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Amgen, which has said it could file for regulatory approval of PCSK9 drug evolocumab this year, said it has been proactivelyFDA Asks Drug Companies To Assess Cholesterol Drug's Cognitive Risks
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She also described an increased ability to decode others' mental states, including their emotions, the researchers said. HerBrain Surgery To Remove Amygdala Leads To Woman's 'Hyper Empathy'
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Eye Diseases and Health Conditions Most people develop low vision because of eye diseases and health conditions like macular degeneration, cataracts, glaucoma, and diabetes. Your eye care professional can tell the difference between normal changes in the aging eye and those caused by eye diseases. Injuries and Birth Defects A few people develop vision loss after eye injuries or from birth defects. Although vision that is lost usually cannot be restored, many people can make the most of the vision they have. How a Scene Looks to People With Normal and Low Vision Scene as viewed by a person with normal vision. Scene as viewed by a person with diabetic retinopathy. Scene as viewed by a person with age-related macular degeneration. Scene as viewed by a person with glaucoma. Scene as viewed by a person with cataracts.
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There are no specific treatments to prevent, slow, or reverse HSP. Symptomatic treatments used for spasticity, such as muscle relaxants, are sometimes helpful. Regular physical therapy is important for muscle strength and to preserve range of motion.
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Metabolic syndrome is a group of risk factors that raises your risk for heart disease and other health problems, such as diabetes and stroke. These risk factors can increase your risk for health problems even if they're only moderately raised (borderline-high risk factors). Most of the metabolic risk factors have no signs or symptoms, although a large waistline is a visible sign. Some people may have symptoms of high blood sugar if diabetesespecially type 2 diabetesis present. Symptoms of high blood sugar often include increased thirst; increased urination, especially at night; fatigue (tiredness); and blurred vision. High blood pressure usually has no signs or symptoms. However, some people in the early stages of high blood pressure may have dull headaches, dizzy spells, or more nosebleeds than usual.
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One of the most powerful steps you can take towards creating the life of your dreams is to take total ownership of everything that manifests within it. Your successes, failures, the way others treat you, your health, your happiness, etc. This is called taking personal responsibility.The 3 Essential Tools for Building a Life You Love (Part 1)
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While it's easy to see diabetes as a burden and at times feel angry, ashamed or frustrated, if we look at it through the spirit of thanks-giving, it's also possible to see something gained.Tweets of Diabetes Experience
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What are some of the benefits and risks of laser treatment for port-wine stains associated with Sturge-Weber syndrome? Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain (PWS). Laser treatment of port-wine stains may produce good cosmetic results, with a low incidence of adverse skin changes and other side effects. A major benefit of laser treatment for a PWS is that it can help to minimize psychological problems associated with the social consequences of having a PWS. It has been shown that large facial port-wine stains are associated with an increase in mood and social problems in children older than 10 years of age.Most experts agree that there is little risk associated with the use of PDL in a child with Sturge-Weber syndrome (SWS), provided that anticonvulsant therapy is maintained and that adequate care is taken. The level of pain associated with laser treatment varies. Management of anesthesia should be carefully planned to minimize the potential for secondary effects. Few children with SWS achieve complete clearance of their PWS with laser treatment; PDL does have limitations when large areas or dermatomal patterns are involved.
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CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.
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How I Lost It: After the first 10 days in the hospital, I was put on a chopped food diet, since I couldn't eat much becauseA Hospital Stay Inspired Chris Ponce To Lose 105 Pounds
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Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme. As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. A drug called alglucosidase alfa (Myozyme), has received FDA approval for the treatment of infants and children with Pompe disease. Another algluosidase alfa drug, Lumizyme, has been approved for late-onset (non-infantile) Pompe disease.
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At the population level, epidemic obesity is incontrovertibly established as a clear and all-but-omnipresent danger. It is absurd to suggest otherwise. And it's those who do so -- who play ping-pong with science -- who frighten the hell out of me.Fat, Fear, and the Truly Absurd: The Perils of Ping-Pong Science
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Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection may cause the loss of fingers and facial features. Symptoms of CEP range from mild to severe and may include hypertrichosis, reddish discoloration of the teeth, anemia, and reddish-colored urine. In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms. Treatment for CEP may include activated charcoal or a bone marrow transplant, which can improve the anemia and future blister or scar formations from photosensitivity. Blood transfusions or spleen removal may also reduce the amount of porphyrin produced from bone marrow. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the UROS gene.
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His mother, Jackie Corral, cannot wait for something to work. She prepares and infuses Jackson and his 3-year-old brotherNew Therapy Could Simplify Treatment, Improve Quality Of Life For Hemophilia Patients
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While of course, it is important to eat foods that are nutritious, taste is a key reason why people choose to eat what they do. Pairing good nutrition with great taste creates a win-win situation.7 Fruits and Vegetables to Enjoy During National Nutrition Month
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Parkinson's disease does not affect everyone the same way. Symptoms of the disorder and the rate of progression differ among people with the disease. Sometimes people dismiss early symptoms of Parkinson's as the effects of normal aging. There are no medical tests to definitively diagnose the disease, so it can be difficult to diagnose accurately. Early Symptoms Early symptoms of Parkinson's disease are subtle and occur gradually. For example, affected people may feel mild tremors or have difficulty getting out of a chair. They may notice that they speak too softly or that their handwriting is slow and looks cramped or small. This very early period may last a long time before the more classic and obvious symptoms appear. Friends or family members may be the first to notice changes in someone with early Parkinson's. They may see that the person's face lacks expression and animation, a condition known as "masked face," or that the person does not move an arm or leg normally. They also may notice that the person seems stiff, unsteady, or unusually slow. As the Disease Progresses As the disease progresses, symptoms may begin to interfere with daily activities. The shaking or tremor may make it difficult to hold utensils steady or read a newspaper. Tremor is usually the symptom that causes people to seek medical help. People with Parkinson's often develop a so-called parkinsonian gait that includes a tendency to lean forward, small quick steps as if hurrying forward (called festination), and reduced swinging of the arms. They also may have trouble initiating or continuing movement, which is known as freezing. Symptoms often begin on one side of the body or even in one limb on one side of the body. As the disease progresses, it eventually affects both sides. However, the symptoms may still be more severe on one side than on the other. Four Primary Symptoms The four primary symptoms of Parkinson's are tremor, rigidity, slowness of movement (bradykinesia), and impaired balance (postural instability). - Tremor often begins in a hand, although sometimes a foot or the jaw is affected first. It is most obvious when the hand is at rest or when a person is under stress. It usually disappears during sleep or improves with a deliberate movement. - Rigidity, or a resistance to movement, affects most people with Parkinson's. It becomes obvious when another person tries to move the individual's arm, such as during a neurological examination. The arm will move only in ratchet-like or short, jerky movements known as "cogwheel" rigidity. - Bradykinesia, or the slowing down and loss of spontaneous and automatic movement, is particularly frustrating because it may make simple tasks somewhat difficult. Activities once performed quickly and easily, such as washing or dressing, may take several hours. - Postural instability, or impaired balance, causes people with Parkinson's to fall easily. They also may develop a stooped posture with a bowed head and droopy shoulders. Tremor often begins in a hand, although sometimes a foot or the jaw is affected first. It is most obvious when the hand is at rest or when a person is under stress. It usually disappears during sleep or improves with a deliberate movement. Rigidity, or a resistance to movement, affects most people with Parkinson's. It becomes obvious when another person tries to move the individual's arm, such as during a neurological examination. The arm will move only in ratchet-like or short, jerky movements known as "cogwheel" rigidity. Bradykinesia, or the slowing down and loss of spontaneous and automatic movement, is particularly frustrating because it may make simple tasks somewhat difficult. Activities once performed quickly and easily, such as washing or dressing, may take several hours. Postural instability, or impaired balance, causes people with Parkinson's to fall easily. They also may develop a stooped posture with a bowed head and droopy shoulders. Other Symptoms A number of other symptoms may accompany Parkinson's disease. Some are minor; others are not. Many can be treated with medication or physical therapy. No one can predict which symptoms will affect an individual person, and the intensity of the symptoms varies from person to person. Many people note that prior to experiencing motor problems of stiffness and tremor, they had symptoms of a sleep disorder, constipation, decreased ability to smell, and restless legs. Other symptoms include - depression - emotional changes - difficulty swallowing and chewing - speech changes - urinary problems or constipation - skin problems, sleep problems - dementia or other cognitive problems - orthostatic hypotension (a sudden drop in blood pressure when standing up from a sitting or lying down position) - muscle cramps and dystonia (twisting and repetitive movements) - pain - fatigue and loss of energy - sexual dysfunction. depression emotional changes difficulty swallowing and chewing speech changes urinary problems or constipation skin problems, sleep problems dementia or other cognitive problems orthostatic hypotension (a sudden drop in blood pressure when standing up from a sitting or lying down position) muscle cramps and dystonia (twisting and repetitive movements) pain fatigue and loss of energy sexual dysfunction. A number of disorders can cause symptoms similar to those of Parkinson's disease. People with Parkinson's-like symptoms that result from other causes are sometimes said to have parkinsonism. While these disorders initially may be misdiagnosed as Parkinson's, certain medical tests, as well as response to drug treatment, may help to distinguish them from Parkinson's. Diagnosis Can Be Difficult There are currently no blood, or laboratory tests to diagnose sporadic Parkinson's disease. Diagnosis is based on a person's medical history and a neurological examination, but the disease can be difficult to diagnose accurately. Early signs and symptoms of Parkinson's may sometimes be dismissed as the effects of normal aging. A doctor may need to observe the person for some time until it is clear that the symptoms are consistently present. Improvement after initiating medication is another important hallmark of Parkinson's disease. Doctors may sometimes request brain scans or laboratory tests to rule out other diseases. However, computed tomography (CT) and magnetic resonance imaging (MRI) brain scans of people with Parkinson's usually appear normal. Recently, the FDA (Food and Drug Administration) has approved an imaging technique called DaTscan, which may help to increase accuracy of the diagnosis of Parkinsons disease. Since many other diseases have similar features but require different treatments, it is very important to make an exact diagnosis as soon as possible to ensure proper treatment.
