Gene that helps blood vessels form linked to complex birth defect

A gene known for its ability to form blood vessels has been found to be a key player in a chromosomal abnormality that causes potentially devastating birth defects in the heart and throughout the body. In a study published in the February 2003 issue of Nature Medicine, a group of collaborators from across the globe reports that abnormalities in vascular endothelial growth factor, or VEGF, is a cause of DiGeorge syndrome. The syndrome can cause a wide range of heart defects, many of which are vascular in nature, as well as problems with the thymus and parathyroid gland, craniofacial abnormalities and mental retardation.

Mutation Causes Specific Arrhythmia and Sudden Cardiac Death

An international team of researchers has demonstrated a genetic basis for a fatal form of inherited cardiac arrhythmia that usually strikes young, seemingly healthy people. Basing their research on a French family with a form (Type 4) of inherited Long QT Syndrome (LQTS) and experiments in mice, the researchers found the mutation in a specific gene encoding ankyrin-B, a protein within heart muscle cells. Their discovery identifies what appears to be a novel mechanism for cardiac arrhythmia.

Some Alzheimer patients show unique compensatory brain activity

A group of Canadian researchers has found the most direct evidence to date that people with early-stage Alzheimer Disease can engage additional areas in the brain to perform successfully on memory tests. Alzheimer’s is a progressive, degenerative disease that affects an individual’s ability to think, remember, understand and make decisions. People with early-stage Alzheimer’s begin to experience problems with their episodic and semantic memory. Semantic refers to the accumulation of general world knowledge gained over a lifetime (for example, names of countries, famous people, major historical events). Episodic refers to events that one experiences throughout his/her life (for example, having visited the dentist yesterday, or graduating from college back in 1950).

Depression related to poor health after bypass surgery

Men who are depressed before their coronary artery bypass graft surgery are more likely to be re-hospitalized or suffer pain and reduced quality of life six months after their bypass operation, compared with men who are not depressed before the surgery, according to new research. Rates of hospitalization for heart attack or artery disease rose among bypass patients with pre-operative depression, say Matthew M. Burg, Ph.D., of the VA Connecticut Healthcare System and colleagues.

Bone marrow cells take on new role in the brain, say Stanford researchers

Researchers have published new evidence showing that cells from the bone marrow might help repair or maintain cells in other tissues. In a paper in this week’s online edition of the Proceedings of the National Academy of Sciences, the researchers describe finding chromosomes from a bone marrow transplant in the brain cells of transplant recipients. When people receive a bone marrow transplant after high-dose chemotherapy, some of the transplanted cells regenerate the blood-making cells that were destroyed. In past experiments in mice, scientists found that cells from the transplant could also relocate to tissues throughout the body rather than being restricted to the bone marrow and blood.

Breathing Device May Help Spare Tissue from Radiation Side Effects

A special breathing technology may help spare healthy lung, heart and liver tissue from the effects of radiation during treatment for early stage breast cancer. Kolby Sidhu, M.D., an instructor in radiation oncology at Jefferson Medical College of Thomas Jefferson University in Philadelphia, leads a clinical trial examining the effectiveness of the Active Breathing Coordinator (ABC), a device that is aimed at helping patients to hold their breath in a consistent manner while receiving radiation. This inhalation in turn increases the separation between the breast tissue and the heart, reducing the heart’s exposure to radiation during treatment.

Battery Could Power World's Smallest Devices

Though many people have never heard of them, the emerging realm of micro-scale devices ? called microelectromechanical systems, or MEMS ? could completely change the medical, automotive and aerospace industries, except for one thing. No battery yet exists that will provide long-lasting power and still fit inside devices smaller than the width of a human hair. Bruce Dunn, a materials science professor from the UCLA Henry Samueli School of Engineering and Applied Science, believes a radical new design for a lightweight, rechargeable battery ? a design based on three-dimensional geometry ? will provide power to a host of devices so small that traditional batteries simply cannot be used.

Chemical cousin of vitamin A restores gene function in former smokers

Use of a Vitamin A derivative in former smokers restored production of a crucial protein believed to protect against lung cancer development, researchers have found. Although they don’t have clear evidence that the three-month therapy using 9-cis retinoic acid (9-cis-RA) restored health to cells that were already precancerous, the researchers say the work demonstrates that “chemoprevention” of future lung cancer may be feasible. “The drug we used acts to reverse a genetic abnormality associated with development of lung cancer,” says Jonathan Kurie, M. D., an associate professor of medicine at the University of Texas M. D. Anderson Cancer Center. “The work is a proof of concept, suggesting that compounds like this may prove to have a protective effect against development of precancerous lesions.”

Researcher studies newly discovered 'good' cholesterol gene

Researchers have found that a recently discovered gene regulates HDL (high density lipoproteins) cholesterol, also known as “good” cholesterol. The study, published in the February issue of the Journal of Clinical Investigation, could lead to new therapies for heart disease, said lead author Thomas Quertermous, MD. “This is a significant and unexpected finding, and the gene is going to be a real target for the prevention and treatment of heart disease,” said Quertermous, the William G. Irwin Professor and chief of cardiovascular medicine at Stanford University School of Medicine. “This type of thing doesn’t happen every day.”

Patients benefit when doctors use computers, not paper

Hospitals may be able to significantly cut the time it takes to deliver medications to patients and complete X-rays and lab tests by having doctors fill out orders via computer rather than by hand, a new study suggests. Results showed that computerized ordering also eliminated prescription drug errors that occurred when doctors’ handwritten prescriptions were misread. The study found that computerizing physician orders cut medication turn-around times by 64 percent, cut turn-around times for X-rays and other radiology procedures by 43 percent, and reduced turn-around times for lab tests by 25 percent.