New techniques to detect chromosomal abnormalities can offer a higher degree of accuracy. Chromosomal abnormalities are a well-known cause of multiple congenital anomalies, and conventional methods of culture analysis have proven unsuccessful in 10% to 40% of cases. Comparative genomic hybridization (CGH) and fluorescent in situ hybridization (FISH) techniques were tested and found successful by analyzing tissue from children who had multiple congenital anomalies.

The May issue of the journal Pediatric and Developmental Pathology reports results from this study , which examined the feasibility of CGH and FISH in retrospective genetic analysis to detect chromosomal abnormalities.

CGH is a new molecular technique that allows the entire genome to be analyzed in frozen or paraffin-embedded tissue. It is based on DNA rather than metaphase cultures like traditional methods of analysis. The FISH technique can be used to confirm the CGH findings or detect abnormalities that CGH could not. FISH analysis is specifically directed at certain chromosomal regions.

This study used DNA from the postmortem tissue of 92 patients, most of whom had multiple congenital anomalies. Four normal patients were included as controls. In many of the cases, the karotype was already known, and the testing confirmed the success of the CGH technique. In 40 patients, the karotype was unknown but identified by CGH in 90% of the cases. Among these, one additional chromosomal aberration, that of Turner syndrome, was identified.

CGH offered an interpretable result in 93% of the cases tested. The authors concluded that “these techniques are valuable additional tools in the postmortem analysis of fetuses and infants with (multiple) congenital anomalies and can be considered as an expansion of the diagnostic armamentarium of the pathologist.”

For the full text of the article, “The Use of Comparative Genomic Hybridization and Fluorescent In Situ Hybridization in Postmortem Pathology Investigation of Congenital Malformations ,” Volume 13, Issue 2, 2010, visit this link.

About Pediatric and Developmental Pathology

Pediatric and Developmental Pathology is the premier journal dealing with the pathology of disease from conception through adolescence. It covers the spectrum of disorders developing in-utero (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. For more information about the journal or society, please visit: pedpath.

Source
Allen Press Publishing Services

Incremental exercise tests show that the peak work rate in patients who suffer from chronic obstructive pulmonary disease (COPD) and who have participated in a pulmonary rehabilitation program increases an average of 18 percent, according to a “State of the Art” article on COPD pulmonary rehabilitation in the first issue for July 2005 of the American Thoracic Society’s peer-reviewed American Journal of Respiratory and Critical Care Medicine.

According to the expert article, the goals of pulmonary rehabilitation programs for COPD patients are to reduce symptoms, improve activity and daily function, and restore the highest level of independent function in patients with respiratory disease.

COPD involves persistent obstruction of the airways caused by severe emphysema and chronic bronchitis. Severe emphysema causes enlargement of the tiny air sacs of the lung (alveoli) and the destruction of their walls. In chronic bronchitis, bronchial glands are enlarged, causing excess secretion of mucus. Frequently, the small airways of the lung become inflamed and blocked. Also, bronchitis victims suffer from a persistent cough that produces sputum. Long-term smoking is the root cause of each of the two illnesses involved. In 2002, 11.2 million U.S. adults were estimated to have COPD.

One of the benefits of pulmonary rehabilitation is improved function capacity, as measured by the 6-minute walk test. Patients who underwent rehabilitation, including exercise training, improved their results by a distance of 54 meters (about 48.6 yards).

Also, the authors point out that improved health-related quality of life is also observed even in the absence of clinically significant improvements in exercise capacity.

Although exercise reconditioning is the key to a successful rehabilitation program, exercise training programs need to be adapted to the individual limitations of the COPD patient, taking into consideration cardiovascular, pulmonary, and skeletal muscle limitations.

They note that exercises should be performed 3 to 5 days per week at an intensity above 40 to 85 percent of the oxygen uptake reserve (the difference between resting and peak oxygen intake) for more than 20 minutes per session.

