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排序方式: 共有2931条查询结果,搜索用时 15 毫秒
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Emmi Helle Aldo Córdova-Palomera Tiina Ojala Priyanka Saha Praneetha Potiny Stefan Gustafsson Erik Ingelsson Michael Bamshad Deborah Nickerson Jessica X. Chong University of Washington Center for Mendelian Genomics Euan Ashley James R. Priest 《Genetic epidemiology》2019,43(2):215-226
Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank. Two rare intronic variants in strong linkage disequilibrium displayed significant association with risk for LVOTO amongst European-ancestry individuals. This result was replicated in an independent analysis of 210 cases and 68,762 controls of non-European and mixed ancestry. In conclusion, carrying rare predicted loss of function variants in NOTCH1 confer significant risk for LVOTO. In addition, the two intronic variants seem to be associated with an increased risk for these defects. Our approach demonstrates the utility of population-based data sets in quantifying the specific risk of individual variants for disease-related phenotypes. 相似文献
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Dr. med. J. Graf Univ.-Prof. Dr. med. H. Wulf Prof. Dr. med. U. Janssens FESC 《Intensivmedizin und Notfallmedizin》2007,44(1):3-10
Ohne Zusammenfassung 相似文献
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Experimental studies demonstrated a severe cardiac load of the CO2 pneumoperitoneum caused by an accelerated after- and a decreased preload. Patients displaying cardiovascular risks are therefore
often rejected from laparoscopic surgery. Hence, the pathophysiological changes and the intraoperative risk of the CO2 pneumoperitoneum in high-risk cardiopulmonary patients (NYHA II–III, n= 15) undergoing laparoscopic cholecystectomy are described. The changes in cardiac after- and preload seem to be due to the
elevated intraabdominal pressure rather than transperitoneally resorbed CO2 and are reversible by desufflation. In one patient conversion to open operation had to be performed because of a severe drop
in cardiac output and right ventricle ejection fraction. Mixed oxygen saturation was predicting intraoperative worsening in
this case. The described pathophysiological changes may seem to be well tolerated even in high-risk cardiac patients. Monitoring
of hemodynamics should include an arterial catheter line and blood gas analyses. Pharmacologic interventions or pressureless
laparoscopic procedures might not be necessary as long as laparoscopic cholecystectomy is performed.
Received: 13 December 1996/Accepted: 8 January 1997 相似文献
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H. Wulf 《Der Anaesthesist》1997,46(7):622-626
S-Ropivacaine is a new, long-acting amide local anaesthetic. It is the first local anaesthetic to be on the market as a single isomer. Its pharmacodynamic and pharmacokinetic profile is similar to that of bupivacaine. In vitro and in vivo experiments have shown ropivacaine to be less cardiotoxic than bupivacaine. When given epidurally, both local anaesthetics are equally effective in producing sensory block, but motor block seems to be less pronounced in the case of ropivacaine. This pharmacodynamic profile suggests that ropivacaine has a greater margin of safety and should be a valuable candidate in applications where motor blockade is to be avoided, e.g. for postoperative epidural analgesia and for epidural analgesia in obstetrics. 相似文献
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