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

[User] are certain people at risk of getting vancomycin-resistant enterococci?

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


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

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

[Assistant] If you are pregnant, high blood pressure can cause problems for you and your unborn baby. You may have had high blood pressure before you got pregnant. Or you may get it once you are pregnant - a condition called gestational hypertension. Either one can cause low birth weight or premature delivery of the baby.    Controlling your blood pressure during pregnancy and getting regular prenatal care are important for the health of you and your baby. Treatments for high blood pressure in pregnancy may include close monitoring of the baby, lifestyle changes, and certain medicines.    Some pregnant women with high blood pressure develop preeclampsia. It's a sudden increase in blood pressure after the 20th week of pregnancy. It can be life-threatening for both you and the unborn baby. There is no proven way to prevent it. Most women who have signs of preeclampsia are closely monitored to lessen or avoid complications. The only way to "cure" preeclampsia is to deliver the baby.    NIH: National Heart, Lung, and Blood Institute


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

[User] What are the symptoms of Camptodactyly syndrome Guadalajara type 3 ?

[Assistant] What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna - Absent phalangeal crease - Autosomal dominant inheritance - Camptodactyly - Delayed skeletal maturation - Flat face - Hypertelorism - Intellectual disability, mild - Joint contracture of the hand - Malar flattening - Micropenis - Muscular hypotonia - Nevus - Retrognathia - Short neck - Small hypothenar eminence - Small thenar eminence - Spina bifida occulta - Telecanthus - Torticollis - Webbed neck - 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 are the treatments for dermatofibrosarcoma protuberans ?

[Assistant] These resources address the diagnosis or management of dermatofibrosarcoma protuberans:  - American Cancer Society: How are Soft Tissue Sarcomas Diagnosed?  - American Cancer Society: Treatment of Soft Tissue Sarcomas  - Genetic Testing Registry: Dermatofibrosarcoma protuberans  - National Cancer Institute: Adult Soft Tissue Sarcoma  - National Cancer Institute: Targeted Cancer 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


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

[User] What are the genetic changes related to carnitine palmitoyltransferase II deficiency ?

[Assistant] Mutations in the CPT2 gene cause CPT II deficiency. This gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, which is the multistep process that breaks down (metabolizes) fats and converts them into energy. Fatty acid oxidation takes place within mitochondria, which are the energy-producing centers in cells. A group of fats called long-chain fatty acids must be attached to a substance known as carnitine to enter mitochondria. Once these fatty acids are inside mitochondria, carnitine palmitoyltransferase 2 removes the carnitine and prepares them for fatty acid oxidation. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.  Mutations in the CPT2 gene reduce the activity of carnitine palmitoyltransferase 2. Without enough of this enzyme, carnitine is not removed from long-chain fatty acids. As a result, these fatty acids cannot be metabolized to produce energy. Reduced energy production can lead to some of the features of CPT II deficiency, such as hypoketotic hypoglycemia, myalgia, and weakness. Fatty acids and long-chain acylcarnitines (fatty acids still attached to carnitine) may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.


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

[User] What are the treatments for Pelizaeus-Merzbacher disease ?

[Assistant] These resources address the diagnosis or management of Pelizaeus-Merzbacher disease:  - Gene Review: Gene Review: PLP1-Related Disorders  - Genetic Testing Registry: Pelizaeus-Merzbacher 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


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

[User] What are the symptoms of Nonalcoholic Steatohepatitis ?

[Assistant] NASH is usually a silent disease with few or no symptoms. Patients generally feel well in the early stages and only begin to have symptomssuch as fatigue, weight loss, and weaknessonce the disease is more advanced or cirrhosis develops. The progression of NASH can take years, even decades. The process can stop and, in some cases, reverse on its own without specific therapy. Or NASH can slowly worsen, causing scarring or fibrosis to appear and accumulate in the liver. As fibrosis worsens, cirrhosis develops; the liver becomes seriously scarred, hardened, and unable to function normally. Not every person with NASH develops cirrhosis, but once serious scarring or cirrhosis is present, few treatments can halt the progression. A person with cirrhosis experiences fluid retention, muscle wasting, bleeding from the intestines, and liver failure. Liver transplantation is the only treatment for advanced cirrhosis with liver failure, and transplantation is increasingly performed in people with NASH. NASH ranks as one of the major causes of cirrhosis in America, behind hepatitis C and alcoholic liver disease.


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

[User] what are the symptoms for Hantavirus ?

[Assistant]
Due to the small number of HPS cases, the "incubation time" is not positively known. However, on the basis of limited information, it appears that symptoms may develop between 1 and 5 weeks after exposure to fresh urine, droppings, or saliva of infected rodents.
  Early Symptoms

Early symptoms include fatigue, fever and muscle aches, especially in the large muscle groups—thighs, hips, back, and sometimes shoulders. These symptoms are universal.

There may also be headaches, dizziness, chills, and abdominal problems, such as nausea, vomiting, diarrhea, and abdominal pain. About half of all HPS patients experience these symptoms.

  Late Symptoms

Four to 10 days after the initial phase of illness, the late symptoms of HPS appear. These include coughing and shortness of breath, with the sensation of, as one survivor put it, a "...tight band around my chest and a pillow over my face" as the lungs fill with fluid.

  Is the Disease Fatal?

Yes. HPS can be fatal. It has a mortality rate of 38%.


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

[User] What are the symptoms of Spastic paraplegia 2 ?

[Assistant] What are the signs and symptoms of Spastic paraplegia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hyperreflexia 90% Muscle weakness 90% Abnormal renal physiology 50% Abnormality of extrapyramidal motor function 50% Bowel incontinence 50% Cognitive impairment 50% Optic atrophy 50% Incoordination 7.5% Limitation of joint mobility 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Pulmonary embolism 7.5% Recurrent respiratory infections 7.5% Babinski sign - Degeneration of the lateral corticospinal tracts - Dysarthria - Dysmetria - Flexion contracture - Intellectual disability - Juvenile onset - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Phenotypic variability - Skeletal muscle atrophy - Spastic gait - Spastic paraparesis - Spastic paraplegia - Spinocerebellar tract degeneration - 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.


