Newly discovered details might advance efforts to reverse Rett syndrome, a rare condition that prevents an infant’s brain circuitry from developing. The study, by Lucas Pozzo-Miller, PhD and collegues at UAB, is part of mounting evidence that conditions from autism to Down syndrome need not last a lifetime.
Past studies found that mutations in a single gene, MECP2, are present in 95 percent of children with Rett syndrome (RTT). Previous work in Pozzo-Miller’s lab established that the nerve cells in RTT children have fewer dendritic spines, structures that branch from nerve cells to better pick up signals in the synapses between them. The spines can be counted as a measure of the ability of nerve cells in the hippocampus to relay and store information.
The work proceeds from the idea that experience changes the physical wiring of nerve cells. Cells become more closely wired to neighbors in the nerve pathways most often used, but dwindle when idled. Evidence also suggests that developing brains build the capacity to think and remember by changing connection strength between neurons, with the change reflected in dendritic spine density.
To understand the role of MECP2 malfunction in reducing the number of dendritic spines, the team analyzed its density in mice engineered to lack the MECP2 gene.
They found that mutant mice, too young to have symptoms, had a lower dendritic spine density in hippocampal neurons than their normal counterparts.
Unexpectedly though, the team also found that mice lacking MECP2 grew old enough to become symptomatic and had about the same number of spines on their dendrites as wild type mice. The finding seemed to call into question the validity of dendritic spine density as a measure for lost plasticity-related function in Rett syndrome.
A closer look, however, revealed that dendritic spines in symptomatic mutant mice, while as numerous as those in control mice, were “frozen.” They no longer changed in size, number or shape over time, depending on how much the nerve pathway was stimulated by known triggers like the neurotransmitter glutamate.
“Perhaps the system tries to compensate for the lack of MECP2 function by increasing the number of spines formed through abnormal channels,” Pozzo-Miller said. “This dense, frozen wiring might explain why children with RTT lose cognitive ability and why they have seizures as sensitive but faulty nerve connections overload.”
“The result further validates dendritic spine density as a useful measure for the loss of plasticity in developmental disability, and potentially, of the ability of experimental treatments to restore it,” said Christopher Chapleau, PhD, a post-doctoral fellow in UAB’s Department of Neurobiology and first author on the paper.
OB/GYN Joins Trinity Medical Staff
Robert A. DeSantis, MD, FACOG, has joined the medical staff of Trinity Medical Center. He specializes in obstetrics and gynecology and sees patients in the new Trinity Medical Clinic which opened in Chelsea in February.
After earning his medical degree from The University of Mississippi School of Medicine, DeSantis completed his internship and residency at Tripler Army Medical Center in Honolulu. For the past 13 years has been in private practice in Mississippi.
DeSantis has performed more than 300 cases using the da Vinci Robotic Surgical System. He also specializes in pelvic reconstructive surgery and urinary incontinence, laparoscopic surgery, menopause management, and infertility.
DeSantis is a Diplomate of the American Board of Obstetrics and Gynecology, a Fellow in the American College of Obstetricians and Gynecologists, a member of the American Association of Gynecologic Laparoscopists, and a member of the American Medical Association.
UCP PMR program opens on Homewood campus
United Cerebral Palsy of Greater Birmingham recently opened the UCP Physical Medicine and Rehabilitation program located in Homewood. This program which is directed by pediatric physiatrist Charlie Law, MD, formerly of Children’s of Alabama, offers a variety of specialized services focused on providing comprehensive and coordinated care that reduces the symptoms caused by motor disabilities. Law is one of only two physicians in the state who is certified to treat adults and children through physical medicine and rehab needs.
St. Vincent’s East Nursing Executive Inducted into Hall of Fame
Carol Jefferson Ratcliffe, RN, CNOR, FACHE, vice president of patient care services and chief nursing executive for St. Vincent’s East, has been inducted into the 2011 Alabama Nursing Hall of Fame.
