Sleep Disorder Linked to Heart Rhythm Problems
Screening for disorder urged for patients with implantable defibrillators
By Mary Elizabeth Dallas
FRIDAY, May 20 (HealthDay News) -- People with an implantable cardiac defibrillator and a breathing disorder that occurs during sleep are at greater risk for potentially deadly heart problems during the night, new research suggests.
An implantable cardiac defibrillator (ICD) is a device that monitors heart rhythm and corrects an abnormal heartbeat with an electrical shock. The new study revealed a significant increase in cases of ventricular tachycardia (a dangerous rapid heartbeat) and ventricular fibrillation (a severely abnormal heart rhythm) among patients with ICDs who also were diagnosed with sleep-disordered breathing.
In the study, published in the May issue of the journal HeartRhythm, researchers in Israel analyzed 45 patients with ICDs in an overnight sleep study and followed them over the course of one year.
Twenty-six of the study participants (57.8 percent) had sleep-disordered breathing, and these patients were more likely to receive what the researchers call "appropriate ICD therapy" -- a shock to correct the heart rhythm.
The risk for ventricular arrhythmias was higher between midnight and 6 a.m. among patients with sleep-disordered breathing, the results showed. The researchers concluded that patients with an ICD who experience nighttime arrhythmias should undergo screening for sleep-disordered breathing.
"Currently, there is limited data available with regard to the predictors of fatal arrhythmias in patients with an ICD," study author Dr. Tawfig Zeidan-Shwiri, of Ramban Medical Center in Haifa, Israel, said in a news release from the Heart Rhythm Society.
"Our study sought to find specific clinical data to help improve the safety and quality of life of patients living with an ICD, and the results indicate that the presence of sleep-disordered breathing should be considered in all patients with appropriate ICD therapy," Zeidan-Shwiri added. "However, more studies are needed to assess whether treatment of sleep-disordered breathing reduces the risk of appropriate ICD therapy."
SOURCE: Heart Rhythm Society, news release, May 18, 2011
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Saturday, May 28, 2011
Standard Heart Drugs Won't Ease Pulmonary Hypertension Patients with pulmonary arterial hypertension don't benefit from aspirin or simvastatin, study finds
Standard Heart Drugs Won't Ease Pulmonary Hypertension
Patients with pulmonary arterial hypertension don't benefit from aspirin or simvastatin, study finds
By Mary Elizabeth Dallas
WEDNESDAY, May 18 (HealthDay News) -- Although commonly used to treat heart disease, aspirin and simvastatin offer no benefit to patients suffering from pulmonary arterial hypertension, or PAH, a progressive disease characterized by increased blood pressure in the arteries of the lungs, according to new research.
In a study funded by the U.S. National Institutes of Health, researchers divided 65 patients into four groups: one receiving aspirin; one taking simvastatin; one receiving both drugs; and one in which patients received a placebo (or dummy pill).
"Surprisingly, we found no evidence that aspirin or simvastatin had beneficial clinical effects in this population," said Dr. Steven Kawut, study lead author and associate professor of medicine and epidemiology at the University of Pennsylvania School of Medicine.
After taking the assigned medication for six months, patients were asked to see how far they could walk in six minutes. The distance tended to be shorter in the simvastatin group, and no difference was seen between the aspirin and placebo patients.
Following these early results, the U.S. National Heart, Lung, and Blood Institute discontinued the study based on a recommendation from the Data and Safety Monitoring Board.
"The results of this study do not support the routine treatment of PAH with these medications," Kawut said in an American Thoracic Society news release.
The findings are scheduled to be presented Wednesday at the American Thoracic Society international conference in Denver.
PAH, which is incurable, causes shortness of breath, dizziness and fatigue, and can lead to heart failure and death.
The researchers concluded that both aspirin and simvastatin may be prescribed for usual clinical indications in patients with PAH, but should not be administered specifically to treat PAH.
"The findings show the importance of subjecting traditional cardiovascular therapies and drugs which appear effective in the laboratory to placebo-controlled [randomized clinical trials] in humans before recommending their use," Kawut said.
Research presented at meetings is considered preliminary until published in a peer-reviewed journal.
SOURCE: American Thoracic Society, news release, May 18, 2011
Certain COPD Meds Linked to Urinary Troubles in Men Inhaled drugs such as Spiriva, Atrovent may raise odds for urinary retention, study finds
Certain COPD Meds Linked to Urinary Troubles in Men
Inhaled drugs such as Spiriva, Atrovent may raise odds for urinary retention, study finds
By Randy Dotinga
MONDAY, May 23 (HealthDay News) -- New research suggests that a certain class of drugs used to treat chronic obstructive pulmonary disease (COPD) boosts the risk that male patients will be unable to urinate.
The disease, which makes breathing difficult due to inflammation and blockage in the body's air passages, affects an estimated 10 percent of people aged 40 and older.
A class of drugs called "inhaled anticholinergic" medications are used to treat the conditions, but there are concerns about their side effects. These drugs include tiotropium (Spiriva), ipratropium bromide (brand name Atrovent) or Combivent, which is ipratropium combined with albuterol.
In the new Canadian study, Dr. Anne Stephenson of St. Michael's Hospital in Toronto and colleagues examined medical records from people in Ontario, aged 66 and older, who suffered from chronic obstructive pulmonary disease.
Of the more than 565,000 patients studied, 9,432 men and 1,806 women developed an inability to urinate. Among men, the researchers found a statistically significant link between those who took the drugs and those who didn't. Among those taking the drugs, the odds of the urinary condition were about 40 percent higher in those who'd been using the drugs for 4 weeks or less, and they were 80 percent higher among those with enlarged prostate glands.
"Physicians should highlight for patients the possible connection between urinary symptoms and inhaled respiratory medication use to ensure that changes in urinary flow (i.e., incomplete voiding, urinary incontinence, and decreased urinary flow) are reported to the physician," the authors wrote.
The researchers added that low doses of the drugs may reduce a patient's risk for these urinary problems.
The study is published in the May 23 issue of the Archives of Internal Medicine.
SOURCE: JAMA/Archives, news release, May 23, 2011
Heart failure risk lower in women who often eat baked/broiled fish American Heart Association Rapid Access Journal Report
Heart failure risk lower in women who often eat baked/broiled fish
American Heart Association Rapid Access Journal Report
Study Highlights:
The risk of developing heart failure was lower for postmenopausal women who frequently ate baked or broiled fish, but higher for those who ate more fried fish.
Dark fish such as salmon was healthier for the heart than tuna or white fish such as sole.
Eating fried fish one or more times per week was associated with a 48 percent higher risk of heart failure in postmenopausal women compared to those who ate it infrequently.
DALLAS, May 24, 2010 — The risk of developing heart failure was lower for postmenopausal women who frequently ate baked or broiled fish, but higher for those who ate more fried fish, in a study reported in Circulation: Heart Failure, an American Heart Association journal.
In a large-scale analysis, women who ate the most baked/broiled fish (five or more servings/week) had a 30 percent lower risk of heart failure compared to women who seldom ate it (less than one serving/month).
Previous research has found that fatty acids (omega-3) in fish — EPA, DHA and ALA — may lower risk of cardiovascular disease by decreasing inflammation, resisting oxidative stress and improving blood pressure, cardiac and blood vessel function.
This study showed that they type of fish and cooking method may affect heart failure risk. The researchers found that dark fish (salmon, mackerel and bluefish) were associated with a significantly greater risk reduction than either tuna or white fish (sole, snapper and cod).
In a similar analysis, eating fried fish was associated with increased heart failure risk. Even one serving a week was associated with a 48 percent higher heart failure risk.
“Not all fish are equal, and how you prepare it really matters,” said Donald Lloyd-Jones, M.D., Sc.M., senior author of the study. “When you fry fish, you not only lose a lot of the benefits, you likely add some things related to the cooking process that are harmful.”
Other research has shown that frying increases the trans fatty acid (TFA) content of foods, which is associated with increasing risk for heart disease. In this study, however, the researchers did not find an association between TFA and heart failure risk.
Lloyd-Jones and his team examined self-reported dietary data from 84,493 postmenopausal women in the Women’s Health Initiative Observational Study. They then divided study participants based on the frequency and type of fish consumption. Two groups of fish intake were defined: baked/broiled fish or fried fish. The baked/broiled fish group consisted of canned tuna, tuna salad, tuna casserole, white fish (broiled or baked), dark fish (broiled or baked) and shellfish (not fried). The fried fish group consisted of fried fish, fish sandwich and fried shellfish.
They conducted their analysis based on data from 1991 through August 2008. During an average follow-up of 10 years, 1,858 cases of heart failure occurred.
Most participants (85 percent) were Caucasian, 7 percent African-American and 3 percent Hispanic. Their average age was 63 at baseline.
Participants whose diets included more baked/broiled fish tended to be healthier and younger than their counterparts who ate fried fish. They were more physically active and fit, more educated and less likely to smoke, have diabetes, high blood pressure and heart disease (irregular heartbeat and coronary artery disease). Furthermore, their diets contained more fruits and vegetables, less unhealthy, saturated and trans fatty acids and more beneficial fatty acids, which are found in fish and in non-marine foods such as nuts, seeds and certain vegetable oils. Consumption of fried fish was associated with higher body mass index (a weight-to-height ratio), higher energy intakes (calories) and lower fiber consumption. Consumption of other fried foods besides fish was adjusted in the analysis.