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

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

[Assistant]
Simple kidney cysts are abnormal, fluid-filled sacs that form in the kidneys. Simple kidney cysts are different from the cysts that develop when a person has polycystic kidney disease (PKD), which is a genetic disorder. Simple kidney cysts do not enlarge the kidneys, replace their normal structure, or cause reduced kidney function like cysts do in people with PKD.

Simple kidney cysts are more common as people age. An estimated 25 percent of people 40 years of age and 50 percent of people 50 years of age have simple kidney cysts.1


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

[User] What are the symptoms of Chronic Myelogenous Leukemia ?

[Assistant] Signs and symptoms of chronic myelogenous leukemia include fever, night sweats, and tiredness. These and other signs and symptoms may be caused by CML or by other conditions. Check with your doctor if you have any of the following:         - Feeling very tired.    - Weight loss for no known reason.    - Night sweats.    -  Fever.    - Pain or a feeling of fullness below the ribs on the left side.        Sometimes CML does not cause any symptoms at all.


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

[User] What are the treatments for Hemifacial Spasm ?

[Assistant] Surgical treatment in the form of microvascular decompression, which relieves pressure on the facial nerve, will relieve hemifacial spasm in many cases. This intervention has significant potential side-effects, so risks and benefits have to be carefully balanced. Other treatments include injections of botulinum toxin into the affected areas, which is the most effective therapy and the only one used in most cases. Drug therapy is generally not effective.


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

[User] What is (are) Early Infantile Epileptic Encephalopathy ?

[Assistant] Ohtahara syndrome is a neurological disorder characterized by seizures.  The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures.  Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs). Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases cant be determined. Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres.  The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity.  This pattern is known as burst suppression. The seizures associated with Ohtahara syndrome are difficult to treat and the syndrome is severely progressive. Some children with this condition go on to develop other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome.


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

[User] What are the symptoms of Hailey-Hailey disease ?

[Assistant] What are the signs and symptoms of Hailey-Hailey disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hailey-Hailey disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the oral cavity 90% Acantholysis 90% Hyperkeratosis 90% Skin ulcer 90% Autosomal dominant inheritance - Erythema - 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) androgenetic alopecia ?

[Assistant] Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic "M" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness.  The pattern of hair loss in women differs from male-pattern baldness. In women, the hair becomes thinner all over the head, and the hairline does not recede. Androgenetic alopecia in women rarely leads to total baldness.  Androgenetic alopecia in men has been associated with several other medical conditions including coronary heart disease and enlargement of the prostate. Additionally, prostate cancer, disorders of insulin resistance (such as diabetes and obesity), and high blood pressure (hypertension) have been related to androgenetic alopecia. In women, this form of hair loss is associated with an increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight gain.


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

[User] What are the treatments for X-linked thrombocytopenia ?

[Assistant] These resources address the diagnosis or management of X-linked thrombocytopenia:  - Gene Review: Gene Review: WAS-Related Disorders  - Genetic Testing Registry: Thrombocytopenia, X-linked  - National Heart Lung and Blood Institute: How is Thrombocytopenia 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


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

[User] How many people are affected by glycogen storage disease type IX ?

[Assistant] GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. The forms of the disease that affect muscles or both muscles and liver are much less common, although the prevalence is unknown.


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

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

[Assistant] Renpenning syndrome is a rare disorder; its prevalence is unknown. More than 60 affected individuals in at least 15 families have been identified.


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

[User] What are the symptoms of Pigmented purpuric eruption ?

[Assistant] What are the signs and symptoms of Pigmented purpuric eruption? Pigmented purpuric eruption is characterized by reddish-brown patches on the skin. These patches result from tiny red dots, sometimes referred to as cayenne pepper spots, which group together to form a flat red patch. Over time, these patches become brown and then slowly fade away, over weeks to months. There have been no systemic symptoms reported with pigmented purpuric eruption. The Human Phenotype Ontology provides the following list of signs and symptoms for Pigmented purpuric eruption. 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 skin - Autosomal dominant inheritance - Neonatal onset - 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] Is glycine encephalopathy 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 research (or clinical trials) is being done for Congenital Myopathy ?

[Assistant] The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to congenital myopathies in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure the disorders that make up the congenital myopathies.


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

[User] What are the symptoms of COACH syndrome ?

[Assistant] What are the signs and symptoms of COACH syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for COACH 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) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Biliary tract abnormality 90% Cognitive impairment 90% Congenital hepatic fibrosis 90% Elevated hepatic transaminases 90% Hepatomegaly 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Chorioretinal coloboma 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hyperreflexia 50% Iris coloboma 50% Long face 50% Narrow forehead 50% Nephropathy 50% Nystagmus 50% Optic nerve coloboma 50% Visual impairment 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the oral cavity 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Chronic hepatic failure 7.5% Cirrhosis 7.5% Encephalocele 7.5% Hernia of the abdominal wall 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Multicystic kidney dysplasia 7.5% Neoplasm of the liver 7.5% Oral cleft 7.5% Portal hypertension 7.5% Postaxial hand polydactyly 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Splenomegaly 7.5% Strabismus 7.5% Tremor 7.5% Ataxia - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Coloboma - Growth delay - Hepatic fibrosis - Heterogeneous - Hypertelorism - Infantile onset - Intellectual disability, moderate - Molar tooth sign on MRI - Multiple small medullary renal cysts - Nephronophthisis - Occipital encephalocele - Round face - Spasticity - Wide mouth - 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] How many people are affected by trichohepatoenteric syndrome ?

[Assistant] Trichohepatoenteric syndrome is a rare condition with an estimated prevalence of about 1 in 1 million people. At least 44 cases have been reported in the medical literature.


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

[User] What is (are) Congenital adrenal hyperplasia ?

[Assistant] Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone). The signs and symptoms present in each person depend on many factors including the type of CAH, the age of diagnosis, and the sex of the affected person. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. Treatment for CAH varies but may include medication and/or surgery.


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

[User] Is triple A syndrome inherited ?

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


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

[User] What is (are) Child Behavior Disorders ?

