Gene Variation Affects Tamoxifen’s Benefit for Breast Cancer
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One of the most commonly prescribed drugs for breast cancer, tamoxifen, may not be as effective for women who inherit a common genetic variation, according to researchers at the University of Michigan and the Mayo Clinic. The genetic variation affects the level of a crucial enzyme that activates tamoxifen to fight breast cancer.
The study, co-led by researcher James Rae, Ph.D., at the University of Michigan Comprehensive Cancer Center and Matthew Goetz, M.D., an oncologist at the Mayo Clinic, tested the most common genetic variant responsible for lowering the CYP2D6 enzyme, and found that women with this genetic variant were almost twice as likely to see their breast cancer return. Up to 10 percent of women inherit this genetic trait.
Six Reasons Not to Scrimp on Sleep
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A recent survey found that more people are sleeping less than six hours a night, and sleep difficulties visit 75% of us at least a few nights per week. A short-lived bout of insomnia is generally nothing to worry about. The bigger concern is chronic sleep loss, which can contribute to health problems such as weight gain, high blood pressure, and a decrease in the immune system’s power, reports the Harvard Women’s Health Watch.
While more research is needed to explore the links between chronic sleep loss and health, it’s safe to say that sleep is too important to shortchange. The Harvard Women’s Health Watch suggests six reasons to get enough sleep:
Kids with specific gene variant more at risk from passive smoking
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When U.S. children who possess a variant gene are exposed to second-hand smoke in their homes, they are at a substantially greater risk for developing respiratory illnesses that lead to school absences.
The findings are reported in the second issue of the December 2005 American Journal of Respiratory and Critical Care Medicine, published by the American Thoracic Society.
Gene therapy tackles hereditary spastic paraplegia
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Elena Rugarli and colleagues from the National Neurological Institute in Milan have used gene therapy to save sensory and skeletal muscle nerve fibers from degeneration in mice with hereditary spastic paraplegia (HSP).
This strategy, reported online on December 15 in advance of print publication in the January 2006 issue of the Journal of Clinical Investigation, holds promise for many other disorders characterized by nerve degeneration due to loss of function of a known gene.
Two Key Players in Cancer Prevention and How They Work
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Mayo Clinic researchers have challenged the conventional teaching about a common cancer trait and in doing so, discovered how cells are naturally “cancer proofed.” Their findings appear in today’s early online edition of the Dec. 15 issue of the journal Nature (http://www.nature.com/nature ).
The researchers investigated aneuploidy (AN-u-ploy-dee), the state in which a cell has an abnormal number of chromosomes that creates cellular instability, giving rise to tumors. They discovered two key proteins that help prevent aneuploidy, and also found how the proteins work to “cancer proof” a cell: by preventing premature segregation of duplicated chromosomes during (nuclear) cell division.
Gene Mutation Found That Increases Severity of Multisystem Syndrome
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Johns Hopkins scientists studying a rare inherited syndrome marked by eye and kidney problems, learning disabilities and obesity have discovered a genetic mutation that makes the syndrome more severe but that alone doesn’t cause it. Their report appears in the advance online edition of Nature (Dec. 4).
The new discovery about Bardet-Beidl syndrome (BBS) came from a panoply of studies—starting with comparative genomics and experiments with yeast, and moving to experiments with zebrafish and genetic analysis of families with the syndrome—and mirrors what experts expect for the genetically complex common diseases that kill most Americans, like diabetes, heart disease and cancer.
Oral contraceptives safe in lupus patients
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Women with lupus can safely take oral contraceptives without fear that the pill will worsen their condition, two studies released on Wednesday showed.
The studies in this week’s issue of The New England Journal of Medicine shake up the conventional wisdom that discouraged doctors from prescribing the pill and forced many female lupus patients to opt for less convenient contraceptives or even abortion.
Cancer Scientists Call for a Large-Scale Human Epigenome Project
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A vast code, invisible to the DNA sequencing effort that constituted the Human Genome Project, is rapidly being shown to play a direct role in human health. This “epigenome” - from the Greek epi, meaning “in addition to” - consists of chemical “amendments” that dangle like charms on a bracelet from the linear string of letters that spell out the genetic code.
Now, an international group of 40 leading cancer scientists says the time is ripe to undertake a large-scale international “Human Epigenome Project” designed to map the chemical modifications to DNA that comprise the epigenetic code. Their proposal, “A Blueprint for a Human Epigenome Project”—published in the December 15, 2005 issue of Cancer Research—summarizes the findings of an AACR-sponsored workshop held June 15-18, 2005, in Lansdowne, Va.
