نتایج جستجو برای: mitochondrial myopathies
تعداد نتایج: 134607 فیلتر نتایج به سال:
BACKGROUND The morphopathological picture of a subset of equine myopathies is compatible with a primary mitochondrial disease, but functional confirmation in vivo is still pending. The cationic dye JC-1 exhibits potential-dependent accumulation in mitochondria that is detectable by a fluorescence shift from green to orange. As a consequence, mitochondrial membrane potential can be optically mea...
Despite continuing controversy, it is widely assumed that children with known or suspected myopathies are at increased risk for malignant hyperthermia (MH) (1). Previous reports have suggested a relationship between MH risk and a variety of neuromuscular disorders including Duchenne type muscular dystrophy (DMD), osteogenesis imperfecta, myotonia congenita, the Schwartz-Jampel syndrome, and oth...
The mitochondrial myopathies are a clinically heterogeneous group o f diseases characterized by abnormal mitochondrial proliferation in skeletal muscle and in other affected cells [ 1, 2 ) . Studies of mitochondrial metabolism in vitro in over I00 published cases have identified a number of different functional defects which have mostly involved the oligomeric complexes of the mitochondria1 res...
Myopathies decrease muscle functionality. Mutations in ryanodine receptor 1 (RyR1) are often associated with myopathies with microscopic core-like structures in the muscle fiber. In this study, we identify a mouse RyR1 model in which heterozygous animals display clinical and pathological hallmarks of myopathy with core-like structures. The RyR1 mutation decreases sensitivity to activated calciu...
Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 genes, ranging from the severe Ullrich congenital muscular dystrophy to the milder Bethlem myopathy, which is recapitulated by collagen-VI-null (Col6a1(-/-)) mice. Abnormalities in mitochondria and autophagic pathway have been proposed as pathogenic causes of collagen VI myopathies, but the link between...
in this report we are going to discuss the following subjects: 1. indications of muscle biopsy in which situation it can not be helpful. 2. how to take a muscle biopsy? 3. how a muscle biopsy should be operated? 4. which techniques do we need to read and interpret a muscle biopsy histologically (h & e staining, histochemical study, electron microscopy). 5. muscle disease histopathologic changes...
This course explores the considerations that the anesthesia provider has to be aware of, when caring for a patient with a mitochondrial myopathy. Even though these disorders are rare, these patients may also need surgical care, requiring that the anesthesia provider be informed of the best anesthesia options to consider. A narrative review of documented cases and their outcomes is used to gener...
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