Mayo Clinic
Mayo Clinic researchers have identified a previously unknown form of muscular dystrophy, a group of genetic diseases characterized by progressive weakness and muscle degeneration. This newly identified form develops after age 40 and causes heart muscle damage, limb muscle weakness and nerve damage. The researchers have named the newly defined disorder "zaspopathy" (Zas-PO-path-ee).
Some 50,000 Americans have some form of muscular dystrophy, and there are currently no cures. Mayo Clinic researchers note that their work may help contribute to a cure because it increases the understanding of the muscular dystrophy disease process and the role genes play in it. They say their research is a crucial first step toward discovering treatments, because genes offer a promising target at which aim new therapies. The report on the discovery will appear in the Jan. 26 online version of the journal Annals of Neurology.
A new Mayo Clinic study has for the first time established rates of restless legs syndrome in children, finding that almost 6 percent of children seen in Mayo"s sleep clinic have the disease. The study, published in this month's issue of Annals of Neurology, also notes that the most common risk factors for the disease in kids are family history of restless legs syndrome and iron deficiency. "Restless legs syndrome is underdiagnosed in kids," says Suresh Kotagal, M.D., chair of Mayo Clinic pediatric neurology and a sleep specialist. "If you look at children with difficulty falling asleep, you'll see a fair number have restless legs. Thus far, there have been sporadic case reports, but nobody has studied a larger group of children, looking at children with insomnia complaints as a whole to see how many had restless legs syndrome."
A team of researchers at Mayo Clinic have discovered a gene and six mutations of it that cause symptoms associated with Parkinson's disease and other neurodegenerative disorders. The team found a mutation of the gene, named LRRK2, in members of six families with many individuals affected by Parkinson's disease. Surprisingly, brain autopsy on deceased, affected family members who participated in this research indicate mutations in the LRRK2 gene play a central role in developing pathology characteristic of Parkinson's disease and other neurodegenerative disorders such as Alzheimer's disease and amyotrophic lateral sclerosis (Lou Gehrig's disease).
Mayo Clinic gynecologists have discovered that hysteroscopic sterilization, a new method of plugging the fallopian tubes to prevent conception, will save patients money compared to laparoscopic tubal ligation, the most commonly used method of sterilization for women. This technique involves inserting a nickel-titanium and stainless steel springlike device into the fallopian tubes using a hysteroscope, a tiny, fiberoptic camera. The metal device encapsulates and holds in place white polyester fibers able to cause scarring and thus block the fallopian tubes within 12 weeks, preventing the possibility of future pregnancy.
Obese patients spend twice as much on prescription drugs as those who are overweight, and nearly four times what normal-weight patients spend, according to findings of a new study. The study involved 328 men, average age 47, undergoing comprehensive physical examinations. They were grouped into the customary categories of normal weight, with Body Mass Index (BMI) <25 kg/m2, overweight (2530). Patients with known cardiovascular disease or serious non-cardiac disease were not included.
Mayo Clinic neurologists have discovered a drug application smart enough to alleviate orthostatic hypotension -- problems with sinking blood pressure when standing up from a sitting position -- without the unwanted effect of also causing patients' blood pressure to soar when lying down.
"This is a significant step forward for these patients," says Phillip Low, M.D., Mayo Clinic neurologist and lead study investigator. "This would be a good drug to provide the first line of treatment."
A study of 1,821 patients who had heart attacks between 1982 and 1998 and survived to go home from the hospital, found that nearly half (48 percent) of the deaths within three years of hospital discharge were attributable to not participating in cardiac rehabilitation. ''On average, for patients who participated in cardiac rehab, it was almost as if the heart attack never had happened. They had the same three-year survival as what would be expected from area residents of the same age and sex who had not suffered heart attacks,'' says Veronique Roger, M.D., the Mayo Clinic cardiologist who led the study. ''Increased participation in cardiac rehabilitation could lead to improved survival among a large proportion of heart attack patients.''