While previous studies have linked omega-3 fatty acids to a decrease in some types of heart disease, their precise relationship to heart failure risk was unclear. Researchers sought to clarify the connection between fish and heart failure risk in postmenopausal women.
“Baking or broiling fish and eating it frequently seem to be part of a dietary pattern that is very beneficial for a number of things,” said Lloyd-Jones, associate professor, preventive cardiologist and chair of the Department of Preventive Medicine at Northwestern University Feinberg School of Medicine in Chicago. “In this case, we demonstrated that it’s associated with heart failure prevention. This suggests that fish is a very good source of lean protein that we ought to be increasing as a proportion of our diet and decreasing foods that contain less healthy saturated and trans fats.”
The results of this study are consistent with previous findings in studies of older American and Swedish populations, he said, “but the new study adds the interesting results on darker fish. They also suggest that baked/broiled fish is associated with reduced risk of heart failure through mechanisms other than reducing risk for a heart attack, a precursor to heart failure in some people.”
In the United States, heart failure affects about 5.7 million people. Although the heart continues to function in this disease, it’s unable to pump blood efficiently enough to meet the body’s needs. Heart failure has many different causes, including smoking, high blood pressure, diabetes, overweight, lack of physical activity and poor diet. It’s often treatable with lifestyle changes, medicine or surgery.
Co-authors are: Rashad J. Belin, Ph.D., M.S.C.I.; Philip Greenland, M.D.; Lisa Martin, M.D.; Albert Oberman, M.D.; Lesley Tinker, Ph.D.; Jennifer Robinson, M.D.; Joseph Larson, M.S.; and Linda Van Horn, Ph.D., R.D. Author disclosures are on the manuscript. The National Heart, Lung, and Blood Institute funded the study.
Menopausal Estrogen Therapy Benefits and Risks Vary by Age, WHI Analysis Suggests
Menopausal Estrogen Therapy Benefits and Risks Vary by Age, WHI Analysis Suggests
Adapted from the NCI Cancer Bulletin.
Long-term follow-up data from the Women’s Health Initiative (WHI) provide important new information about the potential risks and benefits of hormone therapy to treat symptoms or conditions related to menopause, including its effect on breast cancer risk. The results were published April 5, 2011, in the Journal of the American Medical Association.
Overall, the study found, among postmenopausal women who had had a hysterectomy, use of conjugated equine estrogens alone for an average of 6 years had little to no effect on the risk of death, coronary heart disease, colorectal cancer, and hip fractures, or on other serious health problems, compared with placebo treatment. Estrogen-only treatment was associated with a statistically significant decrease in the risk of breast cancer.
However, there were some notable differences in estrogen effects by age. Estrogen therapy decreased the risk of heart disease and mortality among women in their 50s but markedly increased these risks for women in their 70s. In contrast, the decreased breast cancer risk associated with estrogen use was seen regardless of age.
The WHI estrogen-alone clinical trial, launched in 1993, randomly assigned more than 10,739 women between the ages of 50 and 79—all of whom were past menopause and had had a hysterectomy—to take daily estrogen or a placebo. In 2004, the study was stopped early because of an increased risk of stroke and blood clots in women receiving estrogen. Nearly 80 percent of the trial participants agreed to be monitored beyond the study’s termination; this most recent analysis covers nearly 11 years of follow-up in trial participants.
The findings reinforce the concept that “estrogen affects many organ systems in the body and changes the risk of many diseases,” said the study’s lead investigator, Andrea LaCroix, Ph.D., of the Fred Hutchinson Cancer Research Center in Seattle. “Depending on age group and hysterectomy status, the consequences [of estrogen-only therapy] can vary dramatically.”
The increased risks of stroke and blood clots that were seen while women were actively receiving treatment were no longer present after women halted therapy, the study authors noted.
The analysis is the latest update in an ongoing, large-scale effort to establish more definitively the risks and benefits of menopausal hormone therapy, including its effect on cancer risk and mortality. Previous studies from the WHI, for example, have clearly shown that combination therapy with estrogen plus progestin increases breast cancer incidence and death, as well as lung cancer mortality. And just 2 months ago, British researchers reporting on longer-term follow-up from the Million Women Study (MWS) also found that combination estrogen and progestin therapy, when started immediately after menopause, increased breast cancer risk regardless of hysterectomy status.
Earlier analyses from the WHI estrogen-alone trial suggested that there may be a reduction in breast cancer incidence, but it was only with longer-term follow-up that this trend reached statistical significance, according to Leslie Ford, M.D., of NCI’s Division of Cancer Prevention and the Institute’s WHI liaison. In absolute terms, the current analysis indicated, there would be eight fewer cases of breast cancer for every 10,000 women who had undergone menopause and had a hysterectomy if they took estrogen daily for 6 years.
The WHI findings also contrast with some of the recent findings from the MWS, wrote Emily Jungheim, M.D., and Graham Colditz, M.D., Dr.P.H., of the Washington University School of Medicine in St. Louis, in an accompanying editorial. In the MWS—which was an observational study and not a randomized clinical trial like the WHI estrogen-alone trial—there was an increased breast cancer risk in women who began estrogen-only therapy within 5 years of menopause. The editorialists also pointed out that 68 percent of women in the WHI trial were 60 years of age or older when they entered the study.
“Given this fact and the findings from the Million Women Study, an important question that emerges is whether the WHI population is appropriate for reaching definitive conclusions regarding younger women and the risk of breast cancer associated with [menopausal hormone therapy],” they wrote.
Although she acknowledged the somewhat conflicting findings, Dr. Ford stressed that the WHI results are from a large, randomized clinical trial. Randomized clinical trials are considered to be the highest level of evidence and, consequently, are routinely used to inform clinical decision making.
Use of menopausal hormone therapy has continued to decline since the early 2000s, when the initial findings of the WHI clinical trial of estrogen plus progestin showed an increased risk of breast cancer and serious cardiac events with the combination. That decline has since been linked to a parallel decrease in breast cancer incidence rates.
In terms of breast cancer risk, Dr. Ford believes the results from the WHI estrogen-alone trial should be reassuring for younger postmenopausal women who have had a hysterectomy and are receiving or considering estrogen therapy. “For younger women,” she continued, “they can feel more comfortable following the current guidelines for using the lowest dose of estrogen for the shortest time.”
But both Drs. Ford and LaCroix agreed that for older women, the potential benefits of menopausal hormone therapy of any kind do not outweigh the risks.
“Our data clearly indicate that hormone therapy use in older women is potentially dangerous,” Dr. LaCroix said.
Swimmer's Ear Costs Up to $500 Million a Year in U.S. Take steps to prevent this common water-related infection, CDC advises
Swimmer's Ear Costs Up to $500 Million a Year in U.S.
Take steps to prevent this common water-related infection, CDC advises
By Margaret Steele
THURSDAY, May 19 (HealthDay News) -- Summer fun can take a nose dive if someone in the family gets swimmer's ear, a common infection that accounts for almost $500 million in U.S. health-care costs each year, according to a new government report.
Swimmer's ear results in 2.4 million doctor visits annually in the United States, each visit costing an average of $200, according to the report from the U.S. Centers for Disease Control and Prevention, published in the agency's May 20 Morbidity and Mortality Weekly Report.
"Most people think of swimmer's ear as a mild condition that quickly goes away, but this common infection is responsible for millions of illnesses and substantial medical costs each year," Michael Beach, the CDC's associate director for healthy water, said in a CDC news release. Many of these cases are preventable, he added.
The painful condition is caused by water from swimming, bathing or other wet activities sitting too long in the ear canal, allowing germs to multiply. Warm temperatures and humidity increase the risk of developing swimmer's ear, which is commonly caused by germs found in pools, lakes and other recreational swimming spots, the CDC authors explained.
The infection usually clears up with a regimen of prescription antimicrobial ear drops.
The report, which the CDC said is the first to look at the costs associated with swimmer's ear, found that one out of 123 Americans sought medical treatment for swimmer's ear in 2007.
Children between 5 and 14 years old had the highest rates of doctor's visits between 2003 and 2007, the researchers found, but adults 21 and older accounted for more than half of the visits.
Forty-four percent of reported cases occurred in June, July or August, and the South was the region with the highest rates.
Researchers used data from two national databases to determine the number of outpatient visits for swimmer's ear between 2003 and 2007. To estimate the costs of those visits, they looked at an insurance database for millions of people who have employer-provided health insurance. The cost estimate included what the insurers paid, the patients' out-of-pocket costs, and the price of prescription treatments.
After determining that the average per-patient cost was $200, researchers multiplied that amount by the 2.4 million cases to arrive at the total health cost estimate for swimmer's ear.
"By taking simple steps before and after swimming or coming in contact with water, people can greatly reduce their risk of this painful infection," Beach said in the news release.
These recommendations include:
Dry your ears after swimming or showering.
If you're around water, try to keep ears dry.
Don't put foreign objects in the ear canal or remove ear wax yourself because these can irritate skin inside the ear, possibly leading to an infection.
