http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. A type of low-grade but sometimes lethal brain tumor in children has been found in many cases to contain an unusual mutation that may help to classify, diagnose and guide the treatment of the tumors, report scientists at Dana-Farber Cancer Institute. http://medicalxpress.com/news/2013-04-scientists-mutation-pediatric-brain-tumors.html Genetics Tue, 30 Apr 2013 17:28:13 EST news286561685 Researchers from the Germans Trias i Pujol Health Sciences Research Institute Foundation (IGTP), the Bellvitge Biomedical Research Institute (IDIBELL), and the Sant Joan de Déu de Martorell Hospital, has identified a new subtype of ataxia, a rare disease without treatment that causes atrophy in the cerebellum and affects around 1.5 million people in the world. The results have been published online on April 29 in the journal JAMA Neurology. http://medicalxpress.com/news/2013-04-subtype-ataxia.html Neuroscience Mon, 29 Apr 2013 16:00:05 EST news286466068 Scientists at The University of Manchester have made important advances in understanding why our immune system can attack our own tissues resulting in eye and kidney diseases. It is hoped the research will pave the way for the development of new treatments for the eye condition age-related macular degeneration (AMD) and the kidney condition atypical Haemolytic Uremic Syndrome (aHUS). http://medicalxpress.com/news/2013-02-molecular-basis-tissue-specific-immune.html Immunology Wed, 20 Feb 2013 07:52:05 EST news280569115 Scientists at Washington University School of Medicine in St. Louis have identified a genetic mutation that may underlie common behaviors seen in some people with autism, such as difficulty communicating and resistance to change. http://medicalxpress.com/news/2013-02-autism-behaviors-linked-gene.html Neuroscience Tue, 12 Feb 2013 17:18:40 EST news279911901 A genetic variant commonly found in Chinese people may help explain why some got seriously ill with swine flu, a discovery scientists say could help pinpoint why flu viruses hit some populations particularly hard and change how they are treated. http://medicalxpress.com/news/2013-01-genetics-severe-flu-chinese-people.html Diseases, Conditions, Syndromes Tue, 29 Jan 2013 12:01:07 EST news278683239 Researchers at the University of Granada have produced for the first time in the world mice lacking the coenzyme Q10, a rare mitochondrial disease prevailingly affecting children. The researchers needed three years to complete the study. http://medicalxpress.com/news/2013-01-mutant-mouse-treatment-neuromuscular-diseases.html Genetics Tue, 29 Jan 2013 10:22:30 EST news278677342 The use of carefully chosen animal models often underlies crucial medical advances. A perfect example is provided by the recent demonstration that a known drug, imatinib, can be used to treat a rare but highly aggressive type of lymphoma. The work was largely undertaken in the group of Lukas Kenner at the Ludwig Boltzmann Institute for Cancer Research and the Medical University of Vienna with the support of Karoline Kollmann and Veronika Sexl at the University of Veterinary Medicine, Vienna, together with a number of national and international collaborators. The findings are published in the current issue of the prestigious journal Nature Medicine. http://medicalxpress.com/news/2012-10-mice-men.html Cancer Mon, 15 Oct 2012 10:36:48 EST news269516173 (Medical Xpress)—A University of Adelaide researcher has published results that suggest a possible new mechanism to control multiple sclerosis (MS). http://medicalxpress.com/news/2012-10-closer-inflammation-ms.html Medical research Thu, 04 Oct 2012 07:29:16 EST news268554549 A large study in people at risk of diabetes has found a direct association between the presence of a small genetic alteration in a hormone receptor and increased body fat and insulin resistance. The results, to be presented Tuesday at The Endocrine Society's 94th Annual Meeting in Houston, suggest an adverse role for a previously described genetic variant, the BclI polymorphism. http://medicalxpress.com/news/2012-06-genetic-variant-linked-obesity-insulin.html Genetics Tue, 26 Jun 2012 14:30:01 EST news259925896 In a look at how major stressors during childhood can change a person's biological risk for psychiatric disorders, researchers at Butler Hospital have discovered a genetic alteration at the root of the association. The research, published online in PLoS ONE on January 25, 2012, suggests that childhood adversity may lead to epigenetic changes in the human glucocorticoid receptor gene, an important regulator of the biological stress response that may increase risk for psychiatric disorders. http://medicalxpress.com/news/2012-02-childhood-adversity-genetics.html Genetics Mon, 27 Feb 2012 14:50:10 EST news249576599 Scientists at University College Dublin, Ireland, have identified a genetic alteration which causes a child to be born with no eyes – a condition called anophthalmia. http://medicalxpress.com/news/2011-12-babies-born-eyes-scientists-genetic.html Genetics Mon, 12 Dec 2011 10:06:01 EST news242906753 A discovery by scientists at the Salk Institute for Biological Studies might explain why some premature infants fail to respond to existing treatments for a deadly respiratory distress syndrome (RDS) and offers clues for new ways to treat the breathing disorder. http://medicalxpress.com/news/2011-10-life-primary-killer-premature-infants.html Medical research Tue, 18 Oct 2011 09:38:45 EST news238149507 Cambridge scientists have identified the cause of a rare, life-threatening form of hypoglycaemia. Their findings, which have the potential to lead to pharmaceutical treatments for the disorder, were published today in the journal Science. http://medicalxpress.com/news/2011-10-severe-hypoglycemia.html Genetics Thu, 06 Oct 2011 14:00:11 EST news237125909 A specific genetic alteration has been discovered as a defining feature of epithelioid hemangioendothelioma (EHE), a rare but devastating vascular cancer. These findings have also been used to develop a new diagnostic test for this blood vessel disease. http://medicalxpress.com/news/2011-08-rare-vascular-cancer.html Cancer Wed, 31 Aug 2011 14:29:27 EST news234019737 There are numerous specialized growth factors that are responsible for cells of different tissues of our body to divide and differentiate when needed. These hormone-like factors bind to matching receptors on the surface of their target cells and thus give order for the cell to divide. However, a single genetic alteration can be sufficient for the whole system to get out of control. If, for example, the gene for such a growth factor or for the matching receptor is hyperactive, then the cell permanently receives signals to divide – and this can result in cancer. http://medicalxpress.com/news/2011-08-leukemia-stem-cells.html Cancer Tue, 23 Aug 2011 10:41:28 EST news233314861