Tag Archives: medicine

Early puberty may be caused by gene mutation

When a child enters puberty earlier than expected, doctors are often at a loss to explain why. But now, researchers have discovered a genetic mutation that they say causes some cases of early puberty. In the study, the researchers in Brazil screened the genomes of 32 people with early puberty from 15 families. (Some cases of early puberty run in families.) Mutations in a gene called MKRN3 were found in 15 people from five of the families. In all of these cases, the mutated MKRN3 gene was inherited from the father, the researchers said. Early puberty, also called precocious puberty, is puberty that occurs before age 8 in girls, or age 9 in boys. Some cases are caused by brain tumors or thyroid problems, but in many cases, a cause is not identified. The average age of puberty onset for those with mutations in the MKRN3 gene was about age 6 for girls, and age 8 for boys. It's not clear exactly how MKRN3 plays a role in puberty, but it may be involved in releasing the “brake” that normally prevents puberty from starting, Dr. Ieuan Hughes, of Cambridge University in the United Kingdom, wrote in an editorial accompanying the study. Puberty begins when the brain starts producing higher levels of a hormone called gonadotropin-releasing hormone. Mutations in the MKRN3 gene may trigger an increase in levels of this hormone at an earlier age, the researchers said. To further investigate the role of MKRN3 in puberty, the researchers studied the brains of mice. They found that levels of MKRN3 gene expression were highest when the mice were young, and reached a low point at the start of puberty, which provides more evidence to tie this gene to puberty. The study is published online June 5 in the New England Journal of Medicine. Copyright 2013 LiveScience, a TechMediaNetwork company. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.source : http://www.foxnews.com/health/2013/06/06/early-puberty-may-be-caused-by-gene-mutation/

Group therapy helps rape victims in poor countries

Group therapy works better than individual support for women in low-income countries who have been victims of sexual violence, according to the results of a new study done in the Democratic Republic of Congo (DRC). The method has already been shown to be effective in wealthier countries. Because measures of depression, anxiety, general functioning and post-traumatic stress disorder improved faster with group therapy, the technique may be useful in other countries were war and unrest often contribute to sexual violence, researchers reported in the New England Journal of Medicine. “We're giving them the skills to rethink the meaning they're giving to their thoughts and feelings” about their attack, lead author Judith Bass of the Johns Hopkins Bloomberg School of Public Health in Baltimore told Reuters Health. The study “offers promising evidence” that a form of group therapy can help women who have been exposed to sexual violence, Charlotte Watts and her colleagues at the London School of Hygiene and Tropical Medicine wrote in a linked editorial. In the DRC, 40 percent of women have been victims of some type of sexual violence. The researchers evaluated 157 women in seven villages who were offered one individual session and 11 group sessions of so-called cognitive processing therapy. “The women were being taught to identify what thoughts are not helpful to them,” Bass explained. “Thinking 'It's my fault' is not helpful to them. And it involves how to deal with that and get over some of these thoughts that are keeping them from healing.” Those women were compared with 248 women in eight villages who received individual support that included counseling and sympathetic listening. Women in both treatment groups improved even though each village had at least one major security incident during the trial, including attacks and armed robberies. But the improvement was most pronounced with group cognitive therapy. On a combined scale of depression and anxiety, where the worst score was 3 and the best was 0, women in the cognitive therapy group went from 2.0 at the outset to 0.8 at the end of treatment. Six months after treatment their average score was 0.7. The respective scores for women receiving individual support started at 2.2, dropped to 1.7 and eventually fell to 1.5. After six months, 9 percent of group therapy participants and 42 percent of women who received individual support still likely had a diagnosis of depression or anxiety, Bass and her colleagues found. The study did not include the most severe cases - seven of the 494 women screened for the study were found to be severely suicidal and were treated immediately. “Despite illiteracy and ongoing conflict, this evidence-based treatment can be appropriately implemented and effective,” the researchers concluded. “Given the high rates of sexual violence globally, and especially in conflict-affected countries such as the DRC, this finding is very important,” the Watts team wrote in its editorial. “Rape during war is not unique to the DRC; indeed, it affects many, if not most, countries that are at war, including several African states and, more recently, countries in the Middle East.” The study was funded by the World Bank and the U.S. Agency for International Development Victims of Torture Fund. “We do this because we see mental health as such a large cause of disability and dysfunction,” Bass said. “We want to improve people's health. But when you have such high rates of rape and violence, and such a high rate of mental health problems, it's an often-neglected piece in the bigger development picture.”source : http://www.foxnews.com/health/2013/06/06/group-therapy-helps-rape-victims-in-poor-countries/

