
ROCHESTER, Minn. — For nearly a decade, breast cancer researchers studying the hormone therapy tamoxifen have been divided as to whether genetic differences in a liver enzyme affect the drug's effectiveness and the likelihood breast cancer will recur. A new study by researchers from the Mayo Clinic Cancer Center and the Austrian Breast and Colorectal Cancer Study Group provides evidence that genetic differences in the enzyme CYP2D6 play a key role in how well tamoxifen works. MULTIMEDIA ALERT: Video of Dr. Goetz is available on the Mayo Clinic News Network. "Our findings confirm that, in early breast cancer treated with tamoxifen, genetic alterations in CYP2D6 lead to a higher likelihood of recurrence and death," says Mayo Clinic oncologist Matthew Goetz, M.D., lead author of the study in the journal Clinical Cancer Research. In the clinical trial, Dr. Goetz and his colleagues studied the rates of cancer recurrence and death in two groups: postmenopausal women with primary estrogen receptor-positive breast cancer who received tamoxifen for five years and those who received tamoxifen for two years followed by the aromatase inhibitor anastrozole for three years. Anastrozole is a breast cancer drug whose metabolism does not require the CYP2D6 enzyme. The study showed that women who were born with genetic alterations of CYP2D6 that abolish the enzyme's critical metabolizing activity and who took tamoxifen for five years had recurrence of breast cancer, or died at a rate 2.5 times higher than women with normal CYP2D6 enzyme activity. Women with intermediate levels of the CYP2D6 enzyme had rates of recurrence or death 1.7 times higher than women with normal CYP2D6 activity. Importantly, Dr. Goetz notes, that genetic alterations in CYP2D6 did not affect the likelihood of recurrence or death in women who switched to anastrozole after two years of tamoxifen. "Switching from tamoxifen to an aromatase inhibitor may be one reason for the discrepant studies surrounding CYP2D6 and tamoxifen — as information about whether a patient took an aromatase inhibitor after tamoxifen was not available in most of the prior studies," says senior author James Ingle, M.D., of Mayo Clinic, an expert on hormone therapies for breast cancer. A blood test can determine whether a woman has alterations in CYP2D6 and predict how efficiently her body will convert tamoxifen to endoxifen. Approximately 5 to 7 percent of European and North American populations are considered poor metabolizers of tamoxifen. "The results of this successful high-level international research collaboration are an important step forward in our quest to individualize breast cancer treatment and provide tailored care to women with breast cancer," says Michael Gnant, M.D., professor of surgery at the Medical University of Vienna and president of the Austrian study group. So what should a woman do if she is unable to effectively metabolize tamoxifen into its most active form? Dr. Goetz believes that the current recommendation of switching from tamoxifen to an aromatase inhibitor is likely to result in the greatest benefit in women with decreased CYP2D6 metabolism. For CYP2D6 poor metabolizers, avoiding tamoxifen altogether and starting out with an aromatase inhibitor may be the best approach, he says. Dr. Goetz's group is working with the National Cancer Institute to develop endoxifen as an alternative to tamoxifen. If women can be given endoxifen, the active part of tamoxifen, it won't matter how tamoxifen gets metabolized, he says. The study is partially funded by the National Institutes of Health, co-authors include Vera Suman, Ph.D.; Tanya Hoskin; Mary Kuffel; Stephanie Safgren; Carol Reynolds, M.D.; Matthew Ames, Ph.D.; and Richard Weinshilboum, M.D., all of Mayo Clinic; Martin Filipits, Ph.D.; Raimund Jakesz and Margaretha Rudas of the Medical University of Vienna; Richard Greil and Otto Dietze of Paracelsus Medical University, Salzburg, Austria; and Alois Lange and Felix Offner of Medical Hospital Feldkirch, Austria.
