulating membrane (myelin) that wraps around and protects nerve cells (including those of the cerebellum) become damaged. Other conditions that can lead to temporary or permanent cerebellar damage include chronic alcohol abuse and paraneoplastic disorders.


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[User] How to prevent Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?

[Assistant]
Yes. The results of the Diabetes Prevention Program (DPP) proved that weight loss through moderate diet changes and physical activity can delay or prevent type 2 diabetes. The DPP was a federally funded study of 3,234 people at high risk for diabetes. This study showed that a 5-to 7-percent weight loss, which for a 200-pound person would be 10 to 14 pounds, slowed development of type 2 diabetes.

People at High Risk for Diabetes

DPP study participants were overweight and had higher than normal levels of blood glucose, a condition called prediabetes. Many had family members with type 2 diabetes. Prediabetes, obesity, and a family history of diabetes are strong risk factors for type 2 diabetes. About half of the DPP participants were from minority groups with high rates of diabetes, including African Americans, Alaska Natives, American Indians, Asian Americans, Hispanics/Latinos, and Pacific Islander Americans.

DPP participants also included others at high risk for developing type 2 diabetes, such as women with a history of gestational diabetes and people age 60 and older.

Approaches to Preventing Diabetes

The DPP tested three approaches to preventing diabetes:

- Making lifestyle changes. People in the lifestyle change group exercised, usually by walking 5 days a week for about 30 minutes a day, and lowered their intake of fat and calories.  - Taking the diabetes medicine metformin. Those who took metformin also received information about physical activity and diet.  - Receiving education about diabetes. The third group only received information about physical activity and diet and took a placeboa pill without medicine in it.

People in the lifestyle change group showed the best outcomes. But people who took metformin also benefited. The results showed that by losing an average of 15 pounds in the first year of the study, people in the lifestyle change group reduced their risk of developing type 2 diabetes by 58 percent over 3 years. Lifestyle change was even more effective in those age 60 and older. People in this group reduced their risk by 71 percent. But people in the metformin group also benefited, reducing their risk by 31 percent. More information about the DPP, funded under National Institutes of Health (NIH) clinical trial number NCT00004992, is available at www.bsc.gwu.edu/dpp.

Lasting Results

The Diabetes Prevention Program Outcomes Study (DPPOS) has shown that the benefits of weight loss and metformin last for at least 10 years. The DPPOS has continued to follow most DPP participants since the DPP ended in 2001. The DPPOS showed that 10 years after enrolling in the DPP,

- people in the lifestyle change group reduced their risk for developing diabetes by 34 percent  - those in the lifestyle change group age 60 or older had even greater benefit, reducing their risk of developing diabetes by 49 percent  - participants in the lifestyle change group also had fewer heart and blood vessel disease risk factors, including lower blood pressure and triglyceride levels, even though they took fewer medicines to control their heart disease risk  - the metformin group reduced the risk of developing diabetes by 18 percent

Even though controlling your weight with lifestyle changes is challenging, it produces long-term health rewards by lowering your risk for type 2 diabetes, lowering your blood glucose levels, and reducing other heart disease risk factors. More information about the DPPOS, funded under NIH clinical trial number NCT00038727, can be found at www.bsc.gwu.edu/dpp.

Other Types of Diabetes   In addition to type 2, the other main types of diabetes are type 1 diabetes and gestational diabetes.  Type 1 Diabetes   Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. In this type of diabetes, your pancreas can no longer make insulin because your bodys immune system has attacked and destroyed the cells that make it. Treatment for type 1 diabetes includes taking insulin shots or using an insulin pump, making wise food choices, being physically active on a regular basis, controlling blood pressure and cholesterol, and, for some, taking aspirin daily.  Gestational Diabetes   Gestational diabetes is a type of diabetes that develops only during pregnancy. Hormones produced by your placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If your pancreas cant produce enough insulin, gestational diabetes occurs.   As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. Gestational diabetes occurs more often in some ethnic groups and among women with a family history of diabetes.   Although gestational diabetes usually goes away after the baby is born, a woman who has had gestational diabetes is more likely to develop type 2 diabetes later in life. Babies born to mothers who had gestational diabetes are also more likely to develop obesity and type 2 diabetes as they grow up.


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[User] What are the treatments for Cardiogenic Shock ?

[Assistant]
Cardiogenic shock is life threatening and requires emergency medical treatment. The condition usually is diagnosed after a person has been admitted to a hospital for a heart attack. If the person isn't already in a hospital, emergency treatment can start as soon as medical personnel arrive.

The first goal of emergency treatment for cardiogenic shock is to improve the flow of blood and oxygen to the bodys organs.

Sometimes both the shock and its cause are treated at the same time. For example, doctors may quickly open a blocked blood vessel that's damaging the heart. Often, this can get the patient out of shock with little or no additional treatment.

Emergency Life Support

Emergency life support treatment is needed for any type of shock. This treatment helps get oxygen-rich blood flowing to the brain, kidneys, and other organs.

Restoring blood flow to the organs keeps the patient alive and may prevent long-term damage to the organs. Emergency life support treatment includes:

Giving the patient extra oxygen to breathe so that more oxygen reaches the lungs, the heart, and the rest of the body.

Providing breathing support if needed. A ventilator might be used to protect the airway and provide the patient with extra oxygen. A ventilator is a machine that supports breathing.

Giving the patient fluids, including blood and blood products, through a needle inserted in a vein (when the shock is due to blood loss). This can help get more blood to major organs and the rest of the body. This treatment usually isnt used for cardiogenic shock because the heart can't pump the blood that's already in the body. Also, too much fluid is in the lungs, making it hard to breathe.

Medicines

During and after emergency life support treatment, doctors will try to find out whats causing the shock. If the reason for the shock is that the heart isn't pumping strongly enough, then the diagnosis is cardiogenic shock.

Treatment for cardiogenic shock will depend on its cause. Doctors may prescribe medicines to:

Prevent blood clots from forming

Increase the force with which the heart muscle contracts

Treat a heart attack

Medical Devices

Medical devices can help the heart pump and improve blood flow. Devices used to treat cardiogenic shock may include:

An intra-aortic balloon pump. This device is placed in the aorta, the main blood vessel that carries blood from the heart to the body. A balloon at the tip of the device is inflated and deflated in a rhythm that matches the hearts pumping rhythm. This allows the weakened heart muscle to pump as much blood as it can, which helps get more blood to vital organs, such as the brain and kidneys.

A left ventricular assist device (LVAD). This device is a battery-operated pump that takes over part of the hearts pumping action. An LVAD helps the heart pump blood to the body. This device may be used if damage to the left ventricle, the hearts main pumping chamber, is causing shock.

Medical Procedures and Surgery

Sometimes medicines and medical devices aren't enough to treat cardiogenic shock.

Medical procedures and surgery can restore blood flow to the heart and the rest of the body, repair heart damage, and help keep a patient alive while he or she recovers from shock.