Ask your doctor if you should use alcohol-based ear drops after swimming.
Itchy, flaky, swollen or painful ears could indicate you have swimmer's ear. If you notice these symptoms, or have fluid draining from your ears, you should consult your doctor, experts advise.
SOURCE: U.S. Centers for Disease Control and Prevention, news release, May 19, 2011
Black Americans With Lupus Have Better Response to Flu Vaccine Those with weak reaction more likely to have disease flares after vaccination, researchers say
Black Americans With Lupus Have Better Response to Flu Vaccine
Those with weak reaction more likely to have disease flares after vaccination, researchers say
By Robert Preidt
THURSDAY, May 19 (HealthDay News) -- Black Americans with lupus have a higher antibody response to flu vaccination than whites with lupus, a new study says.
This may be good news for black Americans with the disease, since patients who had a weak response to the flu vaccine were more likely to experience moderate to severe disease flares following vaccination, compared to patients who had a greater response.
As many as 322,000 adults in the United States have systemic lupus erythematosus (SLE), an autoimmune disorder in which the immune system produces antibodies that attack the body's own tissues and organs. Immunosuppressive therapy and immune system problems make lupus patients more susceptible to infection, according to the researchers.
Because of this increased risk, vaccination against common infectious diseases such as the flu are recommended for lupus patients.
In this study, U.S. researchers analyzed blood samples and disease activity of 72 lupus patients and 72 healthy patients before they received a flu vaccination and two, six and 12 weeks after vaccination. Based on their antibody response to flu vaccination, the patients were categorized as either high or low responders.
Black patients were three times more likely to be high responders than whites. The researchers also found that patients taking the immunosuppressant drug prednisone (10 mg/day or more) were more likely to be low responders (67 percent) than high responders (47 percent).
A low response was also more likely among patients with a history of hemolytic anemia.
The study appears online May 19 in the journal Arthritis & Rheumatism.
"Studies investigating biomarkers that could predict which lupus patients are likely to experience a flare following vaccination are already under way," wrote lead researcher Dr. Judith James, chair of the arthritis and clinical immunology program at the Oklahoma Medical Research Foundation and professor of medicine at the University of Oklahoma Health Sciences Center, and colleagues, in a journal news release.
"This information, along with serologic tests of patients expected to mount a weak response, would help clinicians identify those SLE patients who may need an alternate vaccination schedule or would need to be closely monitored after receiving the influenza vaccine," she added.
Infectious diseases cause 23 percent of all hospitalizations and 20 percent to 50 percent of all deaths among lupus patients.
The Lupus Foundation of America has designated May as Lupus Awareness Month.
SOURCE: Arthritis & Rheumatism, news release, May 19, 2011
Hereditary sensory and autonomic neuropathy type II (often shortened to HSAN2) Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions
Hereditary sensory and autonomic neuropathy type II
(often shortened to HSAN2)
Description Genetic changes Inheritance Treatment Additional information Other names Glossary definitions
What is HSAN2?
Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN2. In some affected people, the condition may also cause mild abnormalities of the autonomic nervous system, which controls involuntary body functions such as heart rate, digestion, and breathing. The signs and symptoms of HSAN2 typically begin in infancy or early childhood.
The first sign of HSAN2 is usually numbness in the hands and feet. Soon after, affected individuals lose the ability to feel pain or sense hot and cold. People with HSAN2 often develop open sores (ulcers) on their hands and feet. Because affected individuals cannot feel the pain of these sores, they may not seek treatment right away. Without treatment, the ulcers can become infected and may lead to amputation of the affected area. Unintentional self-injury is common in people with HSAN2, typically by biting the tongue, lips, or fingers. These injuries may lead to spontaneous amputation of the affected areas. Affected individuals often have injuries and fractures in their hands, feet, limbs, and joints that go untreated because of the inability to feel pain. Repeated injury can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.
The effects of HSAN2 on the autonomic nervous system are more variable. Some infants with HSAN2 have trouble sucking, which makes it difficult for them to eat. People with HSAN2 may experience episodes in which breathing slows or stops for short periods (apnea); digestive problems such as the backflow of stomach acids into the esophagus (gastroesophageal reflux); or slow eye blink or gag reflexes. Affected individuals may also have weak deep tendon reflexes, such as the reflex being tested when a doctor taps your knee with a hammer.
Some people with HSAN2 lose a type of taste bud on the tip of the tongue called lingual fungiform papillae and have a diminished sense of taste.
How common is HSAN2?
HSAN2 is a rare disease; however, the prevalence is unknown.
What genes are related to HSAN2?
There are two types of HSAN2, called HSAN2A and HSAN2B, each caused by mutations in a different gene. HSAN2A is caused by mutations in the WNK1 gene, and HSAN2B is caused by mutations in the FAM134B gene. Although two different genes are involved, the signs and symptoms of HSAN2A and HSAN2B are the same.
The WNK1 gene provides instructions for making multiple versions (isoforms) of the WNK1 protein. HSAN2A is caused by mutations that affect a particular isoform called the WNK1/HSN2 protein. This protein is found in the cells of the nervous system, including nerve cells that transmit the sensations of pain, temperature, and touch (sensory neurons). The mutations involved in HSAN2A result in an abnormally short WNK1/HSN2 protein. Although the function of this protein is unknown, it is likely that the abnormally short version cannot function properly. People with HSAN2A have a reduction in the number of sensory neurons; however, the role that WNK1/HSN2 mutations play in that loss is unclear.
HSAN2B is caused by mutations in the FAM134B gene. These mutations may lead to an abnormally short and nonfunctional protein. The FAM134B protein is found in sensory and autonomic neurons. It is involved in the survival of neurons, particularly those that transmit pain signals, which are called nociceptive neurons. When the FAM134B protein is nonfunctional, neurons die by a process of self-destruction called apoptosis.
The loss of neurons leads to the inability to feel pain, temperature, and touch sensations and to the impairment of the autonomic nervous system seen in people with HSAN2.
Read more about the FAM134B and WNK1 genes.
How do people inherit HSAN2?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about diagnosis, management, or treatment of HSAN2?
These resources address the diagnosis or management of HSAN2 and may include treatment providers.
Gene Review: Hereditary Sensory and Autonomic Neuropathy Type II
Gene Tests: Hereditary Sensory and Autonomic Neuropathy Type IIA
Gene Tests: Hereditary Sensory and Autonomic Neuropathy Type IIB
You might also find information on the diagnosis or management of HSAN2 in Educational resources and Patient support.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Asthma Flare-ups Why do I need to worry about flare-ups?
Asthma Flare-ups
Why do I need to worry about flare-ups?
To keep your asthma under control, you need to know what to do when you have a flare-up of symptoms (sometimes called an “exacerbation” or an “asthma attack”). First, you need to know the warning signs of a flare-up. Second, you need to know what to do when your asthma gets worse so you can get it under control quickly.
What causes asthma symptoms to flare up?
Your asthma can flare up for many different reasons. Allergies can make your asthma symptoms get worse. Viral infections (such as a cold), tobacco, pollutants (such as wood smoke), cold air, exercise, fumes from chemicals or perfume, sinus infections and heartburn can all cause a flare-up. For some people, strong emotions or stress can trigger an asthma attack. Pay attention to the way these things affect your asthma. If you and your doctor figure out which things bother your asthma, you can start trying to address them.
What are the symptoms of an asthma flare-up?
Common symptoms of an asthma flare-up are coughing, feeling breathless, a feeling of tightness in the chest and wheezing (breathing that makes a hoarse, squeaky, musical or whistling sound). Watch yourself every day for any of these symptoms.
How do I know how serious a flare-up is?
Your doctor will show you how to keep track of your asthma by using a peak flow meter. This device measures your peak expiratory flow rate (PEFR), or how fast you can blow air out of your lungs. First, you find out your “personal best” peak flow. This is the highest reading you can get on the meter over a 2-week period when your asthma is under good control.
Here are some guidelines on using a peak flow meter to find out how serious an asthma flare-up is:
During mild flare-ups, you may feel breathless when you walk or exercise, but feel OK when you sit still. You can usually breathe well enough to talk in complete sentences. You may hear some wheezing, mostly when you breathe out. Your peak flow readings will be 80% to 100% of your personal best.
During moderate flare-ups, you may feel breathless when you talk or walk around, but feel better when you sit quietly. You may not be able to finish whole sentences without taking a breath. You may find yourself needing more quick-acting medicine to treat your asthma symptoms as they get worse, or awakening more often at night with asthma symptoms. You may hear loud wheezing, especially when you breathe out. Your peak flow readings will likely be between 50% and 80% of your personal best.
During serious flare-ups, breathing will be very difficult. You’ll feel breathless even when you’re sitting still. You might only use a few words at a time because you’re so short of breath. You’ll feel anxious or tense. You continue to get worse even when using your quick-acting medicine to treat your worsening asthma symptoms. Your peak flow readings will likely be less than 50% of your personal best. If you feel very tired and confused, you may be having a life-threatening attack. Serious flare-ups mean you need to be treated right away, preferably in an emergency room.
How is an asthma flare-up treated?