[Assistant] All kids misbehave some times. And some may have temporary behavior problems due to stress. For example, the birth of a sibling, a divorce, or a death in the family may cause a child to act out. Behavior disorders are more serious. They involve a pattern of hostile, aggressive, or disruptive behaviors for more than 6 months. The behavior is also not appropriate for the child's age.    Warning signs can include       - Harming or threatening themselves, other people or pets    - Damaging or destroying property     - Lying or stealing     - Not doing well in school, skipping school     - Early smoking, drinking or drug use     - Early sexual activity     - Frequent tantrums and arguments     - Consistent hostility towards authority figures         If you see signs of a problem, ask for help. Poor choices can become habits. Kids who have behavior problems are at higher risk for school failure, mental health problems, and even suicide. Classes or family therapy may help parents learn to set and enforce limits. Talk therapy and behavior therapy for your child can also help.


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

[User] What is the outlook for Hypertonia ?

[Assistant] The prognosis depends upon the severity of the hypertonia and its cause. In some cases, such as cerebral palsy, the hypertonia may not change over the course of a lifetime. in other cases, the hypertonia may worsen along with the underlying disease If the hypertonia is mild, it has little or no effect on a person's health. If there is moderate hypertonia, falls or joint contractures may have an impact on a person's health and safety. If the hypertonia is so severe that is caused immobility, potential consequences include increased bone fragility and fracture, infection, bed sores, and pneumonia.


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

[User] What is (are) familial pityriasis rubra pilaris ?

[Assistant] Familial pityriasis rubra pilaris is a rare genetic condition that affects the skin. The name of the condition reflects its major features: The term "pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests the involvement of hair follicles in this disorder. Affected individuals have a salmon-colored skin rash covered in fine scales. This rash occurs in patches all over the body, with distinct areas of unaffected skin between the patches. Affected individuals also develop bumps called follicular keratoses that occur around hair follicles. The skin on the palms of the hands and soles of the feet often becomes thick, hard, and callused, a condition known as palmoplantar keratoderma.  Researchers have distinguished six types of pityriasis rubra pilaris based on the features of the disorder and the age at which signs and symptoms appear. The familial form is usually considered part of type V, which is also known as the atypical juvenile type. People with familial pityriasis rubra pilaris typically have skin abnormalities from birth or early childhood, and these skin problems persist throughout life.


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

[User] What are the symptoms of Aneurysm ?

[Assistant]
The signs and symptoms of an aortic aneurysm depend on the type and location of the aneurysm. Signs and symptoms also depend on whether the aneurysm has ruptured (burst) or is affecting other parts of the body.

Aneurysms can develop and grow for years without causing any signs or symptoms. They often don't cause signs or symptoms until they rupture, grow large enough to press on nearby body parts, or block blood flow.

Abdominal Aortic Aneurysms

Most abdominal aortic aneurysms (AAAs) develop slowly over years. They often don't cause signs or symptoms unless they rupture. If you have an AAA, your doctor may feel a throbbing mass while checking your abdomen.

When symptoms are present, they can include:

A throbbing feeling in the abdomen

Deep pain in your back or the side of your abdomen

Steady, gnawing pain in your abdomen that lasts for hours or days

If an AAA ruptures, symptoms may include sudden, severe pain in your lower abdomen and back; nausea (feeling sick to your stomach) and vomiting; constipation and problems with urination; clammy, sweaty skin; light-headedness; and a rapid heart rate when standing up.

Internal bleeding from a ruptured AAA can send you into shock. Shock is a life-threatening condition in which blood pressure drops so low that the brain, kidneys, and other vital organs can't get enough blood to work well. Shock can be fatal if its not treated right away.

Thoracic Aortic Aneurysms

A thoracic aortic aneurysm (TAA) may not cause symptoms until it dissects or grows large. If you have symptoms, they may include:

Pain in your jaw, neck, back, or chest

Coughing and/or hoarseness

Shortness of breath and/or trouble breathing or swallowing

A dissection is a split in one or more layers of the artery wall. The split causes bleeding into and along the layers of the artery wall.

If a TAA ruptures or dissects, you may feel sudden, severe, sharp or stabbing pain starting in your upper back and moving down into your abdomen. You may have pain in your chest and arms, and you can quickly go into shock.

If you have any symptoms of TAA or aortic dissection, call 911. If left untreated, these conditions may lead to organ damage or death.


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

[User] What are the treatments for late-infantile neuronal ceroid lipofuscinosis ?

[Assistant] These resources address the diagnosis or management of late-infantile neuronal ceroid lipofuscinosis:  - Gene Review: Gene Review: Neuronal Ceroid-Lipofuscinoses  - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 5  - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 6  - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 7  - Genetic Testing Registry: Ceroid lipofuscinosis neuronal 8  - Genetic Testing Registry: Late-infantile neuronal ceroid lipofuscinosis  - Genetic Testing Registry: 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


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

[User] What is (are) mucopolysaccharidosis type II ?

[Assistant] Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.  At birth, individuals with MPS II do not display any features of the condition. Between ages 2 and 4, they develop full lips, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). As the disorder progresses, individuals need medical assistance to keep their airway open.  Many other organs and tissues are affected in MPS II. Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss and have recurrent ear infections. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. The heart is also significantly affected by MPS II, and many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to heart failure.  Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature. Individuals with this condition have joint deformities (contractures) that significantly affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Dysostosis multiplex includes a generalized thickening of most long bones, particularly the ribs.  There are two types of MPS II, called the severe and mild types. While both types affect many different organs and tissues as described above, people with severe MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with the severe form begin to lose basic functional skills (developmentally regress) between the ages of 6 and 8. The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.


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

[User] What are the complications of Alagille Syndrome ?

[Assistant]
The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. People with Alagille syndrome usually have a combination of complications, and may not have every complication listed below.

Liver failure. Over time, the decreased number of bile ducts may lead to chronic liver failure, also called end-stage liver disease. This condition progresses over months, years, or even decades. The liver can no longer perform important functions or effectively replace damaged cells. A person may need a liver transplant. A liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy whole liver or a segment of a liver from another person, called a donor.

Portal hypertension. The spleen is the organ that cleans blood and makes white blood cells. White blood cells attack bacteria and other foreign cells. Blood flow from the spleen drains directly into the liver. When a person with Alagille syndrome has advanced liver disease, the blood flow backs up into the spleen and other blood vessels. This condition is called portal hypertension. The spleen may become larger in the later stages of liver disease. A person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal hypertension can lead to serious bleeding problems.