PHOENIX — In what is a first for the Valley in more than two decades, a 17-year-old girl from Glendale, Ariz., became the recipient of a pediatric liver transplant on Dec. 6, the result of collaboration between Phoenix Children's Hospital and Mayo Clinic in Arizona. It is also the first living donor pediatric liver transplant in the Valley. The milestone surgery was all the more unique in that it was a living donor liver transplant, meaning that a donor offered to give up part of her liver to be transplanted into the recipient. Both the donor and the recipient livers will regenerate within a matter of weeks. The donor, a 35-year-old woman from Oklahoma, underwent comprehensive medical and psychological testing to be qualified as a match for the recipient. The donor is the godmother of the recipient, and has known her since she was born. The first surgery began at Mayo Clinic Hospital at 7:30 a.m. when part of the donor's liver was removed in a 3½ hour procedure led by David Mulligan, M.D., Director, Transplant Center, Mayo Clinic in Arizona. The partial liver was put on ice and transported to Phoenix Children's Hospital, where it was transplanted into the recipient. Pediatric liver transplants are primarily done when the child has primary liver disease that may progress to death, with the risk of death that outweighs the risk of transplantation. The recipient's surgery was led by Winston Hewitt, M.D., liver transplant surgeon at Mayo Clinic and surgical director of the Phoenix Children's Hospital Pediatric Liver Transplant Program. Medical director of the program is Tamir Miloh, M.D., Phoenix Children's Hospital. Both patients were reported to be doing well following the combined 8½ hour surgeries. The program marks the only such pediatric program in the Phoenix area for pediatric patients. Previously, patients had to travel to Tucson or out-of-state for the surgery. Certification for the Phoenix Children's Hospital Pediatric Liver Transplant Program was granted by the United Network for Organ Sharing in March 2012, paving the way for the first such program in Arizona to provide an integrated, child-centered liver transplant program that takes place within a dedicated pediatric hospital.
The HAIL consortium researches and develops programs aimed at enhancing older Americans' health and quality of life Volunteer residents at Charter House Continuing Care Retirement Community participate in research and pilot programs designed to help seniors live independently ROCHESTER, Minn. — Mayo Clinic announced UnitedHealthcare as the newest member of the Healthy Aging and Independent Living (HAIL) consortium. The HAIL consortium, composed of Midwest businesses and organizations including Best Buy, General Mills and Good Samaritan Society, develops new products, services and technologies aimed at enhancing older Americans' health and quality of life. UnitedHealthcare will help test new services, care models and technologies that include connection and engagement, such as email and video communications, as well as home safety, and other health and wellness programs. Established in September 2011, the HAIL initiative conducts its research in a "living lab" located in Charter House, a continuing care retirement community in Rochester. The Mayo Clinic Center for Innovation (CFI), Mayo Clinic's Robert and Arlene Kogod Center on Aging and Charter House created a space where Charter House residents and volunteers from other community agencies can participate in creating and piloting new programs developed "in-house" and aimed at supporting healthy aging in place — helping seniors remain at home, healthy and independent. There are currently about 40 million people in the U.S. over the age of 65, and that number is estimated to increase to 70 million by 2030, according to the U.S. Department of Health and Human Services, Administration on Aging. "From initial discovery through delivery to patients, Mayo Clinic has the ability to conduct every phase of research in-house," says Nicholas LaRusso, M.D., medical director of the Center for Innovation. "Making our research even more effective is our continual effort to make sure the patient is front and center and that the medical practice is informing the research. The HAIL Lab is a place to try out and test new products and services with real consumers." "UnitedHealthcare is grateful for the opportunity to partner with Mayo Clinic and other organizations to explore and develop programs and services that will help seniors live healthier lives," says Jeff Shoemate, vice president of Innovation & Business Development, UnitedHealthcare Medicare & Retirement. UnitedHealthcare is dedicated to helping people nationwide live healthier lives by simplifying the health care experience, meeting consumer health and wellness needs, and sustaining trusted relationships with care providers. The company offers the full spectrum of health benefit programs for individuals, employers and Medicare and Medicaid beneficiaries, and contracts directly with more than 650,000 physicians and care professionals and 5,000 hospitals nationwide. UnitedHealthcare serves more than 38 million people and is one of the businesses of UnitedHealth Group (NYSE: UNH), a diversified Fortune 50 health and well-being company.
