Search

IntroductionThis study addresses the rising cardiovascular disease (CVD) rates in the United Arab Emirates (UAE) by investigating the occurrence and impact of genetic variants in CVD-related genes.MethodsWe collected all genes linked to heritable CVD from public and diagnostic databases and mapped them to their corresponding biological processes and molecular pathways. We then evaluated the types and burden of genetic variants within these genes in 343 individuals from the Emirati Mendelian Study Cohort and 3,007 national electronic health records.ResultsWe identified a total of 735 genes associated with heritable CVD, covering a range of cardiovascular conditions. Enrichment analysis revealed key biological processes and pathways, including Apelin, FoxO, and Ras signaling, that are implicated across all forms of heritable CVD. Analysis of a UAE cohort of 3,350 individuals showed a predominance of rare and unique CVD variants specific to the population. The study found a significant burden of pathogenic variants in families with CVD within the Emirati Mendelian cohort and re-assessed the pathogenicity of 693 variants from national health records, leading to the discovery of new CVD-causing variants.DiscussionThis study underscores the importance of continuously updating our understanding of genes and pathways related to CVD. It also highlights the significant underrepresentation of the UAE population in public databases and clinical literature on CVD genetics, offering valuable insights that can inform future research and intervention strategies.

Tomato spotted wilt virus (TSWV) has significant economic impact on horticulture worldwide. One of the five proteins encoded by TSWV genome is the multifunctional NSs protein, which is a viral suppressor of RNA silencing (VSR) besides functioning as the effector of Tsw resistance gene in resistant pepper cultivars. In this study we demonstrate the in vivo self-interaction of NSs protein using bimolecular fluorescence complementation and yeast two-hybrid assays, and propose that a highly charged alpha helix located at the second half of the protein is required for self-interaction. Furthermore, we confirmed that self-interaction is not required for its effector function on pepper. Moreover, self-interaction is dispensable for gene silencing suppressor activity, although it enhances the suppression efficiency.

Monika Katko,1 Erika Galgoczi,1 Annamaria Erdei,1 Annamaria Gazdag,1 Eszter Berta,1 Miklos Bodor,1 Ildiko Seres,2 Ildiko Hircsu,1 Arpad Badics,1 Bernadett Ujhelyi,3 Livia Sira,1 Harjit Pal Bhattoa,4 Endre V Nagy1 1Division of Endocrinology, Department of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; 2Division of Metabolic Diseases, Department of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; 3Department of Ophthalmology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; 4Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, HngaryCorrespondence: Endre V NagyDivision of Endocrinology, Department of Internal Medicine, Faculty of Medicine, University of Debrecen, 98 Nagyerdei krt, Debrecen, 4032, HungaryTel +36-30-337-1244Email nagy@internal.med.unideb.huIntroduction: Thyroid eye disease (TED) is an autoimmune disease of the orbits. Once developed, complete cure is rare. Plasminogen activator inhibitor type 1 (PAI-1) contributes to remodeling of connective tissue and has a central role in the pathogenesis of TED. We aimed to test if the 4G/5G polymorphism of PAI-1 is a predictor of the development of moderate-to-severe TED.Methods: A total of 185 patients with Graves’ disease, 87 of them with TED, 98 without TED, as well as 201 healthy controls, were studied. Genomic DNA was isolated from peripheral blood samples. The 4G/5G polymorphism of the PAI-1 gene was analyzed by allele-specific PCR, and the distribution of genotypes was calculated in each group. Plasma PAI-1 and thyroid hormone levels were measured by ELISA and ECLIA, respectively.Results: The 4G/4G genotype was associated with the development of moderate-to-severe TED (OR = 2.54; 95% CI: 1.26– 5.14; p < 0.01). The 4G/5G polymorphism of PAI-1 was not a predictor of plasma PAI-1 levels.Conclusion: The 4G/4G genotype of PAI-1 is a risk factor for the development of moderate-to-severe TED. Patients with Graves’ disease who harbor this genotype may be candidates for special attention towards the development of TED.Keywords: thyroid eye disease, Graves’ disease, PAI-1, 4G/5G polymorphism, risk factor

The article discusses the MCLS (Midwest Collaborative for Library Services) Spring eResources Meeting 2024 that was held virtually on April 12, 2024. Key topics discussed included the strategic planning process of the Midwest Collaborative for Library Services (MCLS), evaluations of electronic subscription packages and updates on the MeL databases contract. Attendees included various library professionals, Stephanie Davis, Scott Garrison and Cheryl Hayley.

In statistics, normal distribution has a fundamental role. This study analyses the statistical power of eleven tests of normality: Shapiro--Wilk (SW), Shapiro--Francia (SF), Filliben (F), Kolmogorov--Smirnov (KS), Anderson--Darling (AD), Kuiper (K), Cramér--von Mises (CvM), D'Agostino--Pearson (DP), Jarque--Bera (JB), Chi-square (CS) and Vasicek (V) test. The power comparison is obtained by sampling data from 5 distribution groups with Monte Carlo simulation: support (-∞, ∞) symmetric and asymmetric, support (0, ∞), support (0, 1), and contaminated distributions. We focus on the smaller 10, 20, 30, ..., 100 sample sizes given that econometrics often model macroeconomic and financial time- series within this range of samples. Results suggest that the regression and correlation-based normality tests, such as the Shapiro-Wilk and Filliben tests perform well on distributions with support (-∞, ∞). For distributions with (0, ∞) and (0, 1) support the Shapiro-Wilk and the Vasicek tests have the highest power while on contaminated samples the Jarque--Bera test outperforms them. The results could help statisticians and econometrics to apply the best-performing normality test having a prior assumption or information on the support of the data-generating process. [ABSTRACT FROM AUTHOR]