Researchers said they have linked the first genes to multiple sclerosis in more than 20 year. The findings, which come from a pair of large-scale genetic studies supported by the National Institutes of Health, could shed new light on what causes the disabling neurological disorder and on potential treatments for at least 350,000 Americans who have the disease. Both studies involved scanning DNA samples from more than 20,000 MS patients and unaffected individuals in the U.S. and Europe. The focused on looking for single nucleotide polymorphisms or SNPs, which are single-letter variations in a gene's DNA code. Published simultaneously today in the New England Journal of Medicine and Nature Genetics, the studies demonstrate an association between MS and SNPs in two genes that encode interleukin receptors, proteins that serve as antennae on the surface of immune cells.
STEM CELLS: THERAPY RESCUES MOTOR NEURONS IN ALS
A team of scientists from the University of Wisconsin-Madison has shown it is possible to rescue the dying neurons characteristic of amyotrophic lateral sclerosis or ALS, a fatal neuromuscular disorder also known as Lou Gehrig's disease. The study, published in the open-access journal PLoS ONE demonstrates the promise of cell-based therapies for diseases that have proved intractable to modern medicine, the researchers said. It showed that stem cells engineered to secrete a key growth factor can protect the motor neurons that waste away as a result of ALS. However, while the motor neurons within the spinal cord are protected by the growth factor, their ability to maintain connections with the muscles they control was not observed. At present, there are no effective treatments for ALS, which afflicts roughly 40,000 people in the United States and which is almost always fatal within three to five years of diagnosis.
LUPUS: DISCOVERY OF GENE PROVIDES NEW UNDERSTANDING
A gene discovered by scientists at Wake Forest University School of Medicine has been linked to lupus and related autoimmune diseases. The researchers call their findings, reported in the current issue of Nature Genetics, a huge leap toward understanding the cause of lupus and related autoimmune diseases. Researchers found variations of the TREX1 gene in patients with systemic lupus erythematosus and several other autoimmune diseases. In lupus, the body produces antibodies that attack it and cause pain and inflammation in the skin, joints, heart, lungs, blood, kidneys and brain. The disease is characterized by pain, heat, redness, swelling, and loss of function. The researchers hope that understanding more about the gene's mutations and the structure of the protein may lead to drug treatments to help ensure that mutant copies of the gene are inactive.
CANCER: SEXUAL PROBLEMS OF SURVIVORS MERIT MORE ATTENTION
The first study to look at sexual function in very long-term female survivors of genital-tract cancer found that these women were pleased with the quality of their cancer care but less satisfied with the emotional support and information they received about dealing with the effects of the disease and treatment on sexuality. While 74 percent of the women in this study believed that physicians should initiate a discussion about sex, 62 percent of women who had undergone "severe compromise to their reproductive and sexual organs" said their physicians had never brought up the effects of their treatment on sexuality. Women who had not had such a discussion were three times as likely to suffer from multiple sexual problems at the time of the survey, the researchers reported in the journal Gynecologic Oncology.
PANCREATIC CANCER: METHOD SHOWS PROMISE FOR EARLY DETECTION
Optical technology developed by a Northwestern University biomedical engineer shown to be effective in the early detection of colon cancer now appears promising for detecting pancreatic cancer, the fourth most common cause of cancer deaths in the United States. Known as a silent killer, with no method of early detection, pancreatic cancer spreads rapidly and seldom is detected in its early stages. The new technique could lead to the first screening method for pancreatic cancer in asymptomatic patients. The extraordinarily sensitive technique, which is minimally invasive and takes advantage of certain light-scattering effects, can detect abnormal changes in cells lining the duodenum even though the cells appear normal when examined with a conventional microscope. The results, published in the journal Clinical Cancer Research, show that the changes accurately predict the presence of cancer.
BLOOD: NATIONAL DONOR POOL SMALLER THAN PREVIOUSLY THOUGHT
The number of individuals in the United States who are eligible to donate blood may be smaller than previously believed—approximately 60 million fewer people, according to a study published in the journal Transfusion. The new figures suggest that only 37 percent of the U.S. population is eligible to donate blood, and with anticipated demographic changes, that percentage is likely to drop, according to researchers at the University of Minnesota. The conventional method of calculating eligible donors, which focuses exclusively on age criteria, indicates that there are approximately 177 million eligible donors in the U.S. population. But the study found that only 111 million individuals in the U.S. are eligible. The researchers' lower estimate is based on a more stringent model that excludes individuals due to such factors as high-risk behavior, disease exposure, presence of chronic diseases, and age.
SCHIZOPHRENIA: RESEARCHERS DEVELOP FIRST MOUSE MODEL
Johns Hopkins researchers have genetically engineered the first mouse that models both the anatomical and behavioral defects of schizophrenia, a complex and debilitating brain disorder that affects more than 2 million Americans. In contrast to current animal studies that rely on drugs that can only mimic the manifestations of schizophrenia, such as delusions, mood changes, and paranoia, this new mouse is based on a genetic change relevant to the disease. The researchers, who reported their work online in the Proceedings of the National Academy of Sciences, said the new mouse model should help understanding disease progression and developing new therapies.