ROCHESTER, Minn. — Mayo Clinic announced today that it will receive funding through the Biomarkers of Gut Function and Health program within the Grand Challenges in Global Health initiative. This initiative was launched by the Bill & Melinda Gates Foundation to overcome persistent bottlenecks preventing the creation of new and better health solutions for the developing world. William Faubion, M.D., a Mayo Clinic gastroenterologist, will continue to pursue a research project titled "Gut Permeability in Environmental Enteropathy." MULTIMEDIA ALERT: A video interview with Dr. Faubion is available for journalists to download on the Mayo Clinic News Network. "Our team at Mayo Clinic is excited about the opportunity to impact this devastating global health problem, and given this unique partnership between our pediatric population and that of the developing world, this project will truly be about kids helping kids," says Dr. Faubion. The goal of the Biomarkers of Gut Function grant program is to identify and validate biomarkers that can assess gut function and guide new ways to improve the health and development of children in the developing world. Dr. Faubion's project is one of seven grants recently announced. "Safeguarding the health of young children is one of the world's most urgent priorities and a core focus of our work," says Chris Wilson, Director of Discovery & Translational Sciences at the Bill & Melinda Gates Foundation. "We hope the suite of grants announced today will give us a deeper understanding of the reasons underlying stunted growth in children in the developing world and how this can be predicted to guide new approaches to improve the health and development of these children." Environmental enteropathy is a disease of the small intestines of infants. It is a condition that affects approximately 146 million infants in developing countries. The condition disturbs digestion and absorption of nutrients, which leaves the infants malnourished. This malnourishment inhibits growth and development, which affects the children throughout their lifetimes. "These kids never reach their full potential," explains Dr. Faubion. "The trouble for physicians is how to identify the infants with enteropathy." This study hopes to define a simple test that can be used to identify afflicted infants.
ROCHESTER, Minn. — Painless swollen legs are relatively common and usually easily managed. But, according to the December issue of Mayo Clinic Health Letter, this condition — called peripheral edema — is sometimes associated with a more serious underlying disease. Edema is the result of excess fluid in the tissues. Normally, the blood vessels, lymph systems and tissues surrounding these vessels maintain a balance of fluid. When these forces are out of balance, the tiniest blood vessels (capillaries) may leak fluid that ends up in surrounding tissues, causing swelling. Other edema symptoms may include skin that is stretched or shiny; skin that stays indented after being pressed for at least five seconds; and an increase in abdomen size. Edema can affect the lungs and cause shortness of breath that requires immediate medical care. Mild peripheral edema, without serious symptoms such as shortness of breath or high blood pressure, is usually the result of not-so-worrisome causes including: Too much salt consumption the previous day Age — older age increases susceptibility to swollen legs Being overweight Standing or sitting for extended periods of time
ROCHESTER, Minn. — Changes in the color or texture of the tongue — even a tongue that appears hairy — usually aren't serious health concerns. The December issue of Mayo Clinic Health Letter reviews some common and more unusual changes that can occur to the tongue and the papillae, the tiny raised red dots that cover the tongue. Common conditions include: Geographic tongue: With this condition, areas of papillae become white and more pronounced. The result is a "map" of red, white and pink patches on the tongue. Usually, there are no other symptoms, though some people may be sensitive to hot or spicy foods. This sensitivity can be improved with a topical steroid gel or soothing mouth rinse. Hairy tongue: Dead cell skins can accumulate between elongated papillae, usually at the middle and back of the tongue. These cells can resemble tan to black hair. Hairy tongue sometimes causes bad breath or a bad taste. Smokers and people with poor oral hygiene are more likely to experience hairy tongue. It can be treated with daily brushing of the tongue and the use of a tongue scraper. Fissured tongue: Natural grooves on the tongue may become more pronounced with age or with certain diseases such as psoriasis or Sjogren's syndrome. The grooves aren't a concern unless bacteria become trapped in them, causing inflammation. Gentle brushing of the grooves prevents bacterial buildup. Less common tongue problems merit a trip to the physician for diagnosis and treatment. Some of these conditions include: Median rhomboid glossitis: A fungal infection can cause small areas of smooth and shiny tongue tissue, usually in the middle back of the tongue. Burning and itching may occur. Antifungal medications are used to treat this condition. Smooth tongue (glossitis): The papillae shrink or disappear, causing the tongue to appear smooth and shiny. Tenderness or sensitivity to spicy food may occur. Often, glossitis is caused by a deficiency of iron, folic acid or other vitamins. Treatment involves addressing the nutrition deficiency. Burning tongue: A burning sensation on the tongue occurs and worsens as the day progresses. Conditions such as Sjogren's syndrome, diabetes, underactive thyroid, oral yeast infection or dry mouth can cause burning tongue. Burning tongue also can be related to medications that cause dry mouth. Treatment focuses on managing the underlying condition. Tongue cancer: This usually appears as a thickened white or red patch, nodule or sore on the side or underside of the tongue. Tobacco, alcohol use and aging are primary risk factors. Treatment involves surgery, radiation therapy and sometimes chemotherapy.