Metastatic breast cancer study shows success in finding new treatment

The Side-Out Foundation’s pilot study is part of a cutting-edge approach to personalized medicine that looks beyond genomic analysis alone to combine it with what some say is the next frontier in targeted therapy: proteomics. The pilot study is the first of its kind to utilize novel protein activation mapping technology along with the genomic fingerprint of cancer as a way to find the most effective treatment. The trial was announced at the annual meeting of the American Society of Clinical Oncology and is expected to expand into phase two this month. Standard chemotherapy had failed the 25 women who participated in the 2.5-year pilot study, says study co-author Emanuel "Chip" Petricoin, co-director of George Mason’s Center for Applied Proteomics and Molecular Medicine (CAPMM)…

Genomics and particle physics top the scientific charts

Genomics and particle physics - offering different perspectives on the fundamental nature of life and the cosmos - are the two hottest areas of scientific research. Eight of the 21 most closely followed scientists in 2012 studied genes and their functions, while the single most-cited paper last year covered the hunt for the long-sought Higgs boson particle, according to a Thomson Reuters survey on Wednesday. It was the third year in a row in which genomics researchers topped the rankings, in terms of authoring the most highly cited scientific papers, underscoring the central importance of genetics in biological science and medicine. “Genomics is a perennially hot topic as we learn more about how (DNA) sequences play out in the manifestation of disease,” said Christopher King, editor of Thomson Reuters ScienceWatch, which tracks trends in research. The relevance of the work in genomics was evident this week at the American Society of Clinical Oncology (ASCO) congress in Chicago, where key advances in cancer medicine on display hinged on understanding the genetic basis of tumors. The world's “hottest” researcher, as measured by the number of citations during 2012 for papers published between 2010 and 2012, was Richard Wilson at the Washington University School of Medicine, the survey showed. Wilson's laboratory was the first to sequence the genome of a cancer patient and discover genetic signatures related the development of disease. Formation of the universe Other hot genomics researchers on the list included Eric Lander of the Broad Institute of MIT at Harvard and Kari Stefansson, the founder of Icelandic biotech company Decode Genetics, which was acquired last December by Amgen. Papers related to the search for the Higgs boson accounted for nearly one fifth of the 51 papers published in the 2012 hottest research list. The boson and its linked energy field are viewed by physicists as vital in the formation of the universe and in giving mass to matter. No single scientists working on the Higgs particle, however, were identified in the rankings because of the highly collaborative nature of the particle physics research, with some papers involving upwards of 3,000 authors. Scientists working on the ATLAS experiment at the Large Hadron Collider at CERN, the European Organisation for Nuclear Research, outside Geneva received an honorable mention as a group. The survey also highlighted the growing importance of Chinese research in a number of fields, with institutions in the country producing four of the 21 hottest researchers, including Jun Wang from the Beijing Genomics Institute. “When you look at the quantity of papers published by various nations, China has sky-rocketed in the last few years,” said King. “That hasn't necessarily been commensurate with impact in the literature, as measured by citations, but this seems to be starting to change.”source : http://www.foxnews.com/health/2013/06/05/genomics-and-particle-physics-top-scientific-charts/

