Clinical Research

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An international study by researchers at Seattle Children’s Hospital Research Institute, the University of Washington School of Medicine, and Radboud University in Nijmegen, Netherlands has identified a new genetic cause for Joubert syndrome (JS). Joubert syndrome is an inherited condition that affects development of the cerebellum and brainstem, the structures in the brain that coordinate movements and regulate basic functions such as breathing, swallowing, heart rate and consciousness. The study confirms key information about the genetic changes that cause JS and cellular structures…
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Based on clues provided by a study with transgenic mice, a research group at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has developed a strategy that will be tested as the first treatment for people with hereditary inclusion body myopathy (HIBM), a rare, degenerative muscle disease. In an unexpected finding, the research indicates that the approach also might benefit patients with certain kidney disorders. The scientists, led by Marjan Huizing, Ph.D., an associate investigator in NHGRI’s Medical Genetics Branch, report their…
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Rats paralyzed due to loss of blood flow to the spine returned to near normal ambulatory function six weeks after receiving grafts of human spinal stem cells (hSSCs), researchers from the University of California, San Diego (UCSD) School of Medicine report. “We demonstrated that when damage has occurred due to a loss of blood flow to the spine’s neural cells, by grafting human neural stem cells directly into the spinal cord we can achieve a progressive recovery of motor function,” said Martin Marsala, M.D., UC San Diego professor of anesthesiology. “This could some day prove to be an…
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Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease typically characterized by the slow but progressive onset of shortness of breath or cough. Most patients live about five years after diagnosis. According to a new study a subset of patients with a specific genetic profile has a much more rapid progression to complete pulmonary failure and death without a lung transplant. Based on observations in the clinic that some IPF patients display a more rapidly progressing disease course, researchers at the Simmons Center for Interstitial Lung Disease at the University of Pittsburgh School…
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Two new papers demonstrate that adolescent female sheep that become pregnant before they have achieved their full growth may not be able to supply enough nourishment for their fetuses to develop without physical deficits. These studies may also have implications for managing pregnancies of adolescent human females, who, in increasing numbers worldwide, are bearing offspring before they have finished growing. A team of scientists, headed by Dr. Jacqueline Wallace of the Rowett Research Institute in Aberdeen, Scotland, found that limiting the food intake of adolescent ewes during pregnancy…
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New research into urologic conditions – such as erectile dysfunction – indicate that these disorders could be associated with or precursors to more serious conditions, and suggest a need for practitioners to view these diseases in the greater context of total health as opposed to isolated disorders. Here are some new studies showing links between ED and other diseases: ENDOTHELIAL DYSFUNCTION AND OXIDATIVE STRESS ASSOCIATED WITH THE METABOLIC SYNDROME CAN BE REVERSED BY A CHRONIC TREATMENT WITH SILDENAFIL Metabolic syndrome is characterized by a number of conditions, including elevated blood…
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The ability to regenerate nerve cells in the body could reduce the effects of trauma and disease in a dramatic way. In two presentations at the NSTI Nanotech 2007 Conference, researchers describe the use of nanotechnology to enhance the regeneration of nerve cells. In the first method, developed at the University of Miami, researchers show how magnetic nanoparticles (MNPs) may be used to create mechanical tension that stimulates the growth and elongation of axons of the central nervous system neurons. The second method from the University of California, Berkeley uses aligned nanofibers…
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Scientists supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health have created two mouse strains that will permit researchers to trace, in a live animal, the activity of an enzyme believed to play a crucial role both in the normal immune response as well as autoimmunity and B cell tumor development. In this picture of intestinal villi from one of the new mouse strains, plasma cells are tagged with yellow (green-appearing) fluorescent protein. Credit: National Institute of Arthritis and Musculoskeletal and Skin…
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Clinical research conducted in the Department of Communication Disorders at the University of Haifa revealed that some children who are born deaf "recover" from their deafness and do not require surgical intervention. To date, most babies who are born deaf are referred for a cochlear implant. "Many parents will say to me: 'My child hears; if I call him, he responds'. Nobody listens to them because diagnostic medical equipment did not register any hearing. It seems that these parents are smarter than our equipment," said Prof. Joseph Attias, a neurophysiologist and audiologist in the…
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"Hope is being given to patients with malignant and ultimately fatal spinal tumors where hope was never before available," said Dr. Isabelle Germano, Professor of Neurosurgery and Co-Director of The Radiosurgery Program at The Mount Sinai Medical Center. "All it takes is one thirty-minute out-patient treatment of pinpointed radiation and the tumor shrinks along with the pain from the cancer. Now cancer spreading to the spine doesn't mean a lifetime of pain or a wheelchair for a patient anymore." Extremely precise, highly focused radiation is beamed directly into the spinal tumor, while…