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

[User] What are the treatments for spondylocostal dysostosis ?

[Assistant] These resources address the diagnosis or management of spondylocostal dysostosis:  - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive  - Genetic Testing Registry: Jarcho-Levin syndrome  - Genetic Testing Registry: Spondylocostal dysostosis 1  - Genetic Testing Registry: Spondylocostal dysostosis 2  - Genetic Testing Registry: Spondylocostal dysostosis 3  - Genetic Testing Registry: Spondylocostal dysostosis 4, autosomal recessive  - KidsHealth: X-Ray Exam (Scoliosis)  - MedlinePlus Encyclopedia: Scoliosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] How to prevent Colorectal Cancer ?

[Assistant]
Key Points
                    - Avoiding risk factors and increasing protective factors may help prevent cancer.    - The following risk factors increase the risk of colorectal cancer:         - Age     - Family history of colorectal cancer     - Personal history     - Inherited risk     - Alcohol     - Cigarette smoking     - Obesity        - The following protective factors decrease the risk of colorectal cancer:         - Physical activity     - Aspirin     - Combination hormone replacement therapy      - Polyp removal        - It is not clear if the following affect the risk of colorectal cancer:         - Nonsteroidal anti-inflammatory drugs (NSAIDs) other than aspirin     - Calcium     - Diet        - The following factors do not affect the risk of colorectal cancer:         - Hormone replacement therapy with estrogen only     - Statins        - Cancer prevention clinical trials are used to study ways to prevent cancer.    - New ways to prevent colorectal cancer are being studied in clinical trials.

                    Avoiding risk factors and increasing protective factors may help prevent cancer.
                    Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer.

                    The following risk factors increase the risk of colorectal cancer:
                    Age    The risk of colorectal cancer increases after age 50. Most cases of colorectal cancer are diagnosed after age 50.       Family history of colorectal cancer    Having a parent, brother, sister, or child with colorectal cancer doubles a person's risk of colorectal cancer.       Personal history    Having a personal history of the following conditions increases the risk of colorectal cancer:             - Previous colorectal cancer.     - High-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope).     -  Ovarian cancer.     -  Inflammatory bowel disease (such as ulcerative colitis or Crohn disease).              Inherited risk    The risk of colorectal cancer is increased when certain gene changes linked to familial adenomatous polyposis (FAP) or hereditary nonpolyposis colon cancer (HNPCC or Lynch Syndrome) are inherited.       Alcohol    Drinking 3 or more alcoholic beverages per day increases the risk of colorectal cancer. Drinking alcohol is also linked to the risk of forming large colorectal adenomas (benign tumors).       Cigarette smoking    Cigarette smoking is linked to an increased risk of colorectal cancer and death from colorectal cancer.    Smoking cigarettes is also linked to an increased risk of forming colorectal adenomas. Cigarette smokers who have had surgery to remove colorectal adenomas are at an increased risk for the adenomas to recur (come back).       Obesity     Obesity is linked to an increased risk of colorectal cancer and death from colorectal cancer.

                    The following protective factors decrease the risk of colorectal cancer:
                    Physical activity    A lifestyle that includes regular physical activity is linked to a decreased risk of colorectal cancer.       Aspirin    Studies have shown that taking aspirin lowers the risk of colorectal cancer and the risk of death from colorectal cancer. The decrease in risk begins 10 to 20 years after patients start taking aspirin.    The possible harms of aspirin use (100 mg or less) daily or every other day include an increased risk of stroke and bleeding in the stomach and intestines. These risks may be greater among the elderly, men, and those with conditions linked to a higher than normal risk of bleeding.       Combination hormone replacement therapy      Studies have shown that combination hormone replacement therapy (HRT) that includes both estrogen and progestin lowers the risk of invasive colorectal cancer in postmenopausal women.     However, in women who take combination HRT and do develop colorectal cancer, the cancer is more likely to be advanced when it is diagnosed and the risk of dying from colorectal cancer is not decreased.    The possible harms of combination HRT include an increased risk of having:            -  Breast cancer.     - Heart disease.     -  Blood clots.              Polyp removal    Most colorectal polyps are adenomas, which may develop into cancer. Removing colorectal polyps that are larger than 1 centimeter (pea-sized) may lower the risk of colorectal cancer. It is not known if removing smaller polyps lowers the risk of colorectal cancer.     The possible harms of polyp removal during colonoscopy or sigmoidoscopy include a tear in the wall of the colon and bleeding.

                    It is not clear if the following affect the risk of colorectal cancer:
                    Nonsteroidal anti-inflammatory drugs (NSAIDs) other than aspirin    It is not known if the use of nonsteroidal anti-inflammatory drugs or NSAIDs (such as sulindac, celecoxib, naproxen, and ibuprofen) lowers the risk of colorectal cancer.     Studies have shown that taking the nonsteroidal anti-inflammatory drug celecoxib reduces the risk of colorectal adenomas (benign tumors) coming back after they have been removed. It is not clear if this results in a lower risk of colorectal cancer.     Taking sulindac or celecoxib has been shown to reduce the number and size of polyps that form in the colon and rectum of people with familial adenomatous polyposis (FAP). It is not clear if this results in a lower risk of colorectal cancer.    The possible harms of NSAIDs include:            -  Kidney problems.     - Bleeding in the stomach, intestines, or brain.     - Heart problems such as heart attack and congestive heart failure.              Calcium    It is not known if taking calcium supplements lowers the risk of colorectal cancer.        Diet    It is not known if a diet low in fat and meat and high in fiber, fruits, and vegetables lowers the risk of colorectal cancer.     Some studies have shown that a diet high in fat, proteins, calories, and meat increases the risk of colorectal cancer, but other studies have not.

                    The following factors do not affect the risk of colorectal cancer:
                    Hormone replacement therapy with estrogen only    Hormone replacement therapy with estrogen only does not lower the risk of having invasive colorectal cancer or the risk of dying from colorectal cancer.       Statins    Studies have shown that taking statins (drugs that lower cholesterol) does not increase or decrease the risk of colorectal cancer.

                    Cancer prevention clinical trials are used to study ways to prevent cancer.
                    Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer.     The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include exercising more or quitting smoking or taking certain medicines, vitamins, minerals, or food supplements.