ROCHESTER, Minn. — A generation ago, rheumatoid arthritis almost always led to disfigured joints and severe disability. Today, this disease still causes joint damage, discomfort and disability. But the risk of disability can be dramatically reduced when drugs that modify the immune system are started soon after the disease begins, according to the December issue of Mayo Clinic Health Letter. Rheumatoid arthritis occurs when the immune system attacks joint linings (synovial membranes) that protect and lubricate the joints. The joint linings become inflamed and feel warm, painful and swollen. Muscle aches and fatigue may also occur. The onset can be sudden or subtle, involving swelling in only one or two joints. When joint swelling occurs and lasts more than two weeks, it's important to see a physician. Persistent inflammation can lead to changes that damage cartilage, bone, tendons and ligaments. Medications can slow or stop this destructive process. Aggressive drug treatment for rheumatoid arthritis starts as soon as possible. With several choices for medication, doctors increase dosages of drugs used — or add or take away drugs from the mix — until remission or very low disease activity is achieved. The intensity of early treatment improves the odds of remission. The longer the active disease persists, the less likely it will respond to drug therapy. Exercise will very likely be part of the treatment plan, too. Older adults with rheumatoid arthritis — especially those newly diagnosed — are at risk of muscle weakness caused by the disease. A physical therapist can design an exercise program to strengthen muscles, increase exercise capacity and avoid joint irritations. Without safe exercise, a decline to disability can occur quickly, sometimes within weeks.
ROCHESTER, Minn. — Fibromyalgia is a complex illness to diagnose and to treat. There is not yet a diagnostic test to establish that someone has it, there is no cure and many fibromyalgia symptoms — pain, fatigue, problems sleeping and memory and mood issues — can overlap with or get mistaken for other conditions. A new Mayo Clinic study suggests that many people who have fibromyalgia, especially men, are going undiagnosed. The findings appear in the online edition of the journal Arthritis Care & Research. More research is needed, particularly on why men who reported fibromyalgia symptoms were less likely than women to receive a fibromyalgia diagnosis, says lead author Ann Vincent, M.D., medical director of Mayo Clinic's Fibromyalgia and Chronic Fatigue Clinic. "Health care providers may not think of this diagnosis when face to face with a male patient with musculoskeletal pain and fatigue," Dr. Vincent says. "These findings need to be explored further." Researchers focused on Olmsted County, Minn., home to a comprehensive medical records pool known as the Rochester Epidemiology Project, and used multiple methods to try to get at the number of people over age 21 with fibromyalgia. They used the epidemiology project to identify just over 3,000 patients who looked like they might have fibromyalgia: Roughly a third had a documented fibromyalgia diagnosis. That amounted to 1.1 percent of the county's population 21 and older. In the second method, researchers randomly surveyed Olmsted County adults using the American College of Rheumatology's fibromyalgia research survey criteria. The criteria include the hallmarks of fibromyalgia: widespread pain and tenderness, fatigue, feeling unrested after waking, problems with memory or thinking clearly and depression or anxiety, among other symptoms. Of the 830 who responded to the survey, 44, or 5.3 percent, met those criteria, but only a dozen had been diagnosed with fibromyalgia. Based on the study's findings, the researchers estimate that 6.4 percent of people 21 and older in Olmsted County have fibromyalgia — far more than have been officially diagnosed with it. Fibromyalgia is more common in women, but men can get it too. The discrepancy between the number of people reporting fibromyalgia symptoms and the number actually diagnosed with the condition was greatest among men, the study found. Twenty times more men appeared to have fibromyalgia based on their survey response than had been diagnosed, while three times more women reported fibromyalgia symptoms than were diagnosed.
