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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

Combination of Dexmedetomidine and Ketamine for Magnetic Resonance Imaging Sedation
Conclusions: The efficacy of DEX–KET sedation was comparable to that of midazolam for MRI examination. DEX–KET was related to shorter scan time and lower occurrence of complications compared to midazolam. Introduction Neurocritically ill patients often require brain magnetic resonance imaging (MRI) in addition to conventional neurological evaluations. Brain MRI can reveal structural lesions with a high sensitivity due to its excellent spatial resolution and enhanced soft tissue contrast (1–3). To acquire MRI images, patients' cooperation is imperative. However, keeping patients with ...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

Shengui Sansheng San Ameliorates Cerebral Energy Deficiency via Citrate Cycle After Ischemic Stroke
Conclusion In summary, SSS extraction significantly ameliorates cerebral energy metabolism via boosting citrate cycle, which mainly embodies the enhancements of blood glucose concentration, glucose and lactate transportation and glucose utilization, as well as the regulations of relative enzymes activities in citrate cycle. These ameliorations ultimately resulted in numerous ATP yield after stroke, which improved neurological function and infarcted volume. Collectively, it suggests that SSS extraction has exerted advantageous effect in the treatment of cerebral ischemia. Ethics Statement All animal operations were accor...
Source: Frontiers in Pharmacology - April 22, 2019 Category: Drugs & Pharmacology Source Type: research