Statins linked to muscle pain, sprains

Cholesterol-lowering drugs could be tied to more muscle problems than researchers previously believed, a new study hints. Researchers compared two groups of similar people enrolled in military health insurance and found those taking a statin were about 10 percent more likely to have muscle pain, sprains or strains. Past studies have tied the popular cholesterol drugs to muscle weakness as well as the rare muscle-wasting disease rhabdomyolysis. The new study expands on those findings and suggests the muscle-related side effects of statins might be broader, researchers said. However, they don't prove statins caused the pain and injuries seen among some patients. “I would strongly recommend that no one should stop taking statins based on this study… simply because statins have been life-saving for many patients,” said the study's lead researcher, Dr. Ishak Mansi. However, he said side effects including muscle injuries are something to think about for people who are discussing with their doctor whether they really need to be on a statin. And they're another reason to try to maintain a healthy lifestyle - including exercising and not smoking - to avoid needing drugs in the first place, he added. Mansi, from the VA North Texas Health Care System in Dallas, and his colleagues compared the health records of two groups of patients who were the same age and had the same types of medical conditions. People in one group had been prescribed a statin in late 2004 and 2005; those in the other group never took statins during the study period. The researchers tracked the medical records of each of those patients - about 14,000 in total - through early 2010 for signs of muscle problems. They found 87 percent of statin users had some type of muscle or joint problem - including arthritis and muscle injuries - compared to 85 percent of people who didn't take a statin. Strains, sprains and dislocations, in particular, were reported for 35 percent of people on a statin, compared to 32.5 percent of those not taking a cholesterol-lowering drug. And medical records showed muscle pain among 73.5 percent of statin users, versus 71.5 percent of non-users, Mansi's team reported in JAMA Internal Medicine. Mansi said those proportions are a bit higher than usual both in the statin and non-statin groups - possibly because his study included military members and veterans, who are more likely to get injured. The researchers calculated that 37 people would have to be treated with statins for one more to have a muscle strain or sprain, and 58 people for one more case of muscle or joint pain. About one-quarter of U.S. adults aged 45 and older take statins to protect against heart attacks and strokes. The drugs are especially recommended for people with diabetes or a history of cardiovascular problems. Dr. Paul Thompson, chief of cardiology at Hartford Hospital in Connecticut, said his own research suggests about 5 percent of people will have muscle problems related to statin use. “We think it's a much bigger problem than it's given credit for,” Thompson, who wasn't involved in the new study, said. However, he said, those muscle problems don't seem to be permanent. “I encourage people to not worry about the possibilities of muscle troubles,” he said. “If they get muscle troubles, we'll stop the drug, and it will go away.” Mansi agreed that people “don't need to be excessively worried” about muscle pain or injuries tied to statins, but that they're something to consider. “Patients need to discuss with their doctors the benefit-risk ratio of statins for them specifically,” he said.source : http://www.foxnews.com/health/2013/06/05/statins-linked-to-muscle-pain-sprains/

Secretary Sebelius, stop hiding behind bureaucratic rules and save a child’s life

Many are calling on Health and Human Services Secretary Kathleen Sebelius to allow Sarah Murnaghan, a 10-year-old girl dying of cystic fibrosis, to be allowed on the adult organ transplant list.  According to current federal policy, the minimum age for her to be included on the list is 12. Currently, Sarah cannot receive an adult lung transplant until the available organs are offered to adult patients first. Of course, Secretary Sebelius could always make an exception by allowing this girl to be put on the transplant list.  Exceptions to federal regulations are made every day by the Department of Health and Human Services, whether you’re talking about the use of non-FDA approved drugs to treat cancer or the use of new technical equipment for surgical therapies. In this specific case, however, we’re talking about saving a child whose only hope is to compete among other patients for a transplant.  It is a perfect example of how rules are sometimes meant to be changed – or broken completely – especially when you’re talking about saving a person’s life. Secretary Sebelius has only ordered a revision of the policy, which could take a lengthy amount of time – something Sarah does not have.  To me, this shows lack of leadership and, certainly, lack of compassion.  Doctors and nurses make instant decisions when it comes to helping others in need, and I believe that someone who is in charge of the largest health care agency on the planet should have a more proactive approach when dealing with these kinds of emergency situations. The field of medicine has changed dramatically when it comes to the surgical techniques that transplant surgeons use.  From minimally invasive therapy to partial organ transplants, new technical miracles continue to develop. Therefore, the argument that an adult organ may not be usable in a 10-year-old is no longer valid, and certainly open for discussion in our clinical community.  As reports have told us, Sarah’s surgeons do agree that in her case, an adult transplant just might work. The rule not allowing a child to be eligible for a transplant from an adult organ until the age of 12 is archaic, and it should not have taken a case like this for Secretary Sebelius – whose tenure has lasted for the past four years – to ask for a revision today. I agree with many who have said that this child is a victim of age discrimination.  But I also agree that Sarah has been ignored by our federal health leaders and has been placed in a bureaucratic Neverland.source : http://www.foxnews.com/health/2013/06/04/secretary-sebelius-stop-hiding-behind-bureaucratic-rules-and-save-childs-life/