Surgery also can improve the chances of long-term survival. Surgery done within 6 hours of the onset of shock symptoms has the greatest chance of improving survival.

The types of procedures and surgery used to treat underlying causes of cardiogenic shock include:

Percutaneous coronary intervention (PCI) and stents. PCI,also known as coronary angioplasty,is a procedure used to open narrowed or blocked coronary (heart) arteries and treat an ongoing heart attack. A stent is a small mesh tube that's placed in a coronary artery during PCI to help keep it open.

Coronary artery bypass grafting. For this surgery, arteries or veins from other parts of the body are used to bypass (that is, go around) narrowed coronary arteries. This creates a new passage for oxygen-rich blood to reach the heart.

Surgery to repair damaged heart valves.

Surgery to repair a break in the wall that separates the hearts chambers. This break is called a septal rupture.

Heart transplant. This type of surgery rarely is done during an emergency situation like cardiogenic shock because of other available options. Also, doctors need to do very careful testing to make sure a patient will benefit from a heart transplant and to find a matching heart from a donor. Still, in some cases, doctors may recommend a transplant if they feel it's the best way to improve a patient's chances of long-term survival.


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[User] What is (are) Viral Hepatitis: A through E and Beyond ?

[Assistant]
Viral hepatitis is inflammation of the liver caused by a virus. Several different viruses, named the hepatitis A, B, C, D, and E viruses, cause viral hepatitis.

All of these viruses cause acute, or short-term, viral hepatitis. The hepatitis B, C, and D viruses can also cause chronic hepatitis, in which the infection is prolonged, sometimes lifelong. Chronic hepatitis can lead to cirrhosis, liver failure, and liver cancer.

Researchers are looking for other viruses that may cause hepatitis, but none have been identified with certainty. Other viruses that less often affect the liver include cytomegalovirus; Epstein-Barr virus, also called infectious mononucleosis; herpesvirus; parvovirus; and adenovirus.


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[User] What is (are) Knee Replacement ?

[Assistant] You can learn more about knee replacement from the following resources. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)   Information Clearinghouse  National Institutes of Health  1 AMS Circle  Bethesda, MD 20892-3675  Phone: 301-495-4484  Toll Free: 877-22-NIAMS (226-4267)  TTY: 301-565-2966  Fax: 301-718-6366  Email: NIAMSinfo@mail.nih.gov  Website:  http://www.niams.nih.gov American Physical Therapy Association  Website: http://www.apta.org  Arthritis Foundation  Website:  http://www.arthritis.org The Knee Society  Website:  http://www.kneesociety.org  MedlinePlus  Website: http://www.nlm.nih.gov/medlineplus/kneereplacement.html


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

[Assistant] Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown.


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[User] What are the treatments for Autoimmune atrophic gastritis ?

[Assistant] How might autoimmune atrophic gastritis be treated? The treatment of autoimmune atrophic gastritis is generally focused on preventing and/or alleviating signs and symptoms of the condition. For example, management is focused on preventing vitamin B12, folate and iron deficiencies in the early stages of the condition. With adequate supplementation of these vitamins and minerals, anemia and other health problems may be avoided. If pernicious anemia is already present at the time of diagnosis, replacement of vitamin B12 is generally recommended via injections. In some cases, endoscopic surveillance may also be recommended due to the increased risk of certain types of cancer. While surgery may be appropriate for the treatment of related cancers, we are not aware of surgical management options or recommendations otherwise. Symptoms of gastritis in general may be managed with prescription or over-the-counter medications (besides antibiotics for H. pylori-associated gastritis) that block or reduce acid production and promote healing. Proton pump inhibitors reduce acid by blocking the action of the parts of cells that produce acid. Examples may include omeprazole, lansoprazole, rabeprazole, esomeprazole, dexlansoprazole and pantoprazole. Histamine (H-2) blockers reduce the amount of acid released into the digestive tract, which relieves gastritis pain and promotes healing. Examples include ranitidine, famotidine, cimetidine and nizatidine. Antacids that neutralize stomach acid and provide pain relief may also be used. We are not aware of dietary guidelines or recommendations for autoimmune atrophic gastritis. Much of the literature on dietary management of gastritis is specific to H. Pylori-associated gastritis. However, people with gastritis in general may find some relief by eating smaller, more-frequent meals; avoiding irritating foods; avoiding alcohol; switching pain relievers; and managing stress.


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[User] Do you have information about Germs and Hygiene

[Assistant] Summary : When you cough or sneeze, you send tiny germ-filled droplets into the air. Colds and flu usually spread that way. You can help stop the spread of germs by       - Covering your mouth and nose when you sneeze or cough. Sneeze or cough into your elbow, not your hands.    - Cleaning your hands often - always before you eat or prepare food, and after you use the bathroom or change a diaper     - Avoiding touching your eyes, nose or mouth       Hand washing is one of the most effective and most overlooked ways to stop disease. Soap and water work well to kill germs. Wash for at least 20 seconds and rub your hands briskly. Disposable hand wipes or gel sanitizers also work well.


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[User] Is rippling muscle disease inherited ?

[Assistant] Rippling muscle disease is usually inherited in an autosomal dominant pattern, but it is occasionally inherited in an autosomal recessive pattern.  Autosomal dominant inheritance means that one copy of an altered CAV3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with rippling muscle disease or another caveolinopathy. Rare cases result from new mutations in the gene and occur in people with no history of caveolinopathies in their family.  Autosomal recessive inheritance means that both copies of the CAV3 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. People with autosomal recessive rippling muscle disease generally have more severe signs and symptoms than do people with the autosomal dominant form.


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[User] What is (are) surfactant dysfunction ?

[Assistant] Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surrounding the air sacs in the lungs (the alveoli) sticks together (because of a force called surface tension) after exhalation, causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen to the body is impaired.  The signs and symptoms of surfactant dysfunction can vary in severity. The most severe form of this condition causes respiratory distress syndrome in newborns. Affected babies have extreme difficulty breathing and are unable to get enough oxygen. The lack of oxygen can damage the baby's brain and other organs. This syndrome leads to respiratory failure, and most babies with this form of the condition do not survive more than a few months.  Less severe forms of surfactant dysfunction cause gradual onset of breathing problems in children or adults. Signs and symptoms of these milder forms are abnormally rapid breathing (tachypnea); low concentrations of oxygen in the blood (hypoxemia); and an inability to grow or gain weight at the expected rate (failure to thrive).  There are several types of surfactant dysfunction, which are identified by the genetic cause of the condition. One type, called SP-B deficiency, causes respiratory distress syndrome in newborns. Other types, known as SP-C dysfunction and ABCA3 deficiency, have signs and symptoms that range from mild to severe.


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[User] How to prevent Thrombocytopenia ?

[Assistant]
Whether you can prevent thrombocytopenia depends on its specific cause. Usually the condition can't be prevented. However, you can take steps to prevent health problems associated with thrombocytopenia. For example:

Avoid heavy drinking. Alcohol slows the production of platelets.