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In many cases, treatment is effective in completely or partially controlling lupus nephritis, resulting in few, if any, further complications. However, even with treatment, 10 to 30 percent of people with lupus nephritis develop kidney failure, described as end-stage renal disease when treated with blood-filtering treatments called dialysis or a kidney transplant.3 Scientists cannot predict who will or will not respond to treatment. The most severe form of lupus nephritis is called diffuse proliferative nephritis. With this type of illness, the kidneys are inflamed, many white blood cells invade the kidneys, and kidney cells increase in number, which can cause such severe damage that scars form in the kidneys. Scars are difficult to treat, and kidney function often declines as more scars form. People with suspected lupus nephritis should get diagnosed and treated as early as possible to prevent such chronic, or long lasting, damage. People with lupus nephritis are at a high risk for cancer, primarily B-cell lymphomaa type of cancer that begins in the cells of the immune system. They are also at a high risk for heart and blood vessel problems.
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16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder. Chromosome testing of both parents can provide more information on whether or not the microdeletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a microdeletion. Treatment is based on the signs and symptoms present in each person. To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders.
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How did these-naturally grown items that have been around forever suddenly become "the thing" at Rozek's store? It began as a pilot program as part of the Pitt County Healthy Corner Stores Initiative, and it's still going strong nearly three years later.You Won't Believe the Must-Have Item Sold at This Convenience Store
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How might neutral lipid storage disease with myopathy be treated? To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. A recent study suggests that people with this condition may benefit from bezafibrate (a medication used to treat high cholesterol) treatment, particularly with respect to lipid accumulation and fat oxidative capacity. Additional studies into this therapy are needed.
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What are the signs and symptoms of Autosomal dominant partial epilepsy with auditory features? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant partial epilepsy with auditory features. 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) Auditory auras - Autosomal dominant inheritance - Bilateral convulsive seizures - Focal seizures with impairment of consciousness or awareness - Focal seizures without impairment of consciousness or awareness - Incomplete penetrance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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The NINDS conducts a wide range of research on headache disorders. This research aims to discover ways to better diagnose, treat, and ultimately, prevent these disorders.
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Lenz microphthalmia syndrome is a very rare condition; its incidence is unknown. It has been identified in only a few families worldwide.
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This certainly isn't the first bad news we've heard about bikini waxes -- over the past few years, several serious infectionsBikini Waxing Dangers: 5 Health Risks To Consider
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Investigations into online inappropriate physician conduct will be up to the state boards. Online behavior from physicians and any other licensed health care professional should mimic their professional life offline. It's imperative that professional ethics is maintained online and offline.Doctors Behaving Badly in Social Networking Sites: What Would Prompt State Boards to Investigate?
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A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull. Chordomas can occur anywhere along the spine. Approximately half of all chordomas occur at the base of the spine; approximately one third occur at the base of the skull. Chordomas grow slowly, extending gradually into the surrounding bone and soft tissue. The actual symptoms depend on the location of the chordoma. A chordoma at the base of the skull may lead to double vision and headaches. A chordoma that occurs at the base of the spine may cause problems with bladder and bowel function. Chordomas typically occur in adults between the ages of 40 and 70. In many cases, the cause of the chordoma remains unknown. Recent studies have shown that changes in the T gene have been associated with chordoma in a small set of families. In these families an inherited duplication of the T gene is associated with an increased risk of developing chordoma. People with this inherited duplication inherit an increased risk for the condition, not the condition itself.
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These resources address the diagnosis or management of tubular aggregate myopathy: - Genetic Testing Registry: Myopathy with tubular aggregates These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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What are the signs and symptoms of Common variable immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Common variable immunodeficiency. 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) Decreased antibody level in blood 90% Lymphopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sinusitis 90% Thrombocytopenia 90% Abnormality of the bronchi 50% Elevated hepatic transaminases 50% Hemolytic anemia 50% Lymphadenopathy 50% Malabsorption 50% Splenomegaly 50% Subcutaneous hemorrhage 50% Arthralgia 7.5% Emphysema 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the stomach 7.5% Restrictive lung disease 7.5% Vasculitis 7.5% Autoimmune neutropenia 5% Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Conjunctivitis - Diarrhea - Hepatomegaly - IgA deficiency - IgG deficiency - IgM deficiency - Immunodeficiency - Impaired T cell function - Recurrent bacterial infections - Recurrent bronchitis - Recurrent otitis media - Recurrent pneumonia - Recurrent sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Let me introduce you to the idiot that was me 11 years ago. I actually said, "Man, that's nothing compared to what I have coming to me." I still cringe when I think of those words today, because when you are going through cancer, the last thing that will ever help you is comparing your situation to others.Cancer Is Relative
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These resources address the diagnosis or management of otopalatodigital syndrome type 2: - Gene Review: Gene Review: Otopalatodigital Spectrum Disorders - Genetic Testing Registry: Oto-palato-digital syndrome, type II These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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What are the genetic testing options for mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS)? Genetic testing for a particular condition is typically available from only a few clinical laboratories because these conditions are rare and the tests are ordered infrequently. It is not uncommon to send DNA samples to a laboratory in another state, or even to laboratories in Canada or Europe. Genetic tests are more complicated than standard blood tests and are usually much more expensive. Due to the high cost of these tests, insurance companies may or may not provide coverage. Doctors sometimes write a letter of medical necessity to the insurance company stating why a particular test is needed, which sometimes pursuades the insurance company to cover the test. These letters state the medical benefits that a person would receive from a test, and how the test would alter a person's medical care. GeneTests lists the names of laboratories that perform genetic testing. This resource lists the contact information for the clinical laboratories conducting genetic testing for MELAS. Another option is to participate in a research study that is performing genetic testing. While the cost of testing is often covered by the research funding, the tests may be more experimental and less accurate. In addition, results may not be reported to participants, or it may take a much longer time to receive any results. To access the contact information for the research laboratory performing genetic testing for mitochondrial disorders (including MELAS), click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
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Mutations in the SLC19A2 gene cause thiamine-responsive megaloblastic anemia syndrome. This gene provides instructions for making a protein called thiamine transporter 1, which transports thiamine into cells. Thiamine is found in many different foods and is important for numerous body functions. Most mutations in the SLC19A2 gene lead to the production of an abnormally short, nonfunctional thiamine transporter 1. Other mutations change single protein building blocks (amino acids) in this protein. All of these mutations prevent thiamine transporter 1 from bringing thiamine into the cell. It remains unclear how the absence of this protein leads to the seemingly unrelated symptoms of megaloblastic anemia, diabetes, and hearing loss. Research suggests that an alternative method for transporting thiamine is present in all the cells of the body, except where blood cells and insulin are formed (in the bone marrow and pancreas, respectively) and cells in the inner ear.