Sunscreen slows skin aging, study shows

Though you may rely on anti-wrinkle creams packed with antioxidants and cosmeceuticals to keep your skin looking young, a new study suggests that you may be better off smoothing on sunscreen.   This is the first large study, published in the Annals of Internal Medicine, to demonstrate that sunscreen not only slows skin aging, but may also reverse it.  Researchers compared photoaging in 900 men and women from Australia over a four year period between 1992 and 1996. Photoaging is associated with coarser and slack skin, increased wrinkling and dryness, an increase in visible small blood vessels and white and blackheads on the face. The adults, who were all under age 55, were randomly assigned to two groups. One group was told to apply an SPF 15+ sunscreen every day. They were instructed to apply it to their head, neck, arms and hands every morning, and to reapply after heavy sweating, swimming, or spending more than a few hours outdoors. A second group could use sunscreen at their discretion. The adults were also randomized to take either a B-carotene supplement, which some believe protects against photoaging, or a placebo supplement. Their skin was assessed at the start and finish of the study.   By the end of the study, 77 percent of the participants told to use sunscreen every day were applying sunscreen at least 3 to 4 days per week, compared to 33 percent of discretionary users. Compared with discretionary sunscreen users, those assigned to daily sunscreen use were 24 percent less likely to show increased aging. The skin-saving effect of sunscreen was observed in all daily-use participants, regardless of age. At the beginning of the study, 58 percent of participants had moderate photoaging, but by the end of the study, that number dropped to 49 percent, suggesting a decrease in photoaging in some of the participants. There was no difference in photoaging among those taking carotene supplement and those taking the placebo. However, the authors said that they could not rule out a small increase or decrease in skin aging as a result of carotene supplementation. Though it was widely believed that sunscreen could delay aging, there has been little evidence of this until now. Notably, an increase in photoaging is also significantly associated with an increased risk of actinic keratoses (thick patches of skin) and skin cancer. Regularly applying sunscreen can prevent cosmetic changes and may reduce the risk of skin cancer as well, the authors wrote. To protect your face from aging, apply a daily moisturizer with an SPF 15 or greater.Laurie Tarkan is an award-winning health journalist whose work appears in the New York Times, among other national magazines and websites. She has authored several health books, including “Perfect Hormone Balance for Fertility.” Follow her on Twitter and Facebook.source : http://www.foxnews.com/health/2013/06/03/sunscreen-slows-skin-aging-study-shows/

Potential new way to suppress tumor growth discovered

Writing in this week’s online Early Edition of the Proceedings of the National Academy of Sciences (PNAS), Willis X. Li, PhD, a professor in the Department of Medicine at UC San Diego, reports that a particular form of a signaling protein called STAT5A stabilizes the formation of heterochromatin (a form of chromosomal DNA), which in turn suppresses the ability of cancer cells to issue instructions to multiply and grow. Specifically, Li and colleagues found that the unphosphorylated form of STAT promotes and stabilizes heterochromatin, which keeps DNA tightly packaged and inaccessible to transcription factors. …