SMOKING: PRENATAL EXPOSURE RAISES INFANT'S BLOOD PRESSURE
Infants whose mothers smoke during pregnancy have substantially higher blood pressures in their first months of life, according to researchers at the University Medical Center Utrecht in The Netherlands. The study, published in Hypertension: Journal of the American Heart Association, found that by age 2 months, babies born to mothers who smoked had higher systolic blood pressures compared to those whose mothers didn't smoke and weren't exposed to smoke during pregnancy. The researchers said this association appears to occur in utero and doesn't appear to be due to the postnatal environment of the infant. Infants born to mothers who smoked during pregnancy had 5.4 millimeters of mercury higher systolic blood pressure levels than babies whose mothers were not exposed to tobacco smoke during pregnancy. This estimate was obtained after controlling for birth weight, infant age, gender, nutrition and age of the mother—all factors that could affect the blood pressure of the infant, researchers said.
DIABETES: INSULIN GROWN IN PLANTS COULD PROVIDE NEW TREATMENT
Capsules of insulin produced in genetically modified lettuce could hold the key to restoring the body's ability to produce insulin and help millions of Americans who suffer from insulin-dependent diabetes, according to University of Central Florida biomedical researchers. The researchers genetically engineered tobacco plants with the insulin gene and then administered freeze-dried plant cells to five-week-old diabetic mice as a powder for eight weeks. By the end of the study, the diabetic mice had normal blood and urine sugar levels, and their cells were producing normal levels of insulin. Those results and prior research indicate that insulin capsules could someday be used to prevent diabetes before symptoms appear and treat the disease in its later stages, the researchers said. They have proposed using lettuce instead of tobacco to produce the insulin because that crop can be produced cheaply and avoids the negative stigma associated with tobacco.
BLOOD VESSELS: GENETIC FINDING SHEDS LIGHT ON FATAL DISORDER
Researchers at Washington University School of Medicine in St. Louis have linked a genetic mutation to a fatal disorder they first described 21 years ago. In the journal Nature Genetics, the researchers report that a mutation in the gene known as TREX1 is tied to the development or a rare and often misdiagnosed or unrecognized condition known as retinal vasculopathy with cerebral leukodystrophy or RVCL. Patients with RVCL suffer the loss of small blood vessels in the back of the eye and the brain. It leads to an ultimately fatal barrage of symptoms that begins around age 45 and includes vision loss, mini-strokes, and dementia. The disease is fatal within ten years of onset. The researchers said there goal is now to find a treatment for the disorder.
COLON CANCER: RESEARCHERS LINK DISEASE TO HORMONE DEFICIENCY
Researchers at the Kimmel Cancer Center at Jefferson in Philadelphia have found new evidence suggesting that colon cancer is actually a disease of missing hormones that could potentially be treated by hormone replacement therapy. Their findings, reporting in the journal Gastroenterology, a protein receptor on the surface of intestinal epithelial cells for two hormones, guanylin and uroguanylin, can suppress tumor formation. These hormones regulate the growth of intestinal epithelial cells. They said early in colon cancer development, these growth-controlling hormones are "lost" and not expressed, disrupting the receptor's activity.
SCHIZOPHRENIA: HALLUCINATIONS LINKED TO AREA IN BRAIN THAT PROCESSES VOICES
Researchers using magnetic resonance imaging have found for the first time both structural and functional abnormalities in specific brain regions of schizophrenic patients who experience chronic auditory hallucinations, according to a study published in the journal Radiology. The results showed abnormalities in specific areas of the brain associated with the capacity to process human voices, said researchers at the University Hospital in Valencia, Spain. Schizophrenia is a chronic, severe, and disabling brain disorder that affects approximately 1 percent of the global population. People with schizophrenia often experience hallucinations, delusional thoughts, paranoia, disorganized thinking, and other cognitive difficulties.
VISION: FISH EYES COULD HOLD CLUE TO REPAIRING DAMAGED RETINAS
A special type of cell found in the eye has been found to be important in regenerating the retina in zebra fish and restoring vision even after extensive damage. Now, a U.K. team of scientists from the University College London Institute of Ophthalmology and Moorfields Eye Hospital believe they may be able to use these cells—known as Müller glial cells—to regenerate damaged retina in humans. Retinal damage is responsible for the majority of cases of blindness. Diseases damaging the retina—including macular degeneration, glaucoma, and diabetes—are responsible for blindness in 75 percent of registered blind persons in the United Kingdom. The study, published in the journal Stem Cells, suggests Müller cells with stem cell properties could potentially restore sight to someone who is losing or has lost their sight due to a diseased or damaged retina.
