http://medicalxpress.com/ en-us Medical Xpress provides the latest news from Massachusetts General Hospital Although a family history of Alzheimer's disease is a primary risk factor for the devastating neurological disorder, mutations in only three genes – the amyloid precursor protein and presenilins 1 and 2 – have been established as causative for inherited, early-onset Alzheimer's, accounting for about half of such cases. Now Massachusetts General Hospital (MGH) researchers have discovered a type of mutation known as copy-number variants (CNVs) – deletions, duplications, or rearrangements of human genomic DNA – in affected members of 10 families with early-onset Alzheimer's. Notably, different genomic changes were identified in the Alzheimer's patients in each family. http://medicalxpress.com/news/2013-06-rare-genomic-mutations-families-early-onset.html Alzheimer's disease & dementia Mon, 17 Jun 2013 12:45:27 EST news290691918 A study from investigators at MassGeneral Hospital for Children (MGHfC) found that African-American or Hispanic children diagnosed with autism were significantly less likely than white children to have received subspecialty care or procedures related to conditions that often accompany autism spectrum disorders. While previous studies have documented that minority children with autism tend to be diagnosed at a later age than white children, this report – which will appear in the July issue of Pediatrics and has been released online – is the first to describe disparities in the use of specialty services in gastroenterology, psychiatry or psychology. http://medicalxpress.com/news/2013-06-racial-ethnic-disparities-usage-specialty.html Autism spectrum disorders Mon, 17 Jun 2013 00:20:01 EST news290626277 most of which could be changed—appear to explain the recognized racial and ethnic disparities in the incidence of childhood overweight and obesity. In a report being published online in JAMA Pediatrics, a team of researchers report a prospective study finding that increased prevalence of obesity and overweight among black and Hispanic 7-year-olds could largely be explained by risk factors such as rapid infant weight gain, early introduction of solid foods and a lack of exclusive breast feeding. http://medicalxpress.com/news/2013-06-early-life-factors-account-racial-ethnic.html Health Mon, 03 Jun 2013 16:00:03 EST news289490658 A 2012 survey of internal medicine residents at Massachusetts General Hospital (MGH) – one of the nation's leading teaching hospitals – found that more than half rated the training they had received in addiction and other substance use disorders as fair or poor. Significant numbers felt unprepared to diagnose or treat such disorders, results similar to surveys of practicing physicians. In response to the findings, recently published online in the journal Substance Abuse, the MGH has increased residents' training in addiction medicine. http://medicalxpress.com/news/2013-05-survey-deficiencies-addictions-medical-residents.html Other Wed, 22 May 2013 15:35:57 EST news288455749 A new measure of the heterogeneity – the variety of genetic mutations – of cells within a tumor appears to predict treatment outcomes of patients with the most common type of head and neck cancer. In the May 20 issue of the journal Cancer, investigators at Massachusetts General Hospital (MGH) and Massachusetts Eye and Ear Infirmary describe how their measure was a better predictor of survival than most traditional risk factors in a small group of patients with squamous cell carcinoma of the head and neck. http://medicalxpress.com/news/2013-05-genetic-diversity-tumors-outcome-neck.html Cancer Mon, 20 May 2013 03:10:04 EST news288237167 At a time when the U.S. health system is facing both an increasing demand for primary care services and a worsening shortage of primary care physicians, one broadly recommended strategy has been to increase the number and the responsibilities of nurse practitioners. In 2010 an Institute of Medicine (IOM) committee recommended that "advance practice registered nurses should be able to practice to the full extent of their education and training" and that nurse practitioners should be able to admit patients to hospitals and hospices, lead medical teams and medical homes, and receive reimbursements similar to what physicians receive for providing the same services. http://medicalxpress.com/news/2013-05-disagreement-role-primary-nurse-practitioners.html Health Wed, 15 May 2013 17:01:25 EST news287856078 A combination of two FDA-approved osteoporosis drugs with different mechanisms of action was found to increase bone density better than treatment with either drug alone in a small clinical trial. As reported in paper receiving Online First publication in The Lancet, Massachusetts General Hospital (MGH) investigators found that treatment combining denosumab (Prolia) and teriparatide (Forteo) was superior to single-agent treatment in a 12-month trial in women with postmenopausal osteoporosis. The authors note that additional study is required before their findings should be put into clinical practice. http://medicalxpress.com/news/2013-05-osteoporosis-drug-combination-outperforms-current.html Diseases, Conditions, Syndromes Tue, 14 May 2013 18:30:02 EST news287758995 Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia – a lack of muscle coordination – and dementia. In a paper that will appear in the May 23 New England Journal of Medicine and is receiving early online release, the investigators describe finding mutations in one or both of two genes involved in a cellular process called ubiquitination in affected members of five unrelated families. http://medicalxpress.com/news/2013-05-team-genes-combine-rare-syndrome.html Genetics Wed, 08 May 2013 17:00:03 EST news287249161 Massachusetts General Hospital (MGH) researchers have identified a gene variant that helps predict how much weight an individual will lose after gastric bypass surgery, a finding with the potential both to guide treatment planning and to facilitate the development of new therapeutic approaches to treating obesity and related conditions like diabetes. The report receiving advance online publication in The American Journal of Human Genetics is the first to identify genetic predictors of weight loss after bariatric surgery. http://medicalxpress.com/news/2013-05-gene-variant-weight-loss-gastric.html Genetics Thu, 02 May 2013 12:00:02 EST news286710668 A new study from investigators at the Benson-Henry Institute for Mind/Body Medicine at Massachusetts General Hospital (MGH) and Beth Israel Deaconess Medical Center (BIDMC) finds that elicitation of the relaxation response – a physiologic state of deep rest induced by practices such as meditation, yoga, deep breathing and prayer – produces immediate changes in the expression of genes involved in immune function, energy metabolism and insulin secretion. Published in the open-access journal PLOS ONE, the study combined advanced expression profiling and systems biology analysis to both identify genes affected by relaxation response practice and determine the potential biological relevance of those changes. http://medicalxpress.com/news/2013-05-genes-pathways-response.html Psychology & Psychiatry Wed, 01 May 2013 17:00:14 EST news286628359 Scientists funded by the National Institutes of Health have discovered a potential strategy for developing treatments to stem the disease process in Alzheimer's disease. It's based on unclogging removal of toxic debris that accumulates in patients' brains, by blocking activity of a little-known regulator protein called CD33. http://medicalxpress.com/news/2013-04-alzheimer-gene-potential-treatment.html Alzheimer's disease & dementia Thu, 25 Apr 2013 12:00:12 EST news286108610 A team led by Massachusetts General Hospital (MGH) researchers has identified a genetic signature that appears to reflect the risk of tumor recurrence or spread in men surgically treated for prostate cancer. If confirmed in future studies, this finding not only may help determine which patients require additional treatment after the cancerous gland has been removed, it also may help address the most challenging problem in prostate cancer treatment – distinguishing tumors that require aggressive treatment from those that can safely be monitored. The report has been issued online in PNAS Early Edition. http://medicalxpress.com/news/2013-04-gene-expression-signature-signify-recurrence-metastasis.html Cancer Mon, 15 Apr 2013 16:08:58 EST news285260932 Bioengineered rat kidneys developed by Massachusetts General Hospital (MGH) investigators successfully produced urine both in a laboratory apparatus and after being transplanted into living animals. In their report, receiving advance online publication in Nature Medicine, the research team describes building functional replacement kidneys on the structure of donor organs from which living cells had been stripped, an approach previously used to create bioartificial hearts, lungs and livers. http://medicalxpress.com/news/2013-04-implantable-bioengineered-rat-kidney-video.html Medical research Sun, 14 Apr 2013 13:00:17 EST news285140804 Feeding an intestinal enzyme to mice kept on a high-fat diet appears to prevent the development of metabolic syndrome – a group of symptoms associated with type 2 diabetes, cardiovascular disease and fatty liver – and to reduce symptoms in mice that already had the condition. In their report published online in PNAS Early Edition, Massachusetts General Hospital (MGH) investigators describe how dietary supplementation with intestinal alkaline phosphatase (IAP) reduced the inflammation believed to underlie metabolic syndrome by blocking a toxic molecule found on the surface of many bacteria. http://medicalxpress.com/news/2013-04-adding-intestinal-enzyme-diets-mice.html Medical research Mon, 08 Apr 2013 15:00:13 EST news284644422 The initial clinical trial of a novel approach to treating amyotrophic lateral sclerosis (ALS) – blocking production of a mutant protein that causes an inherited form of the progressive neurodegererative disease – may be a first step towards a new era in the treatment of such disorders. Investigators from Massachusetts General Hospital (MGH) and Washington University School of Medicine report that infusion of an antisense oligonucleotide against SOD1, the first gene to be associated with familial ALS, had no serious adverse effects and the drug was successfully distributed thoughout the central nervous system. http://medicalxpress.com/news/2013-04-phase-als-trial-antisense-treatment.html Neuroscience Wed, 03 Apr 2013 14:44:58 EST news284219085