Home Page
About Us
We Are Able
Clients
Did you Know?
What's New!
Self Test
Disorders
Hot Links / Sites
Contact Us

August 2004 - World Wide Web Award Bronze Winner Janice Stewart, wAW, WCW, Certified Webmaster
The American Association Of Webmasters Bronze Award - July 2004
Janice Stewart - Member: The American Association of Webmasters

Charcot-Marie-Tooth gene mutation found

June 2010

HOUSTON - HealthDay News noted that by analyzing the genome of a colleague with Charcot-Marie-Tooth syndrome, scientists identified gene mutations tied to the neurological disorder, which affects nerve function in the limbs, hands, and feet.  The study online at the New England Journal of Medicine, used sequencing the whole genome of Dr. James Lupski, vice chairman/molecular and human genetics, at Baylor College of Medicine.  Scientists found he has different mutations in the copies of gene SH3TC2 he inherited from his parents.  Neither parent has CMT, but four of their children have the gene mutations and CMT.  "This is the first time we have tried to identify a disease gene this way," Dr. Lupski stated.  "It (shows) the technology is robust enough that we can find disease genes by determining the whole genome sequence.  We can use this technology to interpret the clinical information in the context of the sequence - of the hand of cards you have been dealt.  Isn't that the goal or dream of personalized genomic medicine?"  Dr. Lupski and his team found that a person who carries only one of the recessive mutations is susceptible to carpal tunnel syndrome.  "I wonder how often this occurs," he said.  "People who carry one gene for a recessive disease may have susceptibility for complex traits."

TORONTO - Intravenous immunoglobulin (IVIG) treatment in those with mild-moderate Alzheimer's disease slowed significantly cognitive decline and brain atrophy, scientists told MedPage Today.  In a small, 18-month study, patients treated with IVIG had a decline of just slightly more than five points from baseline in cognitive scores on the Alzheimer's Disease Assessment Scale versus a 15-point decline in patients who initially received placebo and later switched to IVIG, reported Dr. Norman Relkin, of Cornell Weill College of Medicine in New York.  IVIG appeared to lower ventricular enlargement within patients' brains, a result of brain atrophy, he said at the American Academy of Neurology meeting.  "This is the first Alzheimer's clinical trial to report a correlation between long-term treatment benefits and lower ventricular enlargement rates," he stated.  The report confirmed preliminary results he reported from the study in 2008.  Those receiving IVIG for the full 18 months had a mean 46% decline in growth of the ventricular space, said Dr. Relkin.

MINNEAPOLIS - Children and adolescents with chronic ills - mental or physical - are at greater risk for self-harm, suicidal ideas, and suicide attempts, scientists told MedPage Today.  Children with chronic physical conditions had about a 20% higher risk of the three outcomes, versus those who reported no chronic conditions, stages Dr. Andrew Barnes, and colleagues at the University of Minnesota.  Those with chronic mental woes were at more than double the risk, while those with physical and mental conditions had an even greater risk of attempted suicide, Dr. Barnes and his team wrote in Pediatrics.  The team analyzed the 2007 Minnesota Student Survey  done in the sixth, ninth, and 12th grades - with 136,549 respondents ages 10-19.  Roughly 3% of surveys were eliminated from final data due to absent gender data, highly-inconsistent responses, or response patterns suggesting exaggeration or falsification.  Overall, 22,662 (17.3%) of respondents reported a history of self-harm, 29,120 (22.4%) had a history of suicidal ideation, and 7,666 (5.9%) reported having attempted suicide.

TORONTO - Moderate physical exercise and computer use late in life is related to lower risk of mild cognitive impairment, a scientist told MedPage Today.  In a cross-sectional analysis of those in an aging study, both elements were tied separately to lower risk of impairment, said Dr. Yonas Geda, of the Mayo Clinic in Rochester, MN.  Results showed a significant factor: interaction that created a synergistic effect, Dr. Geda said at a meeting of the American Academy of Neurology.  Conversely, he argued, it's difficult to assign cause and effect based upon a cross-sectional study.  For instance, "maybe a person who can use a computer doesn’t have cognitive issues (while) a person with cognitive issues may shy away from computers."  The finding of the synergistic interaction comes from the population-based Mayo Clinic Study of Aging, he said.  For this analysis, a random sample of 926 elderly participants, 70-90, did questionnaires on physical exercise, cognitive activities, and caloric intake during the previous year.