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The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health conduct research related to DLB in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on searching for the genetic roots of DLB, exploring the molecular mechanisms of alpha-synuclein accumulation, and discovering how Lewy bodies cause the particular symptoms of DLB and the other synucleinopathies. The goal of NINDS research is to find better ways to prevent, treat, and ultimately cure disorders such as DLB.
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What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester 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 epiphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the genital system 90% Abnormality of the metaphyses 90% Bone pain 90% Diabetes insipidus 90% Hyperhidrosis 90% Increased bone mineral density 90% Multiple lipomas 90% Osteolysis 90% Osteomyelitis 90% Proptosis 90% Weight loss 90% Abdominal pain 50% Abnormality of the aortic valve 50% Joint swelling 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anemia 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aseptic necrosis 7.5% Congestive heart failure 7.5% Hyperreflexia 7.5% Incoordination 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Ptosis 7.5% Pulmonary fibrosis 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Skin rash 7.5% Visual impairment 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.
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There's nothing like a heaping plate of mac and cheese, a steaming mug of hot chocolate or a crispy grilled cheese sandwichHealthy Comfort Foods: How To Lighten Up 8 Wintertime Favorites
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How is familial isolated hyperparathyroidism diagnosed? The diagnosis of familial isolated hyperparathyroidism (FIHP) is primarily a diagnosis of exclusion. This means that it is diagnosed when no symptoms or genetic features of other forms of familial hyperparathyroidism are present. FIHP may be the only feature of another condition that is not manifesting completely, or it may be a distinct condition due to mutations in genes that have not yet been identified. Clinical exams, laboratory tests, and histological (microscopic) findings are needed before making a diagnosis of FIHP. A diagnosis of FIHP may include the findings of: hypercalcemia (defined as a serum calcium level greater than 10.5 mg/dL) inappropriately high parathyroid hormone (PTH) concentrations parathyroid adenomas exclusion of multiple endocrine neoplasia type 1 (MEN 1) and hyperparathyroidism-jaw tumor syndrome (HPT-JT) In the majority of people with FIHP, genetic mutations are not found. However, in some people, mutations in the MEN1, CASR, and CDC73 (HRPT2) genes have been reported. At this time, no gene has been associated exclusively with FIHP.
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These resources address the diagnosis or management of familial dysautonomia: - Gene Review: Gene Review: Familial Dysautonomia - Genetic Testing Registry: Familial dysautonomia - MedlinePlus Encyclopedia: Riley-Day Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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Age and gender can affect the risk of extragonadal germ cell tumors. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for malignant extragonadal germ cell tumors include the following: - Being male. - Being age 20 or older. - Having Klinefelter syndrome.
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New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
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"These compounds in some cells could actually promote the development of cancers or malignancies," Dr. Rey Panettieri, whoSpray Tan Risks: Dihydroxyacetone Chemical Could Damage DNA, ABC News Finds
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bodybuilding, Bodybuilding Products for Bodybuilders
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When I received confirmation that I had been accepted into the "Essential Dharma Retreat," I wanted to throw up, which was a sign that I was off to the right start.Signing Up to Face My Fear: Seven Days of Silence
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Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected. People with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss. Abnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia. Many other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.
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The world we live in can be a harsh, cruel, and unforgiving place. Drug dealers aren't going to practice restraint because your child is underaged or innocent. But we can unite as a community and do what we can to not provide such a target-rich environment.More Than a Feeling: How to Tell if Your Child Has a Problem With Addiction
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What are the signs and symptoms of Weyers ulnar ray/oligodactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers ulnar ray/oligodactyly 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) Absent thumb - Aplasia/Hypoplasia of the ulna - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - High palate - Hydronephrosis - Hypoplasia of the radius - Hypotelorism - Long face - Mesomelia - Narrow face - Oligodactyly (hands) - Proximal placement of thumb - Proximal radial head dislocation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline. Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability. There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type. Life expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.
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Lack of a Vaccine Mandate Becomes Competitive Advantage in Hospital Staffing Wars
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Hantavirus pulmonary syndrome (HPS) is a severe, respiratory disease caused by infection with a hantavirus. People can become infected with a hantavirus through contact with hantavirus-infected rodents or their saliva, urine and/or droppings. Early symptoms universally include fatigue, fever and muscle aches (especially in the thighs, hips, and/or back), and sometimes include headaches, dizziness, chills, and abdominal problems such as nausea, vomiting, diarrhea, and pain. Later symptoms of the syndrome occur 4 to 10 days after initial onset and include coughing and shortness of breath. HPS can be fatal; approximately 38% of individuals with HPS do not survive. There is no cure or specific treatment for HPS, but early diagnosis and treatment in intensive care may increase the chance of recovery.
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How is intrahepatic cholestasis of pregnancy diagnosed? Intrahepatic cholestasis of pregnancy (ICP) is suspected during pregnancy when symptoms of itching (pruritis) present after 25 weeks of gestation with absence of a rash or underlying maternal liver disease. The diagnosis is typically confirmed with the finding of elevated serum bile acids. Is genetic testing available for intrahepatic cholestasis of pregnancy? In the presence of a family history of intrahepatic cholestasis of pregnancy (ICP) and/or known mutations in either the ABCB11 or ABCB4 genes, genetic testing is available. The Genetic Testing Registry (GTR), a resource from the National Center for Biotechnology, offers a listing of laboratories that perform genetic testing for intrahepatic cholestasis of pregnancy. For more information, click on the link.
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What are the signs and symptoms of Mutiple parosteal osteochondromatous proliferations? The Human Phenotype Ontology provides the following list of signs and symptoms for Mutiple parosteal osteochondromatous proliferations. 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 wrist 90% Multiple enchondromatosis 90% Tarsal synostosis 90% Autosomal dominant inheritance - Joint swelling - Osteochondroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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My father does not want to die and I understand that. That said, I have watched as over the past three years the quality of his life has been steadily reduce to something approaching zero.Facing Frailty at End of Life
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MEN1 is an inherited disorder that causes tumors in the endocrine glands and the duodenum, the first part of the small intestine. MEN1 is sometimes called multiple endocrine adenomatosis or Wermer's syndrome, after one of the first doctors to recognize it. MEN1 is rare, occurring in about one in 30,000 people.1 The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences. Endocrine glands release hormones into the bloodstream. Hormones are powerful chemicals that travel through the blood, controlling and instructing the functions of various organs. Normally, the hormones released by endocrine glands are carefully balanced to meet the body's needs. In people with MEN1, multiple endocrine glands form tumors and become hormonally overactive, often at the same time. The overactive glands may include the parathyroids, pancreas, or pituitary. Most people who develop overactivity of only one endocrine gland do not have MEN1.
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Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmental delay and progressive lipodystrophy. CANDLE syndrome is often caused by changes (mutations) in the PSMB8 gene and is inherited in an autosomal recessive manner. In some cases, the underlying genetic cause is unknown. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.