American Thoracic Society Journal news tips for July 2005 (first issue)

Cathy Carlomagno
ccarlomagnothoracic
212-315-6442
American Thoracic Society

thoracic

For the complete text of these articles, please see the American Thoracic Society Online Web Site at atsjournals. For either contact information or to request a complimentary journalist subscription to ATS journals online, or if you would like to add your name to the Society’s twice monthly journal news e-mail list, contact Cathy Carlomago at 212-315-6442, or by e-mail at ccarlomagnothoracic

This study describes the relationship between manual wheelchair skill and social participation in persons with spinal cord injury (SCI) one year after injury.

Eighty-one persons with SCI in the Netherlands performed a wheelchair- skills test.

Social participation was moderately related to the number of wheelchair tasks that a person could perform and to the amount of time and physical strain required to perform these tasks, with the strongest association for performance time.

Investigators conclude that wheelchair-skills training must be a top rehabilitation goal and that maintenance of those skills following discharge from rehabilitation should be encouraged.

About the Journal

JRRD has been a leading research journal in the field of rehabilitation medicine and technology for over 40 years. JRRD, a peer-reviewed, scientifically indexed journal, publishes original research papers, review articles, as well as clinical and technical commentary from U.S. and international researchers on all rehabilitation research disciplines. JRRD’s mission is to responsibly evaluate and disseminate scientific research findings impacting the rehabilitative healthcare community. For more information about JRRD, visit vard .

The current issue of the Journal of Rehabilitation Research and Development (JRRD) is dedicated to spinal cord injury and wheelchair technology. Full-text articles are available, free, online at vard.

Judith LaVoie
judithvard
410-962-1800 x 229
VA Research Communications Service
vard

This study describes the rehabilitation length and functional outcome in the Netherlands for patients with spinal cord injury (SCI).

Data from 157 patients from eight rehabilitation centers were analyzed. Level and completeness of injury, bed rest because of pressure sores, and length of stay were predictors of function. Length of stay in the Netherlands is very long, compared with length of stay in the U.S., but the outcomes are not necessarily better.

Functional outcome appears slightly better in persons with complete tetraplegia, but not in persons with complete paraplegia. Investigators argue that international studies are necessary to reveal strengths and weaknesses of SCI rehabilitation systems in different countries.

About the Journal

JRRD has been a leading research journal in the field of rehabilitation medicine and technology for over 40 years. JRRD, a peer-reviewed, scientifically indexed journal, publishes original research papers, review articles, as well as clinical and technical commentary from U.S. and international researchers on all rehabilitation research disciplines. JRRD’s mission is to responsibly evaluate and disseminate scientific research findings impacting the rehabilitative healthcare community. For more information about JRRD, visit vard .

The current issue of the Journal of Rehabilitation Research and Development (JRRD) is dedicated to spinal cord injury and wheelchair technology. Full-text articles are available, free, online at vard.

Judith LaVoie
judithvard
410-962-1800 x 229
VA Research Communications Service
vard

This study investigates the performance and user acceptance of a low-impact wheelchair pushrim. A low-impact pushrim is one that absorbs shock as the hand impacts it at the beginning of the push, important as this has been associated with the development of repetitive stress injuries among wheelchair users.

Seventeen volunteers propelled their wheelchairs using the Variable Compliance Handrim Prototype set to each of three shock-absorption levels through a maneuverability test course and on various treadmill grades.

Investigators found an optimal level of shock absorption where user acceptance was high and impact was reduced.

The results of this study have shown that low-impact wheelchair propulsion is both achievable and acceptable to users.

About the Journal

JRRD has been a leading research journal in the field of rehabilitation medicine and technology for over 40 years. JRRD, a peer-reviewed, scientifically indexed journal, publishes original research papers, review articles, as well as clinical and technical commentary from U.S. and international researchers on all rehabilitation research disciplines. JRRD’s mission is to responsibly evaluate and disseminate scientific research findings impacting the rehabilitative healthcare community. For more information about JRRD, visit vard .

The current issue of the Journal of Rehabilitation Research and Development (JRRD) is dedicated to spinal cord injury and wheelchair technology. Full-text articles are available, free, online at vard.

Judith LaVoie
judithvard
410-962-1800 x 229
VA Research Communications Service
vard

This study examines whether the prevalence of shoulder pain in adult wheelchair users who began using their wheelchairs during childhood is similar to those who began using their wheelchairs as adults.