If you feel like you're having a flare-up, use your quick-acting medicine or quick-relief inhaler (sometimes called a rescue medicine) right away. Be sure you and your doctor talk beforehand about how much medicine to take during a flare-up.
To figure out how serious the flare-up is, use your peak flow meter after you use the quick-acting medicine. If your peak flow is less than 50% of your personal best, your flare-up is serious.
Ask your doctor for written directions about treating asthma flare-ups. (Your doctor may have a form to give you, or you can print out this one.) If you have the symptoms of a serious flare-up or if your peak flow is less than 50% of your personal best, call your doctor right away or go directly to the nearest emergency room (by ambulance, if necessary).
Illegal Drugs Easy to Buy on the Internet, U.K. Study Finds 'Legal highs,' containing controlled substances, provide booming business for online retailers
Illegal Drugs Easy to Buy on the Internet, U.K. Study Finds
'Legal highs,' containing controlled substances, provide booming business for online retailers
By Mary Elizabeth Dallas
WEDNESDAY, May 25 (HealthDay News) -- The Internet has put the world at people's fingertips, but in some cases it has also allowed banned or controlled substances to slip within their grasp, British researchers warn.
Their new study, published online May 19 in Drug Testing and Analysis, looked at so-called "legal highs," where certain drugs sold online contain ingredients other than those claimed and can be hazardous. These products are quickly becoming big business for manufacturers and suppliers, who market them toward recreational drug users.
"It is clear that consumers are buying products that they think contain specific substances, but that in reality the labels are unreliable indicators of the actual contents," Dr. Mark Baron, of the School of Natural and Applied Sciences at the University of Lincoln in England, said in a news release from the journal's publisher.
Although these "legal highs" are often readily available for purchase on the Internet, they are potentially dangerous for consumers, the study authors pointed out. The investigators found that these drugs, sometimes marketed as bath salts or plant food, commonly contain controlled substances and are being sold illegally.
In investigating these drugs, Baron bought an array of pills from U.K. websites and analyzed their contents. Six out of seven products purchased did not contain the active ingredients advertised.
In fact, in five out of seven cases, the products actually contained a controlled substance combined with caffeine. Among them was benzylpiperazine, a stimulant drug that is illegal in the United States and can cause anxiety, increased blood pressure, rapid heart rate and blurred vision, among other side effects.
Although the United Kingdom and other governments have taken steps to crack down on these "legal highs," suppliers continue to market these drugs, side-stepping current regulations. As a result, Baron cautioned buyers to be wary of any products they buy online.
"No guidelines exist as to what is sold and in what purity, and consumers are led to believe that purchased goods are entirely legal," he said. "The product name cannot be used as an indication of what it contains as there is variation in the content of the same product name between different Internet sites," Baron added.
The findings should serve as a red flag for consumers, as well as the lawmakers attempting to curb the illegal sale of controlled substances, the study authors noted.
"As legislation deals with the current crop of products we can expect to see new products appearing that try to find a route of supplying previously banned substances," Baron warned.
SOURCE: Drug Testing and Analysis, news release, May 20, 2011
Adding Radiation to Chemotherapy May Improve Outcomes in Early-Stage Hodgkin Lymphoma
Adding Radiation to Chemotherapy May Improve Outcomes in Early-Stage Hodgkin Lymphoma
Summary
Combined data from five randomized clinical trials appear to suggest that combined radiation therapy and chemotherapy for patients with early-stage Hodgkin lymphoma decreases the risk of relapse and increases overall survival compared with chemotherapy alone. However, these data are insufficient to draw firm conclusions that could be used to definitely inform therapy. Also, these data do not address the known risks of radiation therapy, which include late-term organ damage and second cancers.
Source
Cochrane Database of Systematic Reviews, published online February 16, 2011 (see the journal abstract).
Background
The combination of radiation therapy and chemotherapy is currently a standard treatment for some stages of Hodgkin lymphoma. However, radiation therapy can cause late side effects in survivors. Since patients with Hodgkin lymphoma tend to be young at the time of treatment, many survivors have decades of life after treatment in which late side effects could occur. These side effects include second cancers, most commonly breast cancer in young women who receive radiation therapy to the chest.
Given the long-term effects of radiation therapy, some researchers have questioned its use in patients with early-stage disease, suggesting that treatment with chemotherapy alone could result in comparable or even better long-term survival. Individual clinical trials testing chemotherapy alone against chemotherapy plus radiation therapy have included relatively small numbers of patients. Therefore, the authors combined data from several trials—called a meta-analysis—to learn what this kind of analysis would say about omitting radiation therapy in patients with early-stage Hodgkin lymphoma.
The Study
Researchers from the Cochrane Haematological Malignancies Group combined data from 1,245 patients enrolled in five randomized trials. Each trial had compared outcomes among patients treated with six cycles of chemotherapy alone with those among patients treated with six cycles of chemotherapy plus radiation therapy.
The earliest trial included in the study was started in the 1970s. The most recent trial recruited patients between 1998 and 2004. In all five trials, patients had stage I or stage II disease. Median follow-up for the trials ranged between 2 and 11.4 years.
Results
Patients who received the combination of radiation therapy and chemotherapy lived longer than patients who received chemotherapy alone. The authors estimated that one life would be saved for every 11 to 55 patients treated with combination therapy instead of with chemotherapy alone. Patients who received combination therapy also had a lower risk of relapse. For every six patients treated with combination therapy instead of chemotherapy alone, the authors estimated, one relapse would be prevented.
During the trials, patients receiving either treatment experienced similar side effects. However, “long-term adverse effects such as secondary malignancies…can occur later than the reported observation times of the discussed trials,” explained the authors. This long lag time makes it impossible to determine from the available data if deaths due to late side effects differ between the two groups.
Limitations
The lack of long-term data on second cancers and other late effects is a major limitation of this study, explained Dr. Richard Little, an investigator with NCI’s Division of Cancer Treatment and Diagnosis. “The conclusions of this study should be viewed with circumspection, particularly for younger patients,” he said.
“There is up to a 1 percent yearly incidence of secondary cancers from radiation therapy,” he continued. “Hopefully modern radiation techniques will reduce this incidence, but long-term data are not available. The fact remains that the majority of patients are cured with chemotherapy alone. Consigning all patients to receive chemotherapy and radiation therapy results in overtreatment for most, thus exposing them to unnecessary risk.”
Springtime and the Sneezin' Is Easy Long, wet winter helped make this pollen season more miserable, experts say
Springtime and the Sneezin' Is Easy
Long, wet winter helped make this pollen season more miserable, experts say
THURSDAY, May 19 (HealthDay News) -- For people with pollen allergies, this year is especially tough, say allergy experts.
"Everyone always has a reason to think the current year is the worst year ever for allergies," said Dr. David Rosenstreich, director of the allergy and immunology division at Montefiore Medical Center in New York City.
But this year those complaints really do have some merit, he added.
"It's been a very unusual allergy season. I don't know if it's because of the very wet winter or that it's been cold longer, but the pollen counts are much higher. This week, it's been running about 6,000 grains a day, instead of the usual 1,500," Rosenstreich said of his local area.
Pollen grains are the tiny male cells from flowering plants and trees, according to the American Academy of Allergy, Asthma and Immunology (AAAAI). Sometimes, bees and other insects carry pollen from plant to plant, but some plants release the pollen into the air for the wind to carry.
While that may work for plants and trees, it can cause sneezing and stuffiness in humans with over-sensitive immune systems who are exposed to these airborne cells.
Pollen counts vary from area to area. For example, normal pollen counts in the northeastern United States are generally much higher than in the Midwest or Southwest in the spring, because the Northeast has far more trees.
But this year, there's little relief anywhere for allergy sufferers. Dr. Joseph Leija, an allergist at Loyola University Health System's Gottlieb Memorial Hospital in Melrose Park, Ill., said 2011 is the worst year he's ever seen for high pollen counts.
Leija provides pollen counts for the Midwest to the National Allergy Bureau, a division of the AAAAI. His most recent count was 1,500, which is very high for the Midwest, he said.
An unusually wet winter and temperatures that varied from too warm back down to colder than average have made trees in the Midwest pollinate in stages, and to finish pollinating later than normal, Leija said. "Usually, by this time of the year, the pollen count goes down, and people usually aren't prepared to be dealing with allergies in late May," said Leija.
Climate change is also affecting allergy seasons. "Climate change is making pollen seasons start earlier and end later. And the increased carbon dioxide in the atmosphere makes ragweed stronger in the fall," said Rosenstreich.
So, if you're suffering this spring, what can you do to feel better?
One of the most important things you can do, said Leija, is to take your clothes off outside of your bedroom, and shower at night.
"If you're outdoors during the day, your hair and clothes get pollen on them. If you take a shower in the evening and keep your clothes out of the bedroom, you keep the pollen out of your bedroom," he said. That may help alleviate a lot of your symptoms, he said.
Another mistake is opening up all of the windows. While that may bring in fresh air, it also brings in pollen. Instead, Leija and Rosenstreich recommend running an air conditioner so that any air coming into the home is filtered. Rosenstreich said that air filters can help if you run them with the windows shut.