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Key Points - There are different types of treatment for patients with paranasal sinus and nasal cavity cancer. - Patients with paranasal sinus and nasal cavity cancer should have their treatment planned by a team of doctors with expertise in treating head and neck cancer. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. There are different types of treatment for patients with paranasal sinus and nasal cavity cancer. Different types of treatment are available for patients with paranasal sinus and nasal cavity cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. Patients with paranasal sinus and nasal cavity cancer should have their treatment planned by a team of doctors with expertise in treating head and neck cancer. Treatment will be overseen by a medical oncologist, a doctor who specializes in treating people with cancer. The medical oncologist works with other doctors who are experts in treating patients with head and neck cancer and who specialize in certain areas of medicine and rehabilitation. Patients who have paranasal sinus and nasal cavity cancer may need special help adjusting to breathing problems or other side effects of the cancer and its treatment. If a large amount of tissue or bone around the paranasal sinuses or nasal cavity is taken out, plastic surgery may be done to repair or rebuild the area. The treatment team may include the following specialists: - Radiation oncologist. - Neurologist. - Oral surgeon or head and neck surgeon. - Plastic surgeon. - Dentist. - Nutritionist. - Speech and language pathologist. - Rehabilitation specialist. Three types of standard treatment are used: Surgery Surgery (removing the cancer in an operation) is a common treatment for all stages of paranasal sinus and nasal cavity cancer. A doctor may remove the cancer and some of the healthy tissue and bone around the cancer. If the cancer has spread, the doctor may remove lymph nodes and other tissues in the neck. Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy or radiation therapy after surgery to kill any cancer cells that are left. Treatment given after surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. The total dose of radiation therapy is sometimes divided into several smaller, equal doses delivered over a period of several days. This is called fractionation. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat paranasal sinus and nasal cavity cancer. External radiation therapy to the thyroid or the pituitary gland may change the way the thyroid gland works. The thyroid hormone levels in the blood may be tested before and after treatment. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment using more than one anticancer drug. The way the chemotherapy is given depends on the type and stage of the cancer being treated. See Drugs Approved for Head and Neck Cancer for more information. (Paranasal sinus and nasal cavity cancer is a type of head and neck cancer.) New types of treatment are being tested in clinical trials. Information about clinical trials is available from the NCI website. Patients may want to think about taking part in a clinical trial. For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. Patients can enter clinical trials before, during, or after starting their cancer treatment. Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. Follow-up tests may be needed. Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. Treatment Options by Stage Stage I Paranasal Sinus and Nasal Cavity Cancer Treatment of stage I paranasal sinus and nasal cavity cancer depends on where cancer is found in the paranasal sinuses and nasal cavity: - If cancer is in the maxillary sinus, treatment is usually surgery with or without radiation therapy. - If cancer is in the ethmoid sinus, treatment is usually radiation therapy and/or surgery. - If cancer is in the sphenoid sinus, treatment is the same as for nasopharyngeal cancer, usually radiation therapy. (See the PDQ summary on Nasopharyngeal Cancer Treatment for more information.) - If cancer is in the nasal cavity, treatment is usually surgery and/or radiation therapy. - If cancer is in the nasal vestibule, treatment is usually surgery or radiation therapy. - For inverting papilloma, treatment is usually surgery with or without radiation therapy. - For melanoma and sarcoma, treatment is usually surgery with or without radiation therapy and chemotherapy. - For midline granuloma, treatment is usually radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I paranasal sinus and nasal cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Stage II Paranasal Sinus and Nasal Cavity Cancer Treatment of stage II paranasal sinus and nasal cavity cancer depends on where cancer is found in the paranasal sinuses and nasal cavity: - If cancer is in the maxillary sinus, treatment is usually high-dose radiation therapy before or after surgery. - If cancer is in the ethmoid sinus, treatment is usually radiation therapy and/or surgery. - If cancer is in the sphenoid sinus, treatment is the same as for nasopharyngeal cancer, usually radiation therapy with or without chemotherapy. (See the PDQ summary on Nasopharyngeal Cancer Treatment for more information.) - If cancer is in the nasal cavity, treatment is usually surgery and/or radiation therapy. - If cancer is in the nasal vestibule, treatment is usually surgery or radiation therapy. - For inverting papilloma, treatment is usually surgery with or without radiation therapy. - For melanoma and sarcoma, treatment is usually surgery with or without radiation therapy and chemotherapy. - For midline granuloma, treatment is usually radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II paranasal sinus and nasal cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Stage III Paranasal Sinus and Nasal Cavity Cancer Treatment of stage III paranasal sinus and nasal cavity cancer depends on where cancer is found in the paranasal sinuses and nasal cavity. If cancer is in the maxillary sinus, treatment may include the following: - High-dose radiation therapy before or after surgery. - A clinical trial of fractionated radiation therapy before or after surgery. If cancer is in the ethmoid sinus, treatment may include the following: - Surgery followed by radiation therapy. - A clinical trial of combination chemotherapy before surgery or radiation therapy. - A clinical trial of combination chemotherapy after surgery or other cancer treatment. If cancer is in the sphenoid sinus, treatment is the same as for nasopharyngeal cancer, usually radiation therapy with or without chemotherapy. (See the PDQ summary on Nasopharyngeal Cancer Treatment for more information.) If cancer is in the nasal cavity, treatment may include the following: - Surgery and/or radiation therapy. - Chemotherapy and radiation therapy. - A clinical trial of combination chemotherapy before surgery or radiation therapy. - A clinical trial of combination chemotherapy after surgery or other cancer treatment. For inverting papilloma, treatment is usually surgery with or without radiation therapy. For melanoma and sarcoma, treatment may include the following: - Surgery. - Radiation therapy. - Surgery, radiation therapy, and chemotherapy. For midline granuloma, treatment is usually radiation therapy. If cancer is in the nasal vestibule, treatment may include the following: - External radiation therapy and/or internal radiation therapy with or without surgery. - A clinical trial of combination chemotherapy before surgery or radiation therapy. - A clinical trial of combination chemotherapy after surgery or other cancer treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage III paranasal sinus and nasal cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. Stage IV Paranasal Sinus and Nasal Cavity Cancer Treatment of stage IV paranasal sinus and nasal cavity cancer depends on where cancer is found in the paranasal sinuses and nasal cavity. If cancer is in the maxillary sinus, treatment may include the following: - High-dose radiation therapy with or without surgery. - A clinical trial of fractionated radiation therapy. - A clinical trial of chemotherapy before surgery or radiation therapy. - A clinical trial of chemotherapy after surgery or other cancer treatment. - A clinical trial of chemotherapy and radiation therapy. If cancer is in the ethmoid sinus, treatment may include the following: - Radiation therapy before or after surgery. - Chemotherapy and radiation therapy. - A clinical trial of chemotherapy before surgery or radiation therapy. - A clinical trial of chemotherapy after surgery or other cancer treatment. - A clinical trial of chemotherapy and radiation therapy. If cancer is in the sphenoid sinus, treatment is the same as for nasopharyngeal cancer, usually radiation therapy with or without chemotherapy. (See the PDQ summary on Nasopharyngeal Cancer Treatment for more information.) If cancer is in the nasal cavity, treatment may include the following: - Surgery and/or radiation therapy. - Chemotherapy and radiation therapy. - A clinical trial of chemotherapy before surgery or radiation therapy. - A clinical trial of chemotherapy after surgery or other cancer treatment. - A clinical trial of chemotherapy and radiation therapy. For inverting papilloma, treatment is usually surgery with or without radiation therapy. For melanoma and sarcoma, treatment may include the following: - Surgery. - Radiation therapy. - Chemotherapy. For midline granuloma, treatment is usually radiation therapy. If cancer is in the nasal vestibule, treatment may include the following: - External radiation therapy and/or internal radiation therapy with or without surgery. - A clinical trial of chemotherapy before surgery or radiation therapy. - A clinical trial of chemotherapy after surgery or other cancer treatment. - A clinical trial of chemotherapy and radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV paranasal sinus and nasal cavity cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
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Ethnic background and being exposed to the Epstein-Barr virus can affect the risk of nasopharyngeal cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for nasopharyngeal cancer include the following: - Having Chinese or Asian ancestry. - Being exposed to the Epstein-Barr virus: The Epstein-Barr virus has been associated with certain cancers, including nasopharyngeal cancer and some lymphomas. - Drinking large amounts of alcohol.
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Aminoacylase 1 deficiency is caused by mutations in the ACY1 gene. This gene provides instructions for making an enzyme called aminoacylase 1, which is involved in the breakdown of proteins when they are no longer needed. Many proteins in the body have an acetyl group attached to one end. This modification, called N-acetylation, helps protect and stabilize the protein. Aminoacylase 1 performs the final step in the breakdown of these proteins by removing the acetyl group from certain amino acids. The amino acids can then be recycled and used to build other proteins. Mutations in the ACY1 gene lead to an aminoacylase 1 enzyme with little or no function. Without this enzyme's function, acetyl groups are not efficiently removed from a subset of amino acids during the breakdown of proteins. The excess N-acetylated amino acids are released from the body in urine. It is not known how a reduction of aminoacylase 1 function leads to neurological problems in people with aminoacylase 1 deficiency.