Growth problems. Alagille syndrome can lead to poor growth in infants and children, as well as delayed puberty in older children. Liver disease can cause malabsorption, which can result in growth problems. Malabsorption is the inability of the small intestine to absorb nutrients from foods, which results in protein, calorie, and vitamin deficiencies. Serious heart problems, if present in Alagille syndrome, can also affect growth.

Malabsorption. People with Alagille syndrome may have diarrhealoose, watery stoolsdue to malabsorption. The condition occurs because bile is necessary for the digestion of food. Malabsorption can lead to bone fractures, eye problems, blood-clotting problems, and learning delays.

Long-term Outlook

The long-term outlook for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart problems. Predicting who will experience improved bile flow and who will progress to chronic liver failure is difficult. Ten to 30 percent of people with Alagille syndrome will eventually need a liver transplant.3

Many adults with Alagille syndrome whose symptoms improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by chronic liver failure, heart problems, and blood vessel problems.


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

[User] Is thiamine-responsive megaloblastic anemia syndrome inherited ?

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


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

[User] What is (are) Childbirth ?

[Assistant] When you are ready to have your baby, you'll go through labor. Contractions let you know labor is starting. When contractions are five minutes apart, your body is ready to push the baby out.    During the first stage of labor, your cervix slowly opens, or dilates, to about 4 inches wide. At the same time, it becomes thinner. This is called effacement. You shouldn't push until your uterus is fully effaced and dilated. When it is, the baby delivery stage starts. Crowning is when your baby's scalp comes into view. Shortly afterward, your baby is born. The placenta that nourished the baby follows.    Mothers and babies are monitored closely during labor. Most women are healthy enough to have a baby through normal vaginal delivery, meaning that the baby comes down the birth canal without surgery. If there are complications, the baby may need to be delivered surgically by a Cesarean section.     Dept. of Health and Human Services Office on Women's Health


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

[User] What is (are) childhood myocerebrohepatopathy spectrum ?

[Assistant] Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few months to 3 years old. People with this condition usually have problems with their muscles (myo-), brain (cerebro-), and liver (hepato-).  Common signs and symptoms of MCHS include muscle weakness (myopathy), developmental delay or a deterioration of intellectual function, and liver disease. Another possible sign of this condition is a toxic buildup of lactic acid in the body (lactic acidosis). Often, affected children are unable to gain weight and grow at the expected rate (failure to thrive).  Additional signs and symptoms of MCHS can include a form of kidney disease called renal tubular acidosis, inflammation of the pancreas (pancreatitis), recurrent episodes of nausea and vomiting (cyclic vomiting), or hearing loss.


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

[User] What are the symptoms of Spinocerebellar ataxia 34 ?

[Assistant] What are the signs and symptoms of Spinocerebellar ataxia 34? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 34. 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) Dry skin 90% Gait disturbance 90% Hypermelanotic macule 90% Hypohidrosis 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Urticaria 90% Abnormality of the musculature 7.5% Facial asymmetry 7.5% Strabismus 7.5% Fasciculations 5% Intention tremor 5% Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysdiadochokinesis - Gait ataxia - Hyperkeratosis - Hyporeflexia - 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 are the treatments for craniometaphyseal dysplasia ?

[Assistant] These resources address the diagnosis or management of craniometaphyseal dysplasia:  - Gene Review: Gene Review: Craniometaphyseal Dysplasia, Autosomal Dominant  - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal dominant  - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal recessive type  - MedlinePlus Encyclopedia: Facial Paralysis   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


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

[User] What are the symptoms of Total Hypotrichosis, Mari type ?

[Assistant] What are the signs and symptoms of Total Hypotrichosis, Mari type? The Human Phenotype Ontology provides the following list of signs and symptoms for Total Hypotrichosis, Mari type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Woolly hair 5% Autosomal recessive inheritance - Hypotrichosis - Sparse eyebrow - Sparse eyelashes - 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 are the symptoms of Pyelonephritis: Kidney Infection ?

[Assistant]
Symptoms of pyelonephritis can vary depending on a persons age and may include the following:

- fever  - vomiting  - back, side, and groin pain  - chills  - nausea  - frequent, painful urination

Children younger than 2 years old may only have a high fever without symptoms related to the urinary tract. Older people may not have any symptoms related to the urinary tract either; instead, they may exhibit confusion, disordered speech, or hallucinations.


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

[User] What are the symptoms of Malignant hyperthermia susceptibility type 3 ?

[Assistant] What are the signs and symptoms of Malignant hyperthermia susceptibility type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia susceptibility type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Alcohol-induced rhabdomyolysis - Anesthetic-induced rhabdomylosis - Elevated serum creatine phosphokinase - Exercise-induced rhabdomyolysis - Fever - Heterogeneous - Hyperkalemia - Hyperphosphatemia - Hypertonia - Lactic acidosis - Malignant hyperthermia - Myopathy - Viral infection-induced rhabdomyolysis - 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 to do for Pyelonephritis: Kidney Infection ?

[Assistant] Eating, diet, and nutrition have not been shown to play a role in causing or preventing pyelonephritis.


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

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

[Assistant] Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. It is more common in certain populations; for example, the condition affects about 1 in 9,000 people of Finnish ancestry and about 1 in 3,000 people of Belgian ancestry.


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

[User] Is Joubert syndrome inherited ?

[Assistant] Joubert syndrome typically has an autosomal recessive pattern of inheritance, 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 the mutated gene, but they usually do not show signs and symptoms of the condition.  Rare cases of Joubert syndrome are inherited in an X-linked recessive pattern. In these cases, the causative gene 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.


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

[User] What is (are) Inflammatory breast cancer ?

[Assistant] Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an orange. IBC can be difficult to diagnose because there is no lump to feel or detect on a mammogram. It is crucial to identify IBC right away because early diagnosis and treatment can greatly improve the outcome. Patients are often given a combination of treatments, including chemotherapy, surgery, and radiation therapy. Approximately one-third of individuals diagnosed with IBC will become long-term survivors. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Some studies have shown an association between family history of breast cancer and IBC, but more studies are needed to draw firm conclusions.


