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Neurological Involvement in Primary Systemic Vasculitis
Conclusion Neurological involvement is a common complication of PSV (Table 1), and neurologists play an important role in the identification and diagnosis of PSV patients with otherwise unexplained neurological symptoms as their chief complaint. This article summarizes the neurological manifestations of PSV and hopes to improve neuroscientists' understanding of this broad range of diseases. TABLE 1 Table 1. Common CNS and PNS involvements of primary systemic vasculitis. Author Contributions SZ conceived the article and wrote the manuscript. DY and GT reviewed and edited the manuscript. All authors ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

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

Influence of Sex on Stroke Prognosis: A Demographic, Clinical, and Molecular Analysis
Conclusion Our data suggest that women who suffer from IS present with a poorer functional outcome than men at 3-months, regardless of other preclinical and clinical factors during the acute phase. These relationships seem to be mediated by atrial dysfunction and inflammation. The inflammatory response is slightly higher in women; however, there are no sex differences in their functional behavior. There is a probable relationship between the molecular marker of atrial dysfunction NT-proBNP and worse functional outcome in women, and the connection seems to be more important in cardioembolic stroke patients. In patients wi...
Source: Frontiers in Neurology - April 16, 2019 Category: Neurology Source Type: research