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The path to vibrant health and wellness begins by creating a right relationship with your mind and your body.Food: Just a Little Wisdom to Chew On
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Spastic paraplegia type 4 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the lower limbs, whereas the complex types also involve the upper limbs (to a lesser degree) and the nervous system. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. Spastic paraplegia type 4 generally affects nerve and muscle function in the lower half of the body only.
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These resources address the diagnosis or management of Amish lethal microcephaly: - Gene Review: Gene Review: Amish Lethal Microcephaly - Genetic Testing Registry: Amish lethal microcephaly - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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Tests that examine the breasts are used to detect (find) and diagnose breast cancer. Check with your doctor if you notice any changes in your breasts. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Clinical breast exam (CBE): An exam of the breast by a doctor or other health professional. The doctor will carefully feel the breasts and under the arms for lumps or anything else that seems unusual. - Mammogram: An x-ray of the breast. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of both breasts. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. If a lump in the breast is found, a biopsy may be done. There are four types of biopsy used to check for breast cancer: - Excisional biopsy : The removal of an entire lump of tissue. - Incisional biopsy : The removal of part of a lump or a sample of tissue. - Core biopsy : The removal of tissue using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid, using a thin needle. If cancer is found, tests are done to study the cancer cells. Decisions about the best treatment are based on the results of these tests. The tests give information about: - how quickly the cancer may grow. - how likely it is that the cancer will spread through the body. - how well certain treatments might work. - how likely the cancer is to recur (come back). Tests include the following: - Estrogen and progesterone receptor test : A test to measure the amount of estrogen and progesterone (hormones) receptors in cancer tissue. If there are more estrogen and progesterone receptors than normal, the cancer is called estrogen and/or progesterone receptor positive. This type of breast cancer may grow more quickly. The test results show whether treatment to block estrogen and progesterone may stop the cancer from growing. - Human epidermal growth factor type 2 receptor (HER2/neu) test : A laboratory test to measure how many HER2/neu genes there are and how much HER2/neu protein is made in a sample of tissue. If there are more HER2/neu genes or higher levels of HER2/neu protein than normal, the cancer is called HER2/neu positive. This type of breast cancer may grow more quickly and is more likely to spread to other parts of the body. The cancer may be treated with drugs that target the HER2/neu protein, such as trastuzumab and pertuzumab. - Multigene tests: Tests in which samples of tissue are studied to look at the activity of many genes at the same time. These tests may help predict whether cancer will spread to other parts of the body or recur (come back). There are many types of multigene tests. The following multigene tests have been studied in clinical trials: - Oncotype DX : This test helps predict whether stage I or stage II breast cancer that is estrogen receptor positive and node negative will spread to other parts of the body. If the risk that the cancer will spread is high, chemotherapy may be given to lower the risk. - MammaPrint : This test helps predict whether stage I or stage II breast cancer that is node negative will spread to other parts of the body. If the risk that the cancer will spread is high, chemotherapy may be given to lower the risk. Based on these tests, breast cancer is described as one of the following types: - Hormone receptor positive (estrogen and/or progesterone receptor positive) or hormone receptor negative (estrogen and/or progesterone receptor negative). - HER2/neu positive or HER2/neu negative. - Triple negative (estrogen receptor, progesterone receptor, and HER2/neu negative). This information helps the doctor decide which treatments will work best for your cancer.
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Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever. Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily.
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What are the signs and symptoms of Opitz G/BBB syndrome? Opitz G/BBB syndrome mainly affects structures along the midline of the body. The most common features of the condition are wide-spaced eyes (hypertelorism); defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing (dysphagia); and in males, the urethra opening on the underside of the penis (hypospadias). Mild intellectual disability and developmental delay occur in about 50 percent of people with Opitz G/BBB syndrome. Delays in motor skills, speech delays, and learning difficulties may also occur. Some individuals with Opitz G/BBB syndrome have features similar to autistic spectrum disorders, including impaired communication and socialization skills. About half of affected individuals also have cleft lip with or without a cleft palate. Some have cleft palate alone. Heart defects, an obstruction of the anal opening (imperforate anus), and brain defects such as an absence of the tissue connecting the left and right halves of the brain (agenesis of the corpus callosum) occur in less than 50 percent of those affected. Facial abnormalities that may be seen in this disorder can include a flat nasal bridge, thin upper lip, and low set ears. These features vary among affected individuals, even within the same family. The signs and symptoms of the autosomal dominant form of the condition are comparable to those seen in the X-linked form. However, the X-linked form of Opitz G/BBB syndrome tends to include cleft lip with or without cleft palate, while cleft palate alone is more common in the autosomal dominant form. Females with X-linked Opitz G/BBB syndrome are usually mildly affected, as hypertelorism may be the only sign of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Opitz G/BBB 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 pharynx 90% Anteverted nares 90% Displacement of the external urethral meatus 90% Epicanthus 90% Abnormality of the voice 50% Cognitive impairment 50% Respiratory insufficiency 50% Increased number of teeth 7.5% Low-set, posteriorly rotated ears 7.5% Pectus carinatum 7.5% Pectus excavatum 7.5% Prominent metopic ridge 7.5% Reduced number of teeth 7.5% Sensorineural hearing impairment 7.5% Craniosynostosis 5% Abnormality of cardiovascular system morphology - Abnormality of the kidney - Abnormality of the nasopharynx - Abnormality of the ureter - Absent gallbladder - Agenesis of corpus callosum - Anal atresia - Anal stenosis - Aplasia/Hypoplasia of the cerebellar vermis - Aspiration - Atria septal defect - Autosomal dominant inheritance - Bifid scrotum - Bifid uvula - Cavum septum pellucidum - Cerebellar vermis hypoplasia - Cerebral cortical atrophy - Cleft palate - Cleft upper lip - Coarctation of aorta - Conductive hearing impairment - Cranial asymmetry - Cryptorchidism - Depressed nasal bridge - Diastasis recti - Dysphagia - Frontal bossing - Gastroesophageal reflux - Hiatus hernia - High palate - Hypertelorism - Hypospadias - Inguinal hernia - Intellectual disability - Laryngeal cleft - Muscular hypotonia - Patent ductus arteriosus - Posterior pharyngeal cleft - Posteriorly rotated ears - Prominent forehead - Pulmonary hypertension - Pulmonary hypoplasia - Short lingual frenulum - Smooth philtrum - Strabismus - Telecanthus - Tracheoesophageal fistula - Umbilical hernia - Ventricular septal defect - Ventriculomegaly - Weak cry - Wide nasal bridge - Widow's peak - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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Having certain syndromes can increase the risk of pancreatic NETs. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Multiple endocrine neoplasia type 1 (MEN1) syndrome is a risk factor for pancreatic NETs.
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Recent research has shown that exercise actually changes the way our brain responds to the very idea of food.New Science Behind Kicking Those Stubborn Food Cravings
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Scientists do not fully understand the cause of medullary sponge kidney or why cysts form in the tubules during fetal development. Even though medullary sponge kidney is present at birth, most cases do not appear to be inherited.
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क्यो Allopath डॉक्टर ने किडनी के इलाज के लिए आयुर्वेदिक डॉक्टर पर विश्वा...