                    New ways to prevent colorectal cancer are being studied in clinical trials.
                    Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for colon cancer prevention trials or rectal cancer prevention trials that are now accepting patients.


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[User] What is (are) Sickle Cell Disease ?

[Assistant]
Espaol

The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their red blood cells.

Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.

Inherited means that the disease is passed by genes from parents to their children. SCD is not contagious. A person cannot catch it, like a cold or infection, from someone else.

People who have SCD inherit two abnormal hemoglobin genes, one from each parent. In all forms of SCD, at least one of the two abnormal genes causes a persons body to make hemoglobin S. When a person has two hemoglobin S genes, Hemoglobin SS, the disease is called sickle cell anemia. This is the most common and often most severe kind of SCD.

Hemoglobin SC disease and hemoglobin S thalassemia (thal-uh-SEE-me-uh) are two other common forms of SCD.

Some Forms of Sickle Cell Disease

Hemoglobin SS

Hemoglobin SC

Hemoglobin S0 thalassemia

Hemoglobin S+ thalassemia

Hemoglobin SD

Hemoglobin SE

Overview

Cells in tissues need a steady supply of oxygen to work well. Normally, hemoglobin in red blood cells takes up oxygen in the lungs and carries it to all the tissues of the body.

Red blood cells that contain normal hemoglobin are disc shaped (like a doughnut without a hole). This shape allows the cells to be flexible so that they can move through large and small blood vessels to deliver oxygen.

Sickle hemoglobin is not like normal hemoglobin. It can form stiff rods within the red cell, changing it into a crescent, or sickle shape.

Sickle-shaped cells are not flexible and can stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen cant reach nearby tissues.

Normal Red Cells and Sickle Red Cells

The lack of tissue oxygen can cause attacks of sudden, severe pain, called pain crises. These pain attacks can occur without warning, and a person often needs to go to the hospital for effective treatment.

Most children with SCD are pain free between painful crises, but adolescents and adults may also suffer with chronic ongoing pain.

The red cell sickling and poor oxygen delivery can also cause organ damage. Over a lifetime, SCD can harm a persons spleen, brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones, or skin.

Sickle cells cant change shape easily, so they tend to burst apart or hemolyze. Normal red blood cells live about 90 to 120 days, but sickle cells last only 10 to 20 days.

The body is always making new red blood cells to replace the old cells; however, in SCD the body may have trouble keeping up with how fast the cells are being destroyed. Because of this, the number of red blood cells is usually lower than normal. This condition, called anemia, can make a person have less energy.

Outlook

Sickle cell disease is a life-long illness. The severity of the disease varies widely from person to person.

In high-income countries like the United States, the life expectancy of a person with SCD is now about 4060 years. In 1973, the average lifespan of a person with SCD in the United States was only 14 years. Advances in the diagnosis and care of SCD have made this improvement possible.

At the present time, hematopoietic stem cell transplantation (HSCT) is the only cure for SCD. Unfortunately, most people with SCD are either too old for a transplant or dont have a relative who is a good enough genetic match for them to act as a donor. A well-matched donor is needed to have the best chance for a successful transplant.

There are effective treatments that can reduce symptoms and prolong life. Early diagnosis and regular medical care to prevent complications also contribute to improved well-being.


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[User] What is (are) primary hyperoxaluria ?

[Assistant] Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.  Primary hyperoxaluria results from the overproduction of a substance called oxalate. Oxalate is filtered through the kidneys and excreted as a waste product in urine, leading to abnormally high levels of this substance in urine (hyperoxaluria). During its excretion, oxalate can combine with calcium to form calcium oxalate, a hard compound that is the main component of kidney and bladder stones. Deposits of calcium oxalate can damage the kidneys and other organs and lead to blood in the urine (hematuria), urinary tract infections, kidney damage, ESRD, and injury to other organs. Over time, kidney function decreases such that the kidneys can no longer excrete as much oxalate as they receive. As a result oxalate levels in the blood rise, and the substance gets deposited in tissues throughout the body (systemic oxalosis), particularly in bones and the walls of blood vessels. Oxalosis in bones can cause fractures.  There are three types of primary hyperoxaluria that differ in their severity and genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.


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[User] What to do for Acromegaly ?

[Assistant] - Acromegaly is a hormonal disorder that results from too much growth hormone (GH) in the body.  - In most people with acromegaly, a benign tumor of the pituitary gland produces excess GH.  - Common features of acromegaly include abnormal growth of the hands and feet; bone growth in the face that leads to a protruding lower jaw and brow and an enlarged nasal bone; joint aches; thick, coarse, oily skin; and enlarged lips, nose, and tongue.  - Acromegaly can cause sleep apnea, fatigue and weakness, headaches, impaired vision, menstrual abnormalities in women, and erectile dysfunction in men.  - Acromegaly is diagnosed through a blood test. Magnetic resonance imaging (MRI) of the pituitary is then used to locate and detect the size of the tumor causing GH overproduction.  - The first line of treatment is usually surgical removal of the tumor. Medication or radiation may be used instead of or in addition to surgery.


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[User] How to diagnose Frontal fibrosing alopecia ?

[Assistant] How is frontal fibrosing alopecia diagnosed? Frontal fibrosing alopecia is often suspected based on the presence of characteristic signs and symptoms. The diagnosis can be confirmed by examining a small sample of skin (skin biopsy) from the affected area. In some cases, laboratory studies may be ordered to rule out other conditions that cause similar features.


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[User] What are the treatments for juvenile Batten disease ?

[Assistant] These resources address the diagnosis or management of juvenile Batten disease:  - Batten Disease Diagnostic and Clinical Research Center at the University of Rochester Medical Center  - Batten Disease Support and Research Association: Centers of Excellence  - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses  - Genetic Testing Registry: Juvenile neuronal ceroid lipofuscinosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] How to prevent Sexual and Urologic Problems of Diabetes ?

[Assistant]
People with diabetes can lower their risk of sexual and urologic problems by keeping their blood glucose, blood pressure, and cholesterol levels close to the target numbers their health care provider recommends. Being physically active and maintaining a healthy weight can also help prevent the long-term complications of diabetes. For those who smoke, quitting will lower the risk of developing sexual and urologic problems due to nerve damage and also lower the risk for other health problems related to diabetes, including heart attack, stroke, and kidney disease.