Certain foods may make you more sensitive to tree pollens, and vice versa, Leija said. Foods to avoid during the spring if you have allergies include apples, celery, peaches, pears, cherries, hazelnuts and plums, he said.
"People often complain they have itching in the roof of their mouth or throat after eating these foods and they didn't know why," said Leija.
Both experts recommended trying an over-the-counter antihistamine. Rosenstreich said many are available in non-drowsy 24-hour formulations. If those don't provide relief, he said, it's time to see an allergist. Prescription medications, such as nasal steroid sprays and antihistamine eye drops, may help relieve your itchy eyes and runny nose.
And, if you're really miserable every springtime, Rosenstreich said you might want to consider allergy shots so that next spring you aren't one of those saying, "This year's allergies are the worst ever."
SOURCES: Joseph Leija, M.D., allergist, Loyola University Health System, Gottlieb Memorial Hospital, Chicago; David Rosenstreich, M.D., director, division of allergy/immunology, Montefiore Medical Center, New York City
Fact Sheet: Pediatric Obesity and Ear, Nose, and Throat Disorders
Fact Sheet: Pediatric Obesity and Ear, Nose, and Throat Disorders
Today in the United States, studies estimate that 34 percent of U.S. adults are overweight and an additional 31 percent (approximately 60 million) are obese. Combined, approximately 127 million Americans are overweight or obese. Some 42 years ago, 13 percent of Americans were obese, and in 1980 15 percent were considered obese.
Alarmingly, the number of children who are overweight or obese has doubled in the last two decades as well. Currently, more than 15 percent of 6- to 11-year-olds and more than 15 percent of 12- to 19-year-olds are considered overweight or obese.
What is the difference between designated “obese” versus “overweight?”
Unfortunately, the words overweight and obese are often interchanged. There is a difference:
Overweight: Anyone with a body mass index (BMI) (a ratio between your height and weight) of 25 or above (e.g., someone who is 5-foot-4 and 145 pounds) is considered overweight.
Obesity: Anyone with a BMI of 30 or above (e.g., someone who is 5-foot-4 and 175 pounds) is considered obese.
Morbid obesity: Anyone with a BMI of 40 or above (e.g., someone who is 5-foot-4 and 233 pounds) is considered morbidly obese. "Morbid" is a medical term indicating that the risk of obesity related illness is increased dramatically at this degree of obesity.
Obesity can present significant health risks to the young child. Diseases are being seen in obese children that were once thought to be adult diseases. Many experts in the study of children’s health suggest that a dysfunctional metabolism, or failure of the body to change food calories to energy, precedes the onset of disease. Consequently, these children are at risk for Type II Diabetes, fatty liver, elevated cholesterol, SCFE (a major hip disorder), menstrual irregularities, sleep apnea, and irregular metabolism. Additionally, there are psychological consequences; obese children are subject to depression, loss of self-esteem, and isolation from their peers.
Pediatric obesity and otolaryngic problems
Otolaryngologists, or ear, nose, and throat specialists, diagnose and treat some of the most common children’s disorders. They also treat ear, nose, and throat conditions that are common in obese children, such as:
Sleep apnea:
Children with sleep apnea literally stop breathing repeatedly during their sleep, often for a minute or longer, usually ten to 60 times during a single night. Sleep apnea can be caused by either complete obstruction of the airway (obstructive apnea) or partial obstruction (obstructive hypopnea—hypopnea is slow, shallow breathing), both of which can wake one up. There are three types of sleep apnea—obstructive, central, and mixed. Of these, obstructive sleep apnea (OSA) is the most common. Otolaryngologists have pioneered the treatment for sleep apnea; research shows that one to three percent of children have this disorder, often between the age of two-to-five years old.
Enlarged tonsils, which block the airway, are usually the key factor leading to this condition. Extra weight in obese children and adults can also interfere with the ability of the chest and abdomen to fully expand during breathing, hindering the intake of air and increasing the risk of sleep apnea.
The American Academy of Pediatrics has identified obstructive sleep apnea syndrome (OSAS) as a “common condition in childhood that results in severe complications if left untreated." Among the potential consequences of untreated pediatric sleep apnea are growth failure; learning, attention, and behavior problems; and cardio-vascular complications. Because sleep apnea is rarely diagnosed, pediatricians now recommend that all children be regularly screened for snoring.
Middle ear infections:
Acute otitis media (AOM) and chronic ear infections account for 15 to 30 million visits to the doctor each year in the U.S. In fact, ear infections are the most common reason why an American child sees a doctor. Furthermore, the incidence of AOM has been rising over the past decades. Although there is no proven medical link between middle ear infections and pediatric obesity there may be a behavioral association between the two conditions. Some studies have found that when a child is rubbing or massaging the infected ear the parent often responds by offering the child food or snacks for comfort.
When a child does have an ear infection the first line of treatment is often a regimen of antibiotics. When antibiotics are not effective, the ear, nose and throat specialist might recommend a bilateral myringotomy with pressure equalizing tube placement (BMT), a minor surgical procedure. This surgery involves the placement of small tubes in the eardrum of both ears. The benefit is to drain the fluid buildup behind the eardrum and to keep the pressure in the ear the same as it is in the exterior of the ear. This will reduce the chances of any new infections and may correct any hearing loss caused by the fluid buildup.
Postoperative vomiting (POV) is a common problem after bilateral myringotomy surgery. The overall incidence is 35 percent, and usually occurs on the first postoperative day, but can occur up to seven days later. Several factors are known to affect the incidence of POV, including age, type of surgery, postoperative care, medications, co-existing diseases, past history of POV, and anesthetic management. Obesity, gastroparesis, female gender, motion sickness, pre-op anxiety, opiod analgesics, and the duration of anesthetic all increase the incidence of POV. POV interferes with oral medication and intake, delays return to normal activity, and increases length of hospital stay. It remains one of the most common causes of unplanned postoperative hospital admissions.
Tonsillectomies:
A child’s tonsils are removed because they are either chronically infected or, as in most cases, enlarged, leading to obstructive sleep apnea. There are several surgical procedures utilized by ear, nose, and throat specialists to remove the tonsils, ranging from use of a scalpel to a wand that emits energy that shrinks the tonsils.
Research conducted by otolaryngologists found that Morbid obesity was a contributing factor for requiring an overnight hospital admission for a child undergoing removal of enlarged tonsils. Most children who were diagnosed as obese with sleep apnea required a next-day physician follow-up.
A study from the University of Texas found that morbidly obese patients have a significant increase of additional medical disorders following tonsillectomy and adenoidectomy for obstructive sleep apnea or sleep-disordered breathing when compared to moderately obese or overweight patients undergoing this procedure for the same diagnosis. On average they have longer hospital stays, a greater need for intensive care, and a higher incidence of the need for apnea treatment of continuous positive airway pressure upon discharge from the hospital. The study found that although the morbidly obese group had a greater degree of sleep apnea, they did benefit from the procedure in regards to snoring, apneic spells, and daytime somnolence.
What you can do
If your child has a weight problem, contract your pediatrician or family physician to discuss the weight’s effect on your child’s health, especially prior to treatment decisions. Second, ask your physician about lifestyle and diet changes that will reduce your child’s weight to a healthy standard.
MS in Blacks Linked to Low Vitamin D Climate and geography may play a role in low levels, study suggests
MS in Blacks Linked to Low Vitamin D
Climate and geography may play a role in low levels, study suggests
By Mary Elizabeth Dallas
TUESDAY, May 24 (HealthDay News) -- Black people with multiple sclerosis are more likely to have vitamin D deficiencies than blacks who don't have the disease, a new study shows.
The study, published in the May 24 issue of the journal Neurology, also said the deficiency is due primarily to differences in climate and geography.
"MS is not as common in African-Americans as it is in whites, although the disease tends to be more severe in African-Americans," study author Dr. Ari J. Green, of the University of California, San Francisco, said in an American Academy of Neurology news release.
"We have known that vitamin D levels are associated with MS and that African-Americans are at increased risk for having low vitamin D levels, but little research has been done to look at vitamin D levels in African-Americans with MS," he said.
The study involved 339 people with MS and 342 people who did not have the disease. Researchers analyzed the blood vitamin D levels and the severity of the disease in each participant.
Since skin pigment acts as a filter of ultraviolet light, hence limiting the amount of vitamin D that can be produced by the body in response to sunlight, researchers also looked at the amount of UV exposure participants likely received based on where they lived, and the proportion of European genetic ancestry of each participant.
Vitamin D deficiency was found in 77 percent of the people with MS, compared to 71 percent of those without the disease. The people with MS were also exposed to a lower monthly UV index (average of 3.8) than those without MS (average of 4.8). Those with MS also lived an average of 1 degree of latitude farther north (about 69 miles) than those without the disease.
The researchers said the findings should open a dialogue between patients and their doctors about how much UV exposure they need, blood testing for vitamin D levels, and whether supplements would be a good choice.
"These findings may provide a mechanism to help explain how genes and the environment interact to produce MS," Green said.