ROCHESTER, Minn. — As youth hockey players careen toward the boards, it is almost instinctive for them to duck their heads. But that is exactly the wrong thing to do. Experts say that this fast, powerful and physical sport can be safer if players follow some simple advice. USA Hockey, the national governing body for the sport, worked with Mayo Clinic to release a video with animation demonstrating the dangers of players ducking their heads as they crash into the boards during play. A training program called "Heads Up, Don't Duck" teaches players to automatically choose the safest posture for impact. MULTIMEDIA ALERT: "Heads Up" animation and video of Dr. Stuart is available on the Mayo Clinic News Network. With more than a half-million U.S. children playing the sport, there is a renewed push to keep them from getting hurt. In collaboration with USA Hockey, the Mayo Clinic Sports Medicine Center has been collecting catastrophic hockey injury data since 2008. Cervical spine fractures are the most prominent injury in the database, and the spine and head are the two most injured body parts. "If you are going to collide with the boards, try to take the impact with any part of your body other than your head," says Michael Stuart, M.D., orthopedic surgeon, co-director of Mayo Clinic's Sports Medicine Center and chief medical officer for USA Hockey. "If you can't avoid head contact, always keep your head up and don't duck. When the head is up, the normal curvature of the spine has more shock-absorbing ability. When the head is down, the spine is straight, which makes it more susceptible to fracture that can damage the spinal cord."
ROCHESTER, Minn. — Many people who have been through cancer and its treatment have trouble with their recovery because of severe, debilitating fatigue that can last for months or even years. But even though a variety of treatments exist for cancer-related fatigue, few doctors are recommending them to patients, according to a recent Mayo Clinic study appearing in Supportive Care in Cancer. MULTIMEDIA ALERT: Video of Dr. Cheville is available on the Mayo Clinic News Network. The study found few of the available treatment strategies are being offered or prescribed by doctors. Regular physical activity, such as walking with a pedometer, has been shown to ease fatigue. Learning stress reduction and coping techniques can help patients alter daily habits and increase restfulness. However, only one-tenth of patients said their oncology teams instructed them to become more active or try other non-medication-related fatigue-reducing measures. More than 35 percent of patients had been offered sleep-enhancing medication, even though drugs have been shown to be the least effective approach. "Fatigue is a factor that not only significantly diminishes quality of life but is also associated with reduced survival," says study author Andrea Cheville, M.D., a physiatrist with the Mayo Clinic Department of Physical Medicine and Rehabilitation. "Our results suggest that cancer patients are not receiving appropriate treatment for a significant and widespread problem." Researchers queried 160 stage IV cancer patients, men and women, who had moderate to severe fatigue (greater than five on an 11-point scale). Participants with lung, breast, colon or prostate cancer were asked whether their oncology teams had mentioned any of the cancer-fatigue treatments recommended by the National Comprehensive Cancer Network guidelines, such as increasing exercise, seeking psychosocial and behavioral help, and medications. Patients were asked about the extent of the information they had received, whether physicians had provided specific counseling, instructions and recommendations or a prescription to address fatigue. While age and gender were not factors in whether patients received treatment for fatigue, their type of cancer was. Only 15 percent of patients with colon cancer and 17 percent with prostate cancer had their fatigue addressed; 48 percent of breast cancer patients had been advised of psychosocial interventions. When researchers asked about patients' habits at home, they found significant room for improvement. "We found the vast majority of patients were not engaging in behavioral practices that could reduce fatigue and potentially enhance quality of life," Dr. Cheville says. "And almost a third reported napping during the day, which can actually worsen fatigue." For Dr. Cheville, whose research focuses on improving the delivery of supportive care to patients, the study provides a wake-up call.