More information about preventing diabetes complications is provided in the NIDDK health topic, Prevent diabetes problems: Keep your diabetes under control, available from the National Diabetes Information Clearinghouse at 1-800-860-8747.


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[User] How many people are affected by Schwartz-Jampel syndrome ?

[Assistant] Schwartz-Jampel syndrome appears to be a rare condition. About 150 cases have been reported in the medical literature.


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[User] What are the symptoms of Split hand split foot nystagmus ?

[Assistant] What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fusion of remaining digits. People with this syndrome also have rapid involuntary movements of the eyes, called nystagmus. Abnormalities of the teeth can occur rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand split foot nystagmus. 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) Nystagmus 90% Split foot 90% Split hand 90% Abnormality of the metacarpal bones 50% Strabismus 50% Visual impairment 50% Abnormality of retinal pigmentation 7.5% Cataract 7.5% Autosomal dominant inheritance - Congenital nystagmus - Monodactyly (hands) - Retinopathy - 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) gnathodiaphyseal dysplasia ?

[Assistant] Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause.  While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, the outer layer (cortex) of the shafts of the long bones in the arms and legs is abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also occurs in this disorder.  Jaw problems are common in gnathodiaphyseal dysplasia; the prefix "gnatho-" in the condition name refers to the jaw. Affected individuals may develop bone infections (osteomyelitis) in the jaw, which can lead to pain, swelling, discharge of pus from the gums, loose teeth, and slow healing after teeth are lost or extracted. Areas of the jawbone may lose the protective coverage of the gums, which can result in deterioration of the exposed bone (osteonecrosis of the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous tissue and a hard material called cementum, which normally surrounds the roots of teeth and anchors them in the jaw. These areas of abnormal bone, called cementoosseous lesions, may be present at birth or develop later in life.  When gnathodiaphyseal dysplasia was first described, it was thought to be a variation of another bone disorder called osteogenesis imperfecta, which is also characterized by frequent bone fractures. However, gnathodiaphyseal dysplasia is now generally considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without causing deformity or loss of height.


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[User] Do you have information about Blood Thinners

[Assistant] Summary : If you have some kinds of heart or blood vessel disease, or if you have poor blood flow to your brain, your doctor may recommend that you take a blood thinner. Blood thinners reduce the risk of heart attack and stroke by reducing the formation of blood clots in your arteries and veins. You may also take a blood thinner if you have       - An abnormal heart rhythm called atrial fibrillation    - Heart valve surgery    - Congenital heart defects       There are two main types of blood thinners. Anticoagulants, such as heparin or warfarin (also called Coumadin), work on chemical reactions in your body to lengthen the time it takes to form a blood clot. Antiplatelet drugs, such as aspirin, prevent blood cells called platelets from clumping together to form a clot.    When you take a blood thinner, follow directions carefully. Make sure that your healthcare provider knows all of the medicines and supplements you are using.


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[User] What causes Vasculitis ?

[Assistant]
Vasculitis occurs if your immune system attacks your blood vessels by mistake. What causes this to happen isn't fully known.

A recent or chronic (ongoing) infection may prompt the attack. Your body also may attack its own blood vessels in reaction to a medicine.

Sometimes an autoimmune disorder triggers vasculitis. Autoimmune disorders occur if the immune system makes antibodies (proteins) that attack and damage the body's own tissues or cells. Examples of these disorders include lupus, rheumatoid arthritis, and scleroderma. You can have these disorders for years before developing vasculitis.

Vasculitis also may be linked to certain blood cancers, such as leukemia and lymphoma.


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[User] What are the stages of Childhood Ependymoma ?

[Assistant]
Key Points
                    - The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment.    - The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment.

                    The area where the tumor is found and the childs age are used in place of a staging system to plan cancer treatment.
                    Staging is the process used to find out how much cancer there is and if cancer has spread. There is no standard staging system for childhood ependymoma. Treatment is based on where the cancer is in the body and the age of the child.

                    The information from tests and procedures done to detect (find) childhood ependymoma is used to plan cancer treatment.
                    Some of the tests used to detect childhood ependymoma are repeated after the tumor is removed by surgery. (See the General Information section.) This is to find out how much tumor remains after surgery.


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[User] What is (are) High Blood Pressure ?

[Assistant]
Espaol

High blood pressure is a common disease in which blood flows through blood vessels (arteries) at higher than normal pressures.

Measuring Blood Pressure

Blood pressure is the force of blood pushing against the walls of the arteries as the heart pumps blood. High blood pressure, sometimes called hypertension, happens when this force is too high. Health care workers check blood pressure readings the same way for children, teens, and adults. They use a gauge, stethoscope or electronic sensor, and a blood pressure cuff. With this equipment, they measure:

Systolic Pressure: blood pressure when the heart beats while pumping blood

Diastolic Pressure: blood pressure when the heart is at rest between beats

Health care workers write blood pressure numbers with the systolic number above the diastolic number. For example:

118/76 mmHg People read "118 over 76" millimeters of mercury.

Normal Blood Pressure

Normal blood pressure for adults is defined as a systolic pressure below 120 mmHg and a diastolic pressure below 80 mmHg. It is normal for blood pressures to change when you sleep, wake up, or are excited or nervous. When you are active, it is normal for your blood pressure to increase. However, once the activity stops, your blood pressure returns to your normal baseline range.

Blood pressure normally rises with age and body size. Newborn babies often have very low blood pressure numbers that are considered normal for babies, while older teens have numbers similar to adults.

Abnormal Blood Pressure

Abnormal increases in blood pressure are defined as having blood pressures higher than 120/80 mmHg. The following table outlines and defines high blood pressure severity levels.

Stages of High Blood Pressure in Adults

The ranges in the table are blood pressure guides for adults who do not have any short-term serious illnesses. People with diabetes or chronic kidney disease should keep their blood pressure below 130/80 mmHg.

Although blood pressure increases seen in prehypertension are less than those used to diagnose high blood pressure, prehypertension can progress to high blood pressure and should be taken seriously. Over time, consistently high blood pressure weakens and damages your blood vessels, which can lead to complications.