LUPUS: CONTROLLING STRESS HELPS FIGHT CHRONIC DISEASES
A study conducted in the Department of Medicine at the University of Granada determined that daily stress, which occurs in circumstances of little importance but of high frequency, could exacerbate the symptoms of patients suffering from lupus. Lupus is an autoimmune disease that produces antibodies causing injuries to the body's cells and tissue. The researchers said controlling the stress level of those suffering from this disease reduced its negative effects, such as inexplicable loss of weight, feeling of fatigue, continuous fever or pain and inflammation in joints.
TUBERCULOSIS: MEDICAL RESIDENTS UNCLEAR ABOUT TB GUIDELINES
Medical residents in the United States are not proficient at diagnosing and managing tuberculosis, according to a study from researchers at Johns Hopkins University School of Medicine. In a report published in the online journal BMC Infectious Diseases, the researchers report that half of medical residents in Baltimore and Philadelphia, which have a moderate prevalence of TB, answered just under half of a 20-question survey on TB correctly. As physicians training at urban medical centers are likely to be the first point of contact for patients with previously undiagnosed TB, the researchers said it is important that they are properly trained in spotting and treating this infectious disease.
HEART ATTACK: SOME PATIENTS NOT GETTING CLOT-BUSTING TREATMENT
Far more of today's heart attack patients receive emergency angioplasty treatment or clot-busting drugs to re-open their clogged heart arteries than even a decade ago, cardiologists at the University of Michigan and Yale University School of Medicine report. But 10 percent of patients who could benefit from this urgent treatment—which is known to save lives and prevent lasting damage to the heart muscle—don't get it at all, according to the study published in the American Journal of Medicine. The patients most likely to miss out on potentially life-saving emergency treatment were those patients whose heart attack symptoms don't include typical symptoms, such as chest pain, those who didn't reach the hospital until six or more hours after the start of their attack, women, people over age 75, and non-white people.
STATINS: CHOLESTEROL-LOWERING DRUGS DON'T OFFSET HEALTHY CHOICES
Within the medical field, it is often assumed that patients view cholesterol-lowering statins as a license to eat whatever they like. The assumption is they figure their medication has them covered, so a steak here and there won't hurt. However, a study published in the journal Mayo Clinic Proceedings finds that such patients don't tend to adopt unhealthy diets when prescribed statins. Researchers also found that some patients were placed on cholesterol-lowering drugs before they'd made a good faith effort at improving their lifestyle to better their health. And some said they would have preferred starting with lifestyle alterations rather than medication. The researchers said physicians should reconsider how they're treating patients who seek preventive care for cardiovascular disease, namely by giving up their long-held assumptions about them.
MARIJUANA: THC MAY ENHANCE KAPOSI'S SARCOMA-CAUSING VIRUS
The major active component of marijuana could enhance the ability of the virus that causes Kaposi's sarcoma to infect cells and multiply, according to a team of researchers at Harvard Medical School. The researchers said low doses of Ä-9 tetrahydrocannabinol, or THC, equivalent to that in the bloodstream of a marijuana smoker, could be enough to facilitate infection of skin cells and could even coax these cells into malignancy. While most people are not at risk from Kaposi's sarcoma herpes virus, researchers say those with lowered immune systems, such as AIDS patients or transplant recipients, are more susceptible to developing the sarcoma as a result of infection. The findings, reported in the journal Cancer Research, offer cautionary evidence that those with weakened immune systems should speak with their doctors before using marijuana medicinally or recreationally.
HEALTHCARE: HOUSE VOTES TO EXPAND COVEAGE FOR KIDS, CUT PAYMENTS TO HMOs
The House of Representatives voted for a five-year, $50-billion expansion of the State Children's Health Insurance Program, which covers 6 million more lower-income children and cut federal payments to Medicare HMOs, the Associated Press reported. The expansion of the program will cover an addition 5 million children. The 225 to 204 vote, which closely followed party lines, came despite the threat of a veto from President George Bush. The legislation, driven by the Democrats, reverses years of Republican-sponsored changes to Medicare. The bill would make deep cuts in federal payments to private insurance companies that cover elderly and disabled patients under Medicare and shift money to doctors and benefits for lower-income beneficiaries. The rest of the children's health increase would come from hefty increases in taxes on tobacco products. The Senate subsequently approved a $35 billion expansion of the program.
HEALTHCARE REFORM: NATIONAL QUALITY AGENDA, PAYMENT REFORM KEY TO IMPROVING QUALITY AND SAFETY
More than half of healthcare leaders support the creation of a public-private entity to coordinate quality efforts and form a national quality agenda, according to a survey about healthcare quality and patient safety concerns from the Commonwealth Fund. The survey questioned experts in healthcare from academia, research organizations, government, healthcare delivery, business, insurance and others involved in the healthcare industry. A total of 95 percent of those surveyed believe that fundamental payment reform is needed and nearly three-fourths (73 percent) said that greater organization and integration of provider care is necessary for improved quality and efficiency.
.gif)
