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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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How to mend a broken heart: direct reprogramming to cardiomyocytes
The ability to reprogram fibroblasts into cardiomyocytes has many therapeutic implications. Half of the cells in the heart are fibroblasts, so the ability to call upon this reservoir of cells already in the organ to become beating heart cells has tremendous promise for cardiac regeneration. Introducing the defined factors, or factors that mimic their effect, directly into the heart to create new heart muscle would avoid the need to inject stem cells into the heart and all the obstacles that go along with such cell-based therapies. In this study Deepak Srivastava and colleagues endeavoured to reprogram committed fibroblasts to cardiomyocytes and started with a pool of 14 candidate cardiomyocyte-inducing factors.
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Significance of the presence of residual dystrophin and revertant fibres in clinical trials of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is due to the absence of dystrophin, which is in itself linked to abnormalities in the DMD gene. However, traces of residual dystrophin and revertant muscle fibres can be found in more or less large numbers in muscle biopsies of patients. In this paper, a British team has demonstrated that of 63 biopsies from DMD patients, 47% were revertant fibres, 32% showed residual traces of dystrophin, 15% were revertant fibres and showed traces of residual dystrophin and 36% did not contain any dystrophin.
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Beneficial effect of alglucosidase alfa (Myozyme) in late onset Pompe disease
Glycogen storage disease type II or Pompe disease is characterized by muscle weakness, cardiomyopathy and frequent respiratory failure. It is due to the lack of an enzyme, alpha-glucosidase (GAA) or acid maltase, responsible for the degradation of glycogen to glucose in cells. This results in excessive accumulation of glycogen in the lysosomes of cells of different organs. Enzyme replacement therapy is currently the main treatment. In this study, Dutch researchers describe the results of a randomized, placebo-controlled Phase III clinical trial conducted by Genzyme. The trial assessed the efficacy of a recombinant human GAA (alglucosidase alfa or Myozyme) for the treatment of late forms of Pompe disease.
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A retrospective study shows medium-term benefit of mycophenolate mofetil in the treatment of autoimmune myasthenia
Myasthenia gravis is an autoimmune neuromuscular disease due to an acquired immunological abnormality and characterized by fluctuating muscle weakness and great fatigue. Conventional treatment is based on anticholinesterase plus drugs to block, if any, the erratic immune system (corticosteroids, immunosuppressants). Two recent randomized controlled studies have tried unsuccessfully to prove the superiority of mycophenolate mofetil (CellCept®), an immunosuppressant used in preventing organ transplant rejection, over prednisone in the treatment of myasthenia.
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Duchenne muscular dystrophy: beneficial effect of creatine on cell metabolism and muscle strength
Duchenne Muscular Dystrophy (DMD) is caused by mutations in the DMD gene, resulting in the absence of dystrophin. It results in predominantly proximal, progressive muscle weakness and later, cardiomyopathy. Creatine is a naturally occurring amino acid involved in energy metabolism of muscle and muscle contraction. The product is widely used by athletes to increase muscle strength, but its use in neuromuscular diseases is the subject of much discussion and conflicting results. Previous studies have however shown that creatine could have beneficial effects in animal and cellular models of Duchenne muscular dystrophy. In this publication, Indian scientists conducted a randomized placebo-controlled clinical trial in 18 ambulatory boys with DMD, not treated with steroids. They examined the effect of oral creatine supplementation on cell metabolism, muscle strength (measured by manual muscle testing (MMT)) and functional status (measured by the Vignos scale). The 18 patients received creatine monohydrate at a dose of 5 g / day for 8 weeks, while 15 others received a placebo (500 mg vitamin C). The results indicate that the treatment was well tolerated. The ratio of phosphocreatine (PCr) : inorganic phosphate (Pi) (reflecting cellular metabolism) was significantly higher in patients treated with creatine (4.7) compared to the placebo group (3.3).
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