Types of High Blood Pressure

There are two main types of high blood pressure: primary and secondary high blood pressure.

Primary High Blood Pressure

Primary, or essential, high blood pressure is the most common type of high blood pressure. This type of high blood pressure tends to develop over years as a person ages.

Secondary High Blood Pressure

Secondary high blood pressure is caused by another medical condition or use of certain medicines. This type usually resolves after the cause is treated or removed.


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[User] What are the treatments for Dentatorubral-pallidoluysian atrophy ?

[Assistant] How might dentatorubral-pallidoluysian atrophy (DRPLA) be treated? There is no cure for DRPLA; treatment is generally symptomatic and supportive. Management of signs and symptoms may include:  Treatment of seizures with anti-epileptic drugs Treatment of psychiatric problems with appropriate psychotropic medications Adaptation of environment and care to the level of dementia Adaptation of educational programs for affected children.


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[User] What are the symptoms of Hepatitis B: What Asian and Pacific Islander Americans Need to Know ?

[Assistant]
Hepatitis B is called a silent killer because many people have no symptoms, so the disease often progresses unnoticed for years. Unfortunately, many people first learn they have chronic hepatitis B when they develop symptoms of severe liver damage, which include

- yellowish eyes and skin, called jaundice  - a swollen stomach or ankles  - tiredness  - nausea  - weakness  - loss of appetite  - weight loss  - spiderlike blood vessels, called spider angiomas, that develop on the skin


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[User] What is (are) juvenile Batten disease ?

[Assistant] Juvenile Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop progressive vision loss, intellectual and motor disability, speech difficulties, and seizures.  Vision impairment is often the first noticeable sign of juvenile Batten disease, beginning between the ages of 4 and 8 years. Vision loss tends to progress rapidly, eventually resulting in blindness.  After vision impairment has begun, children with juvenile Batten disease experience the loss of previously acquired skills (developmental regression), usually beginning with the ability to speak in complete sentences. Affected children also have difficulty learning new information. In addition to the intellectual decline, affected children lose motor skills such as the ability to walk or sit. They also develop movement abnormalities that include rigidity or stiffness, slow or diminished movements (hypokinesia), and stooped posture. Affected children may have recurrent seizures (epilepsy), heart problems, behavioral problems, difficulty sleeping, and problems with attention that begin in mid- to late childhood. Most people with juvenile Batten disease live into their twenties or thirties.  Juvenile Batten disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). These disorders all affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear. Some people refer to the entire group of NCLs as Batten disease, while others limit that designation to the juvenile form of the disorder.


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[User] What is the outlook for Tarlov Cysts ?

[Assistant] In some instances Tarlov cysts can cause nerve pain and other pain, weakness, or nerve root compression. Acute and chronic pain may require changes in lifestyle. If left untreated, nerve root compression can cause permanent neurological damage.


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[User] How many people are affected by prekallikrein deficiency ?

[Assistant] The prevalence of prekallikrein deficiency is unknown. Approximately 80 affected individuals in about 30 families have been described in the medical literature. Because prekallikrein deficiency usually does not cause any symptoms, researchers suspect that most people with the condition are never diagnosed.


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[User] What are the symptoms of Progeria ?

[Assistant] What are the signs and symptoms of Progeria? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeria. 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 adipose tissue 90% Abnormality of the fingernails 90% Abnormality of the genital system 90% Alopecia 90% Delayed eruption of teeth 90% Hypoplastic toenails 90% Narrow face 90% Prematurely aged appearance 90% Proptosis 90% Reduced number of teeth 90% Short distal phalanx of finger 90% Short stature 90% Thin skin 90% Weight loss 90% Abnormality of skin pigmentation 50% Abnormality of the clavicle 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the hip bone 50% Abnormality of the voice 50% Acrocyanosis 50% Convex nasal ridge 50% Coronary artery disease 50% External ear malformation 50% Gait disturbance 50% Lack of skin elasticity 50% Osteolysis 50% Reduced bone mineral density 50% Thin vermilion border 50% Arthralgia 7.5% Nephrosclerosis 7.5% Skeletal dysplasia 7.5% Absence of subcutaneous fat - Angina pectoris - Autosomal dominant inheritance - Congestive heart failure - Generalized osteoporosis with pathologic fractures - Growth delay - Hypoplasia of midface - Malar flattening - Myocardial infarction - Precocious atherosclerosis - Premature coronary artery disease - 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] How many people are affected by limb-girdle muscular dystrophy ?

[Assistant] It is difficult to determine the prevalence of limb-girdle muscular dystrophy because its features vary and overlap with those of other muscle disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 individuals.


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[User] What causes Cowden syndrome ?

[Assistant] What causes Cowden syndrome? Most cases of Cowden syndrome are caused by changes (mutations) in the PTEN gene. PTEN is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in PTEN result in a defective protein that is unable to carry out its normal role. This leads to the development of the various tumors and cancers associated with Cowden syndrome. Rarely, Cowden syndrome is caused by mutations in KLLN, SDHB, SDHC, SDHD, PIK3CA or AKT1. Some affected families have no identifiable mutation in any of the genes associated with Cowden syndrome; in these families, the exact underlying cause is unknown.


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[User] What is (are) Trigeminal Neuralgia ?

[Assistant]
Trigeminal neuralgia (TN), also called tic douloureux, is a chronic pain condition that causes extreme, sporadic, sudden burning or shock-like face pain. The painseldomlasts more than a few seconds or a minute or twoper episode. The intensity of pain can be physically and mentally incapacitating. TN pain is typically felt on one side of the jaw or cheek. Episodes can last for days, weeks, or months at a time and then disappear for months or years. In the days before an episode begins, some patients may experience a tingling or numbing sensation or a somewhat constant and aching pain. The attacks often worsen over time, with fewer and shorter pain-free periods before they recur. The intense flashes of pain can be triggered by vibration or contact with the cheek (such as when shaving, washing the face, or applying makeup), brushing teeth, eating, drinking, talking, or being exposed to the wind. TN occurs most often in people over age 50, but it can occur at any age, and is more common in women than in men. There is some evidence that the disorder runs in families, perhaps because of an inherited pattern of blood vessel formation. Although sometimes debilitating, the disorder is not life-threatening.

