Background:Health inequities represent a persistent and multifaceted challenge, particularly pronounced for individuals with intellectual and developmental disabilities (IDDs), including Down syndrome (DS). This population frequently faces systemic barriers to care and is at higher risk of adverse health outcomes. Despite advances, gaps persist in health care professionals' training for caring for this population. Undergraduate medical education constitutes a crucial component in addressing these disparities and promoting inclusive care, especially through practical experiences for future physicians. Objective:This study aims to map and synthesize evidence regarding undergraduate medical education for the care of individuals with DS and other IDDs in medical schools, identifying gaps and opportunities for enhancement in curricula and educational programs, including pedagogical strategies and experiential learning opportunities. Methods:A scoping review following the methodological frameworks by Arksey and O'Malley, Levac et al, and the Joanna Briggs Institute will be conducted. The search will be performed in electronic databases and gray literature sources using descriptors in English, Portuguese, and Spanish. Study selection will involve undergraduate medical students as the target population. Two independent reviewers will perform study selection following predefined inclusion and exclusion criteria. Data will be extracted using a standardized form and synthesized narratively, with qualitative (thematic) and descriptive quantitative analyses where appropriate. This protocol has been registered with the Open Science Framework and will adhere to the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines. Results:A comprehensive overview of current undergraduate medical education regarding the care of individuals with DS and other IDDs will be provided, informing the development of more effective and inclusive interventions and yielding insights into existing pedagogical strategies, practical learning opportunities, and medical students' knowledge and attitudes toward this population, providing a foundation for evidence-based recommendations. Conclusions:This review will address an important gap in the literature, providing insights for the improvement of undergraduate medical education and clinical practice in caring for individuals with DS and other IDDs, contributing to the development of more capable and empathetic professionals. By systematically mapping the current landscape and identifying specific needs, this protocol lays the groundwork for transformative changes in medical curricula worldwide, ultimately enhancing health outcomes for this vulnerable population.
INTRODUÇÃO Os aneurismas da artéria cerebral média são os mais frequentemente abordados por via microcirúrgica em razão da acessibilidade e das características anatômicas favoráveis à clipagem direta. Apesar disso, o tratamento exige domínio técnico e profundo conhecimento microanatômico, considerando-se a relação íntima com ramos corticais e perfurantes essenciais. O treinamento em microcirurgia e o uso de técnicas de dissecção progressiva sob magnificação são fundamentais para minimizar complicações e otimizar resultados. OBJETIVOS Relatar a experiência no tratamento microcirúrgico de aneurismas não rotos da artéria cerebral média no noroeste paulista, descrevendo o perfil clínico, as abordagens técnicas e os resultados clínicos obtidos. METODOLOGIA Trata-se de estudo retrospectivo de pacientes portadores de aneurismas não rotos da artéria cerebral média submetidos à clipagem microcirúrgica entre janeiro de 2016 e março de 2025. Foram avaliadas variáveis clínicas, dimensões aneurismáticas, técnicas utilizadas e desfechos pós-operatórios. RESULTADOS Foram incluídos 275 pacientes, sendo 169 homens (61,5%) e 106 mulheres (38,5%), com média de idade de 47 anos. O diâmetro médio dos aneurismas foi de 5,6 mm. Todos os pacientes foram submetidos à clipagem microcirúrgica com monitorização intraoperatória. Ocorreram complicações graves em dois casos (0,7%) e mortalidade em um paciente (0,36%). A taxa de exclusão aneurismática completa foi de 98,9%. CONCLUSÃO O tratamento microcirúrgico dos aneurismas da artéria cerebral média demonstrou resultados seguros e consistentes nesta série regional. A baixa morbimortalidade observada reflete a importância do preparo técnico, do domínio anatômico e da análise individualizada de cada caso para alcançar resultados duradouros e seguros.