Try to avoid contact with toxic chemicals. Chemicals such as pesticides, arsenic, and benzene can slow the production of platelets.

Avoid medicines that you know have decreased your platelet count in the past.

Be aware of medicines that may affect your platelets and raise your risk of bleeding. Two examples of such medicines are aspirin and ibuprofen. These medicines may thin your blood too much.

Talk with your doctor about getting vaccinated for viruses that can affect your platelets. You may need vaccines for mumps, measles, rubella, and chickenpox. You may want to have your child vaccinated for these viruses as well. Talk with your child's doctor about these vaccines.


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[User] What are the genetic changes related to microphthalmia with linear skin defects syndrome ?

[Assistant] Mutations in the HCCS gene or a deletion of genetic material that includes the HCCS gene cause microphthalmia with linear skin defects syndrome. The HCCS gene carries instructions for producing an enzyme called holocytochrome c-type synthase. This enzyme is active in many tissues of the body and is found in the mitochondria, the energy-producing centers within cells.  Within the mitochondria, the holocytochrome c-type synthase enzyme helps produce a molecule called cytochrome c. Cytochrome c is involved in a process called oxidative phosphorylation, by which mitochondria generate adenosine triphosphate (ATP), the cell's main energy source. It also plays a role in the self-destruction of cells (apoptosis).  HCCS gene mutations result in a holocytochrome c-type synthase enzyme that cannot perform its function. A deletion of genetic material that includes the HCCS gene prevents the production of the enzyme. A lack of functional holocytochrome c-type synthase enzyme can damage cells by impairing their ability to generate energy. In addition, without the holocytochrome c-type synthase enzyme, the damaged cells may not be able to undergo apoptosis. These cells may instead die in a process called necrosis that causes inflammation and damages neighboring cells. During early development this spreading cell damage may lead to the eye abnormalities and other signs and symptoms of microphthalmia with linear skin defects syndrome.


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[User] What are the treatments for progressive external ophthalmoplegia ?

[Assistant] These resources address the diagnosis or management of progressive external ophthalmoplegia:  - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes  - Gene Review: Gene Review: POLG-Related Disorders  - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1  - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2  - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3  - Genetic Testing Registry: Progressive external ophthalmoplegia  - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease   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 many people are affected by spinocerebellar ataxia type 3 ?

[Assistant] The prevalence of SCA3 is unknown. This condition is thought to be the most common type of spinocerebellar ataxia; however, all types of spinocerebellar ataxia are relatively rare.


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[User] What are the treatments for spastic paraplegia type 4 ?

[Assistant] These resources address the diagnosis or management of spastic paraplegia type 4:  - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview  - Gene Review: Gene Review: Spastic Paraplegia 4  - Genetic Testing Registry: Spastic paraplegia 4, autosomal dominant  - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies   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) Pneumonia ?

[Assistant] Pneumonia is an infection in one or both of the lungs. Many germs, such as bacteria, viruses, and fungi, can cause pneumonia. You can also get pneumonia by inhaling a liquid or chemical. People most at risk are older than 65 or younger than 2 years of age, or already have health problems.    Symptoms of pneumonia vary from mild to severe. See your doctor promptly if you       - Have a high fever    - Have shaking chills    - Have a cough with phlegm that doesn't improve or gets worse    - Develop shortness of breath with normal daily activities    - Have chest pain when you breathe or cough    - Feel suddenly worse after a cold or the flu       Your doctor will use your medical history, a physical exam, and lab tests to diagnose pneumonia. Treatment depends on what kind you have. If bacteria are the cause, antibiotics should help. If you have viral pneumonia, your doctor may prescribe an antiviral medicine to treat it.    Preventing pneumonia is always better than treating it. Vaccines are available to prevent pneumococcal pneumonia and the flu. Other preventive measures include washing your hands frequently and not smoking.    NIH: National Heart, Lung, and Blood Institute


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[User] What are the treatments for Diabetic Retinopathy ?

[Assistant] Preventing Disease Progression During the first three stages of diabetic retinopathy, no treatment is needed, unless you have macular edema. To prevent progression of diabetic retinopathy, people with diabetes should control their levels of blood sugar, blood pressure, and blood cholesterol. Treatment for Macular Edema Research found that that prompt treatment of macular edema with anti-VEGF drugs, with or without laser treatment, resulted in better vision than laser treatment alone or steroid injections. When injected into the eye, these drugs reduce fluid leakage and interfere with the growth of new blood vessels in the retina. In some cases, focal laser treatment is used along with the eye injections. Your doctor places up to several hundred small laser burns in the areas of the retina around the macula that are leaking. These burns slow the leakage of fluid and reduce the amount of fluid in the retina. The surgery is usually completed in one session. Further treatment may be needed. Treatment for Diabetic Retinopathy Proliferative retinopathy is treated with laser surgery. This procedure is called scatter laser treatment. Scatter laser treatment helps to shrink the abnormal blood vessels. Your doctor places 1,000 to 2,000 laser burns in the areas of the retina away from the macula, causing the abnormal blood vessels to shrink. Because a high number of laser burns are necessary, two or more sessions usually are required to complete treatment. Although you may notice some loss of your side vision, scatter laser treatment can save the rest of your sight. Scatter laser treatment may slightly reduce your color vision and night vision. Scatter laser treatment works better before the fragile, new blood vessels have started to bleed. That is why it is important to have regular, comprehensive dilated eye exams. Even if bleeding has started, scatter laser treatment may still be possible, depending on the amount of bleeding.  Learn more about laser treatment.  Vitrectomy If the bleeding is severe, you may need a surgical procedure called a vitrectomy. During a vitrectomy, blood is removed from the center of your eye. Scatter laser treatment and vitrectomy are effective in treating proliferative retinopathy and in reducing vision loss. Once you have proliferative retinopathy, you always will be at risk for new bleeding. You may need treatment more than once to protect your sight.  Learn more about a vitrectomy.  Have Dilated Eye Exams The National Eye Institute (NEI) urges everyone with diabetes to have a comprehensive dilated eye exam at least once a year. If you have diabetic retinopathy, you may need an exam more often. People with proliferative retinopathy can reduce their risk of blindness by 95 percent with timely treatment and appropriate follow-up care.  Watch an animation to see what a comprehensive dilated eye exam includes.  Research The National Eye Institute, or NEI, is conducting and supporting research that seeks better ways to detect, treat, and prevent vision loss in people with diabetes. This research is conducted through studies in the laboratory and with patients. For example, researchers are studying drugs for the treatment of proliferative retinopathy that may reduce the need for laser surgery. A major study has shown that better control of blood sugar levels slows the onset and progression of retinopathy. The people with diabetes who kept their blood sugar levels as close to normal as possible also had much less kidney and nerve disease. Better control also reduces the need for sight-saving laser surgery.


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[User] What is (are) What I need to know about Hirschsprung Disease ?

