Genetic screening for IRF6 and GRHL3 in Brazilians with non-syndromic cleft lip/palate / Triagem genética de IRF6 e GRHL3 em brasileiros com fissura lábio/palato não sindrômica

Cleft lip with or without cleft palate (CL/P) is the most frequent craniofacial anomaly. Advances in molecular and quantitative analysis suggests that the etiology is multifactorial of nonsyndromic CL/P (NSCL/P), and provide new opportunities to identify genes and gene-environment interactions relevant to the etiology of this common and representative birth defect. The present study aimed at detecting genetic variants in IRF6 and GRHL3 genes and susceptibility to NSCL/P in West Central and Northern Brazilian populations. We analyzed a set of 80 individuals with NSCL/P from Associação de Combate as Deformidades Faciais, recruited from Midwest and Northern Brazil. We performed Multiplex Ligation-dependent Probe Amplification (P304-B1-IRF6/GRHL3 (Lot B1-0116)) and PCR analysis for confirmation. In the MPLA study exon 4 of GRHL3, show possible alteration. Therefore, we performed a PCR validation of these alterations. The results showed no alteration on these genes (IRF6 and GRHL3) corroborating with previous studies. To our knowledge, this study of both genes is the first in these specific areas of Brazil, analyzing individuals with NSCL/P. Studies have identified a missense variant in the gene grainyhead-like-3 (GRHL3) in cleft palate individuals. The contribution of these genetic variants to NSCL/P susceptibility should be further investigated in different populations and cohorts. Thus, the underlying genetic causes of NSCL/P remain largely unknown

ANÁLISE DO DESEMPENHO OCUPACIONAL DE ADOLESCENTES COM EXCESSO DE PESO ASSOCIADO AO RENDIMENTO ESCOLAR

ANÁLISE DO DESEMPENHO OCUPACIONAL DE ADOLESCENTES COMEXCESSO DE PESO ASSOCIADO AO RENDIMENTO ESCOLA

Report 1: Exploring Curation-ready Software: Use Cases

This is the first progress report of the Software Preservation Network Curation-ready Software Working Group. Also available here http://www.softwarepreservationnetwork.org/exploring-curation-ready-software-use-cases

Supplemental Material, DS1_CPCJ_10.1177_1055665618782806 - Premaxillary Setback With Posterior Vomerine Ostectomy: Outcomes of Single-Stage Repair of Complete Bilateral Cleft Lip With a Severely Protruding Premaxilla

<p>Supplemental Material, DS1_CPCJ_10.1177_1055665618782806 for Premaxillary Setback With Posterior Vomerine Ostectomy: Outcomes of Single-Stage Repair of Complete Bilateral Cleft Lip With a Severely Protruding Premaxilla by Fernando Almas, Valerie Cote, Elie P. Ramly, Rami S. Kantar, and Usama Hamdan in The Cleft Palate-Craniofacial Journal</p

Protocol for a systematic review of outcomes from microsurgical free-tissue transfer performed on short-term collaborative surgical trips in low-income and middle-income countries

Abstract Background In many units around the world, microsurgical free-tissue transfer represents the gold standard for reconstruction of significant soft tissue defects following cancer, trauma or infection. However, many reconstructive units in low-income and middle-income countries (LMICs) do not yet have access to the resources, infrastructure or training required to perform any microsurgical procedures. Long-term international collaborations have been formed with annual short-term reconstructive missions conducting microsurgery. In the first instance, these provide reconstructive surgery to those who need it. In the longer-term, they offer an opportunity for teaching and the development of sustainable local services. Methods A PRISMA-compliant systematic review and meta-analysis will be performed. A comprehensive, predetermined search strategy will be applied to the MEDLINE and Embase electronic databases from inception to August 2021. All clinical studies presenting sufficient data on free-tissue transfer performed on short-term collaborative surgical trips (STCSTs) in LMICs will be eligible for inclusion. The primary outcomes are rate of free flap failure, rate of emergency return to theatre for free flap salvage and successful salvage rate. The secondary outcomes include postoperative complications, cost effectiveness, impact on training, burden of disease, legacy and any functional or patient reported outcome measures. Screening of studies, data extraction and assessments of study quality and bias will be conducted by two authors. Individual study quality will be assessed according to the Oxford Evidence-based Medicine Scales of Evidence 2, and risk of bias using either the ‘Revised Cochrane risk of bias tool for randomized trials’ (Rob2), the ‘Risk of bias in non-randomized studies of interventions’ (ROBINS-I) tool, or the National Institute for Health Quality Assessment tool for Case Series. Overall strength of evidence will be assessed according to the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) approach. Discussion To-date the outcomes of microsurgical procedures performed on STCSTs to LMICs are largely unknown. Improved education, funding and allocation of resources are needed to support surgeons in LMICs to perform free-tissue transfer. STCSTs provide a vehicle for sustainable collaboration and training. Disseminating microsurgical skills could improve the care received by patients living with reconstructive pathology in LMICs, but this is poorly established. This study sets out a robust protocol for a systematic review designed to critically analyse outcomes. Systematic review registration PROSPERO 22561

Sustainable cleft care through education : the first simulation-based comprehensive workshop in the Middle East and North Africa region

Objective: To describe the conduct of the first multidisciplinary simulation-based workshop in the Middle East/North Africa region and evaluate participant satisfaction. Design: Cross-sectional survey-based evaluation. Setting: Educational comprehensive multidisciplinary simulation-based cleft care workshop. Participants: Total of 93 workshop participants from over 20 countries. Interventions: Three-day educational comprehensive multidisciplinary simulation-based cleft care workshop. Main Outcome Measures: Number of workshop participants, number of participants stratified by specialty, satisfaction with workshop, number of workshop staff, and number of workshop staff stratified by specialty. Results: The workshop included 93 participants from over 20 countries. The response rate was 47.3%, and participants reported high satisfaction with all aspects of the workshop. All participants reported they would recommend it to colleagues (100.0%) and participate again (100.0%). No significant difference was detected based on participant specialty or years of experience. The majority were unaware of other cleft practitioners in their countries (68.2%). Conclusion: Multidisciplinary simulation-based cleft care workshops are well received by cleft practitioners in developing countries, serve as a platform for intellectual exchange, and are only possible through strong collaborations. Advocates of international cleft surgery education should translate these successes from the regional to the global arena in order to contribute to sustainable cleft care through education