Endoscopic sleeve gastroplasty (ESG) is increasingly combined with anti-obesity medications (AOMs), but the incremental benefit of combination therapy over ESG alone remains uncertain This systematic review and meta-analysis followed PRISMA guidelines and was registered in PROSPERO (CRD420251179747). Comparative studies evaluating ESG plus AOMs versus ESG alone in adults with overweight or obesity were included. Random-effects models were used for pooled analyses Ten studies comprising 578 participants met inclusion criteria. At approximately seven months, combination therapy showed a modest, non-significant advantage in total weight loss (mean difference +1.9
Background:Pathogenic variants of the COQ7 gene result in a spectrum of neurological diseases, mainly distal hereditary motor neuropathy (dHMN). We herein report cases of dHMN related to biallelic p.Met1? (c.3G > T [NM_016138]). We compare phenotypes among different COQ7variants reported in the literature. Objective:To describe and analyze our case series, review COQ7-related diseases, and compare our case series with the literature reports. Methods:We described 5 dHMN-p.Met1? patients and searched dHMN AND Brazil and COQ7 in the PubMed/MEDLINE, SciELO and Scopus databases. The categorical variables were expressed as absolute frequencies, and they were compared using the Fisher's exact test and odds ratios with 95%CIs; moreover, exploratory multivariate logistic models with penalization were applied to adjust the associations for genotype/geographic origin. Results:We analyzed four patients with dHMN plus (two with pyramidal syndrome [PS], one with cerebellar ataxia [CA] and PS, and one with cognitive impairment [CI]) and one with pure dHMN. Our search identified 47 cases of COQ7-related disorders, and The p.Met1? variant was more frequent in dHMN (p < 0.001). In exploratory multivariate models adjusting for genotype/geographic origin, the associations observed in the univariate analyses were partially sustained. The p.Met1? variant remained related to earlier age at onset, CI, and proximal lower limb weakness, whereas Brazilian origin continued to show association with cerebellar manifestations. The 95%CIs were wide due to the small sample, and the results should be interpreted as exploratory. Conclusion:In conclusion, our findings suggest that the p.Met1? variant is associated with selected phenotype, even after adjustment for genotype/geographic origin. Brazilian origin remained independently related to cerebellar involvement, indicating potential modifying factors beyond genotype.
BACKGROUND:The pathophysiology of necrotizing enterocolitis (NEC) involves changes in intestinal development that hinder its functionality, leading to both metabolic and gene and phenotypic changes. Among the genetic factors the 896A/G polymorphism in the Toll-Like Receptor 4 (TLR4) gene can trigger is an inappropriate and persistent inflammatory response, leading to the progression of lesions and necrosis of the intestinal mucosa, and reduced perfusion of the microvasculature, increasing susceptibility to the disease. AIMS:To determine the prevalence of the 896A/G polymorphism in the TLR4 gene in neonates with and without NEC. METHODS:Case-control study, in which 100 neonates were evaluated, 50 diagnosed with NEC (Case Group) and 50 without the disease (Control Group), of both sexes. DNA was extracted from peripheral blood leukocytes, and the region encompassing the polymorphism was amplified by polymerase chain reaction/restriction fragment length polymorphism. RESULTS:Males were predominant in both groups: Cases (54%) and Controls (56%) (p=1.0000). Moderately and extremely preterm infants were the most frequent in the Case (90%) and Controls (96%) (p=0.6132) groups. Very low birth weight and extremely low birth weight neonates were predominant in the Case Group (60%) and in the Control Group (72%) (p=0.0995). Of the 50 neonates with NEC, 66% responded positively to clinical treatment, and 86% were discharged from hospital. The 896A/G polymorphism in the TLR4 gene was not identified in the 200 alleles analyzed (100%). CONCLUSIONS:The absence of the 896A/G polymorphism in the TLR4 gene in NBs with and without NEC does not exclude the possibility of alterations in this and/or other genes, highlighting the importance of additional studies to elucidate this relationship.