Investigators compared reports of shoulder and overall pain and physical activity levels in 31 childhood-onset and 22 adult-onset wheelchairs users.

Shoulder pain was greater in adult-onset wheelchair users than compared with child-onset wheelchair users even though lifestyles were similar.

Investigators suggest that a possible reason may be that the immature skeleton may respond to the repetitive forces of wheeling better than those who began using a wheelchair after their skeletal structure was developed.

About the Journal

JRRD has been a leading research journal in the field of rehabilitation medicine and technology for over 40 years. JRRD, a peer-reviewed, scientifically indexed journal, publishes original research papers, review articles, as well as clinical and technical commentary from U.S. and international researchers on all rehabilitation research disciplines. JRRD’s mission is to responsibly evaluate and disseminate scientific research findings impacting the rehabilitative healthcare community. For more information about JRRD, visit vard .

The current issue of the Journal of Rehabilitation Research and Development (JRRD) is dedicated to spinal cord injury and wheelchair technology. Full-text articles are available, free, online at vard.

Judith LaVoie
judithvard
410-962-1800 x 229
VA Research Communications Service
vard

Body weight-supported treadmill training isn’t more effective than conventional mobility rehabilitation for restoring movement to those with partial spinal cord injury, according to a new study. But an unexpectedly high number of patients achieved functional walking speeds regardless of treatment type. The study is published in the February 28, 2006, issue of Neurology, the scientific journal of the American Academy of Neurology (AAN).

The multicenter trial analyzed 117 individuals who had a partial spinal cord injury within the previous eight weeks. Through random selection, 58 patients received body weight-supported treadmill training, and 59 patients received conventional overground mobility therapy. Based on level of impairment, they were also categorized into three groups, B (more impaired), C, or D (less impaired). All patients received an equal amount of therapy for 12 weeks. The difference in therapy strategies is the conventional group didn’t use a treadmill or body-weight support.

“We initially expected that body weight-supported treadmill training would be more effective to regain walking ability than the conventional overground mobility therapy, particularly in groups B and C,” said study author Bruce H. Dobkin, MD, of Reed Neurologic Research Center at the University of California, Los Angeles and also a fellow of the AAN. “But what we found was no significant difference in strategies among individuals in groups C and D, who achieved walking abilities beyond expectations.”

The vast majority of individuals in group C became able to walk independently by six months following their injury, regardless of the therapy strategy (24 out of 26 treated with weight-supported treadmill therapy and 24 out of 26 treated with conventional overground mobility therapy). There was no statistical difference between therapy strategies in walking speed achieved at six months follow-up for those in groups C and D who were able to walk. Their average speed was 1.1 meters per second.

Entering the trial earlier (less than four weeks after the injury) was associated with faster walking speeds and longer walking distances at the six-month follow-up.

“Although these results give an unexpected answer to the initial question, the study is important and ultimately successful, because it reaffirms the importance of controlled experiments, highlights major gaps in current knowledge, and will help guide the design, implementation, and assessment of new treatment methods in spinal cord injury,” said Jonathan R. Wolpaw, MD, a member of the AAN who wrote an editorial in the same issue of Neurology.

Given that both therapy methods produced similar outcomes, clinicians and patients could base their use of each strategy on personal preferences, skill, availability of equipment, and costs, said Dobkin.

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The study received funding support by grants from the National Institutes of Health and from the Foundation for Spinal Cord Research in Quebec.

Contact: Robin Stinnett
rstinnettaan
American Academy of Neurology

NEW YORK CITY, NEW YORK — In a forthcoming article in Alcoholism Treatment Quarterly, scientists from NDRI explore the role of social supports, spirituality, religiousness, life meaning, and 12-step participation in the process of recovery from addiction. While the path to recovery is challenging, the study reveals markedly improved life satisfaction as recovery progresses as well as a decrease in stress, a critical finding since stress is a key predictor of relapse to drug use.

