• MeSH
• antigeny MeSH
• lymfatický systém MeSH
• Publikační typ
• vysokoškolské kvalifikační práce MeSH

• Konspekt
• Experimentální medicína
• NLK Obory
• alergologie a imunologie
• experimentální medicína

This double-blind placebo-controlled cross-over study utilized comprehensive monitoring of blood bicarbonate (HCO3 ̄) kinetics and evaluation of gastrointestinal (GI) upset to determine their impact on an ergogenic potential of sodium bicarbonate (SB) co-ingested with carbohydrate (CHO). Nineteen CrossFit athletes performed 6 bouts of 15 s Wingate Anaerobic Test (WAnT) 90 min post-ingestion of 0.4 g·kg-1 body mass (BM) of SB (SB + CHO treatment) or PLA (PLA + CHO treatment) with 15 g CHO. Blood HCO3 ̄ concentration was evaluated at baseline, 30-, 60-, 75- and 90 min post-ingestion, in between WAnT bouts, and 3 and 45 min post-exercise, while GI upset at 120 min after protocol started. Control (no supplementation; CTRL) procedures were also performed. An effective elevation of extra-cellular buffering capacity was observed 60-90 min post-ingestion of SB + CHO. At mean peak blood HCO3 ̄, or at start of exercise an increase > 6 mmol·L-1 in HCO3 ̄ was noted in 84% and 52.6% participants, respectively. SB + CHO did not prevent performance decrements in WAnT bouts. There were no significant relationships between changes in blood HCO3 ̄ and WAnTs' performance. Total GI was significantly higher in SB + CHO compared to CTRL, and stomach problems in SB + CHO compared to CTRL and PLA + CHO. There were inverse associations between peak- (p = 0.031; r = - 0.495), average- (p = 0.002; r = - 0.674) and minimum power (p = 0.008; r = - 0.585) and total GI upset, as well as average power and severe GI distress (p = 0.042; r = - 0.471) at SB + CHO. The implemented dose of SB + CHO was effective in improving buffering capacity, but did not prevent decrements in WAnTs' performance. GI side effects were crucial in affecting the ergogenic potential of SB and thus must be insightfully monitored in future studies.

• MeSH
• dvojitá slepá metoda MeSH
• gastrointestinální nemoci * chemicky indukované   MeSH
• hydrogenuhličitan sodný škodlivé účinky   MeSH
• hydrogenuhličitany MeSH
• klinické křížové studie MeSH
• lidé MeSH
• polyestery MeSH
• sportovní výkon * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• randomizované kontrolované studie MeSH

In amyloid light chain (AL) amyloidosis, amyloid fibrils derived from immunoglobulin light chain are deposited in many organs, interfering with their function. The etiology of AL amyloidosis is poorly understood. Summary data from genome-wide association studies (GWASs) of multiple phenotypes can be exploited by Mendelian randomization (MR) methodology to search for factors influencing AL amyloidosis risk. We performed a 2-sample MR analyzing 72 phenotypes, proxied by 3461 genetic variants, and summary genetic data from a GWAS of 1129 AL amyloidosis cases and 7589 controls. Associations with a Bonferroni-defined significance level were observed for genetically predicted increased monocyte counts (P = 3.8 × 10-4) and the tumor necrosis factor receptor superfamily member 17 (TNFRSF17) gene (P = 3.4 × 10-5). Two other associations with the TNFRSF (members 6 and 19L) reached a nominal significance level. The association between genetically predicted decreased fibrinogen levels may be related to roles of fibrinogen other than blood clotting. be related to its nonhemostatic role. It is plausible that a causal relationship with monocyte concentration could be explained by selection of a light chain-producing clone during progression of monoclonal gammopathy of unknown significance toward AL amyloidosis. Because TNFRSF proteins have key functions in lymphocyte biology, it is entirely plausible that they offer a potential link to AL amyloidosis pathophysiology. Our study provides insight into AL amyloidosis etiology, suggesting high circulating levels of monocytes and TNFRSF proteins as risk factors.

• MeSH
• amyloidóza * genetika   MeSH
• celogenomová asociační studie MeSH
• lidé MeSH
• mendelovská randomizace MeSH
• primární amyloidóza * MeSH
• rizikové faktory MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• MeSH
• nemoci cervix uteri patologie   MeSH
• nemoci vulvy patologie   MeSH
• vaginální onemocnění patologie   MeSH

• Konspekt
• Gynekologie. Porodnictví
• NLK Obory
• gynekologie a porodnictví
• patologie

• MeSH
• nemoci cervix uteri patofyziologie   MeSH
• nemoci vulvy patofyziologie   MeSH
• vaginální onemocnění patofyziologie   MeSH

• Konspekt
• Lékařské vědy. Lékařství
• NLK Obory
• gynekologie a porodnictví
• patologie

• Konspekt
• Gynekologie. Porodnictví
• NLK Obory
• gynekologie a porodnictví

Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.

• MeSH
• Bayesova věta MeSH
• celogenomová asociační studie * MeSH
• genetická predispozice k nemoci * MeSH
• jednonukleotidový polymorfismus * MeSH
• lidé MeSH
• lokus kvantitativního znaku * MeSH
• mapování chromozomů metody   MeSH
• nádorové biomarkery genetika   MeSH
• nádory prsu genetika   MeSH
• regulační oblasti nukleových kyselin MeSH
• rizikové faktory MeSH
• vazebná nerovnováha MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH

• MeSH
• gynekologická onemocnění MeSH
• gynekologické chirurgické výkony MeSH
• hysteroskopie MeSH
• Publikační typ
• atlasy MeSH

• Konspekt
• Lékařské vědy. Lékařství
• NLK Obory
• gynekologie a porodnictví
• chirurgie

• MeSH
• gynekologie MeSH
• hysteroskopie MeSH
• laparoskopie MeSH
• Publikační typ
• atlasy MeSH

• Konspekt
• Ortopedie. Chirurgie. Oftalmologie
• NLK Obory
• gynekologie a porodnictví
• chirurgie
• radiologie, nukleární medicína a zobrazovací metody

• MeSH
• aktivátory plazminogenu terapeutické užití   chemie   farmakoterapie   MeSH
• infarkt myokardu terapie   MeSH
• trombolytická terapie MeSH
• Publikační typ
• kongresy MeSH
• sborníky MeSH

• Konspekt
• Patologie. Klinická medicína
• NLK Obory
• kardiologie
• angiologie