SOURCE: American Academy of Neurology, news release, May 23, 2011
Comparable effectiveness shown for two common sudden deafness treatments NIH-supported investigators see no difference in outcome between oral and injected steroid delivery
Comparable effectiveness shown for two common sudden deafness treatments
NIH-supported investigators see no difference in outcome between oral and injected steroid delivery
Direct injection of steroids into the middle ear for the treatment of sudden deafness was shown to be no more or less effective than oral steroids in restoring hearing levels in a large comparison study of patients. The study results appear in the May 25, 2011 issue of the Journal of the American Medical Association. The multicenter clinical trial was funded by the National Institute on Deafness and Other Communication Disorders (NIDCD), part of the National Institutes of Health. It is the largest treatment trial ever conducted to study the outcomes, over time, of patients with this condition.
"During the past 15 years, there has been an increase in the use of injected steroids as a treatment for sudden deafness, but there were no comparative studies to support the practice," said James F. Battey, Jr., M.D., Ph.D., director of the NIDCD. "This is the first large, randomized clinical trial to compare the two treatments. Its findings—that both are equally effective—will offer more options for doctors so that they can select the treatment that best fits their patients' needs."
There is a large difference in the costs of the two treatments. The cost of a prescription for oral steroids is less than $10, as compared to more than $800 (an average of $200 per injection, according to the Centers for Medicare and Medicaid Services physician fee schedules) for IT treatment.
Sudden sensorineural hearing loss, commonly known as sudden deafness, occurs as an unexplained, rapid loss of hearing—usually in one ear—either at once or over several days. Experts estimate that it strikes 1 person in 5,000 per year, typically in adults between the ages of 43 and 53. The number of new cases each year could be much higher, however, since sudden deafness often goes undiagnosed because many people recover quickly and never seek medical help or they think their hearing loss is due to congestion or earwax blockage.
Since the early 1980s, doctors have prescribed a tapering course of oral corticosteroids (prednisone or methylprednisolone) over a two-week period as the standard of care for sudden deafness.
Recently, intratympanic (IT) corticosteroid treatment by direct injection into the middle ear has gained popularity among otolaryngologists (ear, nose, and throat doctors). IT treatment is thought to offer the advantages of a higher concentration of steroids at the target site and a lower risk for the side effects that accompany systemic steroid use, such as changes in appetite, sleep, or mood; elevation of blood pressure and blood sugar; and stomach irritation. However, IT treatment requires repeated visits to the doctor, and a half-hour rest period after each injection, over a two-week period.
Steven D. Rauch, M.D., a professor of otology at the Massachusetts Eye and Ear Infirmary at Harvard Medical School in Boston, led the study team of clinical investigators in 16 medical centers across the United States. The clinical trial followed more than 250 patients with sudden deafness for six months. The oral treatment group received 60 milligrams of oral prednisone per day for 14 days, followed by a tapering-off period of an additional five days. The IT group received 40 milligrams of methylprednisolone injected through the eardrum, or tympanic membrane, into the middle ear four times over the course of two weeks. Hearing was tested after one and two weeks of treatment, and again at two and six months during follow-up.
Study results showed that IT treatment and oral treatment were equally effective in restoring hearing to study participants. The side effects in the oral treatment group were as expected and manageable. The side effects in the IT group were local—pain at the injection site, a short period of dizziness after the injection, and some instances of perforated eardrum and middle ear infection (otitis media).
"The comfort, cost, and convenience of oral steroid treatment are preferable to IT treatment," says Dr. Rauch, "but injected steroids are an equally effective alternative for people who, for medical reasons, can’t take the oral steroids. People with sudden deafness should discuss the risks and benefits of both treatments with their doctor."
Genes Tied to Severity of Cystic Fibrosis Identified Researchers hope to find way to extend life expectancy for people with this inherited disease
Genes Tied to Severity of Cystic Fibrosis Identified
Researchers hope to find way to extend life expectancy for people with this inherited disease
By Mary Elizabeth Dallas
SUNDAY, May 22 (HealthDay News) -- The severity of cystic fibrosis, a life-threatening hereditary condition that affects the lungs and digestive system, seems to be influenced by genetic variations, researchers have found.
"Most cystic fibrosis patients born today live to their mid-30s, but that's an average. Some succumb to the disease before their 10th birthday, while others live into their 50s and we wanted to know why," Dr. Garry Cutting, a professor of pediatrics and member of the McKusick-Nathans Institute for Genetic Medicine at Johns Hopkins, said in a Hopkins news release.
The study, published online in Nature Genetics, used DNA from 3,467 patients -- including unrelated patients from the Genetic Modifier Study out of the University of North Carolina at Chapel Hill, the Canadian Consortium for Genetic Studies out of the University of Toronto, and related patients and their parents from the CF Twin and Sibling Study at Johns Hopkins.
The researchers hope their findings will help extend the life expectancy of people with the disease. "To achieve this goal, we had to work together as one group," Cutting said.
The investigators from all three studies collaborated and analyzed 600,000 sites of variation within the genome in search of common variations that are more frequently associated with severe cases of cystic fibrosis.
The result: The researchers were able to identify a region encompassed by two genes on chromosome 11 linked to severe cases of the disease. A second region on chromosome 20 was also identified. Continued study of this region revealed five genes that are turned on in respiratory cells, some of which are known to cause inflammation.
"We already know which gene causes cystic fibrosis, but to a large extent that gene does not by itself explain how severe the condition will be," explained Cutting. "Now we've discovered new genes that influence the course of disease and may enable prediction of disease severity and, most importantly, the customization of treatments for patients with unfavorable genetic modifiers -- this is the realization of individualized medicine," he added.
The investigators pointed out that further studies are needed to determine exactly how these genes alter the severity of cystic fibrosis.
"Of course we want to continue to push the median life expectancy up so that hopefully patients with more severe cases of cystic fibrosis will, with multimodal therapy, survive longer. And this is the first step toward developing such therapies for these patients," Cutting concluded.
SOURCE: Johns Hopkins Medicine, news release, May 22, 2011
Daclizumab
While Probing Activity of New Multiple Sclerosis Drug, NIH Researchers Uncover Inner Workings of the Immune System
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Daclizumab
Daclizumab is one of the newest therapies under study for treating multiple sclerosis (MS). It quiets the abnormal immune reactions that occur in people with MS by targeting a single molecule on immune cells. Beyond that, how daclizumab works is largely a mystery. Now, research from the National Institutes of Health has revealed insights not only into the drug's effects, but into the basic biology of the immune system.
The work was led by Bibiana Bielekova, M.D., an investigator at NIH's National Institute of Neurological Disorders and Stroke (NINDS). She and her colleagues have been testing how daclizumab affects the immune cell responses of people with MS and healthy volunteers. Their latest findings are reported in Nature Medicine.*
In MS, the immune system attacks the brain and spinal cord, typically leading to fatigue, weakness, and a loss of vision and other sensations. The disorder affects approximately 400,000 people in the U.S.
Daclizumab is based on a molecule first developed in the lab of Thomas A. Waldmann, M.D., a senior investigator in the Metabolism Branch at NIH's National Cancer Institute (NCI). It is approved in the U.S. for preventing organ transplant rejection, and for several years, Drs. Waldmann and Bielekova have collaborated to study its potential for treating MS.
In two small trials, the NIH team found that daclizumab given in combination with the MS drug interferon-beta reduced the number of new lesions (areas of damage) in the brain. Just last year, a team based at University of Utah reported the results of the large, placebo-controlled CHOICE study. The study confirmed that using daclizumab as an add-on therapy helped patients whose symptoms had relapsed while they were taking interferon-beta.
Meanwhile, the NIH team is steadily unraveling how daclizumab works. Such research may help to predict how patients will respond to the drug, and to generate more potent derivatives. The drug is known to interfere with interleukin-2 (IL-2), a key signal that mobilizes immune cells to attack. However, the researchers are discovering that IL-2 signaling involves a surprisingly complex, intimate dance between immune cells. Their findings have relevance beyond MS, to a more general understanding of how the immune system functions in health and disease.
"It is difficult to study the human immune system under natural conditions. People are exposed to bacteria, viruses and other pathogens all the time, and they activate different immune cells in response. This makes it nearly impossible to sort out potentially subtle differences in the immune system of healthy individuals from those with a disease," said Dr. Bielekova. "A drug like daclizumab gives us a rare opportunity to study the immune system because it targets a single molecule, and we can measure what the immune system is doing before and after treatment."
One function of IL-2 is to activate T cells, which are the mobile infantry of the immune system. When the body is under siege by an infection, IL-2 serves as a clarion call for the T cell army to expand and attack. In MS and other so-called autoimmune diseases, for reasons that are not clear, T cells launch a misguided attack against the body's own tissues.
Daclizumab blocks the IL-2 receptor, which is found on T cells and other cell types. The drug specifically targets a piece of the receptor called CD25. When daclizumab was first tested against MS, researchers theorized that it was acting directly on T cells, shutting off their IL-2 receptors. However, in two recent studies, the NIH team found that daclizumab's effects on T cells are mostly indirect.
In a previous study, they found that daclizumab stimulates cells called natural killer cells, which in turn suppress T cells. That study was done by analyzing blood samples from MS patients who were taking daclizumab in clinical trials at NIH. Patients with the highest activation of natural killer cells had the most benefit from daclizumab, suggesting that a blood test for natural killer cells may serve as a good indicator of how patients are responding to the drug.