[Assistant]
Hirschsprung* disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. Constipation means stool moves through the intestines slower than usual. Bowel movements occur less often than normal and stools are difficult to pass. Some children with HD cant pass stool at all, which can result in the complete blockage of the intestines, a condition called intestinal obstruction. People with HD are born with it and are usually diagnosed when they are infants. Less severe cases are sometimes diagnosed when a child is older. An HD diagnosis in an adult is rare.

*See Pronunciation Guide for tips on how to say the words in bold type.


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[User] What is the outlook for Syncope ?

[Assistant] Syncope is a dramatic event and can be life-threatening if not treated properly. Generally, however, people recover completely within minutes to hours. If syncope is symptomatic of an underlying condition, then the prognosis will reflect the course of the disorder.


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[User] What are the treatments for Adrenal Insufficiency and Addison's Disease ?

[Assistant]
Adrenal crisis is treated with adrenal hormones. People with adrenal crisis need immediate treatment. Any delay can cause death. When people with adrenal crisis are vomiting or unconscious and cannot take their medication, the hormones can be given as an injection.

A person with adrenal insufficiency should carry a corticosteroid injection at all times and make sure that others know how and when to administer the injection, in case the person becomes unconscious.

The dose of corticosteroid needed may vary with a persons age or size. For example, a child younger than 2 years of age can receive 25 milligrams (mg), a child between 2 and 8 years of age can receive 50 mg, and a child older than 8 years should receive the adult dose of 100 mg.


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[User] What are the treatments for High Blood Pressure ?

[Assistant]
Based on your diagnosis, health care providers develop treatment plans for high blood pressure that include lifelong lifestyle changes and medicines to control high blood pressure; lifestyle changes such as weight loss can be highly effective in treating high blood pressure.

Treatment Plans

Health care providers work with you to develop a treatment plan based on whether you were diagnosed with primary or secondary high blood pressure and if there is a suspected or known cause. Treatment plans may evolve until blood pressure control is achieved.

If your health care provider diagnoses you with secondary high blood pressure, he or she will work to treat the other condition or change the medicine suspected of causing your high blood pressure. If high blood pressure persists or is first diagnosed as primary high blood pressure, your treatment plan will include lifestyle changes. When lifestyle changes alone do not control or lower blood pressure, your health care provider may change or update your treatment plan by prescribing medicines to treat the disease. Health care providers prescribe children and teens medicines at special doses that are safe and effective in children.

If your health care provider prescribes medicines as a part of your treatment plan, keep up your healthy lifestyle habits. The combination of the medicines and the healthy lifestyle habits helps control and lower your high blood pressure.

Some people develop resistant or uncontrolled high blood pressure. This can happen when the medications they are taking do not work well for them or another medical condition is leading to uncontrolled blood pressure. Health care providers treat resistant or uncontrolled high blood pressure with an intensive treatment plan that can include a different set of blood pressure medications or other special treatments.

To achieve the best control of your blood pressure, follow your treatment plan and take all medications as prescribed. Following your prescribed treatment plan is important because it can prevent or delay complications that high blood pressure can cause and can lower your risk for other related problems.

Healthy Lifestyle Changes

Healthy lifestyle habits can help you control high blood pressure. These habits include:

Healthy eating

Being physically active

Maintaining a healthy weight

Limiting alcohol intake

Managing and coping with stress

To help make lifelong lifestyle changes, try making one healthy lifestyle change at a time and add another change when you feel that you have successfully adopted the earlier changes. When you practice several healthy lifestyle habits, you are more likely to lower your blood pressure and maintain normal blood pressure readings.

Healthy Eating

To help treat high blood pressure, health care providers recommend that you limit sodium and salt intake, increase potassium, and eat foods that are heart healthy.

Limiting Sodium and Salt

A low-sodium diet can help you manage your blood pressure. You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 mg sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more.

Your health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and salt.

The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about the DASH eating plan.

Heart-Healthy Eating

Your health care provider also may recommend heart-healthy eating, which should include:

Whole grains

Fruits, such as apples, bananas, oranges, pears, and prunes

Vegetables, such as broccoli, cabbage, and carrots

Legumes, such as kidney beans, lentils, chick peas, black-eyed peas, and lima beans

Fat-free or low-fat dairy products, such as skim milk

Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week

When following a heart-healthy diet, you should avoid eating:

A lot of red meat

Palm and coconut oils

Sugary foods and beverages

In the National Heart, Lung, and Blood Institute (NHLBI)-sponsored Hispanic Community Health Study/Study of Latinos, which studied Hispanics living in the United States, Cubans ate more sodium and Mexicans ate less sodium than other Hispanic groups in the study. All Hispanic Americans should follow these healthy eating recommendations even when cooking traditional Latino dishes. Try some of these popular Hispanic American heart-healthy recipes.

Being Physically Active

Routine physical activity can lower high blood pressure and reduce your risk for other health problems. Talk with your health care provider before you start a new exercise plan. Ask him or her how much and what kinds of physical activity are safe for you.

Everyone should try to participate in moderate-intensity aerobic exercise at least 2 hours and 30minutes per week, or vigorous-intensity aerobic exercise for 1 hour and 15 minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats harder and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10 minutes at a time, spread throughout the week.

Read more about physical activity:

Physical Activity and Your Heart

U.S. Department of Health and Human Services'2008 Physical Activity Guidelines for Americans

Maintaining a Healthy Weight

Maintaining a healthy weight can help you control high blood pressure and reduce your risk for other health problems. If youre overweight or obese, try to lose weight. A loss of just 3 to 5 percent can lower your risk for health problems. Greater amounts of weight loss can improve blood pressure readings, lowerLDL cholesterol, and increase HDL cholesterol. However, research shows that no matter your weight, it is important to control high blood pressure to maintain good health.

A useful measure of overweight and obesity is body mass index (BMI). BMI measures your weight in relation to your height. To figure out your BMI, check out NHLBIs online BMI calculator or talk to yourhealth care provider.

A BMI:

Below 18.5 is a sign that you are underweight.

Between 18.5 and 24.9 is in the healthy range.

Between 25 and 29.9 is considered overweight.

Of 30 or more is considered obese.

A general goal to aim for is a BMI below 25. Your health care provider can help you set an appropriate BMI goal.

Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. For more information about losing weight or maintaining your weight, go to Aim for a Healthy Weight.

Limiting Alcohol Intake

Limit alcohol intake. Too much alcohol will raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain.

Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is:

12 ounces of beer

5 ounces of wine

1 ounces of liquor

Managing and Coping With Stress

Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health and can lower high blood pressure. Stress management techniques include:

Being physically active

Listening to music or focusing on something calm or peaceful

Performing yoga or tai chi

Meditating

Medicines

Blood pressure medicines work in different ways to stop or slow some of the bodys functions that cause high blood pressure. Medicines to lower blood pressure include:

Diuretics (Water or Fluid Pills): Flush excess sodium from your body, which reduces the amount of fluid in your blood and helps to lower your blood pressure. Diuretics are often used with other high blood pressure medicines, sometimes in one combined pill.