ROCHESTER, Minn. — Mayo Clinic now offers a free app called Mayo Clinic on Pregnancy, available in the Windows Store. MULTIMEDIA ALERT: Video of a patient using the app and an interview with Dr. Harms are available on the Mayo Clinic News Network. Available for desktop/laptop and tablet users on the Windows 8 platform, Mayo Clinic on Pregnancy is a trustworthy guide to pregnancy, childbirth, and baby's first three months. It was developed by Mayo Clinic leveraging the medical and lifestyle expertise of a team of Mayo's pregnancy experts in obstetrics and gynecology, genetics, nutrition, midwifery and lactation. The app also utilizes search, share and semantic zoom features for an improved user experience. "Getting pregnant and becoming a parent are among the most significant experiences in a person's life and can be overwhelming," says Roger Harms, M.D., a Mayo Clinic specialist in obstetrics and gynecology, and senior medical director for operations in Mayo Clinic's Global Business Solutions division. "This app will guide you from conception to delivery, and see you through the first three months with your newborn to give you peace of mind and enhance your sense of wonder throughout the experience." Moms-to-be can simply enter the baby's due date (or birthdate) or the date of their last menstrual period to start receiving weekly lifestyle and health guidance. Mayo Clinic on Pregnancy provides tips and guidance for all aspects of pregnancy, birth and up to 12 weeks postpartum, with all the information expectant parents need to have a safe, healthy pregnancy and early weeks of parenthood. The app also will provide easy navigation to find some of Mayo Clinic's other pregnancy-related resources such as the "Pregnancy and You" blog, the Mayo Clinic Guide to a Healthy Pregnancy, and the Mayo Clinic Guide to Your Baby's First Year.
JACKSONVILLE, Fla. — Researchers at Mayo Clinic's campus in Florida have identified an enzyme specifically linked to aggressive prostate cancer, and have also developed a compound that inhibits the ability of this molecule to promote the metastatic spread of the cancer. Their study, published in the Dec. 18 online edition of Molecular Cancer Research, is the first to link the enzyme PRSS3 to prostate cancer. "This molecule is a protease, which means it digests other molecules. Our data suggests PRSS3 activity changes the environment around prostate cancer cells — perhaps by freeing them from surrounding tissue — to promote malignancy and invasiveness," says the study's senior investigator, Evette Radisky, Ph.D., a cancer biologist in the Mayo Clinic Cancer Center. "I don't think PRSS3 is the only factor involved in driving aggressive prostate cancer, but it may be significant for a certain subset of this cancer — the kind that is potentially lethal," she says. Dr. Radisky and five colleagues at Mayo Clinic in Florida made the discovery by investigating publicly available databases, derived from clinical studies, which contain data on molecules that are upregulated — irregularly switched on — in cancer. They had previously discovered a link between the protease and the earlier stages of breast cancer. The research team wanted to see if any other cancer abnormally expresses this protease, and at what stages so they mined multiple databases. "The link between PRSS3 activity and aggressive prostate cancer jumped out at us," Dr. Radisky says. "We found a definitive trend of increasing PRSS3 expression with cancer progression." Then, in mice models of prostate cancer, the researchers demonstrated that expression of the protease was critical for prostate cancer metastasis. Cancer did not spread in mice in which PRSS3 was silenced. The group had earlier crystallized the structure of the PRSS3 protease, and discovered a place on the enzyme where a small protein therapeutic could bind to plug up the "scissoring" action of the molecule. "The protease has an active site that breaks down other proteins, and our inhibiting agent sticks to the site, shutting it down," Dr. Radisky says. The researchers say their finding suggests several possible future clinical applications.
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