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

[User] What are the treatments for Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?

[Assistant] Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.


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

[User] What are the symptoms of Banki syndrome ?

[Assistant] What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki 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 metacarpal bones 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Synostosis of carpal bones 90% Autosomal dominant inheritance - Clinodactyly - Radial deviation of finger - 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] Is Waldenstrm macroglobulinemia inherited ?

[Assistant] Waldenstrm macroglobulinemia is usually not inherited, and most affected people have no history of the disorder in their family. The condition usually arises from mutations that are acquired during a person's lifetime (somatic mutations), which are not inherited.  Some families seem to have a predisposition to the condition. Approximately 20 percent of people with Waldenstrm macroglobulinemia have a family member with the condition or another disorder involving abnormal B cells.


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

[User] How to diagnose Holes in the Heart ?

[Assistant]
Doctors usually diagnose holes in the heart based on a physical exam and the results from tests and procedures. The exam findings for an atrial septal defect (ASD) often aren't obvious. Thus, the diagnosis sometimes isn't made until later in childhood or even in adulthood.

Ventricular septal defects (VSDs) cause a very distinct heart murmur. Because of this, a diagnosis usually is made in infancy.

Specialists Involved

Doctors who specialize in diagnosing and treating heart problems are called cardiologists. Pediatric cardiologists take care of babies and children who have heart problems. Cardiac surgeons repair heart defects using surgery.

Physical Exam

During a physical exam, your child's doctor will listen to your child's heart and lungs with a stethoscope. The doctor also will look for signs of a heart defect, such as a heart murmur or signs of heart failure.

Diagnostic Tests and Procedures

Your child's doctor may recommend several tests to diagnose an ASD or VSD. These tests also will help the doctor figure out the location and size of the defect.

Echocardiography

Echocardiography (echo) is a painless test that uses sound waves to create a moving picture of the heart. The sound waves (called ultrasound) bounce off the structures of the heart. A computer converts the sound waves into pictures on a screen.

Echo allows the doctor to clearly see any problem with the way the heart is formed or the way it's working.

Echo is an important test for both diagnosing a hole in the heart and following the problem over time. Echo can show problems with the heart's structure and how the heart is reacting to the problems. This test will help your child's cardiologist decide whether and when treatment is needed.

EKG (Electrocardiogram)

An EKG is a simple, painless test that records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through the heart.

An EKG can detect whether one of the heart's chambers is enlarged, which can help diagnose a heart problem.

Chest X Ray

A chest x ray is a painless test that creates pictures of the structures in the chest, such as the heart, lungs, and blood vessels.

This test can show whether the heart is enlarged. A chest x ray also can show whether the lungs have extra blood flow or extra fluid, a sign of heart failure.

Pulse Oximetry

Pulse oximetry shows the level of oxygen in the blood. A small sensor is attached to a finger or ear. The sensor uses light to estimate how much oxygen is in the blood.

Cardiac Catheterization

During cardiac catheterization (KATH-e-ter-i-ZA-shun), a thin, flexible tube called a catheter is put into a vein in the arm, groin (upper thigh), or neck. The tube is threaded to the heart.

Special dye is injected through the catheter into a blood vessel or one of the heart's chambers. The dye allows the doctor to see the flow of blood through the heart and blood vessels on an x-ray image.

The doctor also can use cardiac catheterization to measure the pressure inside the heart chambers and blood vessels. This can help the doctor figure out whether blood is mixing between the two sides of the heart.

Doctors also use cardiac catheterization to repair some heart defects. For more information, go to "How Are Holes in the Heart Treated?"


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

[User] How many people are affected by congenital bilateral absence of the vas deferens ?

[Assistant] This condition is responsible for 1 percent to 2 percent of all infertility in men.


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

[User] Do you have information about Child Dental Health

[Assistant] Summary : Healthy teeth are important to your child's overall health. From the time your child is born, there are things you can do to promote healthy teeth and prevent cavities. For babies, you should clean teeth with a soft, clean cloth or baby's toothbrush. Avoid putting the baby to bed with a bottle and check teeth regularly for spots or stains.    For all children, you should       - Start using a pea-sized amount of fluoride toothpaste when they are two years old. You might start sooner, if a dentist or doctor suggests it.    - Provide healthy foods and limit sweet snacks and drinks    - Schedule regular dental check-ups        Forming good habits at a young age can help your child have healthy teeth for life.     NIH: National Institute of Dental and Craniofacial Research


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

[User] What are the symptoms of Dopamine beta hydroxylase deficiency ?

[Assistant] What are the signs and symptoms of Dopamine beta hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dopamine beta hydroxylase deficiency. 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 - High palate - Neonatal hypoglycemia - Nocturia - Orthostatic hypotension - Ptosis - Retrograde ejaculation - Seizures - 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 are the symptoms of Thrombocytopenia with elevated serum IgA and renal disease ?

[Assistant] What are the signs and symptoms of Thrombocytopenia with elevated serum IgA and renal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombocytopenia with elevated serum IgA and renal disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Glomerulonephritis - Hematuria - Increased IgA level - Thrombocytopenia - 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.


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

[User] How many people are affected by activated PI3K-delta syndrome ?

[Assistant] The prevalence of activated PI3K-delta syndrome is unknown.


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

[User] Is Townes-Brocks syndrome inherited ?

[Assistant] Is Townes-Brocks syndrome genetic? Yes. Townes-Brocks syndrome is inherited in an autosomal dominant fashion, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50% of cases, an affected person inherits the mutation from an affected parent. The other 50% have the condition as a result of a new (de novo) mutation.


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

[User] What are the symptoms of Limited cutaneous systemic sclerosis ?

[Assistant] What are the signs and symptoms of Limited cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Limited cutaneous systemic sclerosis. 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) Acrocyanosis 90% Autoimmunity 90% Dry skin 90% Hypopigmented skin patches 90% Chondrocalcinosis 50% Feeding difficulties in infancy 50% Mucosal telangiectasiae 50% Nausea and vomiting 50% Skin ulcer 50% Telangiectasia of the skin 50% Camptodactyly of toe 7.5% Pulmonary fibrosis 7.5% Pulmonary hypertension 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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

[User] What are the symptoms of Glucose transporter type 1 deficiency syndrome ?