The presumed cause of TN is a blood vessel pressing on the trigeminal nerve in the head as it exits the brainstem. TN may be part of the normal aging process but in some cases it is the associated with another disorder, such as multiple sclerosis or other disorders characterized by damage to the myelin sheath that covers certain nerves.


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[User] Is hepatic lipase deficiency 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.


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

[User] What is (are) Junctional epidermolysis bullosa ?

[Assistant] Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.  JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condition often do not survive infancy. The Non-Herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter.   JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3, COL17A1, or LAMC2, and LAMA3 genes.There is no cure for JEB. Treatment is focused on management of blistering and prevention of secondary infections.


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[User] What are the symptoms of Coloboma, cleft lip/palate and mental retardation syndrome ?

[Assistant] What are the signs and symptoms of Coloboma, cleft lip/palate and mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Coloboma, cleft lip/palate and mental retardation 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) Chorioretinal coloboma 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia affecting the eye 50% Cognitive impairment 50% Hematuria 50% Iris coloboma 50% Oral cleft 50% Cataract 7.5% Glaucoma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 7.5% Optic atrophy 7.5% Posterior embryotoxon 7.5% Ptosis 7.5% Retinal detachment 7.5% Strabismus 7.5% Visual impairment 7.5% Cleft palate 5% Cleft upper lip 5% Intellectual disability 5% Microphthalmia 5% Autosomal dominant 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 (are) dilated cardiomyopathy with ataxia syndrome ?

[Assistant] Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by heart problems, movement difficulties, and other features affecting multiple body systems.  Beginning in infancy to early childhood, most people with DCMA syndrome develop dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. Some affected individuals also have long QT syndrome, which is a heart condition that causes the cardiac muscle to take longer than usual to recharge between beats. The irregular heartbeats (arrhythmia) can lead to fainting (syncope) or cardiac arrest and sudden death. Rarely, heart problems improve over time; however, in most cases of DCMA syndrome, affected individuals do not survive past childhood due to heart failure. A small percentage of people with DCMA syndrome have no heart problems at all.  By age 2, children with DCMA syndrome have problems with coordination and balance (ataxia). These movement problems can result in delay of motor skills such as standing and walking, but most older children with DCMA syndrome can walk without support.  In addition to heart problems and movement difficulties, most individuals with DCMA syndrome grow slowly before and after birth, which leads to short stature. Additionally, many affected individuals have mild intellectual disability. Many males with DCMA syndrome have genital abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). Other common features of DCMA syndrome include unusually small red blood cells (microcytic anemia), which can cause pale skin; an abnormal buildup of fats in the liver (hepatic steatosis), which can damage the liver; and the degeneration of nerve cells that carry visual information from the eyes to the brain (optic nerve atrophy), which can lead to vision loss.  DCMA syndrome is associated with increased levels of a substance called 3-methylglutaconic acid in the urine. The amount of acid does not appear to influence the signs and symptoms of the condition. DCMA syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with DCMA syndrome also have high urine levels of another acid called 3-methylglutaric acid.


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[User] Who is at risk for Breast Cancer? ?

[Assistant]
A family history of breast cancer and other factors increase the risk of breast cancer.
                    Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk for breast cancer.    Risk factors for breast cancer include the following:            - A personal history of invasive breast cancer, ductal carcinoma in situ (DCIS), or lobular carcinoma in situ (LCIS).     - A personal history of benign (noncancer) breast disease.     - A family history of breast cancer in a first-degree relative (mother, daughter, or sister).     - Inherited changes in the  BRCA1  or  BRCA2  genes or in other genes that increase the risk of breast cancer.     - Breast tissue that is dense on a mammogram.     -  Exposure of breast tissue to estrogen made by the body. This may be caused by:                  -  Menstruating at an early age.       -  Older age at first birth or never having given birth.       - Starting menopause at a later age.                - Taking hormones such as estrogen combined with progestin for symptoms of menopause.     - Treatment with radiation therapy to the breast/chest.     - Drinking alcohol.     -  Obesity.           Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older.      NCI's Breast Cancer Risk Assessment Tool uses a woman's risk factors to estimate her risk for breast cancer during the next five years and up to age 90. This online tool is meant to be used by a health care provider. For more information on breast cancer risk, call 1-800-4-CANCER.


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[User] What causes Indigestion ?

[Assistant]
Indigestion can be caused by a condition in the digestive tract such as gastroesophageal reflux disease (GERD), peptic ulcer disease, cancer, or abnormality of the pancreas or bile ducts. If the condition improves or resolves, the symptoms of indigestion usually improve.

Sometimes a person has indigestion for which a cause cannot be found. This type of indigestion, called functional dyspepsia, is thought to occur in the area where the stomach meets the small intestine. The indigestion may be related to abnormal motilitythe squeezing or relaxing actionof the stomach muscle as it receives, digests, and moves food into the small intestine.


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[User] What are the treatments for Alcohol Use and Older Adults ?

[Assistant] Talking about alcohol use with a professional is beneficial to many people. Counseling  either one-on-one or in groups  can help develop skills to stop or reduce drinking, develop reachable goals, manage the triggers that lead to alcohol misuse and build a strong social support system that supports healthy habits. There are many kinds of counseling approaches. - cognitive behavior therapy   - motivational enhancement therapy  - marital and family counseling  - brief interventions cognitive behavior therapy motivational enhancement therapy marital and family counseling brief interventions Learn more about each type of behavioral therapy.  Counseling can be provided by - primary care doctors   - psychiatrists  -  psychologists  -  social workers  - certified alcohol counselors.  primary care doctors psychiatrists psychologists social workers certified alcohol counselors.


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[User] What is (are) Elbow Injuries and Disorders ?

[Assistant] Your elbow joint is made up of bone, cartilage, ligaments and fluid. Muscles and tendons help the elbow joint move. When any of these structures is hurt or diseased, you have elbow problems.     Many things can make your elbow hurt. A common cause is tendinitis, an inflammation or injury to the tendons that attach muscle to bone. Tendinitis of the elbow is a sports injury, often from playing tennis or golf. You may also get tendinitis from overuse of the elbow.     Other causes of elbow pain include sprains, strains, fractures, dislocations, bursitis and arthritis. Treatment depends on the cause.


