Background: Methylenetetrahydrofolate reductase (MTHFR) is an enzyme important in folate metabolism. Genetic polymorphisms of MTHFR have potential clinical implications, particularly in treating mental disorders, where a biologically active form of metafolin is FDA approved in the treatment of major depressive disorder and schizophrenia. Therefore, residents in a variety of specialties must understand the link between genetic polymorphisms of MTHFR and clinical disorders.
Objective: To identify current gaps in residency curricula with regards to the MTHFR gene.
Methods: Using a snowball sampling method, a national online survey was sent to residency program directors in family medicine, internal medicine, and psychiatry to be forwarded to their corresponding residents. Data was collected between April 5, 2019, and May 14, 2019. Statistical tests included a Pearson chi-square test. Qualitative content analysis for open item responses was conducted in which recurring keywords and phrases were summarized. The primary outcome of interest was a dichotomous question: Does your curriculum teach about MTHFR?
Results: The results showed that many of residency programs surveyed do not include MTHFR in their courses (family medicine 153/166, 92%; internal medicine 135/151, 89%; psychiatry 70/90, 78%) and a majority of residents are unaware of the clinical associations of MTHFR genetic polymorphisms with cardiovascular diseases and psychiatric disorders.
Conclusions: While many residents were aware of the MTHFR gene, knowledge about the gene was minimal and many curricula do not include MTHFR as part of their program. Therefore, we recommend residency training programs assess their level of training on MTHFR and its genetic polymorphisms.
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http://dx.doi.org/10.1007/s40670-020-00997-y | DOI Listing |
Science
January 2025
Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Studying the functional consequences of structural variants (SVs) in mammalian genomes is challenging because (i) SVs arise much less commonly than single-nucleotide variants or small indels and (ii) methods to generate, map, and characterize SVs in model systems are underdeveloped. To address these challenges, we developed Genome-Shuffle-seq, a method that enables the multiplex generation and mapping of thousands of SVs (deletions, inversions, translocations, and extrachromosomal circles) throughout mammalian genomes. We also demonstrate the co-capture of SV identity with single-cell transcriptomes, facilitating the measurement of SV impact on gene expression.
View Article and Find Full Text PDFPLoS One
January 2025
The Sainsbury Laboratory-TSL, University of East Anglia, Norwich, United Kingdom.
Soybean [Glycine max (L.) Merrill] is one of the most widely grown legumes in the world, with Brazil being its largest producer and exporter. Breeding programs in Brazil have resulted from multiple cycles of selection and recombination starting from a small number of USA cultivar ancestors in the 1950s and 1960s years.
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November 2024
Department of Dermatology, Daping Hospital, Army Medical University, No. 10, Changjiang Branch Road, Yuzhong District, Chongqing 400042, China.
Psoriasis affects a significant proportion of the worldwide population and causes an extremely heavy psychological and physical burden. The existing therapeutic schemes have many deficiencies such as limited efficacies and various side effects. Therefore, novel ways of treating psoriasis are urgently needed.
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January 2025
Departamento de Ciências Exatas, Universidade Estadual Paulista (UNESP), Faculdade de Ciências Agrárias e Veterinárias, Jaboticabal, Brazil.
Natural and artificial selection in domesticated animals can cause specific changes in genomic regions known as selection signatures. Our study used the integrated haplotype score (iHS) and Tajima's D tests within non-overlapping windows of 100 kb to identify selection signatures, in addition to genetic diversity and linkage disequilibrium estimates in 9498 sheep from breeds in Ireland (Belclare, Charollais, Suffolk, Texel, and Vendeen). The mean observed and expected heterozygosity for all the sheep breeds were 0.
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