[Assistant] What are the signs and symptoms of Glucose transporter type 1 deficiency syndrome? The most common form of glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome), called the classic type, may be characterized by: Recurrent seizures (epilepsy) beginning in the first months of life Microcephaly (unusually small head size) that develops after birth Developmental delay Intellectual disability Speech and language impairment Movement abnormalities (i.e. involuntary eye movements, spasticity, ataxia, dystonia) Behavioral problems Other signs and symptoms may include headaches, confusion, loss of energy and/or myoclonus (muscle twitches). Approximately 10% of affected people have the non-epileptic form of GLUT1 deficiency syndrome. This form is associated with all the typical symptoms of the condition without seizures. The Human Phenotype Ontology provides the following list of signs and symptoms for Glucose transporter type 1 deficiency 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) Seizures 75% Autosomal recessive inheritance 5% Abnormality of metabolism/homeostasis - Ataxia - Autosomal dominant inheritance - Babinski sign - Choreoathetosis - Confusion - Delayed speech and language development - Dysarthria - EEG abnormality - Hemiparesis - Hyperreflexia - Hypoglycorrhachia - Infantile onset - Intellectual disability - Myoclonus - Paralysis - Paroxysmal dystonia - Paroxysmal involuntary eye movements - Paroxysmal lethargy - Phenotypic variability - Postnatal microcephaly - Sleep disturbance - Spasticity - Specific learning disability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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

[User] What is (are) Miscarriage ?

[Assistant] A miscarriage is the loss of pregnancy from natural causes before the 20th week of pregnancy. Most miscarriages occur very early in the pregnancy, often before a woman even knows she is pregnant. There are many different causes for a miscarriage. In most cases, there is nothing you can do to prevent a miscarriage.    Factors that may contribute to miscarriage include       - A genetic problem with the fetus. This is the most common cause in the first trimester.    - Problems with the uterus or cervix. These contribute in the second trimester.    - Polycystic ovary syndrome       Signs of a miscarriage can include vaginal spotting or bleeding, abdominal pain or cramping, and fluid or tissue passing from the vagina. Although vaginal bleeding is a common symptom of miscarriage, many women have spotting early in their pregnancy but do not miscarry. But if you are pregnant and have bleeding or spotting, contact your health care provider immediately.    Women who miscarry early in their pregnancy usually do not need any treatment. In some cases, you may need a procedure called a dilatation and curettage (D&C) to remove tissue remaining in the uterus.    Counseling may help you cope with your grief. Later, if you do decide to try again, work closely with your health care provider to lower the risks. Many women who have a miscarriage go on to have healthy babies.    NIH: National Institute of Child Health and Human Development


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

[User] What are the symptoms of Congenital radio-ulnar synostosis ?

[Assistant] What are the signs and symptoms of Congenital radio-ulnar synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital radio-ulnar synostosis. 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 - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - 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 research (or clinical trials) is being done for Normal Pressure Hydrocephalus ?

[Assistant] The NINDS conducts and supports research on neurological disorders, including normal pressure hydrocephalus. Research on disorders such as normal pressure hydrocephalus focuses on increasing knowledge and understanding of the disorder, improving diagnostic techniques and neuroimaging, and finding improved treatments and preventions.


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

[User] What is (are) hand-foot-genital syndrome ?

[Assistant] Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system. People with this condition have abnormally short thumbs and first (big) toes, small fifth fingers that curve inward (clinodactyly), short feet, and fusion or delayed hardening of bones in the wrists and ankles. The other bones in the arms and legs are normal.  Abnormalities of the genitals and urinary tract can vary among affected individuals. Many people with hand-foot-genital syndrome have defects in the ureters, which are tubes that carry urine from each kidney to the bladder, or in the urethra, which carries urine from the bladder to the outside of the body. Recurrent urinary tract infections and an inability to control the flow of urine (urinary incontinence) have been reported. About half of males with this disorder have the urethra opening on the underside of the penis (hypospadias).  People with hand-foot-genital syndrome are usually able to have children (fertile). In some affected females, problems in the early development of the uterus can later increase the risk of pregnancy loss, premature labor, and stillbirth.


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

[User] What causes Balance Problems ?

[Assistant] Yes. Many prescription medications, such as those used to lower blood pressure, can make a person feel dizzy. Other medicines might damage the inner ear. These medicines, called ototoxic medicines, can make you feel off balance. Sometimes the damage lasts only as long as you take the drug. Other times it is permanent. Groups of drugs that are more likely to be ototoxic include - antidepressants  - anti-seizure drugs (anticonvulsants)  - hypertensive (high blood pressure) drugs  - sedatives  - tranquilizers  - anxiolytics (anti-anxiety drugs)   - aminoglycosides (a type of antibiotic)   - diuretics  - vasodilators  - certain analgesics (painkillers)  - certain chemotherapeutics (anti-cancer drugs).  antidepressants anti-seizure drugs (anticonvulsants) hypertensive (high blood pressure) drugs sedatives tranquilizers anxiolytics (anti-anxiety drugs) aminoglycosides (a type of antibiotic) diuretics vasodilators certain analgesics (painkillers) certain chemotherapeutics (anti-cancer drugs).


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

[User] What are the genetic changes related to Rett syndrome ?

[Assistant] Classic Rett syndrome and some variant forms of the condition are caused by mutations in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) that is critical for normal brain function. Although the exact function of the MeCP2 protein is unclear, it is likely involved in maintaining connections (synapses) between nerve cells (neurons). It may also be necessary for the normal function of other types of brain cells.  The MeCP2 protein is thought to help regulate the activity of genes in the brain. This protein may also control the production of different versions of certain proteins in brain cells. Mutations in the MECP2 gene alter the MeCP2 protein or result in the production of less protein, which appears to disrupt the normal function of neurons and other cells in the brain. Specifically, studies suggest that changes in the MeCP2 protein may reduce the activity of certain neurons and impair their ability to communicate with one another. It is unclear how these changes lead to the specific features of Rett syndrome.  Several conditions with signs and symptoms overlapping those of Rett syndrome have been found to result from mutations in other genes. These conditions, including FOXG1 syndrome, were previously thought to be variant forms of Rett syndrome. However, doctors and researchers have identified some important differences between the conditions, so they are now usually considered to be separate disorders.