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Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms. The fatal perinatal neuromuscular type is the most severe form of GSD IV, with signs developing before birth. Excess fluid may build up around the fetus (polyhydramnios) and in the fetus' body. Affected fetuses have a condition called fetal akinesia deformation sequence, which causes a decrease in fetal movement and can lead to joint stiffness (arthrogryposis) after birth. Infants with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy). These infants usually do not survive past the newborn period due to weakened heart and breathing muscles. The congenital muscular type of GSD IV is usually not evident before birth but develops in early infancy. Affected infants have severe hypotonia, which affects the muscles needed for breathing. These babies often have dilated cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Infants with the congenital muscular type of GSD IV typically survive only a few months. The progressive hepatic type is the most common form of GSD IV. Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate (failure to thrive) and develop an enlarged liver (hepatomegaly). Children with this type develop a form of liver disease called cirrhosis that often is irreversible. High blood pressure in the vein that supplies blood to the liver (portal hypertension) and an abnormal buildup of fluid in the abdominal cavity (ascites) can also occur. By age 1 or 2, affected children develop hypotonia. Children with the progressive hepatic type of GSD IV often die of liver failure in early childhood. The non-progressive hepatic type of GSD IV has many of the same features as the progressive hepatic type, but the liver disease is not as severe. In the non-progressive hepatic type, hepatomegaly and liver disease are usually evident in early childhood, but affected individuals typically do not develop cirrhosis. People with this type of the disorder can also have hypotonia and muscle weakness (myopathy). Most individuals with this type survive into adulthood, although life expectancy varies depending on the severity of the signs and symptoms. The childhood neuromuscular type of GSD IV develops in late childhood and is characterized by myopathy and dilated cardiomyopathy. The severity of this type of GSD IV varies greatly; some people have only mild muscle weakness while others have severe cardiomyopathy and die in early adulthood.
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Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people worldwide. This condition accounts for 1 percent to 5 percent of all cases of abnormal eye alignment (strabismus). For unknown reasons, isolated Duane syndrome affects females more often than males.
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One hotel chain is making that excuse obsolete. What do you think? Would hotel offerings like this motivate you to keep upWestin Hotels And New Balance Debut Gear-Lending Program Where Guests Can Rent Sneakers, Workout Clothes
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Based on your diagnosis, health care providers develop treatment plans for high blood pressure that include lifelong lifestyle changes and medicines to control high blood pressure; lifestyle changes such as weight loss can be highly effective in treating high blood pressure. Treatment Plans Health care providers work with you to develop a treatment plan based on whether you were diagnosed with primary or secondary high blood pressure and if there is a suspected or known cause. Treatment plans may evolve until blood pressure control is achieved. If your health care provider diagnoses you with secondary high blood pressure, he or she will work to treat the other condition or change the medicine suspected of causing your high blood pressure. If high blood pressure persists or is first diagnosed as primary high blood pressure, your treatment plan will include lifestyle changes. When lifestyle changes alone do not control or lower blood pressure, your health care provider may change or update your treatment plan by prescribing medicines to treat the disease. Health care providers prescribe children and teens medicines at special doses that are safe and effective in children. If your health care provider prescribes medicines as a part of your treatment plan, keep up your healthy lifestyle habits. The combination of the medicines and the healthy lifestyle habits helps control and lower your high blood pressure. Some people develop resistant or uncontrolled high blood pressure. This can happen when the medications they are taking do not work well for them or another medical condition is leading to uncontrolled blood pressure. Health care providers treat resistant or uncontrolled high blood pressure with an intensive treatment plan that can include a different set of blood pressure medications or other special treatments. To achieve the best control of your blood pressure, follow your treatment plan and take all medications as prescribed. Following your prescribed treatment plan is important because it can prevent or delay complications that high blood pressure can cause and can lower your risk for other related problems. Healthy Lifestyle Changes Healthy lifestyle habits can help you control high blood pressure. These habits include: Healthy eating Being physically active Maintaining a healthy weight Limiting alcohol intake Managing and coping with stress To help make lifelong lifestyle changes, try making one healthy lifestyle change at a time and add another change when you feel that you have successfully adopted the earlier changes. When you practice several healthy lifestyle habits, you are more likely to lower your blood pressure and maintain normal blood pressure readings. Healthy Eating To help treat high blood pressure, health care providers recommend that you limit sodium and salt intake, increase potassium, and eat foods that are heart healthy. Limiting Sodium and Salt A low-sodium diet can help you manage your blood pressure. You should try to limit the amount of sodium that you eat. This means choosing and preparing foods that are lower in salt and sodium. Try to use low-sodium and no added salt foods and seasonings at the table or while cooking. Food labels tell you what you need to know about choosing foods that are lower in sodium. Try to eat no more than 2,300 mg sodium a day. If you have high blood pressure, you may need to restrict your sodium intake even more. Your health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan if you have high blood pressure. The DASH eating plan focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and low in fat, cholesterol, and salt. The DASH eating plan is a good heart-healthy eating plan, even for those who dont have high blood pressure. Read more about the DASH eating plan. Heart-Healthy Eating Your health care provider also may recommend heart-healthy eating, which should include: Whole grains Fruits, such as apples, bananas, oranges, pears, and prunes Vegetables, such as broccoli, cabbage, and carrots Legumes, such as kidney beans, lentils, chick peas, black-eyed peas, and lima beans Fat-free or low-fat dairy products, such as skim milk Fish high in omega-3 fatty acids, such as salmon, tuna, and trout, about twice a week When following a heart-healthy diet, you should avoid eating: A lot of red meat Palm and coconut oils Sugary foods and beverages In the National Heart, Lung, and Blood Institute (NHLBI)-sponsored Hispanic Community Health Study/Study of Latinos, which studied Hispanics living in the United States, Cubans ate more sodium and Mexicans ate less sodium than other Hispanic groups in the study. All Hispanic Americans should follow these healthy eating recommendations even when cooking traditional Latino dishes. Try some of these popular Hispanic American heart-healthy recipes. Being Physically Active Routine physical activity can lower high blood pressure and reduce your risk for other health problems. Talk with your health care provider before you start a new exercise plan. Ask him or her how much and what kinds of physical activity are safe for you. Everyone should try to participate in moderate-intensity aerobic exercise at least 2 hours and 30minutes per week, or vigorous-intensity aerobic exercise for 1 hour and 15 minutes per week. Aerobic exercise, such as brisk walking, is any exercise in which your heart beats harder and you use more oxygen than usual. The more active you are, the more you will benefit. Participate in aerobic exercise for at least 10 minutes at a time, spread throughout the week. Read more about physical activity: Physical Activity and Your Heart U.S. Department of Health and Human Services'2008 Physical Activity Guidelines for Americans Maintaining a Healthy Weight Maintaining a healthy weight can help you control high blood pressure and reduce your risk for other health problems. If youre overweight or obese, try to lose weight. A loss of just 3 to 5 percent can lower your risk for health problems. Greater amounts of weight loss can improve blood pressure readings, lowerLDL cholesterol, and increase HDL cholesterol. However, research shows that no matter your weight, it is important to control high blood pressure to maintain good health. A useful measure of overweight and obesity is body mass index (BMI). BMI measures your weight in relation to your height. To figure out your BMI, check out NHLBIs online BMI calculator or talk to yourhealth care provider. A BMI: Below 18.5 is a sign that you are underweight. Between 18.5 and 24.9 is in the healthy range. Between 25 and 29.9 is considered overweight. Of 30 or more is considered obese. A general goal to aim for is a BMI below 25. Your health care provider can help you set an appropriate BMI goal. Measuring waist circumference helps screen for possible health risks. If most of your fat is around your waist rather than at your hips, youre at a higher risk for heart disease and type 2 diabetes. This risk may be high with a waist size that is greater than 35 inches for women or greater than 40 inches for men. To learn how to measure your waist, visit Assessing Your Weight and Health Risk. For more information about losing weight or maintaining your weight, go to Aim for a Healthy Weight. Limiting Alcohol Intake Limit alcohol intake. Too much alcohol will raise your blood pressure and triglyceride levels, a type of fat found in the blood. Alcohol also adds extra calories, which may cause weight gain. Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day. One drink is: 12 ounces of beer 5 ounces of wine 1 ounces of liquor Managing and Coping With Stress Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health and can lower high blood pressure. Stress management techniques include: Being physically active Listening to music or focusing on something calm or peaceful Performing yoga or tai chi Meditating Medicines Blood pressure medicines work in different ways to stop or slow some of the bodys functions that cause high blood pressure. Medicines to lower blood pressure include: Diuretics (Water or Fluid Pills): Flush excess sodium from your body, which reduces the amount of fluid in your blood and helps to lower your blood pressure. Diuretics are often used with other high blood pressure medicines, sometimes in one combined pill. Beta Blockers: Help your heart beat slower and with less force. As a result, your heart pumps less blood through your blood vessels, which can help to lower your blood pressure. Angiotensin-Converting Enzyme (ACE) Inhibitors: Angiotensin-II is a hormone that narrows blood vessels, increasing blood pressure. ACE converts Angiotensin I to Angiotensin II. ACE inhibitors block this process, which stops the production of Angiotensin II, lowering blood pressure. Angiotensin II Receptor Blockers (ARBs): Block angiotensin II hormone from binding with receptors in the blood vessels. When angiotensin II is blocked, the blood vessels do not constrict or narrow, which can lower your blood pressure. Calcium Channel Blockers: Keep calcium from entering the muscle cells of your heart and blood vessels. This allows blood vessels to relax, which can lower your blood pressure. Alpha Blockers: Reduce nerve impulses that tighten blood vessels. This allows blood to flow more freely, causing blood pressure to go down. Alpha-Beta Blockers: Reduce nerve impulses the same way alpha blockers do. However, like beta blockers, they also slow the heartbeat. As a result, blood pressure goes down. Central Acting Agents: Act in the brain to decrease nerve signals that narrow blood vessels, which can lower blood pressure. Vasodilators: Relax the muscles in blood vessel walls, which can lower blood pressure. To lower and control blood pressure, many people take two or more medicines. If you have side effects from your medicines, dont stop taking your medicines. Instead, talk with your health care provider about the side effects to see if the dose can be changed or a new medicine prescribed. Future Treatments Scientists, doctors, and researchers continue to study the changes that cause high blood pressure, to develop new medicines and treatments to control high blood pressure. Possible future treatments under investigation include new combination medicines, vaccines, and interventions aimed at the sympathetic nervous system, such as kidney nerve ablation.