Researchers have demonstrated that stem cell therapy repairs damaged heart tissue and aids recovery after heart attack. Most conventional therapies for myocardial infarction -- heart attack caused by suspension of blood flow -- help ensure damage to the heart doesn't progress or recur, but don't repair damage already done. Because embryonic stem cells can generate diverse cell types in the body, including heart cells, the Mayo Clinic researchers investigated whether transplantation of such stem cells could repopulate heart muscle scarred by heart attack and produce a beneficial long-term outcome.
A study based on the tobacco industry's own documents shows the extent of the tobacco industry's efforts to influence the print media on the health effects of secondhand smoke. The Mayo Clinic study involved a review of previously secret internal tobacco company documents that revealed the tobacco industry launched an extensive, multifaceted effort to influence the scientific debate about the harmful effects of secondhand smoke. It purports that the tobacco industry attempted to derail public perception of the Environmental Protection Agency's risk assessment on secondhand smoke by recruiting a network of journalists to generate news articles supporting the industry's position and public relations messages about the secondhand smoke issue.
Mayo Clinic and British researchers have developed a new approach to cancer vaccines that purposely kills healthy skin cells to target the immune system against tumors. The new approach has eradicated skin cancer tumors in mice. The approach and results challenge conventional thinking on the creation of cancer vaccines. Their report on the ''heat shock'' vaccine therapy appears in the August issue of Nature Biotechnology. Results are promising because multiple rounds of treatment eradicated skin cancer in all the mice in the study. If this work can be extended to humans, it could have enormous benefits.
A study conducted by Mayo Clinic found that fears surrounding a connection between coronary artery bypass surgery and dementia are unwarranted. The link between CABG surgery and development of long-term cognitive decline has been controversial in medical literature. ''What we found is that in an observational study of residents of Rochester, Minn., CABG surgery was not a risk factor for dementia,'' says David Knopman, M.D., Mayo Clinic neurologist and the study's lead investigator. ''It was reassuring that the surgery was not associated with increased risk of dementia.''
Researchers have manipulated a human antibody to induce an anti-tumor response in living mice that consistently curbs -- and often cures -- malignant melanoma, one of the most lethal forms of skin cancer and the most common cancer of young adults.
The Mayo Clinic researchers report three innovative discoveries that advance the emerging field of cancer immunotherapy. Cancer immunotherapy refers to scientist-controlled manipulations of the immune system to kill cancer cells without the toxic side effects of chemotherapy or radiation. These findings show that when administered intravenously, the human antibody can still induce immune response -- which suits it for potential therapeutic use as a drug for humans.
Researchers have discovered a gene responsible for the onset of aging, including age-related disorders such as infertility, reproductive problems and cataracts. This research, conducted in genetically modified mice, is promising in helping physicians understand and treat the same disorders in humans. The discoveries came as the result of general investigations into possible genetic causes of cancer. In this case, it was discovered that this particular gene, called BubR1, governs production of a protein that modulates physical aging. The mice studied lacked normal levels of that protein and began to age prematurely.
Obesity is the number one cause of chronic liver disease in the United States. Mayo Clinic researchers have discovered the mechanism that causes liver damage in many obese children and adults: excess fatty acids cause a protein reaction that kills liver cells, causing scarring and liver damage.
Researchers at the Mayo Clinic found they could isolate and culture nanoparticles from filtered homogenates of diseased calcified human cardiovascular tissue. These cultured nano-sized particles were recognized by a DNA-specific dye, incorporated radiolabeled uridine, and after decalcification, appeared via electron microscopy to contain cell walls. The research paper, entitled ''Evidence of Nanobacterial-like Structures in Human Calcified Arteries and Cardiac Valves,'' has been peer-reviewed and is scheduled for publication in the September 2004 issue of the American Journal of Physiology: Heart and Circulatory Physiology.