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[User] What is (are) TARP syndrome ?

[Assistant] TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close (atrial septal defect). The Robin sequence (also known as Pierre Robins sequence) is characterized by a small lower jaw at birth that prevents proper feeding of the infant, followed by a retracted or displaced tongue. A high-arched, cleft soft palate is also commonly seen. Affected individuals also have persistent left superior vena cava. TARP syndrome has been reported to cause death before birth or soon after birth. This condition is caused by mutations in the RBM10 gene and is inherited in an X-linked recessive fashion.


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[User] What are the genetic changes related to Amish lethal microcephaly ?

[Assistant] Mutations in the SLC25A19 gene cause Amish lethal microcephaly.  The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports a molecule called thiamine pyrophosphate into the mitochondria, the energy-producing centers of cells. This compound is involved in the activity of a group of mitochondrial enzymes called the dehydrogenase complexes, one of which is the alpha-ketoglutarate dehydrogenase complex. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development.  All known individuals with Amish lethal microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written as Gly177Ala or G177A. Researchers believe that this mutation interferes with the transport of thiamine pyrophosphate into the mitochondria and the activity of the alpha-ketoglutarate dehydrogenase complex, resulting in the abnormal brain development and alpha-ketoglutaric aciduria seen in Amish lethal microcephaly.


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[User] What are the symptoms of Familial osteochondritis dissecans ?

[Assistant] What are the signs and symptoms of Familial osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage and bone travel into the joint space: Pain, swelling and/or tenderness Joint popping Joint weakness Decreased range of motion Although osteochondritis dissecans can develop in any joint of the body, the knee, ankle and elbow are most commonly affected. Most people only develop the condition in a single joint. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial osteochondritis dissecans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Exostoses - Growth abnormality - Osteoarthritis - Osteochondrosis dissecans - Short stature - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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

[User] What is (are) Facial Injuries and Disorders ?

[Assistant] Face injuries and disorders can cause pain and affect how you look. In severe cases, they can affect sight, speech, breathing and your ability to swallow. Broken bones, especially the bones of your nose, cheekbone and jaw, are common facial injuries.    Certain diseases also lead to facial disorders. For example, nerve diseases like trigeminal neuralgia or Bell's palsy sometimes cause facial pain, spasms and trouble with eye or facial movement. Birth defects can also affect the face. They can cause underdeveloped or unusually prominent facial features or a lack of facial expression. Cleft lip and palate are a common facial birth defect.


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

[User] What are the symptoms of Ichthyosis and male hypogonadism ?

[Assistant] What are the signs and symptoms of Ichthyosis and male hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis and male hypogonadism. 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 metabolism/homeostasis - Anosmia - Congenital ichthyosiform erythroderma - Gonadotropin deficiency - Hyperchromic macrocytic anemia - Hypogonadotrophic hypogonadism - Intellectual disability - Male hypogonadism - Rod-cone dystrophy - Seizures - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Is coloboma inherited ?

[Assistant] Most often, isolated coloboma is not inherited, and there is only one affected individual in a family. However, the affected individual is still at risk of passing the coloboma on to his or her own children.  In cases when it is passed down in families, coloboma can have different inheritance patterns. Isolated coloboma is sometimes inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Isolated coloboma can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the condition.  Less commonly, isolated coloboma may have X-linked dominant or X-linked recessive patterns of inheritance. X-linked means that a gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females.  X-linked recessive means that in females, a mutation would have to occur in both copies of a gene to cause the disorder. In males, one altered copy of a gene in each cell is sufficient to cause the condition. Because it is unlikely that females will have two altered copies of a particular gene, males are affected by X-linked recessive disorders much more frequently than females.  When coloboma occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal dominant, autosomal recessive, or X-linked.


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

[User] What is (are) Pregnancy and Thyroid Disease ?

[Assistant]
Thyroid disease is a disorder that affects the thyroid gland. Sometimes the body produces too much or too little thyroid hormone. Thyroid hormones regulate metabolismthe way the body uses energyand affect nearly every organ in the body. Too much thyroid hormone is called hyperthyroidism and can cause many of the bodys functions to speed up. Too little thyroid hormone is called hypothyroidism and can cause many of the bodys functions to slow down.

Thyroid hormone plays a critical role during pregnancy both in the development of a healthy baby and in maintaining the health of the mother.

Women with thyroid problems can have a healthy pregnancy and protect their fetuses health by learning about pregnancys effect on the thyroid, keeping current on their thyroid function testing, and taking the required medications.


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[User] What is (are) Severe intellectual disability-progressive spastic diplegia syndrome ?

[Assistant] Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.


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[User] what research (or clinical trials) is being done for Childhood Vascular Tumors ?

[Assistant]
New types of treatment are being tested in clinical trials.
                    Information about clinical trials is available from the NCI website.

                    Patients may want to think about taking part in a clinical trial.
                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way disease will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.

                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose tumors have not gotten better. There are also clinical trials that test new ways to stop tumors from recurring (coming back) or reduce the side effects of treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.


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[User] What are the treatments for Kimura disease ?

[Assistant] How might Kimura disease be treated? For individuals with symptoms caused by Kimura disease, surgery to remove the nodules is the treatment of choice; however, the nodules often reappear after surgery. Steroids (such as prednisone), taken by mouth or via an injection in the skin, can shrink the nodules but rarely result in a cure. Other, less common, treatments include oral pentoxifylline, medication that supresses the immune system (such as cyclosporine), radiotherapy, and a combination of all trans-retinoic acid and prednisone. It is important to consult with your healthcare provider before taking any medication.


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[User] What are the treatments for keratoderma with woolly hair ?

[Assistant] These resources address the diagnosis or management of keratoderma with woolly hair:  - Gene Review: Gene Review: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy  - Gene Review: Gene Review: Dilated Cardiomyopathy Overview  - Genetic Testing Registry: Arrhythmogenic right ventricular cardiomyopathy, type 11  - Genetic Testing Registry: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis  - Genetic Testing Registry: Naxos disease  - Genetic Testing Registry: Palmoplantar keratoderma and woolly hair  - National Heart, Lung, and Blood Institute: How is Cardiomyopathy Diagnosed?  - National Heart, Lung, and Blood Institute: How is Cardiomyopathy Treated?   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] Is X-linked intellectual disability, Siderius type inherited ?