Supported by the National Institute on Drug Abuse (Grant R01 DA014409) and the Peter McManus Charitable Trust, the authors, scientists from the National Development and Research Institutes, Inc. (NDRI) in New York City and Chestnut Health System in Bloomington, Illinois, conducted one of the few comprehensive scientific studies of the recovery process. Over 300 recovering persons recruited for the study in New York City, many of whom were inner-city ethnic minority members formerly addicted to crack cocaine, heroin, and who had used other multiple substances more than twenty years, were interviewed in depth about their addiction recovery experiences.

Dr. Alexandre Laudet, Ph.D is director of the Center for the Study of Addictions and Recovery, principal investigator and the lead author of the study. She has been focusing on the long-term recovery process in her ongoing research. “I was especially pleased that we were able to explore the role of spirituality as a buffer against the pressures and stresses of drug use and attempts to recover,” said Dr. Laudet. “We were successful in demonstrating scientifically the way in which quality of life and recovery from addictions is enhanced by social supports, spirituality, religiousness, and participation with 12-step fellowship programs such as Narcotics Anonymous. Our work should give hope to everyone struggling with addiction and to their families, and guide clinicians toward developing individualized programs to maximize the chances of recovery.”

Co-author William White adds, “There are religious, secular and spiritual pathways to long-term addiction recovery. Charting the commonalities and distinguishing features of these pathways is enriching our ability to help individuals, families and communities.”

“Research on recovery is limited, and this impressive study, using state of the art methodology, a large representative sample, and relevant statistical analyses makes tremendous advances in the field,” noted Dr. Bernard S. Arons, M.D., Executive Director/CEO of NDRI, where the research was conducted.

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The website for the Center for the Study of Addictions and Recovery at NDRI is: ndri/ctrs/cstar.html

Reference: Alexandre B. Laudet, PhD, Keith Morgen, PhD, and William L. White, M.A. “The role of Social Supports, Spirituality, Religiousness, Life Meaning and Affiliation with 12-step Fellowships in Quality of Life Satisfaction among Individuals in Recovery from Alcohol and Drug Use,” IN PRESS: ALCOHOLISM TREATMENT QUARTERLY, 26:12, SPRING 2006

Contact: Betty Wagoner
wagonerndri
National Development & Research Institutes

Each year, nearly 11,000 Americans suffer disabling spinal cord injuries, the majority of whom are young and active adults. According to the National Spinal Cord Injury Statistical Center, these injuries often result in partial or total paralysis and cost patients millions of dollars in rehabilitation therapies and other medical care.

A new $3.7 million grant from the National Institutes of Health awarded to GUMC will help improve outcomes for individuals with these kinds of injuries by creating an interdisciplinary research network in spinal cord injury and rehabilitation throughout the Washington, DC region. Called the National Capital Area Rehabilitation Network (NCARRN), this five-year grant will fund one of only six similar NIH-funded programs in the country and will bring together outstanding programs at area universities and hospitals in both basic science and clinical research to provide improved and more comprehensive care to patients in the District of Columbia.

“By bringing together strong researchers and clinicians experienced in rehabilitation delivery, our work truly represents the paradigm of translational research,” said Barbara Bregman, PhD, PT, principal investigator of the grant and professor of neuroscience at Georgetown University Medical Center. “This comprehensive network will also strengthen Washington’s position as one of the leading areas in the country for spinal cord injury research and care.”

Because NCARRN will have a unique dual focus on research and clinical care, investigators from different disciplines and institutions will work together to understand the neural mechanisms underlying rehabilitation, as well as design and implement applications to maximize recovery and improve quality of life. Other institutions involved in the DC network currently include MedStar Health’s National Rehabilitation Hospital and the Catholic University of America.

The network will be primarily housed at the National Rehabilitation Hospital and Georgetown University Medical Center, which has a strong basic science research program in the neurosciences. The network will also work closely with Georgetown’s Center for Functional and Molecular Imaging, which uses advanced technology to combine brain imaging with behavioral methods to explore the neural mechanisms of thought, feeling, movement and perception.

NCARRN will concentrate on four areas of research:

* rehabilitation robotics, including orthotics and prosthetics;
* imaging technologies (animal and human MRI and fMRI);
* animal models of injury, plasticity and recovery of function (or the process of how the body restores function after injury);
* cellular and molecular approaches of plasticity (the lifelong ability of the brain to reorganize neural pathways based on new experiences.)

