نتایج جستجو برای: bethlem myopathy
تعداد نتایج: 12325 فیلتر نتایج به سال:
A novel canine muscular dystrophy in Landseer dogs was observed. We had access to five affected dogs from two litters. The clinical signs started at a few weeks of age, and the severe progressive muscle weakness led to euthanasia between 5 and 15 months of age. The pedigrees of the affected dogs suggested a monogenic autosomal-recessive inheritance of the trait. Linkage and homozygosity mapping...
A pilot clinical trial based on nutritional modulation was designed to assess the efficacy of a one-year low-protein diet in activating autophagy in skeletal muscle of patients affected by COL6/collagen VI-related myopathies. Ullrich congenital muscular dystrophy and Bethlem myopathy are rare inherited muscle disorders caused by mutations of COL6 genes and for which no cure is yet available. St...
OBJECTIVE To determine the contributions of body mass, adiposity, and muscularity to physical function and muscle strength in adult patients with Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). MATERIALS AND METHODS Evaluation involved one UCMD and 7 BM patients. Body composition was determined by body mass index (BMI) and dual-energy-X-ray-absorptiometry (DXA), muscle...
Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic acidosis .The patient is a 8.5 year old boy with normal cognitive function suffering from chronic progressive weakness in lower extremities, ...
The 173rd ENMC/TREAT-NMDworkshop on congenital muscular dystrophy (CMD) outcome measures is the 9th CMD workshop, beginning in 1993 with the establishment of a CMD consortium. The workshop brought together 22 clinicians and experts from five countries to advance the implementation of suitable clinical outcome measures and endpoints specific for the CMDs to advance CMD clinical trial readiness. ...
Ullrich Congenital Muscular Dystrophy (UCMD), Bethlem Myopathy (BM), and Congenital Myosclerosis are diseases caused by mutations in the genes encoding the extracellular matrix protein collagen VI. A dystrophic mouse model, where collagen VI synthesis was prevented by targeted inactivation of the Col6a1 gene, allowed the investigation of pathogenesis, which revealed the existence of a Ca(2+)-me...
Collagen VI (COLVI) is a non-fibrillar collagen expressed in skeletal muscle and most connective tissues. Mutations in COLVI genes cause two major clinical forms, Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). In addition to congenital muscle weakness, patients affected by COLVI myopathies show axial and proximal joint contractures and distal joint hypermobility, which sugge...
Till now, the only comprehensive history of the most famous asylum in the Englishspeaking world has been a rare volume produced by the hospital's one-time chaplain E G O'Donoghue, The story of Bethlehem Hospitalfrom itsfoundation in 1247, which was published in 1914.1 To coincide with the institution's 750th anniversary, Routledge have produced another one-volume history, the product this time ...
a change of site might help to free the hospital of a heavy deficit. More than half its patients were last year treated free of all charge; others paid only relatively small amounts. Nor are the arrangements for the nurses altogether adequate, and where work is so trying and calls for so much skill and patience it is only fair that the staff should be made as comfortable as modern convenience c...
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