• MeSH
• lékařství MeSH
• Publikační typ
• periodika MeSH

• Konspekt
• Lékařské vědy. Lékařství
• NLK Obory
• lékařství

Double and triple bonds have significant effects on the biological activities of lipids. Determining multiple bond positions in their molecules by mass spectrometry usually requires chemical derivatization. This work presents an HPLC/MS method for pinpointing the double and triple bonds in fatty acids. Fatty acid methyl esters were separated by reversed-phase HPLC with an acetonitrile mobile phase. In the APCI source, acetonitrile formed reactive species, which added to double and triple bonds to form [M + C3H5N]+• ions. Their collisional activation in an ion trap provided fragments helpful in localizing the multiple bond positions. This approach was applied to fatty acids with isolated, cumulated, and conjugated double bonds and triple bonds. The fatty acids were isolated from the fat body of early-nesting bumblebee Bombus pratorum and seeds or seed oils of Punicum granatum, Marrubium vulgare, and Santalum album. Using the method, the presence of the known fatty acids was confirmed, and new ones were discovered.

• MeSH
• acetonitrily chemie   MeSH
• estery chemie   izolace a purifikace   MeSH
• hmotnostní spektrometrie MeSH
• mastné kyseliny chemie   izolace a purifikace   MeSH
• molekulární struktura MeSH
• včely chemie   MeSH
• vysokoúčinná kapalinová chromatografie MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: Risk variants identified so far for colorectal cancer explain only a small proportion of familial risk of this cancer, particularly in Asians. METHODS: We performed a genome-wide association study (GWAS) of colorectal cancer in East Asians, including 23,572 colorectal cancer cases and 48,700 controls. To identify novel risk loci, we selected 60 promising risk variants for replication using data from 58,131 colorectal cancer cases and 67,347 controls of European descent. To identify additional risk variants in known colorectal cancer loci, we performed conditional analyses in East Asians. RESULTS: An indel variant, rs67052019 at 1p13.3, was found to be associated with colorectal cancer risk at P = 3.9 × 10-8 in Asians (OR per allele deletion = 1.13, 95% confidence interval = 1.08-1.18). This association was replicated in European descendants using a variant (rs2938616) in complete linkage disequilibrium with rs67052019 (P = 7.7 × 10-3). Of the remaining 59 variants, 12 showed an association at P < 0.05 in the European-ancestry study, including rs11108175 and rs9634162 at P < 5 × 10-8 and two variants with an association near the genome-wide significance level (rs60911071, P = 5.8 × 10-8; rs62558833, P = 7.5 × 10-8) in the combined analyses of Asian- and European-ancestry data. In addition, using data from East Asians, we identified 13 new risk variants at 11 loci reported from previous GWAS. CONCLUSIONS: In this large GWAS, we identified three novel risk loci and two highly suggestive loci for colorectal cancer risk and provided evidence for potential roles of multiple genes and pathways in the etiology of colorectal cancer. In addition, we showed that additional risk variants exist in many colorectal cancer risk loci identified previously. IMPACT: Our study provides novel data to improve the understanding of the genetic basis for colorectal cancer risk.

• MeSH
• Asijci genetika   MeSH
• celogenomová asociační studie MeSH
• dospělí MeSH
• genetická predispozice k nemoci * MeSH
• genetické lokusy * MeSH
• jednonukleotidový polymorfismus MeSH
• kolorektální nádory epidemiologie   genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lidské chromozomy, pár 1 genetika   MeSH
• mutace INDEL MeSH
• rizikové faktory MeSH
• senioři MeSH
• studie případů a kontrol MeSH
• vazebná nerovnováha MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH
• Research Support, N.I.H., Intramural MeSH
• Research Support, U.S. Gov't, P.H.S. MeSH
• Geografické názvy
• Čína MeSH
• Japonsko MeSH
• Korejská republika MeSH

To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P < 5 × 10-8, bringing the number of known independent signals for CRC to ~100. New signals implicate lower-frequency variants, Krüppel-like factors, Hedgehog signaling, Hippo-YAP signaling, long noncoding RNAs and somatic drivers, and support a role for immune function. Heritability analyses suggest that CRC risk is highly polygenic, and larger, more comprehensive studies enabling rare variant analysis will improve understanding of biology underlying this risk and influence personalized screening strategies and drug development.

• MeSH
• celogenomová asociační studie metody   MeSH
• genetická predispozice k nemoci genetika   MeSH
• genotyp MeSH
• jednonukleotidový polymorfismus genetika   MeSH
• kolorektální nádory genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• rizikové faktory MeSH
• RNA dlouhá nekódující genetika   MeSH
• senioři MeSH
• signální transdukce genetika   MeSH
• studie případů a kontrol MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• metaanalýza MeSH

• MeSH
• psychologie práce MeSH
• sociologie MeSH
• Publikační typ
• příručky MeSH

AIMS: The purpose of this international survey was to describe the impact of current practices and techniques of caesarean section on the neonatal Apgar score in the Czech Republic (CZE) and Slovakia (SVK). METHODS: All Czech and Slovak departments that provide obstetric anaesthesia were invited to participate in a one-month (November 2015) prospective study that monitored in details all peripartum anaesthetic practices, delivered by anaesthesiologists. Participating centers recorded all data on-line in the CLADE-IS database (Masaryk University, CZE). RESULTS AND DISCUSSIONS: We collected data of 10119 women who delivered 10226 newborns. A caesarean section was recorded in 25.1% of deliveries (CZE 23.2%; SVK 30%). General anaesthesia was used for caesarean section in 37.5% of the cases (CZE 40%, SVK 33%). There was no statistically significant difference in the Apgar score lower than 7 in the 1, 5 or 10 min in groups of general and regional anaesthesia for caesarean section, when only elective sections of in-term babies with birth weight over 2500 g were analyzed. We found no statistically significant differences in the Apgar score in newborns of women intubated for caesarean section in rocuronium (n=21; 2.2%) and suxamethonium (n=889; 93%). CONCLUSION: We found no difference in neonatal outcomes in groups of general and regional anaesthesia for caesarean section when only out-of-risk newborns were analyzed. The risk factors were identified as follows: an acute caesarean section, preterm babies, birth weight less than 2 500 g, born in perinatological center and multiple pregnancy - second baby. TRIAL REGISTRATION: ClinicalTrials.gov (ID: NCT02380586) https://clinicaltrials.gov/ct2/show/NCT02380586.

• MeSH
• Apgar skóre * MeSH
• celková anestezie statistika a číselné údaje   MeSH
• císařský řez metody   MeSH
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• nervosvalové látky depolarizující terapeutické užití   MeSH
• nervosvalové látky nedepolarizující terapeutické užití   MeSH
• novorozenec MeSH
• porodnická anestezie MeSH
• retrospektivní studie MeSH
• rokuronium terapeutické užití   MeSH
• sukcinylcholin terapeutické užití   MeSH
• svodná anestezie statistika a číselné údaje   MeSH
• těhotenství MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH
• Slovenská republika MeSH