Neurology India
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The clinical manifestations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS syndrome) are nonspecific and can easily be misdiagnosed. Magnetic resonance spectroscopy (MRS)-based detection of lactate in the brain has been found to be of diagnostic help in MELAS syndrome, however, the issue of whether MRS features vary by stage remains unresolved. ⋯ However, the clinical phenotypic expression was different in these patients. MRS showed a lactate peak, decreased N-acetylaspartate, choline, and creatine, which became more pronounced with progression of the disease, demonstrating that brain-MRS-based detection of lactate may be a suitable way to monitor the progression and treatment of MELAS.
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Atlanto-axial dislocations (AADs) may be classified into four varieties depending upon the direction and plane of the dislocation i.e. anteroposterior, rotatory, central, and mixed dislocations. However, from the surgical point of view these are divided into two categories i.e. reducible (RAADs) and irreducible (IAADs). Posterior fusion is the treatment of choice for RAAD. ⋯ Transoral odontoidectomy alone is never sufficient in cases of congenital IAAD, adequate generous three-dimensional decompression while protecting the underlying neural structures should be achieved. Chronic post-traumatic IAAD are usually Type II odontoid fractures which get malunited or nonunited with pseudoarthrosis in dislocated position. All these dislocations can be reduced by transoral removal of the offending bone, callous and fibrous tissue.
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Numerous Single-Nucleotide Polymorphisms (SNPs) of the Diacylglycerol Kinase Delta (DGKD) isoform 1 gene have been associated with Parkinson Disease (PD) in the genome-wide association studies of Caucasian population. This association has not been proven in the Han Chinese PD patients. This study included 376 unrelated Han Chinese PD patients from West China and 273 unrelated healthy controls from the same region. ⋯ No significant differences were observed in genotype frequencies and in the Minor Allele Frequency (MAF) in the five SNPs between PD patients and controls, early-onset PD and controls, late-onset PD and controls, and between early-onset and late-onset PD patients. The present study is the first to report on the lack of association of DGKD SNPs with PD in the Han Chinese population. More related studies involving larger numbers of participants are necessary to confirm the present finding.
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To determine the reliability and validity of the National Institute of Health Stroke Scale (NIHSS) with the Hindi and Indian adaptation of items 9 and 10. ⋯ This study shows that a Hindi language version of the NIHSS developed at AIIMS appears reliable and valid when applied to a Hindi-speaking population.