Body

Scientists in Singapore and Germany report that mutations in the PYCR1 gene cause the rare genetic condition that results in premature skin aging and that is known as "wrinkly skin syndrome," and report this in Nature Genetics.

Their findings not only suggest that increasing levels of the PYCR1 protein could reverse conditions that cause fast aging and wrinkly skin but also provide insight into how some unexpected genes help maintain youthful skin.

Drawing on the power of DNA sequencing, National Institutes of Health researchers have identified a new group of genetic mutations involved in the deadliest form of skin cancer, melanoma. This discovery is particularly encouraging because some of the mutations, which were found in nearly one-fifth of melanoma cases, reside in a gene already targeted by a drug approved for certain types of breast cancer.

Research in the Linus Pauling Institute at Oregon State University suggests that some natural food compounds, which previously have been studied for their ability to prevent cancer, may be able to play a more significant role in treating it – working side-by-side with the conventional drugs that are now used in chemotherapy.

PITTSBURGH, Aug. 31 – Patient race, gender and insurance status influence decisions about who will go on to receive liver transplants, according to a University of Pittsburgh School of Medicine study. Available online and published in the September issue of the American Journal of Transplantation, the study indicates that women, blacks and patients with Medicare who are in end-stage liver disease are less likely to be referred and evaluated for liver transplantation.

Columbus, Ohio—August 31, 2009— Many families struggle on a day-to-day basis with insufficient in-home care or problematic out-of-home care for their emotionally or behaviorally troubled children and adolescents. Researchers have recently shown that an integrative family care model, which incorporates the strengths of external agencies and care providers, may be the answer. The latest issue of Family Process features this new model.

Barcelona, Spain, 30 August: At present almost every month there are papers reporting the discovery of new genetic variants that affect the risk of coronary artery disease and heart attacks. This is a truly exciting time for both researchers and clinicians interested in understanding the genetic basis of heart disease. The findings will undoubtedly lead to new biological insights into the mechanisms that cause heart attacks which in turn may result in the future new types of treatments. Will this new genetic information be useful in preventing heart attacks and if so how?

A research report featured on the cover of the September 2009 print issue of The FASEB Journal (http://www.fasebj.org) describes how Australian scientists developed a new gene therapy vector that uses the same machinery that viruses use to transport their cargo into our cells. As a result of this achievement, therapeutic DNA can be transferred to a cell's nucleus far more efficiently than in the past, raising hopes for more effective treatment of genetic disorders and some types of cancers.

Barcelona, Spain, 30 August: "Today, transcatheter aortic valve implantation (TAVI) represents an effective therapeutic alternative to conventional aortic valve replacement for patients who are at high risk or with contraindications to surgery, and the combination of the transfemoral and transapical approaches further increases the number of patients who can be treated" said Prof Dominique HIMBERT from the Bichat Hospital in Paris France, at a press conference at the ESC Congress in Barcelona.

Barcelona, Spain, 30 August: A recently completed analysis of over one million hospital cases in Sweden during the period 1988 to 2004 has revealed that heart failure, relative to most common forms of cancer specific to men and women, represents a major health burden in respect to the risk of being hospitalised for the first time, poor overall survival and the number of premature life-years lost.

Barcelona, Spain, 31 August: A comprehensive strategy, focusing on changes in lifestyle and on the management of risk factors, is needed to prevent premature mortality and reduction of life expectancy in good health due to cardiovascular disease (CVD). The European Heart Health Charter has established a roadmap for European countries.

Barcelona, Spain, 31 August: New 2009 Guidelines for the diagnosis and treatment of pulmonary hypertension are made public today. The Guidelines have been jointly produced by a Task Force of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS); the Task Force also included experts from the International Society of Heart and Lung Transplantation (ISHLT).

In the future, women with metastatic ovarian cancer could be treated with a radioactive substance that can seek and destroy tumour cells. An initial study in patients conducted jointly by the Sahlgrenska Academy at the University of Gothenburg and Sahlgrenska University Hospital has found that the treatment has no unwanted side-effects.

Three out of ten women who undergo polar body diagnosis go on to have a child. The extensive technique of polar body analysis (PBA) is described by researchers in reproductive medicine at Lübeck in an article in the current edition of Deutsches Ärtzeblatt International, in which they present three successful cases and one failure (Dtsch Arztebl Int 2009; 106(33): 533-8).

Fast growing transgenic fish can revolutionise commercial fish farming and relieve the pressure on overexploited fish stocks. But what happens in the natural environment if transgenic fish escape? Researchers at the University of Gothenburg have studied transgenic fish on behalf of the EU and are urging caution:-Until further notice transgenic fish should be bred in closed systems on land, says Fredrik Sundström at the Department of Zoology, University of Gothenburg.

German scientists have identified a serious and previously misunderstood contaminant that brings the safety and efficacy of intravenous treatments into question. In a report published in the September 2009 issue of the Journal of Leukocyte Biology (http://www.jleukbio.org), they show how a common intravenous treatment used to boost blood pressure in ailing patients also contains substances called "advanced glycation end products," which trigger inflammation.