Beta Blockers: Help your heart beat slower and with less force. As a result, your heart pumps less blood through your blood vessels, which can help to lower your blood pressure.

Angiotensin-Converting Enzyme (ACE) Inhibitors: Angiotensin-II is a hormone that narrows blood vessels, increasing blood pressure. ACE converts Angiotensin I to Angiotensin II. ACE inhibitors block this process, which stops the production of Angiotensin II, lowering blood pressure.

Angiotensin II Receptor Blockers (ARBs): Block angiotensin II hormone from binding with receptors in the blood vessels. When angiotensin II is blocked, the blood vessels do not constrict or narrow, which can lower your blood pressure.

Calcium Channel Blockers: Keep calcium from entering the muscle cells of your heart and blood vessels. This allows blood vessels to relax, which can lower your blood pressure.

Alpha Blockers: Reduce nerve impulses that tighten blood vessels. This allows blood to flow more freely, causing blood pressure to go down.

Alpha-Beta Blockers: Reduce nerve impulses the same way alpha blockers do. However, like beta blockers, they also slow the heartbeat. As a result, blood pressure goes down.

Central Acting Agents: Act in the brain to decrease nerve signals that narrow blood vessels, which can lower blood pressure.

Vasodilators: Relax the muscles in blood vessel walls, which can lower blood pressure.

To lower and control blood pressure, many people take two or more medicines. If you have side effects from your medicines, dont stop taking your medicines. Instead, talk with your health care provider about the side effects to see if the dose can be changed or a new medicine prescribed.

Future Treatments

Scientists, doctors, and researchers continue to study the changes that cause high blood pressure, to develop new medicines and treatments to control high blood pressure. Possible future treatments under investigation include new combination medicines, vaccines, and interventions aimed at the sympathetic nervous system, such as kidney nerve ablation.


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[User] What is (are) Lennox-Gastaut syndrome ?

[Assistant] Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability.  People with Lennox-Gastaut syndrome begin having frequent seizures in early childhood, usually between ages 3 and 5. More than three-quarters of affected individuals have tonic seizures, which cause the muscles to stiffen (contract) uncontrollably. These seizures occur most often during sleep. Also common are atypical absence seizures, which cause a partial or complete loss of consciousness. Additionally, many affected individuals have drop attacks, which are sudden episodes of weak muscle tone. Drop attacks can result in falls that cause serious or life-threatening injuries. Other types of seizures have been reported less frequently in people with Lennox-Gastaut syndrome.  Most of the seizures associated with Lennox-Gastaut syndrome are very brief. However, more than two-thirds of affected individuals experience at least one prolonged period of seizure activity known as nonconvulsive status epilepticus. These episodes can cause confusion and a loss of alertness lasting from hours to weeks.  Almost all children with Lennox-Gastaut syndrome develop learning problems and intellectual disability associated with their frequent seizures. Because the seizures associated with this condition are difficult to control with medication, the intellectual disability tends to worsen with time. Some affected children develop additional neurological abnormalities and behavioral problems. Many also have delayed development of motor skills such as sitting and crawling. As a result of their seizures and progressive intellectual disability, most people with Lennox-Gastaut syndrome require help with some or all of the usual activities of daily living. However, a small percentage of affected adults live independently.  People with Lennox-Gastaut syndrome have an increased risk of death compared to their peers of the same age. Although the increased risk is not fully understood, it is partly due to poorly controlled seizures and injuries from falls.


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[User] Is VACTERL association inherited ?

[Assistant] Most cases of VACTERL association are sporadic, which means they occur in people with no history of the condition in their family. Rarely, families have multiple people affected with VACTERL association. A few affected individuals have family members with one or two features, but not enough signs to be diagnosed with the condition. In these families, the features of VACTERL association often do not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition and how severe the condition will be in an individual.


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[User] What are the symptoms of Globozoospermia ?

[Assistant] What are the signs and symptoms of Globozoospermia? The Human Phenotype Ontology provides the following list of signs and symptoms for Globozoospermia. 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 - Globozoospermia - 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 Paget disease of bone inherited ?

[Assistant] In 15 to 40 percent of all cases of classic Paget disease of bone, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that having one copy of an altered gene in each cell is sufficient to cause the disorder.  In the remaining cases, the inheritance pattern of classic Paget disease of bone is unclear. Many affected people have no family history of the disease, although it sometimes clusters in families. Studies suggest that close relatives of people with classic Paget disease of bone are 7 to 10 times more likely to develop the disease than people without an affected relative.  Early-onset Paget disease of bone is inherited in an autosomal dominant pattern. In people with this form of the disorder, having one altered copy of the TNFRSF11A gene in each cell is sufficient to cause the disease.


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[User] What are the symptoms of Morquio syndrome B ?

[Assistant] What are the signs and symptoms of Morquio syndrome B? The Human Phenotype Ontology provides the following list of signs and symptoms for Morquio syndrome B. 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) Aortic valve stenosis - Autosomal recessive inheritance - Carious teeth - Cervical myelopathy - Cervical subluxation - Coarse facial features - Constricted iliac wings - Coxa valga - Decreased beta-galactosidase activity - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Genu valgum - Grayish enamel - Hearing impairment - Hepatomegaly - Hyperlordosis - Hypoplasia of the odontoid process - Inguinal hernia - Intimal thickening in the coronary arteries - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Kyphosis - Mandibular prognathia - Metaphyseal widening - Opacification of the corneal stroma - Osteoporosis - Ovoid vertebral bodies - Platyspondyly - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Scoliosis - Ulnar deviation of the wrist - Wide mouth - 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] What causes Aneurysm ?

[Assistant]
The force of blood pushing against the walls of an artery combined with damage or injury to the arterys walls can cause an aneurysm.

Many conditions and factors can damage and weaken the walls of the aorta and cause aortic aneurysms. Examples include aging, smoking, high blood pressure, and atherosclerosis (ath-er-o-skler-O-sis). Atherosclerosis is the hardening and narrowing of the arteries due to the buildup of a waxy substance called plaque (plak).

Rarely, infectionssuch as untreated syphilis (a sexually transmitted infection)can cause aortic aneurysms. Aortic aneurysms also can occur as a result of diseases that inflame the blood vessels, such as vasculitis (vas-kyu-LI-tis).

A family history of aneurysms also may play a role in causing aortic aneurysms.

In addition to the factors above, certain genetic conditions may cause thoracic aortic aneurysms (TAAs). Examples of these conditions include Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome (the vascular type), and Turner syndrome.

These genetic conditions can weaken the bodys connective tissues and damage the aorta. People who have these conditions tend to develop aneurysms at a younger age than other people. Theyre also at higher risk for rupture and dissection.

Trauma, such as a car accident, also can damage the walls of the aorta and lead to TAAs.

Researchers continue to look for other causes of aortic aneurysms. For example, theyre looking for genetic mutations (changes in the genes) that may contribute to or cause aneurysms.