Merck melanoma drug shrinks tumors in 38 percent of patients

A Merck & Co drug designed to unmask tumor cells and mobilize the immune system into fighting cancer helped shrink tumors in 38 percent of patients with advanced melanoma in an early-stage study, U.S. researchers said on Sunday. Based on the findings about the drug lambrolizumab, published in the New England Journal of Medicine and presented at the American Society of Clinical Oncology meeting in Chicago, Merck says it will move directly into a late-stage clinical trial, which will start in the third quarter. “This is a top priority at Merck,” Dr. Gary Gilliand, senior vice present and head of oncology at Merck Research Laboratories said in a meeting with investors. “We're going flat out to deliver benefit to patients with this novel mechanism.” The moves may heap pressure on market leader Bristol-Myers Squibb, maker of Yervoy - the only approved immune system drug for the treatment of advanced melanoma, the deadliest form of skin cancer. Bristol-Myers is conducting three phase-three studies of its own drug called nivolumab in advanced melanoma, and is studying the drug's effect on a range of other cancers, including lung cancer. Both nivolumab and lambrolizumab are part of a promising new class of drugs that disable programmed death 1 or PD-1, a protein that keeps the immune system from spotting and attacking cancer cells. “Even though it's (lambrolizumab) the second player in the field and even though it's all early, it impressed me,” said Dr. Antoni Ribas of the University of California Los Angeles' Jonsson Comprehensive Cancer Center, the lead author of the study. Last month, the U.S. Food and Drug Administration deemed the treatment a “breakthrough therapy,” a designation FDA cancer drugs chief Dr. Richard Pazdur described as “knock-your-socks-off therapies.” Results of an early-stage study of nivolumab in advanced melanoma released at the cancer meeting showed 31 percent of patients overall responded to different doses of the drug. Among those who took the 3 milligram per kilogram dose, 41 percent of patients responded. The drug response lasted an average of two years, and in many patients the drug kept working even after they stopped taking it. Analysts expect the drugs to generate billions of dollars in sales. Nivolumab alone is forecast to have sales of $1.2 billion in 2017, according to Wall Street analysts tracked by Thomson Reuters Pharma. Merck's study Merck's results are from the first clinical trial of lambrolizumab in advanced melanoma. They are based on analysis of 135 patients with metastatic melanoma who were divided into three groups with different treatment regimens. Overall, lambrolizumab resulted in 38 percent of patients having confirmed improvement of their cancer across all dose levels given after 12 weeks of treatment. But there was a wide range among doses, with only a 25 percent rate among patients who got the lowest dose and 52 percent among those who got the highest dose. In the highest dose group, 10 percent had a complete response, meaning their tumors could not be detected on scans. Side effects were generally mild and included fatigue, fevers, skin rash, loss of skin color and muscle weakness. More severe side effects were seen in 13 percent of patients, including inflammation of the lung or kidney and thyroid problems. “This study is showing the highest rate of durable melanoma responses of any drug we have tested thus far in this cancer, and it is doing it without serious side effects in the great majority of patients,” Ribas said. Merck said it plans to start a late-stage randomized trial of the drug in melanoma and in non-small cell lung cancer in the third quarter of this year. The company recently started a global, randomized mid-stage study of the drug versus standard chemotherapy in patients whose disease had progressed. And it is studying the drug as a treatment for triple negative breast, metastatic bladder and head and neck cancers. Researchers at the meeting marveled at responses to new immune system treatments after decades of failed studies among patients with melanoma. Only about one in five patients respond to Yervoy, approved in 2011 as the first immunotherapy to extend survival in patients with advanced melanoma. Yervoy works by blocking CTLA-4, a different molecule that also keeps the immune system from attacking cancer. Ribas said he has followed one patient on Yervoy for 12 years now. “She's not supposed to be around, and she's alive and well and melanoma free. That is why we've been doing these immunotherapies,” he said. With Yervoy, Ribas said these types of responses were few and far between. With the new PD-1 drugs, they are much more common, with fewer side effects. However, an early-stage Bristol-Myers' study released this month showed that 53 percent of patients who got a combination of Yervoy and nivolumab had at least a 50 percent reduction in tumor size, with fewer side effects. Tim Turnham, executive director of the Melanoma Research Foundation, said combination treatments would make a major difference for patients because they help overcome cancer's “sneaky” ability to evade treatment. But, at this point, he said, “Nobody knows which one is better.”source : http://www.foxnews.com/health/2013/06/03/merck-melanoma-drug-shrinks-tumors-in-38-percent-patients/