نتایج جستجو برای: duchenne muscular dystrophy
تعداد نتایج: 53024 فیلتر نتایج به سال:
The muscular dystrophies comprise a heterogeneous group of genetic disorders that produce progressive skeletal muscle weakness and wasting. There has been rapid growth and change in our understanding of these disorders in recent years, and advances in basic science are being translated into increasing numbers of clinical trials. This review will discuss therapeutic developments in 3 of the most...
BACKGROUND AND OBJECTIVES Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. CASE RE...
Roughly 3 million years ago, an inactivating deletion occurred in CMAH, the human gene encoding CMP-Neu5Ac (cytidine-5'-monophospho-N-acetylneuraminic acid) hydroxylase (Chou HH, Takematsu H, Diaz S, Iber J, Nickerson E, Wright KL, Muchmore EA, Nelson DL, Warren ST, Varki A. 1998. A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence. Proc Natl Acad Sci USA. 95:...
It has been established that the levels of certain enzymes are elevated in the serum of patients suffering from muscular dystrophy. Previous studies (Pearson, 1957; Dreyfus, Schapira, and Demos, 1958; Thompson and Vignos, 1959; Schapira, Dreyfus, Schapira, and Demos, 1960; Thomson, Leyburn, and Walton, 1960; Pearson, Chowdhury, Fowler, Jones, and Griffith, 1961) have indicated that a number of ...
OBJECTIVE To determine upper limb function and associated factors in adults with Duchenne muscular dystrophy. DESIGN Cross-sectional study. SUBJECTS A sample of 70 men with Duchenne muscular dystrophy (age range 20-43 years). METHODS General motor function and, in particular, upper limb distal motor function, were assessed with the Motor Function Measure. Muscle strength and range of moti...
The study concerns 77 adults with muscular dystrophy (mean age 49 years) in two counties in Sweden. The purpose was to investigate activities of daily living, quality of life and the relationship between these. Data collection was performed with "the Activity of Daily Living Staircase", "the Self-report Activity of Daily Living" and the Quality of Life Profile. The results indicated that over h...
In 1971 a patient with suxamethonium-induced cardiac arrest in an unsuspected case of pseudohypertrophic muscular dystrophy was described (Genever, 1971). Suxamethonium has been implicated in several cases of muscular rigidity, hyperkalaemia and cardiac arrest and in malignant hyperpyrexia, and there is evidence that these reactions occur often when there are pre-existing muscular disorders inc...
Several forms of inherited muscular dystrophy are associated with brain abnormalities and cognitive impairment. One of the most common and severe of these diseases is Duchenne muscular dystrophy (DMD). Dystrophin, the product of the DMD gene, is found in neurones, where it is associated with the postsynaptic membrane. Cognitive impairment in individuals with DMD is thought to be due to an abnor...
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