[Assistant] This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.


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[User] How to prevent Carotid Artery Disease ?

[Assistant]
Taking action to control your risk factors can help prevent or delay carotid artery disease and stroke. Your risk for carotid artery disease increases with the number of risk factors you have.

One step you can take is to adopt a heart-healthy lifestyle, which can include:

Heart-Healthy Eating. Following heart-healthy eating is an important part of a healthy lifestyle. Dietary Approaches to Stop Hypertension (DASH)is a program that promotes heart-healthy eating.

Maintaining a Healthy Weight. If youre overweight or obese, work with your doctor to create a reasonable plan for weight loss. Controlling your weight helps you control risk factors for carotid arterydisease.

Physical Activity. Be as physically active as you can. Physical activity can improve your fitness level and your health. Ask your doctor what types and amounts of activity are safe for you. Read more about Physical Activity and Your Heart.

Quit Smoking. If you smoke, quit. Talk with your doctor about programs and products that can help you quit.

Other steps that can prevent or delay carotid artery disease include knowing your family history of carotid artery disease. If you or someone in your family has carotid artery disease, be sure to tell your doctor.

If lifestyle changes arent enough, your doctor may prescribe medicines to control your carotid artery disease risk factors. Take all of your medicines as your doctor advises.


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[User] What is (are) Unna-Thost palmoplantar keratoderma ?

[Assistant] Unna-Thost palmoplantar keratoderma is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased sweating (hyperhidrosis) is quite common and there is a tendency to fungal and bacterial infections of the feet. This condition usually does not extend beyond the hands and feet. It may affect the knuckle pads and nails, but usually does not involve the thin skin on the top of the feet or hands. Unna-Thost palmoplantar keratoderma is inherited in an autosomal dominant fashion and caused by mutations in the KRT1 gene.


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[User] What are the genetic changes related to X-linked hyper IgM syndrome ?

[Assistant] Mutations in the CD40LG gene cause X-linked hyper IgM syndrome. This gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, which is located on the surface of immune system cells called B cells. B cells are involved in the production of antibodies, and initially they are able to make only IgM antibodies. When CD40 ligand and its receptor protein are connected, they trigger a series of chemical signals that instruct the B cell to start making IgG, IgA, or IgE antibodies.  CD40 ligand is also necessary for T cells to interact with other cells of the immune system, and it plays a key role in T cell differentiation (the process by which cells mature to carry out specific functions).  Mutations in the CD40LG gene lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. Mutations in the CD40LG gene also impair the T cell's ability to differentiate and interact with other immune system cells. People with X-linked hyper IgM syndrome are more susceptible to infections because they do not have a properly functioning immune system.


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

[User] What are the symptoms of Epilepsy occipital calcifications ?

[Assistant] What are the signs and symptoms of Epilepsy occipital calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy occipital calcifications. 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 metabolism/homeostasis 90% Abnormality of the cerebral vasculature 90% Anemia 90% Cerebral calcification 90% Malabsorption 90% Seizures 90% Visual impairment 90% Cognitive impairment 7.5% Celiac disease - 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 Brittle diabetes ?

[Assistant] What causes brittle diabetes? There are multiple causes of brittle diabetes. Emotional stress seems to play an important role, in some cases leading to hormonal inbalances which can lead to brittle diabetes. Emotional stress can also lead to a shift in the behavior of an individual, leading them to neglect their self-care. Other cases can be traced to physiological causes, including malabsorption, delayed gastric emptying due to autonomic neuropathy (gastroparesis), celiac disease, impaired glucose counterregulation (which doesn't allow the patient's body to react as it should when blood glucose levels drop), hypothyroidism and adrenal insufficiency, drug or alcohol use, systemic insulin resistance, and abnormal insulin absorption or degradation.


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[User] What are the genetic changes related to Miller-Dieker syndrome ?

[Assistant] Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. The signs and symptoms of Miller-Dieker syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.  Researchers are working to identify all of the genes that contribute to the features of Miller-Dieker syndrome. They have determined that the loss of a particular gene on chromosome 17, PAFAH1B1, is responsible for the syndrome's characteristic sign of lissencephaly. The loss of another gene, YWHAE, in the same region of chromosome 17 increases the severity of the lissencephaly in people with Miller-Dieker syndrome. Additional genes in the deleted region probably contribute to the varied features of Miller-Dieker syndrome.


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[User] How to diagnose Goodpasture Syndrome ?

[Assistant]
A health care provider may order the following tests to diagnose Goodpasture syndrome:

- Urinalysis. Urinalysis is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when protein or blood are present in urine. A high number of red blood cells and high levels of protein in the urine indicate kidney damage.  - Blood test. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. The blood test can show the presence of anti-GBM antibodies.  - Chest x ray. An x ray of the chest is performed in a health care providers office, outpatient center, or hospital by an x-ray technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Abnormalities in the lungs, if present, can be seen on the x ray.  - Biopsy. A biopsy is a procedure that involves taking a piece of kidney tissue for examination with a microscope. The biopsy is performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the kidney. The tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. The test can show crescent-shaped changes in the glomeruli and lines of antibodies attached to the GBM.


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

[Assistant]
Once the infection has cleared, more tests may be recommended to check for abnormalities in the urinary tract. Repeated infections in an abnormal urinary tract may cause kidney damage. The kinds of tests ordered will depend on the child and the type of urinary infection. Because no single test can tell everything about the urinary tract that might be important, more than one of the tests listed below may be needed.

