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2.
Anaesth Crit Care Pain Med ; 38(4): 341-345, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30579943

RESUMO

INTRODUCTION: The effect on hand-eye coordination and visuospatial skills made videogames popular for training in laparoscopic surgery. Although similar effects may be true for fiberoptic intubation (FOI), it has not been studied before. The aim of this study was to investigate the effect of playing videogames with gamepad on FOI skills. METHODS: After obtaining ethical approval and informed consent, 36 anaesthesia residents with no experience on fiberoptic intubation were divided into two groups. Group C (n = 18) consisted of the residents without any videogame experience with gamepad. Group PS (n = 18) played a videogame 30 minutes/day for five days. All residents performed their first nasal FOI on a patient undergoing orthognathic surgery with no known difficult intubation under general anaesthesia under supervision of an experienced anaesthesiologist. Intubation time, success rate, pre- and post-intubation SpO2 and etCO2 values were recorded. RESULTS: Intubation time was shorter (P = 0.017) and success rate at the first attempt was higher in Group PS (P = 0.045) compared to Group C. We performed multivariate linear regression analysis to investigate which independent variables (gender of residents, experience in anaesthesiology, dominant hand, study group and previous history of videogame experience) affected our dependent variable intubation time. Backward analysis revealed previous videogame playing history (previous players vs. non-players) was the only significant predictor of intubation time (P = 0.010). CONCLUSION: Although we cannot reliably suggest using videogames as an educational tool for FOI, the results of our study showed that videogame playing history may provide an improvement in FOI time of novices in actual operating-theatre environment.


Assuntos
Anestesiologia/educação , Tecnologia de Fibra Óptica/educação , Internato e Residência/métodos , Intubação Intratraqueal , Jogos de Vídeo , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
3.
Eur J Paediatr Neurol ; 21(5): 773-782, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28566192

RESUMO

Benign Familial Infantile Epilepsy (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily generalized seizures with onset at the age of 3-7 months and with favorable outcome. PRRT2 mutations are the most common cause of BFIE, and found in about 80% of BFIE families. In this study, we analyzed a large multiplex BFIE family by linkage and whole exome sequencing (WES) analyses. Genome-wide linkage analysis revealed significant evidence for linkage in the chromosomal region 19p12-q13 (LOD score 3.48). Mutation screening of positional candidate genes identified a synonymous SCN1B variant (c.492T>C, p.Tyr164Tyr) affecting splicing by the removal of a splicing silencer sequence, shown by in silico analysis, as the most likely causative mutation. In addition, the PRRT2 frameshift mutation (c.649dupC/p.Arg217Profs*8) was observed, showing incomplete, but high segregation with the phenotype. In vitro splicing assay of SCN1B expression confirmed the in silico findings showing a splicing imbalance between wild type and mutant exons. Herein, the involvement of the SCN1B gene in the etiology of BFIE, contributing to the disease phenotype as a modifier or part of an oligogenic predisposition, is shown for the first time.


Assuntos
Epilepsia Neonatal Benigna/genética , Síndromes Epilépticas/genética , Mutação/genética , Convulsões/genética , Subunidade beta-1 do Canal de Sódio Disparado por Voltagem/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Adulto Jovem
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