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Summary : Islets are cells found in clusters throughout the pancreas. They are made up of several types of cells. One of these is beta cells, which make insulin. Insulin is a hormone that helps the body use glucose for energy. Islet cell transplantation transfers cells from an organ donor into the body of another person. It is an experimental treatment for type 1 diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin. A person who has type 1 diabetes must take insulin daily to live. Transplanted islet cells, however, can take over the work of the destroyed cells. The beta cells in these islets will begin to make and release insulin. Researchers hope islet transplantation will help people with type 1 diabetes live without daily insulin injections. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
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However, the study's authors note, it's important to distinguish between avoidance and escapism. What's effective about avoidanceFeeling Stressed? 'Taking Your Mind Off It' Might Do The Trick, Study Finds
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LBSL is a rare condition. Its exact prevalence is not known.
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You can watch the full conversation above -- or read on for some highlights. Since the age window with the highest rate ofDr. Oz And Diane Harper On HPV Vaccines And Knowing The Research
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Summary : There are many reasons to have surgery. Some operations can relieve or prevent pain. Others can reduce a symptom of a problem or improve some body function. Some surgeries are done to find a problem. For example, a surgeon may do a biopsy, which involves removing a piece of tissue to examine under a microscope. Some surgeries, like heart surgery, can save your life. Some operations that once needed large incisions (cuts in the body) can now be done using much smaller cuts. This is called laparoscopic surgery. Surgeons insert a thin tube with a camera to see, and use small tools to do the surgery. After surgery there can be a risk of complications, including infection, too much bleeding, reaction to anesthesia, or accidental injury. There is almost always some pain with surgery. Agency for Healthcare Research and Quality
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Just because our brains have been altered by addiction, doesn't mean we're destined to fall into the same habits. With the right skills, community and support we can learn how to break out of routine and into a life worth living.The Neuroscience of Bad Habits: Dr. Nora Volkow
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For people who are worried that they have a high risk of diabetes, the best steps to take are lifestyle modifications, DrabResearchers Question Vitamin D's Link To Diabetes
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These diseases have been known primarily as "pooping diseases" because many patients frequent the bathroom as a result of the cramping and abdominal pain caused by IBD. However, there are many aspects of the disease that are far worse than spending time in the bathroom.Not Just a Pooping Disease: 10 Things You Didn't Know About Inflammatory Bowel Disease
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These resources address the diagnosis or management of heterotaxy syndrome: - Boston Children's Hospital: Tests for Heterotaxy Syndrome - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Genetic Testing Registry: Atrioventricular septal defect, partial, with heterotaxy syndrome - Genetic Testing Registry: Heterotaxy syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 million people worldwide. Between 300 and 500 people with the condition have been described in the medical literature. Although this condition has been reported in populations around the world, it appears to be more common in certain regions of Lebanon and Brazil.
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"Twenty-four grams of protein is more than some people have in a meal," Elizabeth M. Ward, RD, tells The Huffington Post8 High-Protein, Nutritionist-Approved Snacks To Keep You Full
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Supportive therapy is important in CHHF. This includes: - maintenance of hydration - management of shock - sedation - pain relief - usual precautions for patients with bleeding disorders - transfusions (when necessary) Use of convalescent plasma therapy for treatment of AHF reduces mortality significantly and anecdotal evidence shows that the antiviral drug ribavirin may also hold promise for treating AHF. Ribavirin has also been considered for preventing development of disease in people exposed to other arenaviruses. Recovery The precise mortality of CHHF is unknown and the only described case was fatal. Patients who have suffered from other arenaviruses may continue to excrete virus in urine or semen for weeks after recovery. For this reason, these fluids should be monitored for infectivity, since convalescent patients have the potential to infect others (particularly sexual partners) via these fluids.
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It will take a diverse population's full participation in well-designed studies to provide women with a better answer to the question, "What should I do?" Until then, we should err on the side of early detection and early treatment.Unforgiveable: Missed Opportunity to Save a Life
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What are the signs and symptoms of Orofaciodigital syndrome 2? Although the signs and symptoms that occur in people with orofaciodigital syndrome type 2 may vary, the following findings may be present:Facial findings Nodules (bumps) of the tongue Cleft lip Thick frenula (a strong cord of tissue that is visible and easily felt if you look in the mirror under your tongue and under your lips) Dystopia canthorum (an unusually wide nasal bridge resulting in widely spaced eyes) Finger and toe findings Clinobrachydactyly (narrow, short fingers and toes) Syndactyly (fused fingers and toes) Polydactyly (presence of more than five fingers on hands and/or five toes on feet) Y-shaped central metacarpal (bone that connects the fingers to the hands) Other possible findings Conductive hearing loss Central nervous system impairments (porencephaly and hydrocephaly) Heart defects (atrioventricular canal [endocardial cushion] defects) The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 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) Bifid tongue 90% Brachydactyly syndrome 90% Conductive hearing impairment 90% Finger syndactyly 90% Postaxial hand polydactyly 90% Short stature 90% Telecanthus 90% Wide nasal bridge 90% Clinodactyly of the 5th finger 75% Preaxial foot polydactyly 75% Abnormality of the metaphyses 50% Accessory oral frenulum 50% Bifid nasal tip 50% Broad nasal tip 50% Depressed nasal bridge 50% Flared metaphysis 50% Hypoplasia of the maxilla 50% Lobulated tongue 50% Malar flattening 50% Median cleft lip 50% Metaphyseal irregularity 50% Midline defect of the nose 50% Reduced number of teeth 50% Tongue nodules 50% Postaxial foot polydactyly 33% Preaxial hand polydactyly 33% Abnormality of the cranial nerves 7.5% Abnormality of the genital system 7.5% Abnormality of the metacarpal bones 7.5% Agenesis of central incisor 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Cleft palate 7.5% Cognitive impairment 7.5% High palate 7.5% Hydrocephalus 7.5% Laryngomalacia 7.5% Pectus excavatum 7.5% Porencephaly 7.5% Scoliosis 7.5% Seizures 7.5% Syndactyly 7.5% Tracheal stenosis 7.5% Wormian bones 7.5% Autosomal recessive inheritance - Bilateral postaxial polydactyly - Hypertelorism - Partial duplication of the phalanges of the hallux - Short palm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
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While massage may have developed a reputation as a decadent treat for people who love pampering, new studies are showingDon't Call It Pampering: Massage Wants To Be Medicine
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Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type of lesion (patches, plaques, or tumors). Mycosis fungoides and the Szary syndrome are hard to cure. Treatment is usually palliative, to relieve symptoms and improve the quality of life. Patients with early stage disease may live many years.