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[User] What are the symptoms of Dystonia 1 ?

[Assistant] What are the signs and symptoms of Dystonia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 1. 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) Gait disturbance 90% Hypertonia 90% Abnormality of the voice 50% Incomplete penetrance 30% Abnormal posturing - Autosomal dominant inheritance - Blepharospasm - Dysarthria - Hyperlordosis - Kyphosis - Muscular hypotonia - Scoliosis - Torsion dystonia - Torticollis - Tremor - Writer's cramp - 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) primary sclerosing cholangitis ?

[Assistant] Primary sclerosing cholangitis is a condition that affects the bile ducts. These ducts carry bile (a fluid that helps to digest fats) from the liver, where bile is produced, to the gallbladder, where it is stored, and to the small intestine, where it aids in digestion. Primary sclerosing cholangitis occurs because of inflammation in the bile ducts (cholangitis) that leads to scarring (sclerosis) and narrowing of the ducts. As a result, bile cannot be released to the gallbladder and small intestine, and it builds up in the liver.  Primary sclerosing cholangitis is usually diagnosed around age 40, and for unknown reasons, it affects men twice as often as women. Many people have no signs or symptoms of the condition when they are diagnosed, but routine blood tests reveal liver problems. When apparent, the earliest signs and symptoms of primary sclerosing cholangitis include extreme tiredness (fatigue), discomfort in the abdomen, and severe itchiness (pruritus). As the condition worsens, affected individuals may develop yellowing of the skin and whites of the eyes (jaundice) and an enlarged spleen (splenomegaly). Eventually, the buildup of bile damages the liver cells, causing chronic liver disease (cirrhosis) and liver failure. Without bile available to digest them, fats pass through the body. As a result, weight loss and shortages of vitamins that are absorbed with and stored in fats (fat-soluble vitamins) can occur. A fat-soluble vitamin called vitamin D helps absorb calcium and helps bones harden, and lack of this vitamin can cause thinning of the bones (osteoporosis) in people with primary sclerosing cholangitis.  Primary sclerosing cholangitis is often associated with another condition called inflammatory bowel disease, which is characterized by inflammation of the intestines that causes open sores (ulcers) in the intestines and abdominal pain. However, the reason for this link is unclear. Approximately 70 percent of people with primary sclerosing cholangitis have inflammatory bowel disease, most commonly a form of the condition known as ulcerative colitis. In addition, people with primary sclerosing cholangitis are more likely to have an autoimmune disorder, such as type 1 diabetes, celiac disease, or thyroid disease, than people without the condition. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. People with primary sclerosing cholangitis also have an increased risk of developing cancer, particularly cancer of the bile ducts (cholangiocarcinoma).


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[User] What is (are) Plasma cell leukemia ?

[Assistant] Plasma cell leukemia (PCL) is a rare and aggressive form of multiple myeloma that involves high levels of plasma cells circulating in the peripheral blood. The signs and symptoms of PCL include aggressive clinical features, such as extramedullary disease, bone marrow failure, advanced stage disease and expression of distinct immunophenotypic markers. Different types of treatments are available for patients with PCL. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. For detailed information on the available treatment options, please visit the following link. http://www.cancer.gov/cancertopics/pdq/treatment/myeloma/Patient/page4


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[User] How many people are affected by primary hyperoxaluria ?

[Assistant] Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 and 3 each account for about 10 percent of cases.


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[User] What are the complications of Inguinal Hernia ?

[Assistant]
Inguinal hernias can cause the following complications:

- Incarceration. An incarcerated hernia happens when part of the fat or small intestine from inside the abdomen becomes stuck in the groin or scrotum and cannot go back into the abdomen. A health care provider is unable to massage the hernia back into the abdomen.  - Strangulation. When an incarcerated hernia is not treated, the blood supply to the small intestine may become obstructed, causing strangulation of the small intestine. This lack of blood supply is an emergency situation and can cause the section of the intestine to die.

Seek Immediate Care   People who have symptoms of an incarcerated or a strangulated hernia should seek emergency medical help immediately. A strangulated hernia is a life-threatening condition. Symptoms of an incarcerated or a strangulated hernia include   - extreme tenderness or painful redness in the area of the bulge in the groin   - sudden pain that worsens quickly and does not go away   - the inability to have a bowel movement and pass gas   - nausea and vomiting   - fever


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[User] How many people are affected by spondyloenchondrodysplasia with immune dysregulation ?

[Assistant] SPENCDI appears to be a rare condition, although its prevalence is unknown.


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[User] Is Denys-Drash syndrome 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] What is (are) Miyoshi myopathy ?

[Assistant] Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.  As Miyoshi myopathy slowly progresses, the muscle weakness and atrophy spread up the leg to the muscles in the thigh and buttock. Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance.  Rarely, the upper arm or shoulder muscles are mildly affected in Miyoshi myopathy. In a few cases, abnormal heart rhythms (arrhythmias) have developed. Individuals with Miyoshi myopathy have highly elevated levels of an enzyme called creatine kinase (CK) in their blood, which often indicates muscle disease.


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[User] What is (are) Silicosis ?

[Assistant] Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20 years) to low amounts of silica dust. Simple chronic silicosis may cause people to have difficulty breathing.  Accelerated silicosis occurs after 5 to 15 years of exposure of higher levels of silica. Swelling of the lungs and other symptoms occur faster in this type of silicosis than in the simple chronic form.  Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica. The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months.  People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition.


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[User] What are the symptoms of Osteogenesis imperfecta type V ?

[Assistant] What are the signs and symptoms of Osteogenesis imperfecta type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type V. 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) Blue sclerae 5% Dentinogenesis imperfecta 5% Joint hypermobility 5% Abnormality of metabolism/homeostasis - Abnormality of pelvic girdle bone morphology - Anterior radial head dislocation - Autosomal dominant inheritance - Biconcave vertebral bodies - Hyperplastic callus formation - Limited pronation/supination of forearm - Osteopenia - Platyspondyly - Recurrent fractures - Short stature - Triangular face - Vertebral wedging - Wormian bones - 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 Spastic diplegia cerebral palsy ?

[Assistant] How might spastic diplegia cerebral palsy be treated? Treatment of spastic diplegia cerebral palsy varies based on the signs and symptoms present in each person and the severity of the condition. Affected people are often cared for by a team of healthcare providers who specialize in a variety of different medical fields (i.e. neurologists, rehabilitation physicians, social workers, physical therapists, etc). Orthotic devices (such as a walker, wheelchair or leg braces), physical therapy, and occupational therapy can help improve independent mobility. Certain medications may be prescribed to relax stiff, contracted, or overactive muscles. Orthopedic surgery is often recommended for severely affected people who have symptoms that make walking and moving difficult or painful. For more information on the treatment of spastic diplegia cerebral palsy and other forms of cerebral palsy, please click here.


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[User] What are the symptoms of Charcot-Marie-Tooth disease type 1F ?