Depression and Anxiety Improve After Epilepsy Surgery
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Depression and anxiety are common problems for people whose epilepsy cannot be controlled by medication. A new study found that depression and anxiety improve significantly after epilepsy surgery.
The study, which is published in the December 13, 2005, issue of Neurology, the scientific journal of the American Academy of Neurology, found that the rate of depression and anxiety disorders decreased by more than 50 percent up to two years after the surgery. People who no longer experienced any seizures after surgery were even more likely to be free of depression and anxiety.
UVa Health System Opens Clinical Trial of Emphysema Treatment
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Doctors at the University of Virginia Health System have opened a new clinical trial to try and help people with emphysema breathe better. The study will test the safety and effectiveness of a bronchoscopic valve, an experimental device designed to channel air to healthier portions of the lung. The idea is to improve a patient’s physical functioning, tolerance for exercise and general quality of life.
The study device works by limiting airflow to a selected portion of the lung in patients with emphysema. The bronchoscopic valve is implanted without an incision, hopefully providing an alternative to lung volume reduction surgery. The device is a small valve shaped like an umbrella. It’s placed in the bronchial tree to prevent air from entering targeted sections of the lung. Doctors successfully implanted the device in UVa’s first patient Dec. 2, the first time the device has been used in a clinical trial in the Southeast.
Some Leukemia Patients May Improve by Taking a Green Tea Extract
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A new case study by Mayo Clinic researchers provides preliminary evidence to suggest a component of green tea may lead to clinical improvement in patients with chronic lymphocytic leukemia (CLL). Findings are published online in Leukemia Research.
In the small case study, the researchers report on four patients who appeared to have an improvement in the clinical state of their disease after starting over-the-counter products containing epigallocatechin gallate (EGCG), an extract of green tea. Three of the four patients met the standard criteria used to define a response treatment for clinical trials. These same investigators had previously shown that EGCG kills leukemia cells from patients with CLL in the test tube by interrupting the communication signals they need to survive. That study was published in Blood in 2004.
Surprising autism finding
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New brain imaging research at the University of North Carolina at Chapel Hill indicates that when people with autism look at a face, activity in the brain area that responds is similar to that of people without autism.
The finding is surprising, as it is widely known that autistic individuals tend to avoid looking directly at faces. The research also counters previous published reports that the face-processing area at the back of the brain is under-responsive in people with autism, and it suggests that specific behavioral interventions may help people with autism improve their ability to interact socially.
Carpal Tunnel Syndrome Not Caused by Workplace Computer Use
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A new Special Health Report from Harvard Medical School refutes the common assumption that computer use causes carpal tunnel syndrome. Instead, says this report edited by Harvard-based hand experts, carpal tunnel syndrome is caused by the compression of the median nerve in the wrist. This compression may occur because of heredity, body weight, fracture, or even pregnancy—but not computer use.
This 40-page report, “Hands: Strategies for strong, pain-free hands,” also explains the many causes of hand pain and describes the exercises, therapies, and medications used to treat them.
Evidence Links Cocaine Abuse and Parkinson’s Disease
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Adults who abuse cocaine might increase their risk of developing Parkinson’s disease (PD), and pregnant women who abuse cocaine could increase the risk of their children developing PD later in life, according to results of laboratory studies performed by investigators at St. Jude Children’s Research Hospital.
The study’s findings are important because there are currently more than 2 million cocaine abusers in the US today, the researchers said. Many individuals who abused the drug during the height of the cocaine abuse epidemic of the 1970s and 1980s are now entering their older years, when symptoms of PD are likely to emerge.
Testosterone Therapy May Help Elderly Men with Mild Alzheimer Disease
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Testosterone replacement therapy may help improve the quality of life for elderly men with mild cases of Alzheimer’s disease, according to a study posted online today that will appear in the February 2006 print issue of Archives of Neurology, one of the JAMA/Archives journals.
“There is a compelling need for therapies that prevent, defer the onset, slow the progression, or improve the symptoms of Alzheimer disease (AD),” the authors provide as background information in the article. They note that hormonal therapies have been the focus of research attention in recent years since male aging is associated with a gradual progressive decline in testosterone levels. “The gradual decline in testosterone level is associated with decreased muscle mass and strength, osteoporosis, decreased libido, mood alterations, and changes in cognition, conditions that may be reversed with testosterone replacement.” The authors add that the age-related decline in testosterone is potentially relevant to AD as previous studies have found significantly lower concentrations of the hormone in middle-aged and elderly men who developed AD.