Intrabiliary rupture of liver hydatid cyst: a case report and review of the literature

Herein, we report a 66 year old woman who was diagnosed to have intrabiliary rupture of liver hydatid cyst with demonstrative computed tomography, magnetic resonance imaging, and magnetic resonance cholangiopancreatography findings, with a review of the literature

Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation

Source at https://doi.org/10.1038/s42003-018-0068-9. Most sequence variants identified hitherto in genome-wide association studies (GWAS) of atrial fibrillation are common, non-coding variants associated with risk through unknown mechanisms. We performed a meta-analysis of GWAS of atrial fibrillation among 29,502 cases and 767,760 controls from Iceland and the UK Biobank with follow-up in samples from Norway and the US, focusing on low-frequency coding and splice variants aiming to identify causal genes. We observe associations with one missense (OR = 1.20) and one splice-donor variant (OR = 1.50) in RPL3L, the first ribosomal gene implicated in atrial fibrillation to our knowledge. Analysis of 167 RNA samples from the right atrium reveals that the splice-donor variant in RPL3L results in exon skipping. We also observe an association with a missense variant in MYZAP (OR = 1.38), encoding a component of the intercalated discs of cardiomyocytes. Both discoveries emphasize the close relationship between the mechanical and electrical function of the heart

Genetic insight into sick sinus syndrome

Aims. The aim of this study was to use human genetics to investigate the pathogenesis of sick sinus syndrome (SSS) and the role of risk factors in its development. Methods and results. We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenhagen Hospital Biobank, UK Biobank, and the HUNT study. Variants at six loci associated with SSS, a reported missense variant in MYH6, known atrial fibrillation (AF)/electrocardiogram variants at PITX2, ZFHX3, TTN/CCDC141, and SCN10A and a low-frequency (MAF = 1.1–1.8%) missense variant, p.Gly62Cys in KRT8 encoding the intermediate filament protein keratin 8. A full genotypic model best described the p.Gly62Cys association (P = 1.6 × 10⁻²⁰), with an odds ratio (OR) of 1.44 for heterozygotes and a disproportionally large OR of 13.99 for homozygotes. All the SSS variants increased the risk of pacemaker implantation. Their association with AF varied and p.Gly62Cys was the only variant not associating with any other arrhythmia or cardiovascular disease. We tested 17 exposure phenotypes in polygenic score (PGS) and Mendelian randomization analyses. Only two associated with the risk of SSS in Mendelian randomization, AF, and lower heart rate, suggesting causality. Powerful PGS analyses provided convincing evidence against causal associations for body mass index, cholesterol, triglycerides, and type 2 diabetes (P > 0.05). Conclusion. We report the associations of variants at six loci with SSS, including a missense variant in KRT8 that confers high risk in homozygotes and points to a mechanism specific to SSS development. Mendelian randomization supports a causal role for AF in the development of SSS

Response of catalase activity to Ag+, Cd2+, Cr6+, Cu2+ and Zn2+ in five tissues of freshwater fish Oreochromis niloticus

PubMedID: 16581305Catalase (CAT, EC 1.11.1.6) is an important enzyme in antioxidant defense system protecting animals from oxidative stress. Freshwater fish Oreochromis niloticus were exposed for 96 h to different concentrations of Ag+, Cd2+, Cr6+, Cu2+ and Zn2+, known to cause oxidative stress, and subsequently CAT activities in liver, kidney, gill, intestine and brain were measured. In vivo, CAT was stimulated by all metals except Ag+ in the liver and the highest increase in CAT activity (183%) resulted from 1.0 mg Cd2+/L exposure, whereas 0.5 mg Ag+/L exposure resulted in a sharp decrease (44%). In tilapia kidney, cadmium and zinc had no significant effects on CAT activity, whereas 0.1 mg Cr6+/L exposure caused a decrease (44%). Cadmium and zinc did not significantly affect the CAT activity in gill; however, 0.5 mg Ag+/L exposure caused an increase (66%) and 1.5 mg Cr6+/L exposure caused a decrease (97%) in CAT activity. All metals, except Cu2+(41% increase), caused significant decreases in CAT activity in the intestine. In brain, 1.0 mg Zn2+/L resulted in an increase in CAT activity (126%), while 1.5 mg Ag+/L exposure caused a 54% decrease. In vitro, all metals - except Ag+ and Cu2+ in kidney - significantly inhibited the CAT activity in all tissues. Results emphasized that CAT may be considered as a sensitive bioindicator of the antioxidant defense system. © 2006 Elsevier Inc. All rights reserved

Investigation of Interferon stimulated genes (ISGs) simultaneously in endometrium, corpus luteum (CL) and peripheral blood mononuclear cells (PBMCs) in early pregnant ewes

19th Annual Conference of the European-Society-for-Domestic-Animal-Reproduction (ESDAR) -- SEP 17-19, 2015 -- Albena, BULGARIAWOS: 000364593400126European Soc Domest Anim Repro

Expression profiles of critical miRNAs in ovine endometrium during the peri-implantation

22nd Annual Conference of the European-Society-for-Domestic-Animal-Reproduction (ESDAR) -- SEP 27-29, 2018 -- Cordoba, SPAINWOS: 000445201100162European Soc Domest Anim ReprodTUBITAK [214O643]Supported by TUBITAK 214O643