Ratcliffe holds a Bachelor of Science in Nursing from the University of Alabama’s Capstone College of Nursing, a Master of Science in Nursing Administration from UAB, and a doctorate of nursing practice with a focus in administration from Samford University. She is a certified periOperative nurse and is Board Certified in Healthcare Management and a Fellow in the American College of Healthcare Executives. Ratcliffe is an inaugural recipient of the Ida V. Moffett Courage to Care Award, the 2011 Alabama State Nurses Association’s Nursing Administrator of the Year, and listed in Who’s Who in Black Birmingham and Black Alabama.
Medical West Completes Renovations to Women’s Center
Medical West has completed renovations to the Women’s Center. The nurses station and nursery have been remodeled, and all patient rooms have been outfitted with new furniture. The waiting room has been restructured to a more open area.
Lemak Sports Medicine Opens In Hoover
Lemak Sports Medicine and Orthopedics opened a new facility in Hoover on February 6th. Amanda Martin, MD is providing patient care for a variety of orthopedic needs at the facility, which is the 10th clinic Lemak Sports Medicine has opened.
Martin is fellowship trained in Orthopedic Sports Medicine by the American Sports Medicine Institute under the leadership of Lawrence Lemak, MD. She is a graduate of The University of Arizona and completed her Doctor of Osteopathic Medicine at Oklahoma State University. Martin is the medical director for NCAA Soccer Cup, a consultant for Major League Soccer and serves as the team physician for Hueytown High School and Jacksonville State University.
Martin will continue performing surgeries at Trinity Medical Center on Montclair Road in Birmingham.
UAB Brain Tumor Research Named One of Top Advances
A UAB research study on brain tumors has been named one of the top clinical research advances of the year by the American Society of Clinical Oncology.
Markus Bredel, MD, PhD, director of the Radiation Oncology Brain Tumor Laboratory in the Department of Radiation Oncology and scientist in the Neuro-Oncology program at the UAB Comprehensive Cancer Center, published the study, “NFKBIA Deletion in Glioblastomas” in the Feb. 17, 2011, issue of the New England Journal of Medicine.
Bredel’s study was the first to implicate the deletion of a copy of a gene called NFKBIA as a contributing cause of glioblastoma. Mutations in NFKBIA, normally present on chromosome 14 in two copies (one each on the maternally and paternally inherited copies), have been shown to be present in a number of cancers including Hodgkin’s lymphoma, multiple myeloma, melanoma, breast, lung and colon cancer. This was also the first study to associate a deletion of NFKBIA with human cancer and is believed to be responsible for poor patient outcomes; but that could lead to better diagnosis and targeted treatments in the future.
AMA Unveils Improved Practice Management Website
The American Medical Association (AMA) today unveiled a redesigned website for its Practice Management Center, featuring a new layout that is easier to navigate and faster to use. The improved website offers physicians easy access to the AMA’s wealth of resources, tools and guidance for enhancing the operation of a medical practice.
About 7,000 monthly visitors access the Practice Management Center website for valuable resources designed to help physicians more efficiently and effectively manage their practices said AMA President Peter Carmel, M.D.
The AMA’s Practice Management Center was created in 2006 and has developed an extensive online library of solutions to help physicians streamline administrative and business issues so they can devote more time to caring for patients.
The website’s three new sections feature popular topics in practice operations, claims revenue cycle management and health insurer relations. Easy to find tools and resources can support physicians selecting a practice management system, evaluating new business models, establishing fees, negotiating managed care contracts and navigating health insurer rules and government regulations.
The new Knowledge Center provides access to practice management tips, toolkits, guidance and webinars. It also makes available AMA whitepapers, policy positions, testimony to government bodies and other communications on the topics most significant to physician practices.
Physicians can sign up for the popular Practice Management Alerts or join the AMA’s new online community, the Paperless Practice Group, to connect with peers around the country, share best practices and ask questions about how to automate and streamline the medical practice.
The AMA is committed to designing innovative practice management tools with physicians’ needs in mind. All these and more are available to physicians who visit www.ama-assn.org/go/pmc to explore the new Practice Management Center website. The site is free and available to AMA members and non-members.