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Direct oral anticoagulants compared to vitamin K antagonist for the management of left ventricular thrombus
ConclusionsOur data suggest that DOACs are likely to be at least as effective and safe as VKA for stroke prevention in patients with LV thrombus and, despite their lack of a licence for this indication, are therefore likely to represent a reasonable and more convenient option for this setting. The optimal timing and type of anticoagulation for LV thrombus, as well as the role of screening for high ‐risk patients, should be tested in prospective, randomized trials.
Source: ESC Heart Failure - June 24, 2020 Category: Cardiology Authors: Hansa Iqbal, Sam Straw, Thomas P. Craven, Katherine Stirling, Stephen B. Wheatcroft, Klaus K. Witte Tags: Original Research Article 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

Editorial: Telomeres and Epigenetics in Endocrinology
This study was hypothesis-driven; the genetic variants were selected for being previously and substantially genotyped. The big sample size and the rich panel of other biomarkers allowed the authors to conduct much more detailed analyses on this topic. The third article by Provenzi et al. proposed their perspectives on the role of telomeres in premature birth and discussed the potential implications for early adversity and care in the neonatal intensive care unit (Pavanello et al.). Indeed, the speculation of telomeres in aging begins in the premature aging syndrome. It is thus interesting to examine if telomeres also play...
Source: Frontiers in Endocrinology - April 23, 2019 Category: Endocrinology Source Type: research