[Assistant] What are the signs and symptoms of Charcot-Marie-Tooth disease type 1F? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1F. 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) Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Clusters of axonal regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hyporeflexia - Juvenile onset - Motor delay - Myelin outfoldings - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Variable expressivity - 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 Aplasia cutis congenita ?

[Assistant] What are the signs and symptoms of Aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita. 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) Skull defect 90% Spinal dysraphism 90% Skin ulcer 50% Abnormality of bone mineral density 7.5% Abnormality of coagulation 7.5% Facial palsy 7.5% Aplasia cutis congenita over the scalp vertex - Autosomal dominant inheritance - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for familial male-limited precocious puberty ?

[Assistant] These resources address the diagnosis or management of familial male-limited precocious puberty:  - Boston Children's Hospital: Precocious Puberty  - Genetic Testing Registry: Gonadotropin-independent familial sexual precocity   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 many people are affected by alternating hemiplegia of childhood ?

[Assistant] Alternating hemiplegia of childhood is a rare condition that affects approximately 1 in 1 million people.


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[User] What are the symptoms of IMAGe syndrome ?

[Assistant] What are the signs and symptoms of IMAGe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IMAGe syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the adrenal glands 90% Abnormality of the upper urinary tract 90% Cryptorchidism 90% Depressed nasal bridge 90% Displacement of the external urethral meatus 90% Frontal bossing 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Muscular hypotonia 90% Macrocephaly 5% Adrenal hypoplasia - Autosomal dominant inheritance - Delayed skeletal maturation - Epiphyseal dysplasia - Growth hormone deficiency - Hypercalcemia - Hypercalciuria - Hypospadias - Low-set ears - Metaphyseal dysplasia - Micropenis - Postnatal growth retardation - Prominent forehead - Short nose - 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 Chromosome 4q deletion ?

[Assistant] How might chromosome 4q deletion be treated? Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, babies with congenital heart defects and certain skeletal abnormalities may require surgery. Children with bone or muscle problems and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Please speak to your healthcare provider if you have any questions about your personal medical management plan.


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[User] What is (are) Attention Deficit-Hyperactivity Disorder ?

[Assistant] Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder that affects 3-5 percent of all American children. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioral). Some of the warning signs of ADHD include failure to listen to instructions, inability to organize oneself and school work, fidgeting with hands and feet, talking too much, leaving projects, chores and homework unfinished, and having trouble paying attention to and responding to details. There are several types of ADHD: a predominantly inattentive subtype, a predominantly hyperactive-impulsive subtype, and a combined subtype. ADHD is usually diagnosed in childhood, although the condition can continue into the adult years.


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[User] How many people are affected by congenital generalized lipodystrophy ?

[Assistant] Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and 500 people with the condition have been described in the medical literature. Although this condition has been reported in populations around the world, it appears to be more common in certain regions of Lebanon and Brazil.


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[User] What is (are) Anxiety Disorders ?

[Assistant] Anxiety disorders are a collection of disorders that include generalized anxiety disorder (GAD), social phobia, and panic disorder.


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[User] What is (are) Problems with Smell ?

[Assistant] Smell is part of our chemical sensing system. Our sense of smell is the ability to detect odors in our environment through our nose, like the fragrance of flowers or the smell of baking bread. Smell is also the ability to detect food odors or aromas released in our mouths when we chew, which then flow from the roof of the throat region to the nose. Congestion blocks this flow and impacts our appreciation of the flavor of food.


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[User] What are the symptoms of Autosomal recessive hyper IgE syndrome ?

[Assistant] What are the signs and symptoms of Autosomal recessive hyper IgE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive hyper IgE 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) Asthma 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Eczema 90% Otitis media 90% Sinusitis 90% Skin ulcer 90% Verrucae 90% Atopic dermatitis - Autosomal recessive inheritance - Cerebral vasculitis - Eosinophilia - Hemiplegia - Infantile onset - Neoplasm - Recurrent bacterial infections - Recurrent fungal infections - Recurrent sinopulmonary infections - Recurrent viral infections - Subarachnoid hemorrhage - 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 Neuroacanthocytosis ?

[Assistant] How might neuroacanthocytosis be treated? There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medications known as dopamine-receptor blocking drugs. Other antipsychotic medications as well as antidepressants and/or sedatives may also be used to treat some affected individuals. Seizures may be treated with anti-convulsants, which may also help to treat psychiatric symptoms. Anti-seizure medications that can can worsen involuntary movements are generally avoided. Dystonia has been treated with botulinum toxin to relax the muscles and reduce spasms. Because of feeding difficulties in some cases, individuals may need to have their nutrition monitored. Nutritional support, supplementation and/or a feeding tube may be necessary in some cases. Additional therapies that may be used to treat affected individuals may include speech therapy, physical therapy and occupational therapy. Mechanical devices, such as braces or a wheelchair, may benefit some people. Computer-assisted speech devices may be necessary in some cases. More detailed information about treatment for neuroacanthocytosis is available on eMedicine's Web site and can be viewed by clicking here.


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[User] How to diagnose Febrile Ulceronecrotic Mucha-Habermann disease ?

[Assistant] How is febrile ulceronecrotic Mucha-Habermann disease definitively diagnosed? FUMHD is diagnosed based upon the clinical symptoms in the patient, with confirmation by skin biopsy. Skin biopsy findings suggestive of FUMHD are outlined below. Because this information is technical we recommend that you review it with a health care provider:  Epidermis - Findings include focal confluent parakeratosis, spongiosis, dyskeratosis, mild to moderate acanthosis, vacuolization of basal layer with necrotic keratino-cytes, occasional intraepidermal vesicles, extensive epidermal necrosis. In advanced disease findings may also include extension of infiltrate into epidermis, invasion of erythrocytes, widespread epidermal necrosis, and nuclear debris in necrotic areas Dermis  Swelling, moderately dense lymphohistiocytic perivascular inflammatory infiltrate usually without atypia, extravasation of lymphocytes and erythrocytes with epidermal invasion, subepidermal vesicles in later lesions, dermal sclerosis in older lesions Vascular changes  Dilation and engorgement of blood vessels in papillary dermis with endothelial proliferation, vascular congestion, occlusion, dermal hemorrhage, and extravasation of erythrocytes Vasculitis  Fibronoid necrosis of vessel walls with leukocytoclassic vasculitis In the majority of patients, blood tests indicate leukocytosis, anemia, elevated C-reactive protein, and elevated liver enzymes. An association of FUMHD with elevated blood levels of TNF-alpha has also been described.


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[User] What is the outlook for Colpocephaly ?

[Assistant] The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. Some children benefit from special education.


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[User] What is (are) Alpha-thalassemia x-linked intellectual disability syndrome ?

[Assistant] Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms.  It is caused by mutations in the ATRX gene and is inherited in an x-linked way.  Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.


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[User] How many people are affected by 3-methylglutaconyl-CoA hydratase deficiency ?

[Assistant] 3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 cases have been reported in the scientific literature.


