Neurology India
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Comparative Study Clinical Trial
Clinical implications of alignment of upper and lower cervical spine.
The alignment of upper and lower cervical spine is presumed to be closely interrelated and the knowledge of this is mandatory when performing occipito-cervical and upper cervical fusions. The aim of this study was to establish standard values for upper and lower cervical spine alignment in the Indian population. ⋯ Relationship between alignment of the upper and the lower cervical spine should be taken into consideration when performing cervical fusion.
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In view of the prevailing controversy about the role of Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in stroke and paucity of studies from India, this study has been undertaken to evaluate MTHFR C677T gene polymorphism in consecutive ischemic stroke patients and correlate these with folic acid, homocysteine (Hcy) and conventional risk factors. ⋯ MTHFR gene polymorphism was found in one-third of patients with ischemic stroke and was insignificantly associated with higher frequency of elevated Hcy.
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Comparative Study
Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder involving degeneration of anterior horn cells of spinal cord resulting in progressive muscle weakness and atrophy. ⋯ With the advent of molecular biology techniques, SMN gene deletion studies have become the first line of investigation for confirmation of a clinical diagnosis of SMA. The findings of homozygous deletions of exons 7 and/or 8 of SMN1 gene confirms the diagnosis of SMA, even in patients with atypical clinical features. Deletions of NAIP gene were mainly seen in severely affected patients, hence is useful for predicting the prognosis.