The NIH team also found a unique patient who benefited from daclizumab without the natural killer cell response. This prompted the researchers to investigate other effects of the drug. In Nature Medicine, they report that in addition to its effects on natural killer cells, daclizumab blocks CD25 on dendritic cells, whose job it is to prime T cells for battle by presenting them with a target (or antigen). They also discovered that CD25 is the key to an intricate maneuver that takes place between T cells and dendritic cells.
Just as people are born with innate talents and skills, T cells are born to recognize specific antigens. When a dendritic cell encounters an antigen, such as a piece of virus, its task is to activate the matching T cell, causing the cell to multiply and produce an army of clones.
Dr. Bielekova and her colleagues found that IL-2 and CD25 produced by dendritic cells are essential to this activation process. The findings show that when a dendritic cell finds the right T cell, it activates the T cell by releasing IL-2 at the site of contact. Meanwhile, the dendritic cell also simultaneously "lends" the T cell its CD25, because prior to activation, the majority of T cells do not have their own CD25. While the two cell types are in close contact, the CD25 connects with other components on the T cell surface and is assembled into a complete IL-2 receptor.
"This mechanism allows the dendritic cell to restrict the IL-2 signal only to the T cell that reacts to the right antigen," explains Dr. Bielekova. "This is an incredibly intimate type of crosstalk between the two cell types."
These findings could have relevance for how MS and other autoimmune diseases begin in the first place. With further study of the interleukin system and how it activates T cells, researchers may be able to discern why some T cells go rogue. Indeed, subtle genetic differences in CD25 and IL-2 have been observed in patients with autoimmune diseases.
- By Daniel Stimson, Ph.D.
Treating Back Pain May Reverse Its Impact on Brain Abnormalities caused by chronic pain improve when patients get relief, study finds
Treating Back Pain May Reverse Its Impact on Brain
Abnormalities caused by chronic pain improve when patients get relief, study finds
By Robert Preidt
FRIDAY, May 20 (HealthDay News) -- Treating chronic lower back pain can reverse pain-related changes in brain activity and function, according to a new study.
Prior research has shown that people with chronic pain may experience cognitive problems and reduced gray matter in brain areas that play a role in pain processing and the emotional aspects of pain, such as anxiety and depression. But it wasn't clear if treating chronic pain could reverse those brain changes.
This study included patients who had lower back pain for more than six months and underwent either spinal injections or spinal surgery to treat the pain. MRI scans of the patients' brains were conducted before and six months after their procedures.
"When they came back in, we wanted to know whether their pain had lessened and whether their daily lives had improved. We wanted to see if any of the pain-related abnormalities found initially in the brain had at least slowed down or been partially reversed," study senior author Laura S. Stone, of the Alan Edwards Center for Research on Pain at McGill University in Montreal, said in a university news release.
Brain activity and function did show signs of recovery in the patients after treatment, the researchers found.
The study was published May 17 in the Journal of Neuroscience.
"If you can make the pain go away with effective treatment, you can reverse these abnormal changes in the brain," she said.
SOURCE: McGill University, news release, May 17, 2011
Your Child's Safety
Your Child's Safety
Your child may need some help staying safe.
Read this page for tips on keeping your child safe. Click on the links or scroll down to see how you can keep your child safe.
Plan ahead
Fire safety
Water safety
Be street smart
Sign safety
Stay away from strangers
Internet safety
Plan ahead
Have a communication plan ready in case there's an emergency:
Make sure your child knows who to call and how in case of an emergency.
Talk about how to contact an interpreter if your child needs one.
Make sure your child carries a card with emergency numbers with him at all times.
Make sure your child's school, coaches, and child care providers know how to reach you.
Prepare an emergency kit with water, flashlights, hearing aid batteries, and other things your child may need.
Make sure your home is safe inside and outside.
Practice the plan with your family.
Teach your child to be independent.
Fire safety
Use fire alarms in your home that flash lights and are sound activated.
Check your alarms once a month or more to make sure they're working.
Plan escape routes ahead of time. Talk about what to do in case of a fire.
Think of ways to communicate to your child that there's a fire.
Water safety
Ask your township for an interpreter for your child's swimming lessons.
Make sure there's a way your child can communicate with the lifeguard on duty.
Talk to your child about how hearing aids and cochlear implants won't work in the water.
Be street smart
Kids think that if they can see a car, the driver can see them. They also have trouble understanding how fast a car is going. Your child may not hear the sounds of cars coming towards her. Teach your child to be street smart:
Stop at the curb and look in all directions before you cross the street.
Cross at corners using traffic signals and crosswalks if you live in a city.
Never walk into the street from behind a car, tree, or large object.
Never run into a street without stopping, even for a ball or your dog!
Walk or ride a bike facing traffic, so you can see cars coming towards you.
Watch for cars that are turning or backing up.
Pay attention to others and watch when they move out of the way.
Carry a flashlight when it's dark.
Wear bright clothing.
Use reflective lights on your bike.
Sign safety
Some parents of kids with hearing loss choose to have a sign put up on their street that says: "Caution Deaf Child" or "Deaf Children at Play." If drivers see this sign, they may slow down or be more alert.
Other parents choose not to use these signs because they want to protect their child's privacy. They worry about what may happen if others find out their child is deaf.
Stay away from strangers
Never leave your young child alone anywhere - not in a car, home, or public place.
Make sure your child learns her address very early, and can tell people how to get in touch with you in an emergency.
Teach your child how to make a collect phone call on the TTY or TDD, and to say or type, "I need help."
Don't let your child wear clothing or other things with her name on it.
Make sure your child knows to scream and run from anyone who is trying to grab or hurt her.
Practice with a friend your child does not know. Ask your friend to grab your child or try to get her to go somewhere with him.
Tell your child to always let you know right away if a stranger asks her for help, gives her candy or gifts, or scares her in any way.
Teach your child to use mirrors and windows on buildings to watch her reflection and see who's behind her.
Read more Child Safety Tips.
If you think your child is missing:
Try to stay calm.
Ask your neighbors, family, and friends if anyone knows where your child is or if they've seen her.
Check in places where your child may not be able to hear you well.
Call your city's emergency hotline and file a missing persons report. Find out what the TTY/TDD number is for 9-1-1 from your local police station.
Read these tips from Team H.O.P.E.
Internet safety
Never give out personal information, like your child's address, picture, password, or phone number.
Tell your child to let you know right away if she gets any strange messages, emails, or sees something she doesn't like.
Be on the lookout for emails that have different addresses than the ones she usually sends mail to.
Make sure she knows never to promise to meet with someone she met online.
Hearing Problems in Children
Hearing Problems in Children
Most children hear and listen from the moment they are born. They learn to talk by imitating the sounds around them and the voices of their parents and caregivers. But not all children - about 2 or 3 out of every 1,000 children in the U.S. are born deaf or hard-of-hearing. More lose their hearing later during childhood.
Babies should have a hearing screening before they are a month old. If your child has hearing loss, it is important to consider the use of hearing devices and other communication options by age 6 months, because children start learning speech and language long before they talk.
Hearing problems can be temporary or permanent. Sometimes, ear infections, injuries or diseases affect hearing. If your child does not hear well, get help.
NIH: National Institute on Deafness and Other Communication Disorders
CDC Assesses Potential Human Exposure to Prion Diseases
CDC Assesses Potential Human Exposure to Prion Diseases
Philadelphia, PA, May 23, 2011 – Researchers from the Centers for Disease Control and Prevention (CDC) have examined the potential for human exposure to prion diseases, looking at hunting, venison consumption, and travel to areas in which prion diseases have been reported in animals. Three prion diseases in particular – bovine spongiform encephalopathy (BSE or “Mad Cow Disease”), variant Creutzfeldt-Jakob disease (vCJD), and chronic wasting disease (CWD) – were specified in the investigation. The results of this investigation are published in the June issue of the Journal of the American Dietetic Association.
“While prion diseases are rare, they are generally fatal for anyone who becomes infected. More than anything else, the results of this study support the need for continued surveillance of prion diseases,” commented lead investigator Joseph Y. Abrams, MPH, National Center for Emerging and Zoonotic Infectious Diseases, CDC, Atlanta. ”But it’s also important that people know the facts about these diseases, especially since this study shows that a good number of people have participated in activities that may expose them to infection-causing agents.”
Although rare, human prion diseases such as CJD may be related to BSE. Prion (proteinaceous infectious particles) diseases are a group of rare brain diseases that affect humans and animals. When a person gets a prion disease, brain function is impaired. This causes memory and personality changes, dementia, and problems with movement. All of these worsen over time. These diseases are invariably fatal. Since these diseases may take years to manifest, knowing the extent of human exposure to possible prion diseases could become important in the event of an outbreak.
CDC investigators evaluated the results of the 2006-2007 population survey conducted by the Foodborne Diseases Active Surveillance Network (FoodNet). This survey collects information on food consumption practices, health outcomes, and demographic characteristics of residents of the participating Emerging Infections Program sites. The survey was conducted in Connecticut, Georgia, Maryland, Minnesota, New Mexico, Oregon, and Tennessee, as well as five counties in the San Francisco Bay area, seven counties in the Greater Denver area, and 34 counties in western and northeastern New York.
