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101.
102.
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
103.
Peter Marhofer Malachy Columb Phil M. Hopkins Manfred Greher Daniela Marhofer Max R. Levi Bienzle Markus Zeitlinger 《British journal of anaesthesia》2019,122(4):525-531
Background
The efficacy of dexamethasone in extending the duration of local anaesthetic block is uncertain. In a randomised controlled triple blind crossover study in volunteers, we tested the hypothesis that neither i.v. nor perineurally administered dexamethasone prolongs the sensory block achieved with ropivacaine.Methods
Ultrasound-guided ulnar nerve blocks (ropivacaine 0.75% wt/vol, 3 ml, with saline 1 ml with or without dexamethasone 4 mg) were performed on three occasions in 24 male volunteers along with an i.v. injection of saline 1 ml with or without dexamethasone 4 mg. The combinations of saline and dexamethasone were as follows: control group, perineural and i.v. saline; perineural group, perineural dexamethasone and i.v. saline; i.v. group, perineural saline and i.v. dexamethasone. Sensory block was measured using a VAS in response to pinprick testing. The duration of sensory block was the primary outcome and time to onset of sensory block the secondary outcome.Results
All 24 subjects completed the trial. The median [inter-quartile range (IQR)] duration of sensory block was 6.87 (5.85–7.62) h in the control group, 7.37 (5.78–7.93) h in the perineural group and 7.37 (6.10–7.97) h in the i.v. group (P=0.61). There was also no significant difference in block onset time between the three groups.Conclusion
Dexamethasone 4 mg has no clinically relevant effect on the duration of sensory block provided by ropivacaine applied to the ulnar nerve.Clinical trial registration
DRKS, 00014604; EudraCT, 2018-001221-98. 相似文献104.
105.
106.
Heather R. Nolan Juan Gurria Jose L. Peiro Sammy Tabbah Ramiro Diaz-Primera William Polzin Mounira Habli Foong-Yen Lim 《Journal of pediatric surgery》2019,54(6):1153-1158
PurposeCongenital high airway obstruction syndrome (CHAOS) is a devastating fetal condition of complete airway discontinuity resulting in significant hydrops and extreme lung hyperplasia. It is universally fatal with survival reported only in the rare spontaneous fistulization or EXIT intervention (Ex Utero Intrapartum Treatment). Even in these cases, mortality remains high, and current investigations are targeting prenatal interventions. This report describes our experience with management and fetal interventions for CHAOS, including laser laryngotomy.MethodsWe retrospectively reviewed all patients diagnosed with CHAOS at a single academic institution between 2006 and 2017.ResultsFifteen patients were identified. Eight had obstruction at the trachea and seven at the larynx. In the laryngeal obstructions, three expired shortly after birth, and one survived after spontaneous fistulization and subsequent EXIT to tracheostomy. The remaining three underwent in-utero treatment with laser laryngotomy. One had preterm premature rupture of membranes (PPROM), delivered 3 days post-operatively, and died. Two underwent EXIT to tracheostomy with one surviving to discharge and is currently 2 years old.ConclusionOur study demonstrates the outcomes of a large series of patients diagnosed with CHAOS. While mortality remains high, options for fetal intervention are being explored to allow alterations in the prenatal natural history and improve postnatal outcomes.Type of StudyRetrospective Treatment Study.Level of EvidenceLevel IV. 相似文献
107.
A. Ríos A.I. López-Navas M.A. Ayala G. Garrido M.J. Sebastián J. Carrillo Á. Sánchez J. Flores-Medina J.J. Ruiz-Manzanera A.M. Hernández P. Ramírez P. Parrilla 《Transplantation proceedings》2019,51(2):258-260
The Latin American population has a double way of immigration, one toward the United States by proximity and another toward Spain by sociocultural affinity. This population increase is affecting organ donation and transplantation in receiving countries.
Objective
To analyze the brain death (BD) concept knowledge in the Dominican Republic immigrant population in Florida (United States) and Spain.Method
Population under study: Population born in the Dominican Republic, resident in Florida (United States) and in Spain. Inclusion criteria: Population older than 15 years stratified by age and sex. Assessment instrument: Donation attitude questionnaire PCID-DTO-Ríos. Fieldwork: Random selection based on stratification. Immigration support association collaboration in Florida and Spain was needed to locate potential respondents. Completion was anonymous and self-administered, with verbal consent.Results
A total of 123 respondents, 57 residents in Spain and 66 in Florida, have been included in the study. The 27% (n = 33) of the respondents knowledgeable of the BD concept consider it the death of an individual. Of the remainder, 52% (n = 64) do not know about it, and the remaining 21% (n = 26) believe it does not mean the death of a patient. No differences were observed regarding migration countries (P > .05). There was no association of the BD concept with other psychosocial factors analyzed or with the attitude toward organ donation.Conclusions
Knowledge of the BD concept among the Dominican immigrant population is similar in Spain and Florida, and, unlike most studies, there is no objective association with the attitude toward organ donation. 相似文献108.
109.
110.
Darren R. Feldman MD Yasser Ged MBBS Chung-Han Lee PhD Andrea Knezevic MS Ana M. Molina MD Ying-Bei Chen PhD Joshua Chaim DO Devyn T. Coskey MS Samuel Murray MS Satish K. Tickoo MD Victor E. Reuter MD Sujata Patil PhD Han Xiao MD Jahan Aghalar MD Arlyn J. Apollo MD Maria I. Carlo MD Robert J. Motzer MD Martin H. Voss MD 《Cancer》2020,126(24):5247-5255