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Age-Dependence of Flow Homeostasis in the Left Ventricle
Conclusions: In average, blood spends 1 to 3 beats inside the LV with very low shear stress rates. The apical region is the most prone to blood stasis, particularly in mid-aged adults. The washout of blood in the normal LV is age-dependent due to physiological changes in the degree of apical penetration of the filling waves. Introduction Cardioembolic stroke is a major source of mortality and disability worldwide and blood stasis one of its major determinants (Adams et al., 1986). Left ventricular (LV) function has evolved to maximize mechanical efficiency and ensure organ perfusion at a low cost of energy and fill...
Source: Frontiers in Physiology - April 25, 2019 Category: Physiology 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

New Biomarkers for Atherothrombosis in Antiphospholipid Syndrome: Genomics and Epigenetics Approaches
Conclusions In recent years, there have been many advances in the understanding of the molecular basis for vascular involvement in APS, but many areas need to be further investigated, in particular the association between altered genetic/epigenetic profiles, autoantibodies and clinical manifestations, and the effectiveness of new therapeutic strategies. It would be interesting to apply next generation sequencing technologies like RNA-Seq along with GWAS to screen both, the gene profile and the whole transcriptome of large cohorts of primary APS patients, in order to reveal the mutations/polymorphisms, post-transcriptiona...
Source: Frontiers in Immunology - April 15, 2019 Category: Allergy & Immunology Source Type: research