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[User] What is (are) Kidney Failure: Choosing a Treatment That's Right for You ?

[Assistant]
What should I know about kidney transplantation?

The purpose of kidney transplantation is to surgically place a healthy kidney from a donora person who has just died or a living person, most often a family memberinto your body. A kidney from someone who has just died is a deceased donor kidney. A kidney from a living person is a living donor kidney. A functioning kidney transplant does a better job of filtering wastes and keeping you healthy than dialysis.

How Kidney Transplantation Works

Surgeonsdoctors who specialize in surgeryplace most transplanted kidneys in the lower front part of your abdomen. The kidney is connected to an artery, which brings unfiltered blood into the kidney, and a vein, which takes filtered blood out of the kidney. The surgeon also transplants the ureter from the donor to let urine from the new kidney flow to your bladder. Unless your damaged kidneys cause problems such as infection, they can remain in their normal position. The transplanted kidney takes over the job of filtering your blood. Your body normally attacks anything it sees as foreign, so to keep your body from attacking the kidney you need to take medicines called immunosuppressants for as long as the transplanted kidney functions.

Pros and Cons of Kidney Transplantation

Following is a list of the pros and cons of kidney transplantation.

Kidney Transplantation

Pros

- A transplanted kidney works like a healthy kidney.  - If you have a living donor, you can choose the time of your operation.  - You may feel healthier and have an improved quality of life.  - You have fewer dietary restrictions.  - You wont need dialysis.  - People who receive a donated kidney have a greater chance of living a longer life than those who stay on dialysis.

Cons

- Transplantation requires surgery.  - You will go through extensive medical testing at the transplant clinic.  - You may need to wait years for a deceased donor kidney.  - Your body may reject the new kidney, so one transplant may not last a lifetime.  - Youll need to take immunosuppressants, which may cause other health problems, for as long as the transplanted kidney functions.

Questions to Ask My Doctor

You may want to ask your doctor these questions:

- Is transplantation the best treatment choice for me? Why?  - What are my chances of having a successful transplant?  - How do I find out whether a family member or friend can donate?  - What are the risks to a family member or friend who donates?  - If a family member or friend does not donate, who will place me on a waiting list for a kidney? How long will I have to wait?  - How will I know if my donor kidney is working?  - How long does a transplanted kidney function?  - What side effects do immunosuppressants cause?  - Who will be on my transplant team? How can the members of my transplant team help me?  - With whom can I talk about finances, sex, or family concerns?  - How/where can I talk with other people who have faced this decision?

More information about Transplantation is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Transplantation. See also the Kidney Failure Treatment Comparison Chart, which compares peritoneal dialysis, hemodialysis, and transplantation.


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[User] What are the genetic changes related to multiple familial trichoepithelioma ?

[Assistant] Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating the action of nuclear factor-kappa-B, the CYLD protein allows cells to respond properly to signals to self-destruct when appropriate, such as when the cells become abnormal. By this mechanism, the CYLD protein acts as a tumor suppressor, which means that it helps prevent cells from growing and dividing too fast or in an uncontrolled way.  People with CYLD-related multiple familial trichoepithelioma are born with a mutation in one of the two copies of the CYLD gene in each cell. This mutation prevents the cell from making functional CYLD protein from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For tumors to develop, a second mutation or deletion of genetic material involving the other copy of the CYLD gene must occur in certain cells during a person's lifetime.  When both copies of the CYLD gene are mutated in a particular cell, that cell cannot produce any functional CYLD protein. The loss of this protein allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with multiple familial trichoepithelioma, a second CYLD mutation typically occurs in multiple cells over an affected person's lifetime. The loss of CYLD protein in these cells leads to the growth of skin appendage tumors.  Some researchers consider multiple familial trichoepithelioma and two related conditions called familial cylindromatosis and Brooke-Spiegler syndrome, which are also caused by CYLD gene mutations, to be different forms of the same disorder. It is unclear why mutations in the CYLD gene cause different patterns of skin appendage tumors in each of these conditions, or why the tumors are generally confined to the skin in these disorders.  Some people with multiple familial trichoepithelioma do not have mutations in the CYLD gene. Scientists are working to identify the genetic cause of the disorder in these individuals.


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[User] Is hereditary fructose intolerance 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 are the symptoms of Hydatidiform mole ?

[Assistant] What are the signs and symptoms of Hydatidiform mole? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydatidiform mole. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the menstrual cycle 90% Anemia 90% Nausea and vomiting 90% Spontaneous abortion 90% Toxemia of pregnancy 90% Hyperthyroidism 7.5% Abnormality of the genitourinary system - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is the outlook for Kearns-Sayre Syndrome ?

[Assistant] KSS is a slowly progressive disorder. The prognosis for individuals with KSS varies depending on the severity and the number of organs involved. Early diagnosis and periodic electrocardiogram (ECG) are important since heart block can cause death in 20 percent of patients. Early pacemaker implantation can be of great benefit and offer a longer life expectancy in many patients.


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[User] What are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ?

[Assistant] What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. 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) Cryptorchidism 90% Hepatic failure 90% Abnormality of the palate 50% Hypocalcemia 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Short neck 50% Thickened nuchal skin fold 50% Underdeveloped supraorbital ridges 50% Abnormality of the intestine 7.5% Adducted thumb 7.5% Anteverted nares 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Hypoplasia of penis 7.5% Kyphosis 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Ventriculomegaly 7.5% Abdominal distention - Alveolar ridge overgrowth - Ascites - Autosomal recessive inheritance - Cleft palate - Death in infancy - Flat midface - Flat occiput - Hepatomegaly - High palate - Hydronephrosis - Hypertelorism - Hypertrichosis - Hypoproteinemia - Inguinal hernia - Low-set ears - Lymphedema - Malar flattening - Micropenis - Muscular hypotonia - Narrow chest - Pancreatic lymphangiectasis - Postaxial hand polydactyly - Proptosis - Protein-losing enteropathy - Pulmonary lymphangiectasia - Redundant neck skin - Smooth philtrum - Splenomegaly - Thyroid lymphangiectasia - Ventricular septal defect - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the genetic changes related to catecholaminergic polymorphic ventricular tachycardia ?

[Assistant] CPVT can result from mutations in two genes, RYR2 and CASQ2. RYR2 gene mutations cause about half of all cases, while mutations in the CASQ2 gene account for 1 percent to 2 percent of cases. In people without an identified mutation in one of these genes, the genetic cause of the disorder is unknown.  The RYR2 and CASQ2 genes provide instructions for making proteins that help maintain a regular heartbeat. For the heart to beat normally, heart muscle cells called myocytes must tense (contract) and relax in a coordinated way. Both the RYR2 and CASQ2 proteins are involved in handling calcium within myocytes, which is critical for the regular contraction of these cells.  Mutations in either the RYR2 or CASQ2 gene disrupt the handling of calcium within myocytes. During exercise or emotional stress, impaired calcium regulation in the heart can lead to ventricular tachycardia in people with CPVT.