- Kidney and bladder ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging; anesthesia is not needed. The images can show certain abnormalities in the kidneys and bladder. However, this test cannot reveal all important urinary abnormalities or measure how well the kidneys work.  - Voiding cystourethrogram. This test is an x-ray image of the bladder and urethra taken while the bladder is full and during urination, also called voiding. The childs bladder and urethra are filled with a special dye, called contrast medium, to make the structures clearly visible on the x-ray images. The x-ray machine captures images of the contrast medium while the bladder is full and when the child urinates. The procedure is performed in a health care providers office, outpatient center, or hospital by an x-ray technician supervised by a radiologist, who then interprets the images. Anesthesia is not needed, but sedation may be used for some children. This test can show abnormalities of the inside of the urethra and bladder. The test can also determine whether the flow of urine is normal when the bladder empties.  - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of contrast medium. CT scans require the child to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. CT scans can provide clearer, more detailed images to help the health care provider understand the problem.  - Magnetic resonance imaging (MRI). MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. An MRI may include the injection of contrast medium. With most MRI machines, the child lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the child to lie in a more open space. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed, though light sedation may be used for children with a fear of confined spaces. Like CT scans, MRIs can provide clearer, more detailed images.  - Radionuclide scan. A radionuclide scan is an imaging technique that relies on the detection of small amounts of radiation after injection of radioactive chemicals. Because the dose of the radioactive chemicals is small, the risk of causing damage to cells is low. Special cameras and computers are used to create images of the radioactive chemicals as they pass through the kidneys. Radionuclide scans are performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. Radioactive chemicals injected into the blood can provide information about kidney function. Radioactive chemicals can also be put into the fluids used to fill the bladder and urethra for x ray, MRI, and CT imaging. Radionuclide scans expose a child to about the same amount or less of radiation as a conventional x ray.  - Urodynamics. Urodynamic testing is any procedure that looks at how well the bladder, sphincters, and urethra are storing and releasing urine. Most of these tests are performed in the office of a urologista doctor who specializes in urinary problemsby a urologist, physician assistant, or nurse practitioner. Some procedures may require light sedation to keep the child calm. Most urodynamic tests focus on the bladders ability to hold urine and empty steadily and completely. Urodynamic tests can also show whether the bladder is having abnormal contractions that cause leakage. A health care provider may order these tests if there is evidence that the child has some kind of nerve damage or dysfunctional voidingunhealthy urination habits such as holding in urine when the bladder is full.


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[User] What causes Growth Failure in Children with Chronic Kidney Disease ?

[Assistant]
Researchers have found that many factors cause growth failure in children with CKD. In addition to removing wastes and extra fluid from the blood, the kidneys perform important functions for a childs growth. Understanding normal kidney function and growth helps families understand what causes growth failure in children with CKD.

Normal kidney function helps maintain the

- balance of nutrients and minerals, such as calcium and phosphorus, in the blood. These minerals are essential for normal bone growth. The kidneys use a hormone called calcitriol, a form of vitamin D, to help bones absorb the right amount of calcium from the blood. The kidneys also remove extra phosphorus, helping balance phosphorus and calcium levels in the blood.  - bodys ability to use growth hormone. Growth hormone is necessary during childhood to help bones grow and stay healthy. The pituitary gland naturally produces growth hormone, which acts as a messenger to help the body grow. Growth hormone tells the liver to produce another hormone, called insulin-like growth factor, that travels to muscles, organs, and bones and tells them to grow.  - correct levels of erythropoietin in the body. Erythropoietin is a hormone that helps bone marrow make red blood cells.  - proper balance of sodium, also called salt; potassium; and acid-base levels in the blood. Acid-base balance refers to the amount of acid in the blood.

Damaged kidneys can slow a childs growth by

- causing mineral and bone disorder, which occurs when      - vitamin D is not turned into calcitriol, which starves the bones of calcium.    - phosphorus levels rise in the blood and draw calcium out of the bones and into the blood, causing the bones to weaken.    - creating an imbalance of sodium, potassium, and acid-base levels in the blood, also called acidosis. When blood is not balanced, the body slows growth to focus energy on restoring the balance.  - decreasing appetite. A child with CKD may not be hungry, or he or she may not have the energy to eat, which may lead to poor nutrition and slower growth.  - decreasing the production of erythropoietin. When erythropoietin levels are low, a child may develop anemiaa condition that develops when the blood does not have enough healthy red blood cells to carry oxygen to cells throughout the body. Anemia can cause growth to slow or stop.  - making an abnormally large amount of urine, called polyuria, which disrupts the bodys fluid balance. A child with polyuria loses minerals as well. The body slows growth to make up for the lost fluid and minerals.  - preventing the body from correctly using growth hormone. When the kidneys are damaged, waste builds up in the blood and the body does not properly process growth hormone.


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[User] What are the symptoms of Severe congenital neutropenia X-linked ?

[Assistant] What are the signs and symptoms of Severe congenital neutropenia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia X-linked. 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 neutrophils 90% Decreased antibody level in blood 90% Abnormality of the skin - Congenital neutropenia - Recurrent bacterial infections - X-linked 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] How to diagnose Autoimmune hepatitis ?

[Assistant] How is autoimmune hepatitis diagnosed? The diagnosis of autoimmune hepatitis is typically made based on symptoms, blood tests, and a liver biopsy.


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[User] Is adenosine deaminase deficiency 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 is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?

[Assistant]
Before you were on dialysis, your doctor may have told you to follow a low-protein diet. Being on dialysis changes this. Most people on dialysis are encouraged to eat as much high-quality protein as they can. Protein helps you keep muscle and repair tissue. The better nourished you are, the healthier you will be. You will also have greater resistance to infection and recover from surgery more quickly.

Your body breaks protein down into a waste product called urea. If urea builds up in your blood, it's a sign you have become very sick. Eating mostly high-quality proteins is important because they produce less waste than others. High-quality proteins come from meat, fish, poultry, and eggs (especially egg whites).

Talk With a Dietitian   Meat, fish, and chicken are good sources of protein. Talk with a dietitian about the meats you eat.   I will eat ______ servings of meat each day. A regular serving size is 3 ounces. This is about the size of the palm of your hand or a deck of cards.   Try to choose lean (low-fat) meats that are also low in phosphorus. If you are a vegetarian, ask about other ways to get your protein.   Low-fat milk is a good source of protein. But milk is high in phosphorus and potassium. And milk adds to your fluid intake. Talk with a dietitian to see if milk fits into your food plan.   I (will) (will not) drink milk. I will drink ______ cup(s) of milk a day.