Survey participants were asked about behaviors that could be associated with exposure to the agents causing BSE and CWD, including travel to the nine countries considered to be BSE-endemic (United Kingdom, Republic of Ireland, France, Portugal, Switzerland, Italy, the Netherlands, Germany, Spain) and the cumulative length of stay in each of those countries. Respondents were asked if they ever had hunted for deer or elk, and if that hunting had taken place in areas considered to be CWD-endemic (northeastern Colorado, southeastern Wyoming or southwestern Nebraska). They were also asked if they had ever consumed venison, the frequency of consumption, and whether the meat came from the wild.
The proportion of survey respondents who reported travel to at least one of the nine BSE endemic countries since 1980 was 29.5%. Travel to the United Kingdom was reported by 19.4% of respondents, higher than to any other BSE-endemic country. Among those who traveled, the median duration of travel to the United Kingdom (14 days) was longer than that of any other BSE-endemic country. Travelers to the UK were more likely to have spent at least 30 days in the country (24.9%) compared to travelers to any other BSE endemic country. The prevalence and extent of travel to the UK indicate that health concerns in the UK may also become issues for US residents.
The proportion of survey respondents reporting having hunted for deer or elk was 18.5% and 1.2% reported having hunted for deer or elk in CWD-endemic areas. Venison consumption was reported by 67.4% of FoodNet respondents, and 88.6% of those reporting venison consumption had obtained all of their meat from the wild. These findings reinforce the importance of CWD surveillance and control programs for wild deer and elk to reduce human exposure to the CWD agent. Hunters in CWD-endemic areas are advised to take simple precautions such as: avoiding consuming meat from sickly deer or elk, avoiding consuming brain or spinal cord tissues, minimizing the handling of brain and spinal cord tissues, and wearing gloves when field-dressing carcasses.
According to Abrams, “The 2006-2007 FoodNet population survey provides useful information should foodborne prion infection become an increasing public health concern in the future. The data presented describe the prevalence of important behaviors and their associations with demographic characteristics. Surveillance of BSE, CWD, and human prion diseases are critical aspects of addressing the burden of these diseases in animal populations and how that may relate to human health.”
Health Tip: Recognize the Signs of Food Allergy Symptoms of a reaction By Diana Kohnle
Health Tip: Recognize the Signs of Food Allergy
Symptoms of a reaction
By Diana Kohnle
(HealthDay News) -- Food allergy reactions range from mild to life-threatening, depending on the person.
The Nemours Foundation says common warning signs of a milder allergic reaction to food may include:
A tight feeling in the throat, or a hoarse voice.
Coughing and wheezing.
Nausea, vomiting or stomach pain.
Diarrhea.
Hives or skin rash.
A tingling sensation on the lips or tongue.
Runny nose.
In more serious cases, food allergy may cause a severe reaction called anaphylaxis, which may cause a person's breathing pathways to narrow, blood pressure to drop, and tongue to swell. This should be treated as a life-threatening medical emergency.
Fact Sheet: Pediatric Obesity and Ear, Nose, and Throat Disorders
Fact Sheet: Pediatric Obesity and Ear, Nose, and Throat Disorders
Today in the United States, studies estimate that 34 percent of U.S. adults are overweight and an additional 31 percent (approximately 60 million) are obese. Combined, approximately 127 million Americans are overweight or obese. Some 42 years ago, 13 percent of Americans were obese, and in 1980 15 percent were considered obese.
Alarmingly, the number of children who are overweight or obese has doubled in the last two decades as well. Currently, more than 15 percent of 6- to 11-year-olds and more than 15 percent of 12- to 19-year-olds are considered overweight or obese.
What is the difference between designated “obese” versus “overweight?”
Unfortunately, the words overweight and obese are often interchanged. There is a difference:
Overweight: Anyone with a body mass index (BMI) (a ratio between your height and weight) of 25 or above (e.g., someone who is 5-foot-4 and 145 pounds) is considered overweight.
Obesity: Anyone with a BMI of 30 or above (e.g., someone who is 5-foot-4 and 175 pounds) is considered obese.
Morbid obesity: Anyone with a BMI of 40 or above (e.g., someone who is 5-foot-4 and 233 pounds) is considered morbidly obese. "Morbid" is a medical term indicating that the risk of obesity related illness is increased dramatically at this degree of obesity.
Obesity can present significant health risks to the young child. Diseases are being seen in obese children that were once thought to be adult diseases. Many experts in the study of children’s health suggest that a dysfunctional metabolism, or failure of the body to change food calories to energy, precedes the onset of disease. Consequently, these children are at risk for Type II Diabetes, fatty liver, elevated cholesterol, SCFE (a major hip disorder), menstrual irregularities, sleep apnea, and irregular metabolism. Additionally, there are psychological consequences; obese children are subject to depression, loss of self-esteem, and isolation from their peers.
Pediatric obesity and otolaryngic problems
Otolaryngologists, or ear, nose, and throat specialists, diagnose and treat some of the most common children’s disorders. They also treat ear, nose, and throat conditions that are common in obese children, such as:
Sleep apnea:
Children with sleep apnea literally stop breathing repeatedly during their sleep, often for a minute or longer, usually ten to 60 times during a single night. Sleep apnea can be caused by either complete obstruction of the airway (obstructive apnea) or partial obstruction (obstructive hypopnea—hypopnea is slow, shallow breathing), both of which can wake one up. There are three types of sleep apnea—obstructive, central, and mixed. Of these, obstructive sleep apnea (OSA) is the most common. Otolaryngologists have pioneered the treatment for sleep apnea; research shows that one to three percent of children have this disorder, often between the age of two-to-five years old.
Enlarged tonsils, which block the airway, are usually the key factor leading to this condition. Extra weight in obese children and adults can also interfere with the ability of the chest and abdomen to fully expand during breathing, hindering the intake of air and increasing the risk of sleep apnea.
The American Academy of Pediatrics has identified obstructive sleep apnea syndrome (OSAS) as a “common condition in childhood that results in severe complications if left untreated." Among the potential consequences of untreated pediatric sleep apnea are growth failure; learning, attention, and behavior problems; and cardio-vascular complications. Because sleep apnea is rarely diagnosed, pediatricians now recommend that all children be regularly screened for snoring.
Middle ear infections:
Acute otitis media (AOM) and chronic ear infections account for 15 to 30 million visits to the doctor each year in the U.S. In fact, ear infections are the most common reason why an American child sees a doctor. Furthermore, the incidence of AOM has been rising over the past decades. Although there is no proven medical link between middle ear infections and pediatric obesity there may be a behavioral association between the two conditions. Some studies have found that when a child is rubbing or massaging the infected ear the parent often responds by offering the child food or snacks for comfort.
When a child does have an ear infection the first line of treatment is often a regimen of antibiotics. When antibiotics are not effective, the ear, nose and throat specialist might recommend a bilateral myringotomy with pressure equalizing tube placement (BMT), a minor surgical procedure. This surgery involves the placement of small tubes in the eardrum of both ears. The benefit is to drain the fluid buildup behind the eardrum and to keep the pressure in the ear the same as it is in the exterior of the ear. This will reduce the chances of any new infections and may correct any hearing loss caused by the fluid buildup.
Postoperative vomiting (POV) is a common problem after bilateral myringotomy surgery. The overall incidence is 35 percent, and usually occurs on the first postoperative day, but can occur up to seven days later. Several factors are known to affect the incidence of POV, including age, type of surgery, postoperative care, medications, co-existing diseases, past history of POV, and anesthetic management. Obesity, gastroparesis, female gender, motion sickness, pre-op anxiety, opiod analgesics, and the duration of anesthetic all increase the incidence of POV. POV interferes with oral medication and intake, delays return to normal activity, and increases length of hospital stay. It remains one of the most common causes of unplanned postoperative hospital admissions.
Tonsillectomies:
A child’s tonsils are removed because they are either chronically infected or, as in most cases, enlarged, leading to obstructive sleep apnea. There are several surgical procedures utilized by ear, nose, and throat specialists to remove the tonsils, ranging from use of a scalpel to a wand that emits energy that shrinks the tonsils.
Research conducted by otolaryngologists found that Morbid obesity was a contributing factor for requiring an overnight hospital admission for a child undergoing removal of enlarged tonsils. Most children who were diagnosed as obese with sleep apnea required a next-day physician follow-up.
A study from the University of Texas found that morbidly obese patients have a significant increase of additional medical disorders following tonsillectomy and adenoidectomy for obstructive sleep apnea or sleep-disordered breathing when compared to moderately obese or overweight patients undergoing this procedure for the same diagnosis. On average they have longer hospital stays, a greater need for intensive care, and a higher incidence of the need for apnea treatment of continuous positive airway pressure upon discharge from the hospital. The study found that although the morbidly obese group had a greater degree of sleep apnea, they did benefit from the procedure in regards to snoring, apneic spells, and daytime somnolence.
What you can do
If your child has a weight problem, contract your pediatrician or family physician to discuss the weight’s effect on your child’s health, especially prior to treatment decisions. Second, ask your physician about lifestyle and diet changes that will reduce your child’s weight to a healthy standard.
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