RESUMO
Introduction: Microsurgical training is an asset for deployed military orthopaedic surgeons who frequently treat hand or nerve injuries in the field. The objective of this study was to evaluate a microvascular surgery simulation model intended to prepare residents prior to their enrolment in conventional microsurgery degree training. Methods: An experimental study was conducted to evaluate technical progress and satisfaction of military surgical residents using a model based on Japanese noodles with four tests of increasing difficulty. Objective endpoints included instruments handling, distribution, and quality of stitches, as well as anastomoses duration. Responses to the Structured Assessment of Microsurgery Skill self-assessment questionnaire were also analyzed. Results: Nine residents from different specialties participated in the study. Their anastomoses quality and average satisfaction significantly increased between the first and the last session (p < 0.05). Conversely, the average operating time decreased significantly over the sessions (p < 0.001). Conclusion: This simulation model seems to constitute a satisfactory initiation to microsurgery and could limit the use of animal models. It could also be included in the continuing education of military surgeons who have an occasional microsurgical practice during deployments.
RESUMO
PURPOSE: In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes, CC2D2A. METHODS: We selected 53 patients with pathogenic variants on CC2D2A, compiled and analysed their clinical, neuroimaging and genetic information and compared it to previous literature. RESULTS: Developmental delay (motor and language) was nearly constant but patients had normal intellectual efficiency in 74% of cases (20/27 patients) and 68% followed mainstream schooling despite learning difficulties. Epilepsy was found in only 13% of cases. Only three patients had kidney cysts, only three had genuine retinal dystrophy and no subject had liver fibrosis or polydactyly. Brain MRIs showed typical signs of JS with rare additional features. Genotype-phenotype correlation findings demonstrate a homozygous truncating variant p.Arg950* linked to a more severe phenotype. CONCLUSION: This study contradicts previous literature stating an association between CC2D2A-related JS and ventriculomegaly. Our study implies that CC2D2A-related JS is linked to positive neurodevelopmental outcome and low rate of other organ defects except for homozygous pathogenic variant p.Arg950*. This information will help modulate patient follow-up and provide families with accurate genetic counselling.