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Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures). People with mandibuloacral dysplasia can have mottled or patchy skin pigmentation or other skin abnormalities. Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. Some individuals with mandibuloacral dysplasia have metabolic problems, such as diabetes. A common feature of mandibuloacral dysplasia is a lack of fatty tissue under the skin (lipodystrophy) in certain regions of the body. The two types of this disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and mandibuloacral dysplasia with type B lipodystrophy (MADB) are distinguished by the pattern of fat distribution throughout the body. Type A is described as partial lipodystrophy; affected individuals have a loss of fatty tissue from the torso and limbs, but it may build up around the neck and shoulders. Type B is a generalized lipodystrophy, with loss of fatty tissue in the face, torso, and limbs. MADA usually begins in adulthood, although children can be affected. MADB begins earlier, often just after birth. Many babies with MADB are born prematurely.
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These resources address the diagnosis or management of familial paroxysmal nonkinesigenic dyskinesia: - Gene Review: Gene Review: Familial Paroxysmal Nonkinesigenic Dyskinesia - Genetic Testing Registry: Paroxysmal choreoathetosis - Genetic Testing Registry: Paroxysmal nonkinesigenic dyskinesia 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
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Your doctor will diagnose the cause of your cough based on your medical history, a physical exam, and test results. Medical History Your doctor will likely ask questions about your cough. He or she may ask how long you've had it, whether you're coughing anything up (such as mucus, a slimy substance), and how much you cough. Your doctor also may ask: About your medical history, including whether you have allergies, asthma, or other medical conditions. Whether you have heartburn or a sour taste in your mouth. These may be signs of gastroesophageal reflux disease (GERD). Whether you've recently had a cold or the flu. Whether you smoke or spend time around others who smoke. Whether you've been around air pollution, a lot of dust, or fumes. Physical Exam To check for signs of problems related to cough, your doctor will use a stethoscope to listen to your lungs. He or she will listen for wheezing (a whistling or squeaky sound when you breathe) or other abnormal sounds. Diagnostic Tests Your doctor may recommend tests based on the results of your medical history and physical exam. For example, if you have symptoms of GERD, your doctor may recommend a pH probe. This test measures the acid level of the fluid in your throat. Other tests may include: An exam of the mucus from your nose or throat. This test can show whether you have a bacterial infection. A chest x ray. A chest x ray takes a picture of your heart and lungs. This test can help diagnose conditions such as pneumonia and lung cancer. Lung function tests. These tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. Lung function tests can help diagnose asthma and other conditions. An x ray of the sinuses. This test can help diagnose a sinus infection.
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Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a more global autonomic disturbance associated with the original three characteristics, leading one author to suggest the name 4A syndrome (adrenal insufficiency, achalasia, alacrima, autonomic abnormalities). Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. Many of the neurological symptoms of triple A syndrome worsen over time. Triple A syndrome is caused by mutations in the AAAS gene and is inherited in an autosomal recessive pattern. Alacrimia is treated with artificial tears while achalasia may need surgery with either pneumatic dilatation or Heller's myotomy. Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement.
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Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish it from other types of holoprosencephaly caused by genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely among affected individuals, even within the same family. Nonsyndromic holoprosencephaly can be grouped into four types according to the degree of brain division. From most to least severe, the types are known as alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In the most severe forms of nonsyndromic holoprosencephaly, the brain does not divide at all. These affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most babies with severe nonsyndromic holoprosencephaly die before birth or soon after. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). The life expectancy of these affected individuals varies depending on the severity of symptoms. People with nonsyndromic holoprosencephaly often have a small head (microcephaly), although they can develop a buildup of fluid in the brain (hydrocephalus) that causes increased head size (macrocephaly). Other features may include an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip), one central front tooth instead of two (a single maxillary central incisor), and a flat nasal bridge. The eyeballs may be abnormally small (microphthalmia) or absent (anophthalmia). Some individuals with nonsyndromic holoprosencephaly have a distinctive pattern of facial features, including a narrowing of the head at the temples, outside corners of the eyes that point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and deep space between the nose and mouth (philtrum). In general, the severity of facial features is directly related to the severity of the brain abnormalities. However, individuals with mildly affected facial features can have severe brain abnormalities. Some people do not have apparent structural brain abnormalities but have some of the facial features associated with this condition. These individuals are considered to have a form of the disorder known as microform holoprosencephaly and are typically identified after the birth of a severely affected family member. Most people with nonsyndromic holoprosencephaly have developmental delay and intellectual disability. Affected individuals also frequently have a malfunctioning pituitary gland, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads to the partial or complete absence of these hormones, it can cause a variety of disorders. Most commonly, people with nonsyndromic holoprosencephaly and pituitary dysfunction develop diabetes insipidus, a condition that disrupts the balance between fluid intake and urine excretion. Dysfunction in other parts of the brain can cause seizures, feeding difficulties, and problems regulating body temperature, heart rate, and breathing. The sense of smell may be diminished (hyposmia) or completely absent (anosmia) if the part of the brain that processes smells is underdeveloped or missing.
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Potentially deadly bacteria flourish in hospital privacy curtains
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It is unclear so far what kind of cancer Ebert had been diagnosed with before his death; he had previously been diagnosedRoger Ebert: A Health History Of The Iconic Movie Critic
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This could be a reliable sign that you have sleep apnea, according to researchers from the University of Saskatchewan. "ThisElbow Test Could Help Diagnose Sleep Apnea
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Many of the drugs are common, such as some cholesterol-lowering statins, antibiotics and calcium channel blockers used toGrapefruit Drug Interactions: Fruit Reacts Dangerously With Expanding List Of Medications, Study Says
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Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs) into peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules, including VLCFAs. ABCD1 gene mutations result in a shortage (deficiency) of ALDP. When this protein is lacking, the transport and subsequent breakdown of VLCFAs is disrupted, causing abnormally high levels of these fats in the body. The accumulation of VLCFAs may be toxic to the adrenal cortex and myelin. Research suggests that the accumulation of VLCFAs triggers an inflammatory response in the brain, which could lead to the breakdown of myelin. The destruction of these tissues leads to the signs and symptoms of X-linked adrenoleukodystrophy.
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Thrombocythemia (THROM-bo-si-THE-me-ah) and thrombocytosis (THROM-bo-si-TO-sis) are conditions in which your blood has a higher than normal number of platelets (PLATE-lets). Platelets are blood cell fragments. They're made in your bone marrow along with other kinds of blood cells. Platelets travel through your blood vessels and stick together (clot). Clotting helps stop any bleeding that may occur if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites) because a blood clot also is called a thrombus. A normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. Overview The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. This condition occurs if faulty cells in the bone marrow make too many platelets. Bone marrow is the sponge-like tissue inside the bones. It contains stem cells that develop into red blood cells, white blood cells, and platelets. What causes the bone marrow to make too many platelets often isn't known. With primary thrombocythemia, a high platelet count may occur alone or with other blood cell disorders. This condition isn't common. When another disease or condition causes a high platelet count, the term "thrombocytosis" is preferred. This condition often is called secondary or reactive thrombocytosis. Secondary thrombocytosis is more common than primary thrombocythemia. Often, a high platelet count doesn't cause signs or symptoms. Rarely, serious or life-threatening symptoms can develop, such as blood clots and bleeding. These symptoms are more likely to occur in people who have primary thrombocythemia. Outlook People who have primary thrombocythemia with no signs or symptoms don't need treatment, as long as the condition remains stable. Other people who have this condition may need medicines or procedures to treat it. Most people who have primary thrombocythemia will live a normal lifespan. Treatment and outlook for secondary thrombocytosis depend on its underlying cause.
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What are the signs and symptoms of Sener syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sener 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) Anteriorly placed anus - Chronic diarrhea - Coarse hair - Delayed eruption of permanent teeth - Eczema - Entropion - High palate - Hyperopic astigmatism - Hypertelorism - Hypodontia - Hypoplasia of the corpus callosum - Inguinal hernia - Micropenis - Microtia - Natal tooth - Patent ductus arteriosus - Perivascular spaces - Polyhydramnios - Posteriorly rotated ears - Smooth philtrum - Sporadic - Umbilical hernia - Wide anterior fontanel - 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.
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"Since the trial was stopped earlier than expectations, we are operating under the assumption that the data were truly spectacularZytiga, Prostate Cancer Drug, Improves Survival: Study
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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.
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