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Abstract Background Familial hypertriglyceridemia (FHTG) is a partially characterized primary dyslipidemia which is frequently confused with other forms hypertriglyceridemia. The aim of this work is to search for specific features that can help physicians recognize this disease. Methods This study included 84 FHTG cases, 728 subjects with common mild-to-moderate hypertriglyceridemia (CHTG) and 609 normotriglyceridemic controls. All subjects underwent genetic, clinical and biochemical assessments. A set of 53 single nucleotide polymorphisms (SNPs) previously associated with triglycerides levels, as well as 37 rare variants within the five main genes associated with hypertriglyceridemia (i.e. LPL, APOC2, APOA5, LMF1 and GPIHBP1) were analyzed. A panel of endocrine regulatory proteins associated with triglycerides homeostasis were compared between the FHTG and CHTG groups. Results Apolipoprotein B, fibroblast growth factor 21(FGF-21), angiopoietin-like proteins 3 (ANGPTL3) and apolipoprotein A-II concentrations, were independent components of a model to detect FHTG compared with CHTG (AUC 0.948, 95%CI 0.901–0.970, 98.5% sensitivity, 92.2% specificity, P

La diabetes mellitus tipo 2 continúa siendo una pandemia sin aparente solución. Estudios realizados en las últimas dos décadas han encontrado una relación importante entre la epigenética y la diabetes mellitus tipo 2, determinando que el ambiente en el que el individuo se desarrolla (incluso en la etapa prenatal) tiene una influencia importante en el futuro desarrollo de diversas patologías. La metilación del ADN, la modificación de histonas y los ARN no codificantes son los principales reguladores de la epigenética. A diferencia del genoma, el epigenoma es potencialmente reversible y se puede corregir por medio de diferentes intervenciones que podrían modificar el curso de esta enfermedad. A pesar de lo anterior, la epigenética presenta importantes limitantes que retrasan su estudio; aunado a los estudios genéticos, la proteómica y la metabolómica, la epigenética es una alternativa más para la identificación de biomarcadores que permitan una predicción para el desarrollo de la diabetes mellitus tipo 2.

Group A Streptococcus (GAS) is a human-adapted pathogen that causes a variety of diseases, including pharyngitis and invasive infections. GAS strains are categorized by variation in the nucleotide sequence of the gene (emm) that encodes the M protein. To identify the emm types of GAS strains causing pharyngitis in Ontario, Canada, we sequenced the hypervariable region of the emm gene in 4,635 pharyngeal GAS isolates collected during 2002–2010. The most prevalent emm types varied little from year to year. In contrast, fine-scale geographic analysis identified inter-site variability in the most common emm types. Additionally, we observed fluctuations in yearly frequency of emm3 strains from pharyngitis patients that coincided with peaks of emm3 invasive infections. We also discovered a striking increase in frequency of emm89 strains among isolates from patients with pharyngitis and invasive disease. These findings about the epidemiology of GAS are potentially useful for vaccine research.

Background: Childhood dyslipidemia is a common condition that can lead to atherosclerotic cardiovascular disease in adulthood. It is usually multifactorial. Screening for cholesterol disorders in children varies based on risk factors, with some guidelines recommending cascade screening for children with a clear family history of familial hypercholesterolemia, targeted screening for those with specific risk factors, and universal screening. Point-of-care testing (POCT) cholesterol tests offer potential advantages, including ease of use, portability, increased patient access, low cost, fewer medical or laboratory visits, and instant results. This study aimed to evaluate the effect of POCT cholesterol screening on the diagnosis of hypercholesterolemia in children in a family practice setting. Methods: We used a POCT cholesterol analyzer to perform two different (universal and targeted) screening approaches for dyslipidemia in children. We used the NCEP guidelines for the classification of the results. Results: We screened 183 children, 105 in the universal screening group and 78 in the targeted screening group. Eight patients in the targeted screening group had elevated cholesterol levels (p = 0.02). Conclusions: All participants received instant feedback and recommendations. Using a targeted screening approach, POCT could be a practical and effective tool for identifying at-risk children with hypercholesterolemia.

Abstract Background Postprandial lipemia is an important cardiovascular risk factor. The assessment of postprandial lipid metabolism is a newly trend that several consortiums and countries have adopted. The aim of the study is to determine a postprandial triglyceride concentration cut-off point that accurately discriminate individuals with fasting normal triglyceride concentrations from those with fasting hypertriglyceridemia. Methods Cross sectional population-based study. A total of 212 subjects underwent an eight hours’ oral fat tolerance test. Samples were taken fasting, three, four, five, six and eight hours after the meal. The area under the receiver operating characteristic curve (c-statistic) was computed using postprandial triglycerides concentrations as independent predictor, and fasting hypertriglyceridemia as dependent variable. Results The best threshold of postprandial lipemia to discriminate fasting hypertriglyceridemia was 280 mg/dL at any hour area under the curve 0.816 (95% confidence interval 0.753–0.866), bootstrap-corrected c-statistic = 0.733 (95% confidence interval 0.68–0.86). The same value was compared with apolipoprotein B concentrations (>90th percentile) having a good performance: area under the curve 0.687 95% confidence interval 0.624–0.751). Likewise, subjects with high postprandial lipemia have higher Globo risk scores. Conclusion The 280 mg/dL cut-off point value of postprandial triglycerides concentration any time after a test meal discriminate subjects with fasting hypertriglyceridemia. This threshold has a good performance in a heterogeneous population and has a good concordance with cardiovascular risk surrogates.

BackgroundLifestyle is the focus of type 2 diabetes (T2D) prevention strategies. Prevention strategies using mobile health (mHealth)–based therapy have shown positive results for T2D prevention in high-income settings, but little is known about their effectiveness in low- and middle-income populations where the burden of T2D is substantial. “Vida Sana” is a web platform designed to record lifestyle habits and medication use within a lifestyle change program. ObjectiveWe sought to identify the barriers, feasibility, usability, and effectiveness of Vida Sana to record lifestyle habits in subjects at risk of developing T2D in a middle-income setting. MethodsThis was a 3-month prospective interventional study in Mexican individuals. A total of 77 subjects at risk of T2D (with prediabetes and BMI between 24 and 40 kg/m2) were selected. Feasibility was assessed by study retention. Usability was evaluated with the System Usability Scale (SUS). Effectiveness measures included changes in weight, body composition, BMI, glycated hemoglobin A1c (HbA1c), and fasting blood glucose from baseline to 3 months. Linear regression models were used to account for covariates. ResultsThe feasibility of Vida Sana was 42%, with 33 subjects using the platform, and the usability was 48.7 (SD 14.24). Reported barriers to platform usage were; difficulty in accessing the platform from difficulty of use (12 subjects, 36%), lack of time to record their habits (11 subjects, 34%), lack of interest to record their habits (6 subjects, 18%), and lack of resources (4 subjects, 11%). The platform was effective for lowering glucose in fasting (–3.1 mg/dL vs –0.11 [SD 8.08] mg/dL; P=.038) and at 2 hours (–16.9 mg/dL vs 2.5 [SD 26.1] mg/dL; P=.045), body fat percentage (–1.3 [–2.2 to –0.7] vs –1.02 [–1.9 to –0.3]; P=.02), and waist circumference (–3.2 [SD 5.1] cm vs –1.7 [SD 5.0] cm; P=.02) independent of their age, sex, treatment, and education level. ConclusionsThe use of the web platform was effective for improving glycemic and anthropometric parameters in a population at risk of developing diabetes. Improving accessibility and ease of navigation could improve the acceptance of digital health solutions in a middle-income population.