Body

SALT LAKE CITY—Many patients who have genetic testing for Lynch syndrome, a hereditary predisposition to colon cancer, receive the inconclusive result "variants of uncertain clinical significance." This can be a problem, as people with Lynch syndrome have a much higher probability to develop colon cancer, and often develop colon cancer at an earlier age than is common among the general population; consequently, they need to begin screening at a much younger age.

Physician-researchers at Indiana University School of Medicine have reported the first effective therapy for a class of previously untreatable and potentially life-threatening tumors often found in children.

Announcing their findings in the online first edition of Lancet Oncology, the researchers said the drug imatinib mesylate, marketed as Gleevec as a treatment for chronic myeloid leukemia, provided relief to a significant number of patients with plexiform neurofibromas, tumors caused by neurofibromatosis type 1, or NF1.

Montreal, November 1, 2012 – As urban populations expand, downtown buildings are going nowhere but up. The huge energy needs of these skyscrapers mean that these towers are not only office buildings, they're polluters with smokestacks billowing out toxins from the rooftop. Our cities are dirtier than we think. New research from Concordia University just might clean them up.

A gene that is associated with regeneration of injured nerve cells has been identified by scientists at Penn State University and Duke University. The team, led by Melissa Rolls, an assistant professor of biochemistry and molecular biology at Penn State, has found that a mutation in a single gene can entirely shut down the process by which axons -- the parts of the nerve cell that are responsible for sending signals to other cells -- regrow themselves after being cut or damaged.

PITTSBURGH, Nov. 1, 2012 – An injection of banked sperm-producing stem cells can restore fertility to male primates who become sterile due to cancer drug side effects, according to researchers at the University of Pittsburgh School of Medicine and Magee-Womens Research Institute. In their animal study, which was published today in Cell Stem Cell, previously frozen stem cells restored production of sperm that successfully fertilized eggs to produce early embryos.

Congenital diarrheal disorder linked to a mutation in DGAT1

Congenital diarrheal disorders (CDD) are a group of rare intestinal diseases that are caused by genetic mutations. In a study published in the Journal of Clinical Investigation, Robert Farese and colleagues at the University of California, San Francisco, identified a family with two of three children affected by CDD. The affected children both carried a rare mutation in the DGAT1 gene. DGAT1 mediates the formation of triglycerides and is being assessed as a therapeutic target in the treatment of obesity.

HOUSTON - (Nov. 2, 2012) – Notch – the protein that can help determine cell fate – maintains a stable population of basal cells in the prostate through a positive feedback loop system with another key protein – TGF beta (transforming growth factor beta), said Baylor College of Medicine researchers in the journal Cell Stem Cell.

A promising stem-cell-based approach for treating infertility has been successfully demonstrated in non-human primates, as reported in a study published by Cell Press in the November issue of the journal Cell Stem Cell. The preclinical study represents an important milestone for translating this strategy to the clinic, particularly for cancer survivors who have been rendered infertile by chemotherapy they received before reaching sexual maturity.

Capturing and recycling ammonia from livestock waste is possible using a process developed by U.S. Department of Agriculture (USDA) researchers. This invention could help streamline on-farm nitrogen management by allowing farmers to reduce potentially harmful ammonia emissions and concentrate nitrogen in a liquid product to sell as fertilizer.

Harvard scientists have solved the long-standing mystery of how some insects form the germ cells – the cellular precursors to the eggs and sperm necessary for sexual reproduction – and the answer is shedding new light on the evolutionary origins of a gene that had long been thought to be critical to the process.

Researchers in Japan report that health-related quality of life (HRQOL) for donors following living donor liver transplantation (LDLT) was better than the general Japanese population (the norm). This study—one of the largest to date—found that donors who developed two or more medical problems (co-morbidities) after donation had significantly decreased long-term HRQOL. Full findings are published in the November issue of Liver Transplantation, a journal of the American Association for the Study of Liver Diseases (AASLD).

BUFFALO, N.Y. -- In a new study, University at Buffalo scientists describe the role that a protein called TFIIB plays in helping cells repair DNA damage, a critical function for preventing the growth of tumors.

The research appeared online on Oct. 30 in the Proceedings of the National Academy of Sciences (PNAS) Early Edition.

TFIIB, short for "transcription factor II B," is a protein that binds to DNA in cells to initiate the process of transcription, which is critical for building new proteins.

Researchers at National Jewish Health have discovered a novel target for the treatment of food allergies. Erwin Gelfand, MD, and his colleagues report in the October 2012 issue of the Journal of Allergy and Clinical Immunology that levels of the enzyme Pim 1 kinase rise in the small intestines of peanut-allergic mice. Inhibiting activity of Pim 1 markedly reduced the allergic response to peanuts.

Computational medicine, a fast-growing method of using computer models and sophisticated software to figure out how disease develops -- and how to thwart it -- has begun to leap off the drawing board and land in the hands of doctors who treat patients for heart ailments, cancer and other illnesses. Using digital tools, researchers have begun to use experimental and clinical data to build models that can unravel complex medical mysteries.