Read about a series of articles collected each week from different information sources. This information is classified according to theme and is automatically archived. Particular attention is given to scientific and medical publications. Each is presented in the form of an educational synthesis, summarising the main points of the article and its author’s conclusions. All the information of a medical and scientific nature presented on our site has been selected, compiled and validated by a team of specialist editors

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03/08/2008  | ALS stem cell breakthrough Scientists at Harvard University and Columbia University have converted skin cells from an 82-year-old woman with amyotrophic lateral sclerosis (ALS) into stem cells that formed motor neurons with the same genetic make up as the patient. The breakthrough opens the possibility of modeling a patient's specific disease outside of the patient, to improve investigation and drug screening, and perhaps even to develop new neurons to replace the damaged ones in the patient. ALS, also known as Lou Gehrig's disease, is a progressive degenerative disease that attacks the motor neurons in the spinal cord, leading to paralysis of limbs and respiration. >To know more

03/08/2008  | Promising study results for LGMD2D gene therapy trial Experiments conducted in mice suggest gene therapy for type 2D Limb Girdle Muscular Dystrophy (LGMD2D) has the potential for safety and efficacy in humans with this serious muscle disease. The research team coordinated Dr. Jerry Mendell transferred human genes for the alpha-sarcoglycan protein, which is deficient in the muscles of people with LGMD2D, into mice lacking this muscle protein. In contrast to a previous study that suggested overproduction of alpha-sarcoglycan could have toxic effects in muscle tissue, this new study found intramuscular injections of the alpha-sarcoglycan gene to be safe and effective in the mice. >To know more

03/08/2008  | Breakthrough study holds hope for advanced muscular dystrophy Dr. Giulio Cossu from the Milan University and colleagues have developed a new cellular treatment that provides hope for people suffering from advanced forms of muscular dystrophy. Sclerosis and reduced microvessel density characterize advanced stages of muscular dystrophy and hamper cell or gene delivery, precluding treatment of most individuals with Duchenne muscular dystrophy. In this study, modified tendon fibroblasts expressing an angiogenic factor and a metalloproteinase have been successfully tested in aged dystrophic mice, allowing to restore a vascular network and reduce collagen deposition. >To know more

10/07/2008  | Gene therapy as a potential treatment approach for LGMD Type 2D Limb-girdle muscular dystrophy (LGMD) type 2D is characterized by skeletal muscle weakness and results from mutations occurring in the alpha-sarcoglycan gene. Localized in the sarcolemma, the sarcoglycans (alpha, beta, gamma, delta) are a subcomplex of the dystrophin-associated proteins (DAP). Alpha-sarcoglycan (alpha-SG) deficiency is the most common form of sarcoglycan-LGMD and no therapeutic treatments are currently available. The alpha-SG mouse model provides an opportunity to test translational treatment approaches. >To know more

10/07/2008  | Risk factors identified for sudden death in myotonic dystrophy type 1 The largest multicenter study, led by Dr. William J. Groh at the Indiana University School of Medicine, has identified risk factors that can lead to sudden death for adult patients with myotonic dystrophy type 1, the most common form of muscular dystrophies seen in adults. Over 10 years, neurologists and cardiologists assessed 406 adult patients, from 23 neuromuscular disease clinics in the United States, with genetically confirmed myotonic dystrophy type 1 using clinical history, genetic assessment and electrocardiograms (ECG) to determine the risk factors that cause arrhythmias and sudden cardiac death. >To know more

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