The network will also coordinate sabbatical and pilot grant programs for visiting research scholars who are poised to become strong independent investigators in the field. It will sponsor various educational opportunities, including research design and grant writing development program. Bregman, and Joseph M. Hidler, PhD, associate professor at the Catholic University of America, will serve as program directors of NCARRN.

A faculty member at GUMC since 1988, Bregman served as chair of the Department of Neuroscience from 1999-2005. The goal of her research program is to identify the requirements of developing and mature CNS neurons for survival and axonal regeneration after injury and to identify ways to enhance regenerative growth and recovery of function after spinal cord injury at birth or at maturity.

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Other Georgetown investigators for the network grant include: Craig Carignan, ScD; Alan Faden, MD; Edward Healton, MD, MPH; Timea Hodics, MD; Lawrence Kromer, PhD; Italo Mocchetti, PhD; Maximilian Riesnenhuber, PhD; Jean Wrathall, PhD; and Thomas Zeffiro, PhD.

About Georgetown University Medical Center
Georgetown University Medical Center is an internationally recognized academic medical center with a three-part mission of research, teaching and patient care (through our partnership with MedStar Health). Our mission is carried out with a strong emphasis on public service and a dedication to the Catholic, Jesuit principle of cura personalis–or “care of the whole person.” The Medical Center includes the School of Medicine and the School of Nursing and Health Studies, both nationally ranked, and the world renowned Lombardi Comprehensive Cancer Center. For more information, go to gumc.georgetown.edu/.

Contact: Liz McDonald
eem6georgetown.edu
Georgetown University Medical Center

Scientists have uncovered new information about what orchestrates the complex balance between blood stem cells and mature blood cells, a relationship that is often disrupted in leukemia. The results, published in the March issue of Cancer Cell, will lead to a better understanding of the behavior of leukemic cells and may have vital clinical applications for patients recovering from chemotherapy, radiation therapy, or bone marrow transplantation.

Recent studies have implicated reduced levels of a transcription factor called MEF with subtypes of leukemia. Drs. Stephen D. Nimer and Daniel Lacorazza from Memorial Sloan-Kettering Cancer Center and colleagues examined the blood cells of mice that do not express MEF in their bone marrow and found an increased population of hematopoietic (blood-forming) stem cells (HSCs). HSCs are immature cells in the bone marrow that have the capacity to differentiate into all types of mature blood cells. A delicate balance exists between self-renewal and differentiation of HSCs because the body must retain a sufficient population of HSCs while continually producing the multitude of new blood cells that are needed each day.

The researchers demonstrated that MEF regulates a little-understood state of quiescence that enables HSCs to exist in a kind of suspended animation until they are recruited to promote rapid repopulation of depleted blood cells, as would be needed following treatment with chemotherapy or radiation therapy. MEF-deficient mice accumulated quiescent HSCs with the capacity for repopulation and demonstrated enhanced resistance to the effects of chemotherapeutic drugs and radiation, which is also seen in wild-type mice transplanted with MEF-deficient HSCs. “This feature can also be helpful to maintain HSCs in an undifferentiated state during gene therapy protocols,” explains Dr. Lacorazza, now a faculty member at Baylor College of Medicine.

These results suggest that MEF regulates HSCs’ decision to remain quiescent or divide, and the researchers speculate that treatments to diminish MEF may improve recovery from chemotherapy and radiation. However, it is important to point out that while reduced expression of MEF might enhance recovery after myelosuppression, it is possible that certain leukemic stem cells may also be protected from these same treatments. “Myelotoxicity induced by chemotherapy or radiotherapy could be prevented by maintaining stem cells in a quiescent state during their administration to cancer patients. However, another implication of our work is that tumor stem cells are more quiescent than more differentiated tumor cells and could use similar mechanisms to resist the effects of chemotherapy or radiation,” explains Dr. Nimer.

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This press release is from Cancer Cell and is for a study published in the March issue of Cancer Cell.

Contact: Joanne Nicholas
nicholajmskcc
Memorial Sloan-Kettering Cancer Center