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

[User] What are the treatments for Bronchitis ?

[Assistant]
The main goals of treating acute and chronic bronchitis are to relieve symptoms and make breathing easier.

If you have acute bronchitis, your doctor may recommend rest, plenty of fluids, and aspirin (for adults) or acetaminophen to treat fever.

Antibiotics usually aren't prescribed for acute bronchitis. This is because they don't work against virusesthe most common cause of acute bronchitis. However, if your doctor thinks you have a bacterial infection, he or she may prescribe antibiotics.

A humidifier or steam can help loosen mucus and relieve wheezing and limited air flow. If your bronchitis causes wheezing, you may need an inhaled medicine to open your airways. You take this medicine using an inhaler. This device allows the medicine to go straight to your lungs.

Your doctor also may prescribe medicines to relieve or reduce your cough and treat your inflamed airways (especially if your cough persists).

If you have chronic bronchitis and also have been diagnosed with COPD (chronic obstructive pulmonary disease), you may need medicines to open your airways and help clear away mucus. These medicines include bronchodilators (inhaled) and steroids (inhaled or pill form).

If you have chronic bronchitis, your doctor may prescribe oxygen therapy. This treatment can help you breathe easier, and it provides your body with needed oxygen.

One of the best ways to treat acute and chronic bronchitis is to remove the source of irritation and damage to your lungs. If you smoke, it's very important to quit.

Talk with your doctor about programs and products that can help you quit smoking. Try to avoid secondhand smoke and other lung irritants, such as dust, fumes, vapors, and air pollution.

For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart." Although these resources focus on heart health, they include general information about how to quit smoking.


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

[User] What is (are) Fine-Lubinsky syndrome ?

[Assistant] Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.


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

[User] What is (are) Sydenham Chorea ?

[Assistant] Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls more often than boys and typically occurs between 5 and 15 years of age. Some children will have a sore throat several weeks before the symptoms begin, but the disorder can also strike up to 6 months after the fever or infection has cleared. Symptoms can appear gradually or all at once, and also may include uncoordinated movements, muscular weakness, stumbling and falling, slurred speech, difficulty concentrating and writing, and emotional instability. The symptoms of SD can vary from a halting gait and slight grimacing to involuntary movements that are frequent and severe enough to be incapacitating. The random, writhing movements of chorea are caused by an auto-immune reaction to the bacterium that interferes with the normal function of a part of the brain (the basal ganglia) that controls motor movements. Due to better sanitary conditions and the use of antibiotics to treat streptococcal infections, rheumatic fever, and consequently SD, are rare in North America and Europe. The disease can still be found in developing nations.


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

[User] What are the symptoms of Hypolipoproteinemia ?

[Assistant] Are there other symptoms associated with hypolipoproteinemia? Some reports suggest that hypolipoproteinemia (low cholesterol levels) in general may increase the risk for development of fatty livers.


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

[User] What are the symptoms of Von Hippel-Lindau disease ?

[Assistant] What are the signs and symptoms of Von Hippel-Lindau disease? Symptoms of Von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of the tumors. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss. Pheochromocytomas affect the adrenal glands, which are small hormone-producing glands located on top of each kidney. These tumors often cause no symptoms, but in some cases they can produce an excess of hormones that cause dangerously high blood pressure. About 10 percent of people with VHL disease develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Individuals with VHL disease are also at a higher risk than normal for certain types of cancer, especially kidney cancer. Renal cell carcinoma occurs in about 70% of individuals with VHL disease by age 60 and is the leading cause of mortality. The Human Phenotype Ontology provides the following list of signs and symptoms for Von Hippel-Lindau disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 90% Abnormality of the retinal vasculature 90% Aplasia/Hypoplasia of the cerebellum 90% Arteriovenous malformation 90% Neurological speech impairment 90% Nystagmus 90% Pancreatic cysts 90% Renal neoplasm 90% Sensorineural hearing impairment 90% Visceral angiomatosis 90% Gait disturbance 50% Hemiplegia/hemiparesis 50% Hydrocephalus 50% Incoordination 50% Migraine 50% Multicystic kidney dysplasia 50% Nausea and vomiting 50% Telangiectasia of the skin 50% Visual impairment 50% Abnormality of the lymphatic system 7.5% Abnormality of the macula 7.5% Arrhythmia 7.5% Cataract 7.5% Glaucoma 7.5% Hyperhidrosis 7.5% Hypertensive crisis 7.5% Increased intracranial pressure 7.5% Neoplasm of the middle ear 7.5% Neuroendocrine neoplasm 7.5% Polycystic kidney dysplasia 7.5% Retinal detachment 7.5% Abnormality of the liver - Autosomal dominant inheritance - Cerebellar hemangioblastoma - Epididymal cyst - Hypertension - Multiple renal cysts - Neoplasm of the pancreas - Papillary cystadenoma of the epididymis - Paraganglioma - Phenotypic variability - Pheochromocytoma - Polycythemia - Pulmonary capillary hemangiomatosis - Renal cell carcinoma - Retinal capillary hemangioma - Spinal hemangioblastoma - Tinnitus - Vertigo - 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) Tietz syndrome ?

[Assistant] Tietz syndrome is a rare condition that affects the development of melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes). Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-colored hair. It is caused by changes (mutations) in the MITF gene and inherited in an autosomal dominant manner. The goal of treatment is to improve hearing; cochlear implantation may be considered.


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

[User] What are the symptoms of Stratton-Garcia-Young syndrome ?

[Assistant] What are the signs and symptoms of Stratton-Garcia-Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stratton-Garcia-Young 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 mitral valve 90% Abnormality of the palate 90% Abnormality of the shoulder 90% Brachydactyly syndrome 90% Cognitive impairment 90% Convex nasal ridge 90% Hernia of the abdominal wall 90% Long thorax 90% Micromelia 90% Reduced number of teeth 90% 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) Multiple endocrine neoplasia type 1 ?

