Health Updates 5 April 2012

  • Scientists link gene mutation to autism risk: “Teams of scientists working independently have for the first time identified several gene mutations that they agree sharply increase the chances that a child with develop autism.  They have found further evidence that the risk increases with the age of the parents, particularly in fathers over age 35.  The gene mutations are extremely rare and together account for a tiny fraction of the autism cases — in these studies, only a handful of children.  Experts said the new research gave scientists something they had not had: a clear strategy for building some understanding of the disease’s biological basis.  Scientists have been debating the relative influence of inherited risk and environmental factors in autism for decades, and few today doubt that there is a strong genetic component.  But biologists have groped in vain for a reliable way to clarify the underlying genetics of these so-called autism spectrum disorders, including Asperger syndrome and related social difficulties that are being diagnosed at alarmingly high rates – on average, in one in 88 children, according to a government estimate released last week.  Previous studies have produced a scattering of gene findings but little consensus or confidence in how to proceed.  The new research — reported in three papers posted online on Wednesday in the journal Nature — provides some measure of both, some experts said.” (Benedict Carey, NY Times)
  • Abuse of OTC drug mimics kidney stones: “Nephrolithiasis caused by an abuse of an over-the-counter drug used to treat excess mucus may mimic kidney disorders, a researcher said here [San Diego].  In a poster presentation at the annual meeting of the Society of Hospital Medicine, Nail Shah, MD, of Tulane University in New Orleans, and colleagues presented a case they called ‘Not Quite the Rolling Stones’.” In the case in question, a 42-year-old woman came to their clinic with left flank pain that had been present for about a year, but had worsened considerably over the past three days.  After extensive testing, it was finally found that she had atypical stones, not composed of the usual substances such as calcium oxalate.  After questioning, she revealed that she had been taking Mucinex D, 3 to 4 grams daily, as a legal way of getting high.  With treatment, she recovered. “‘There is a lot of over-the-counter medicine abuse going on now,’ Shah told Medpage Today.  In the acute setting, clinicians need to learn exactly what patients are taking, including herbal supplements and cold remedies, he advised.  ‘She wasn’t trying to hide the fact that she was taking the medication — we just weren’t asking the right questions,’ he said.” (Nancy Walsh, MedPage Today)
  • New lupus genes identified: “Three new genes linked to the chronic autoimmune disease lupus have been identified by an international team of researchers. The analysis of more than 17,000 genetic samples from people of several ethnic groups also pinpointed another 11 genetic regions that may be related to lupus and require further study….The researchers said their findings, which appear in the April 6 issue of the American journal of Human Genetics, show that the genes that cause lupus aren’t always universal.  The next step is to study the three genes to find out exactly what role they play in lupus….Lupus affects about 1.5 million Americans, and about 90 percent of patients are women.  The disease causes the immune system to become overactive and attack the body’s own cells.  Symptoms include fatigue, fever, rashes and joint pain.” (HealthDay)
  • Study: No added cancer risk from hip replacement materials: “People with metal-on-metal hip replacements do not have an increased risk of cancer during the first seven years after they receive the device, according to a new study.  However, a longer-term study should be done, researchers at the Universities of Bristol and Exeter in the UK report.  They examined data from the National Joint Registry of England and Wales, which contains records on more than 1 million hip replacement procedures.  The researchers compared cancer rates in patients with metal-on-metal hip replacements, patients with hip replacements made with other materials, and the general population.  The chance of a 60-year-old man with moderate health and a metal-on-metal stemmed hip replacement being diagnosed with cancer in the five years after surgery was 6.2 percent, compared to 6.7 percent with a hip replacement made  with other materials.  For women, the risk was 4 percent for a metal-on-metal stemmed hip replacement and 4.4 percent for a hip replacement made with other materials.  The researchers also found that the incidence of cancer is low after hip replacement and lower than that predicted for age- and sex-matched people in the general population.” (MedlinePlus)

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