7 research outputs found

    Genetics education in primary care residency training: satisfaction and current barriers

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    Background Genetics education can be integrated into general care medicine through primary care residency programs. A study of primary care residents was done to evaluate quality, satisfaction, and barriers in genetics education in residency training programs. Thus, providing more evidence for the necessity for its development and progress. Methods A cross-sectional descriptive self-administered questionnaire survey was delivered to four primary care West Virginia University (WVU) residency training programs in 2020–2021. The anonymous 14-item survey included the following questionnaire domains: general data, genetics training satisfaction, and genetics education barriers. Results The survey response rate was 52% (70/123) and 59 participants completed the survey. Overall, respondents viewed genetic education as critical to their chosen specialty (90%). Trainees at all educational levels obtained their education mostly from class based educational curricula (77% from lectures, 65% from didactic and 49% from grand rounds). The majority of survey respondents indicated insufficient experience with genetic patient care (34% ward genetic consultation, 5% clinic experience, 0% genetic department rotation). The percentage of residents who were satisfied with genetic topics were as follows: basic genetics (57%), capturing family history (82%), initiating basic genetic workup (15%), a basic understanding of the genetic report (23%), basic management surveillance in the genetic patient (18%), understanding the genetic referral and explaining it to a patient (47%). Residents reported barriers to genetic interest included complexity of the field (87%), followed by limited utility of genetics testing (41%). The most common suggestions for improving the genetic education component were to provide more lectures (61%), followed by enhanced advertisement of genetic education resources specifically rotations in the genetics department (22%). Other suggestions include the integration of genetic education in inpatient learning (20%) and providing research experience (7%). Conclusion Primary care residents were satisfied with their genetic knowledge in the classroom and stated a clear need for enhanced hands-on clinical skills and research experience in their current residency training. The survey suggestions for improvement can enhance primary care residents’ genetic training that can lead to advances in rare disease recognition, precision medicine, and improve access to genetics testing

    Hanseniaspora opuntiae, Saccharomyces cerevisiae, Lactobacillus fermentum, and Acetobacter pasteurianus predominate during well-performed Malaysian cocoa bean box fermentations, underlining the importance of these microbial species for a successful cocoa bean fermentation process

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    Two spontaneous Malaysian cocoa bean box fermentations (one farm, two plantation plots) were investigated. Physical parameters, microbial community dynamics, yeast and bacterial species diversity [mainly lactic acid bacteria (LAB) and acetic acid bacteria (AAB)], and metabolite kinetics were monitored, and chocolates were produced from the respective fermented dry cocoa beans. Similar microbial growth and metabolite profiles were obtained for the two fermentations. Low concentrations of citric acid were found in the fresh pulp, revealing low acidity of the raw material. The main end-products of the catabolism of the pulp substrates glucose, fructose, and citric acid by yeasts, LAB, and AAB were ethanol, lactic acid, acetic acid, and/or mannitol. Hanseniaspora opuntiae, Lactobacillus fermentum, and Acetobacter pasteurianus were the prevalent species of the two fermentations. Saccharomyces cerevisiae, Lactobacillus plantarum, Lactobacillus pentosus, and Acetobacter ghanensis were also found during the mid-phase of the fermentation processes. Leuconostoc pseudomesenteroides and Acetobacter senegalensis were among the prevailing species during the initial phase of the fermentations. Tatumella saanichensis and Enterobacter sp. were present in the beginning of the fermentations and they could be responsible for the degradation of citric acid and/or the production of gluconic acid and lactic acid, respectively. The presence of facultative heterofermentative LAB during the fermentations caused a high production of lactic acid. Finally, as these fermentations were carried out with high-quality raw material and were characterised by a restricted microbial species diversity, resulting in successfully fermented dry cocoa beans and good chocolates produced thereof, it is likely that the prevailing species H.opuntiae, S. cerevisiae, Lb. fermentum, and A.pasteurianus were responsible for it

    Interesting Starter Culture Strains for Controlled Cocoa Bean Fermentation Revealed by Simulated Cocoa Pulp Fermentations of Cocoa-Specific Lactic Acid Bacteria ▿

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    Among various lactic acid bacterial strains tested, cocoa-specific strains of Lactobacillus fermentum were best adapted to the cocoa pulp ecosystem. They fermented glucose to lactic acid and acetic acid, reduced fructose to mannitol, and converted citric acid into lactic acid and 2,3-butanediol

    Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man.

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    Item does not contain fulltextGenome-wide association studies have identified GALNT2 as a candidate gene in lipid metabolism, but it is not known how the encoded enzyme ppGalNAc-T2, which contributes to the initiation of mucin-type O-linked glycosylation, mediates this effect. In two probands with elevated plasma high-density lipoprotein cholesterol and reduced triglycerides, we identified a mutation in GALNT2. It is shown that carriers have improved postprandial triglyceride clearance, which is likely attributable to attenuated glycosylation of apolipoprotein (apo) C-III, as observed in their plasma. This protein inhibits lipoprotein lipase (LPL), which hydrolyses plasma triglycerides. We show that an apoC-III-based peptide is a substrate for ppGalNAc-T2 while its glycosylation by the mutant enzyme is impaired. In addition, neuraminidase treatment of apoC-III which removes the sialic acids from its glycan chain decreases its potential to inhibit LPL. Combined, these data suggest that ppGalNAc-T2 can affect lipid metabolism through apoC-III glycosylation, thereby establishing GALNT2 as a lipid-modifying gene
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