WASHINGTON - Older Americans with chronic woes can learn how to manage their ills and control their health using $27 million in grants unveiled by the U.S. Dept. of Health and Human Services Sec. Kathleen Sebelius.  Funded by the American Recovery and Reinvestment Act of 2009, the Communities Putting Prevention to Work Chronic Disease Self-Management Program, will allow 45 states, Puerto Rico, and the District of Columbia to offer self-management programs to older adults with chronic diseases build statewide delivery systems and develop the workforce which yields these programs.  "The number of older adults with chronic conditions will increase dramatically in the coming years as our aging population grows," said Asst. Sec. for Aging Kathy Greenlee, whose Administration on Aging will manage the grants.  The Stanford University Chronic Disease Self-Management Program - the model for this initiative – stresses a patients’ role in managing their illness and building their self-confidence so they can be successful in adopting healthy behaviors.

NEW YORK - Health.com noted some anti-seizure drugs for epilepsy, and depression, chronic pain, migraine, bipolar disorder, and other ills are related to a higher risk of suicide and violent death than other drugs in the same class, a study found.  Experts caution patients shouldn’t stop taking Neurontin, Lamictal, Trileptal, Gabitril, and Depakote without their doctor's permission.  It isn’t clear whether these risks are related to the drugs or underlying mood problems.  Suicidal thinking and acts are "very, very rare," says Dr. Carl Bazil, a professor of clinical neurology and the director of the Columbia Comprehensive Epilepsy Center.  The study was funded by the Harvard School of Public Health and HealthCore, a subsidiary of WellPoint, a health benefits company that serves the Blue Cross/Blue Shield network.  The study in the Journal of the American Medical Association, echoes a 2008 review by the U.S. Food and Drug Administration, which found taking anticonvulsants (these drugs) roughly doubled the risk of suicidal thoughts and attempts, although the absolute risk remained small.

CHICAGO - HealthDay News noted scientists have long thought marriage is good for your health, but it’s been less clear how you’ll fare if you lose your spouse to divorce or death.  A study shows that scenario spells trouble, even if you marry again.  In fact, people who ceased being married at some point were significantly more likely to have chronic health issues than those who stayed married, scientists found.  It isn’t clear if marriage’s end directly affects health or if some other factor is at play.  Still, "marital loss does seem to be a powerful force damaging health," said sociologist and study co-author Linda Waite.  "It seems to work about the same way for men and women, and for emotional well-being and physical health."  Sociologists found marriage appears to boost health, especially among men, said Waite, director of the University of Chicago's Center on Aging.  Married men, she said, have better prospects of surviving after surgery and live longer than unmarried men.  "There's really tremendous research that shows this helps health," she said.  The findings were in the Journal of Health and Social Behavior.

CALGARY, CANADA - HealthDay News noted female stroke patients deprived of clot-busting drug plasminogen activator (tPA) have worse results than men who don't get the drug, a study in the journal Neurology claims.  "Women need to be treated as soon as possible.  We found (untreated) women had a worse quality of life after stroke than men.  The good news: women responded just as well as men to the treatment," study author Dr. Michael Hill, of the University of Calgary, stated.  Dr. Hill and colleagues analyzed data on more than 2,100 stroke patients; of 232 patients treated with tPA within three hours after their stroke, 44% were women.  Only 58% of women who didn't get tPA had a good outcome six months after their stroke versus 70% of men without the drug.  Women and men treated with tPA after their stroke had similar outcomes.  "There could be many reasons why women who weren't treated with the clot-busting drug fared worse, including biological reasons," Dr. Hill said.  "One social reason may be that more than 30% of women were widowed (versus) 7% of men at the time of stroke, and didn’t have a spouse who could act as a caregiver.  Also, post-stroke depression is more common in women than in men, which slows recovery."

NEW ORLEANS - TIME.com reports telepsychiatry (TP) is growing in mental health, says Dr. Kathleen Myers.  As director of the telemental health service at Children's Hospital, she notes a videoconference benefit: doctors see a patient's facial expressions and body language.  "You can talk back and forth in real time - it's off a millisecond - you get immediate reactions," says Dr. Myers, with a $3 million grant from the U.S. National Institute of Mental Health (NIMH), is doing the first large federally-funded clinical trial to set effectiveness of TP in treating mental health woes in childhood.  The TP rise comes largely from need.  The American Academy of Child and Adolescent Psychiatry (AACAP) states 7-12 million youths suffer mental, behavioral, or developmental disorders.  A new national survey, funded partly by NIMH, reveals 50% of U.S. children with certain mental ills such as generalized anxiety disorder and depression aren’t treated by a psychiatrist or other mental health professional.  "There aren’t enough doctors to go around," says Dr. Martin Drell, child psychiatry head at Louisiana State University's health science center and AACAP's president-elect.  For example, in Michigan's Upper Peninsula, the hospital doesn't have a child psychiatrist.