[Assistant] Multiple endocrine neoplasia, type 1 (MEN1) is an inherited condition that causes tumors of the endocrine system (the body's network of hormone-producing glands). People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often "functional" and secrete excess hormones, which can cause a variety of health problems. The most common signs and symptoms of MEN1 are caused by hyperparathyroidism (overactive parathyroid gland) and may include kidney stones; thinning of bones; nausea and vomiting; high blood pressure (hypertension); weakness; and fatigue. MEN1 is caused by changes (mutations) in the MEN1 gene and is inherited in an autosomal dominant manner. Management for MEN1 usually includes regular screening to allow for early diagnosis and treatment of endocrine tumors.


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

[User] What are the symptoms of Polycystic Kidney Disease ?

[Assistant]
An early sign of autosomal recessive PKD is an enlarged kidney, seen in a fetus or an infant using ultrasound. Kidney function is crucial for early physical development, so children with autosomal recessive PKD and decreased kidney function are usually smaller-than-average size, a condition called growth failure.

Some people with autosomal recessive PKD do not develop signs or symptoms until later in childhood or even adulthood.


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

[User] What is (are) Bile Duct Cancer ?

[Assistant] Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes.    Bile duct cancer is rare. It can happen in the parts of the bile ducts that are outside or inside the liver. Cancer of the bile duct outside of the liver is much more common. Risk factors include having inflammation of the bile duct, ulcerative colitis, and some liver diseases.    Symptoms can include       - Jaundice    - Itchy skin    - Fever    - Abdominal pain       Tests to diagnose bile duct cancer may include a physical exam, imaging tests of the liver and bile ducts, blood tests, and a biopsy.    Treatments include surgery, radiation therapy, and chemotherapy.    NIH: National Cancer Institute


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

[User] What is (are) Lactose Intolerance ?

[Assistant] Lactose is a sugar found in milk and milk products. The small intestinethe organ where most food digestion and nutrient absorption take placeproduces an enzyme called lactase. Lactase breaks down lactose into two simpler forms of sugar: glucose and galactose. The body then absorbs these simpler sugars into the bloodstream.


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

[User] What is (are) Spasticity ?

[Assistant] Spasticity is a condition in which there is an abnormal increase in muscle tone or stiffness of muscle, which might interfere with movement, speech, or be associated with discomfort or pain. Spasticity is usually caused by damage to nerve pathways within the brain or spinal cord that control muscle movement. It may occur in association with spinal cord injury, multiple sclerosis, cerebral palsy, stroke, brain or head trauma, amyotrophic lateral sclerosis, hereditary spastic paraplegias, and metabolic diseases such as adrenoleukodystrophy, phenylketonuria, and Krabbe disease. Symptoms may include hypertonicity (increased muscle tone), clonus (a series of rapid muscle contractions), exaggerated deep tendon reflexes, muscle spasms, scissoring (involuntary crossing of the legs), and fixed joints (contractures). The degree of spasticity varies from mild muscle stiffness to severe, painful, and uncontrollable muscle spasms. Spasticity can interfere with rehabilitation in patients with certain disorders, and often interferes with daily activities.


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

[User] What is (are) Pelizaeus-Merzbacher Disease ?

[Assistant]
Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain. The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein-1 (PLP1). PMD is inherited as an X-linked recessive trait; the affected individuals are male and the mothers are carriers of the PLP1 mutation. Severity and onset of the disease ranges widely, depending on the type of PLP1 mutation. PMD is one of a spectrum of diseases associated with PLP1, which also includes Spastic Paraplegia Type 2 (SPG2). The PLP1-related disorders span a continuum of neurologic symptoms that range from severe central nervous system involvement (PMD) to progressive weakness and stiffness of the legs (SPG2). There are four general classifications within this spectrum of diseases. In order of severity, they are:

- Connatal PMD, which is the most severe type and involves delayed mental and physical development and severe neurological symptoms; - Classic PMD, in which the early symptoms include muscle weakness, involuntary movements of the eyes (nystagmus), and delays in motor development within the first year of life; - Complicated SPG2, which features motor development issues and brain involvement, and, - Pure SPG2, which includes cases of PMD that do not have neurologic complications.

Noticeable changes in the extent of myelination can be detected by MRI analyses of the brain. Additional symptoms of PMD may include slow growth, tremor, failure to develop normal control of head movement, and deteriorating speech and cognitive function.


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

[User] Where to find support for people with Alcohol Use and Older Adults ?

[Assistant] Many people with alcohol problems find it helpful to talk with others who have faced similar problems. Mutual help groups, such as Alcoholics Anonymous (AA) 12-step programs, help people recover from alcohol use disorder. AA meetings are open to anyone who wants to stop drinking. Attending mutual-help groups is beneficial for many people who want to stop drinking. Many people continue to go to support/mutual help groups even after medical treatment for their alcohol problems ends. There are other mutual help groups available such as Smart Recovery, Life Ring, and Moderation Management.  Learn more about available types of treatment for alcohol problems.


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

[User] Is Osteomesopyknosis inherited ?

[Assistant] How is osteomesopyknosis inherited? Osteomesopyknosis is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene (which has not yet been identified) is enough to cause signs or symptoms of the disorder. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected. There have been reported cases where both parents of an affected person did not appear to have the condition. The chance of having signs and symptoms when the responsible mutation is present (penetrance), and potential nature of signs and symptoms (expressivity), is not clear.


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

[User] What is (are) Acrodermatitis enteropathica ?

[Assistant] Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances can also occur. The inherited form is caused by mutations in the SLC39A4 gene and inherited in an autosomal recessive pattern. The acquired form can result from diets lacking the appropriate amount of zinc. Supplemental zinc usually eliminates the symptoms of acrodermatitis enteropathica.


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

[User] What is (are) Itching ?

[Assistant] Itching is skin tingling or irritation that makes you want to scratch the itchy area. It's a symptom of many health conditions. Common causes are        -  Allergic reactions    -  Eczema    -  Dry skin    -  Insect bites and stings    -  Irritating chemicals    -  Parasites such as pinworms, scabies, head and body lice    -  Pregnancy    -  Rashes    -  Reactions to medicines       To soothe itchy skin, you can try cold compresses, lotions and lukewarm baths. Avoid scratching, wearing irritating fabrics and high heat and humidity. Most itching is not serious. However, if you itch all over, have hives that keep coming back or have itching without an apparent cause, you might require medical attention.