http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing a child with CDG and pinpointing the exact sugar gene that's mutated can be a huge relief for parents—they better understand what they're dealing with and doctors can sometimes use that information to develop a therapeutic approach. Whole-exome sequencing, an abbreviated form of whole-genome sequencing, is increasingly used as a diagnostic for CDG. http://medicalxpress.com/news/2013-05-cautionary-tale-genome-sequencing-diagnostics-rare.html Genetics Fri, 10 May 2013 05:49:36 EST news287383768 Transplants of blood-forming stem cells from umbilical cord blood may be an effective alternative to transplants of matched donor bone marrow stem cells to treat children with a rare, debilitating disease known as Hurler's syndrome (HS), according to results of a study published online today in Blood, the Journal of the American Society of Hematology (ASH). http://medicalxpress.com/news/2013-03-cord-blood-effective-alternative-donor.html Medical research Thu, 14 Mar 2013 11:03:12 EST news282477785 A research paper by the group of Michael Sixt, Assistant Professor at the Institute of Science and Technology Austria (IST Austria), published today in Science, provides new insights into how immune cells find their way through tissues. The findings provide the first evidence for directed cell migration along concentration gradients of chemical cues immobilized in tissues, a concept that has long been assumed but never experimentally proven. http://medicalxpress.com/news/2013-01-immune-cells-skin-graded-patterns.html Medical research Thu, 17 Jan 2013 14:00:01 EST news277653549 Biologists in Canada have made a medical enzyme using genetically-engineered corn, a feat that could one day slash the cost of treating a life-threatening inherited disease, a journal reported on Tuesday. http://medicalxpress.com/news/2012-09-lab-drug-on-the-cob-rare-disease.html Diseases, Conditions, Syndromes Tue, 18 Sep 2012 12:26:25 EST news267189967 Scientists from the Monell Center report that blood glucose levels following starch ingestion are influenced by genetically-determined differences in salivary amylase, an enzyme that breaks down dietary starches. Specifically, higher salivary amylase activity is related to lower blood glucose. http://medicalxpress.com/news/2012-04-enzyme-saliva-blood-glucose.html Medical research Wed, 04 Apr 2012 14:17:58 EST news252767866 (Medical Xpress) -- A new discovery involving two Simon Fraser University scientists could lead to a little known and benign bacterium becoming a vital new tool in the development of a vaccine against human immunodeficiency virus (HIV). http://medicalxpress.com/news/2012-02-hiv-vaccine-related-tool.html HIV & AIDS Thu, 23 Feb 2012 14:09:44 EST news249228572 Scientists working at the Medical Research Council have identified changes in the patterns of sugar molecules that line pre-cancerous cells in the esophagus, a condition called Barrett's dysplasia, making it much easier to detect and remove these cells before they develop into esophageal cancer. These findings, reported in the journal Nature Medicine, have important implications for patients and may help to monitor their condition and prevent the development of cancer. http://medicalxpress.com/news/2012-01-sugar-halt-esophageal-cancer-tracks.html Cancer Sun, 15 Jan 2012 13:00:01 EST news245852716 Researchers at the University of California, San Diego School of Medicine say that losing the ability to make a particular kind of sugar molecule boosted disease protection in early hominids, and may have directed the evolutionary emergence of our ancestors, the genus Homo. http://medicalxpress.com/news/2011-10-sexual-sugar-molecule-human.html Medical research Mon, 10 Oct 2011 15:00:08 EST news237465492 The bacterium that causes tuberculosis has a unique molecule on its outer cell surface that blocks a key part of the body's defense. New research suggests this represents a novel mechanism in the microbe's evolving efforts to remain hidden from the human immune system. http://medicalxpress.com/news/2011-10-tuberculosis-bacterium-outer-cell-wall.html Diseases, Conditions, Syndromes Mon, 03 Oct 2011 17:16:03 EST news236880900 Researchers at the Sahlgrenska Academy, University of Gothenburg, have identified a series of novel proteins in human cerebrospinal fluid. The proteins, which carry specific sugar molecules, are found in greater concentrations in patients with dementia caused by Alzheimer's disease than in patients with dementia caused by other diseases. This gives hope for new forms of treatment in the future. http://medicalxpress.com/news/2011-06-clues-alzheimer-disease.html Diseases, Conditions, Syndromes Thu, 30 Jun 2011 11:37:47 EST news228652650