PALO ALTO, CA - Heavy drinking and HIV infection as one degrade certain types of memory much more than either condition alone, scientists told MedPage Today.  A study funded by the National Institute on Alcohol Abuse and Alcoholism found episodic memory, not working memory, show major decline in alcoholics with HIV versus normal controls, nonalcoholic HIV patients, and HIV-uninfected alcoholics, said Dr. Edith V. Sullivan, of Stanford University, and colleagues.  The impairment in episodic memory - ability to remember data for more than 30 seconds - was seen both at baseline and after one year, scientists disclosed online at Alcoholism: Clinical and Experimental Research.  Specific patterns of memory deficits suggested the main problem for alcoholic HIV patients involved initial storage of information rather than its subsequent retrieval.  In general, memory test scores for the individuals with single diagnoses (either alcoholism or HIV infection) did not differ from those of normal controls.  Dr. Sullivan and her team caution against interpreting the study to mean alcoholism or HIV infection alone don’t impair cognitive function.

FLORENCE, ITALY - Regular neurocognitive screening and MRI scans may spot patients with so-called benign Multiple Sclerosis (MS) who will have significant disabilities soon, scientists told MedPage Today.  For 63 patients diagnosed with benign MS at baseline, 29% had disabling symptoms during five years follow-up, said Dr. Maria Pia Amato, of the University of Florence, and her team online at Neurology.  The study was funded partly by the Associazione Italiana Sclerosi Multipla.  The team found T1-weighted brain lesion volume detected on MRI scans, the number of neurocognitive tests failed at baseline, and male gender, were each significantly predictive of disease.  A model with all three predictors distinguished those who progressed with accuracy of 82%, they reported.  Some people show certain signs of MS but go 10 years or more without showing disability.  "Benign MS" has been applied to those signs, but neurologists debate whether it fits, although many of these patients eventually lose peripheral motor function and show other MS-related disabilities.  "Correct and early identification of these patients is crucial as it may provide valuable information in the therapeutic decision-making process," the team said.

MONTREAL - Blueberry juice, with a little added bacteria, may one day help people fight obesity and diabetes, HealthDay News reported.  Canadian scientists found juice "biotransformed" with bacteria from the fruit's skin cut hyperglycemia in diabetic mice and protected young pre-diabetic mice from obesity and diabetes, stated a study online at the International Journal of Obesity.  "Results clearly show biotransformed blueberry juice has strong anti-obesity and anti-diabetic potential," senior author Pierre S. Haddad, a pharmacology professor at the University of Montreal's Faculty of Medicine, stated.  "Biotransformed blueberry juice may represent a novel therapeutic agent."  The bacteria Serratia vaccinii, a new strain isolated from the blueberry, seemed to work by enhancing the fruit's natural antioxidant effects.  The blood glucose levels of lab mice, which were predisposed genetically to obesity, insulin resistance, diabetes, and hypertension fell 35% after three days of drinking the super juice.  "These mice were an excellent model that closely resembles obesity and obesity-linked type 2 diabetes in humans," Haddad added.

TORONTO - A breakthrough by an team of scientists in Canada, France, England, and Denmark uncovered a gene which could lead to better treatment of type 2 diabetes, plus a better understanding of how this widespread disease develops.  ScienceDaily noted that unlike most genes that have been shown to cause diabetes, the new gene - Insulin Receptor Substrate 1 (IRS1) - doesn't affect how insulin is created in the pancreas, rather how the body responds to insulin in the bloodstream, say scientiusts, whose work was in Nature Genetics.  "Most of the genes we've identified as diabetes risk genes reduce the function of the pancreas, specifically of beta cells in the pancreas that make insulin," said Dr. Robert Sladek, of McGill University and the Génome Québec Innovation Centre, in Montreal, an author of the paper.  "IRS1 reduces the effect of insulin in muscles, liver, and fat, a process called insulin resistance."

SEATTLE - For writing, apparently the pen is mightier than the computer keyboard, ScienceDaily noted.  Second, fourth, and sixth grade children with/without handwriting disabilities were able to write more and faster with a pen than a keyboard to compose essays.  A study headed by Virginia Berninger, University of Washington professor of educational psychology, checked kids’ ability to write the alphabet, sentences, and essays using a pen and a keyboard.  "Children consistently did better with a pen when they wrote essays.  They wrote more and faster," she said.  Only for writing the alphabet was the keyboard better than the pen.  For sentences, results were mixed.  With a pen, kids in all three grades had longer essays and wrote them at a faster pace.  Fourth and sixth graders wrote more complete sentences with a pen.  The ability to write complete sentences wasn’t affected by their spelling skills.  The study showed many kids don't have a reliable idea of a sentence until the third or fourth grade.  "Children have to understand what a sentence or a complete thought is before they can write one," Berninger said.
  Home     About Us     We Are Able     Clients     Did You Know?     What's New!     Self Test     Disorders     Hot Links / Sites     Contact Us  
Web Site Designed & Maintained by Janice Stewart.