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Abstract Nowadays, exome sequencing is a robust and cost-efficient genetic diagnostic tool already implemented in many clinical laboratories. Despite it has undoubtedly improved our diagnostic capacity and has allowed the discovery of many new Mendelian-disease genes, it only provides a molecular diagnosis in up to 25–30% of cases. Here, we comprehensively evaluate the results of a large sample set of 4974 clinical exomes performed in our laboratory over a period of 5 years, showing a global diagnostic rate of 24.62% (1391/4974). For the evaluation we establish different groups of diseases and demonstrate how the diagnostic rate is not only dependent on the analyzed group of diseases (43.12% in ophthalmological cases vs 16.61% in neurological cases) but on the specific disorder (47.49% in retinal dystrophies vs 24.02% in optic atrophy; 18.88% in neuropathies/paraparesias vs 11.43% in dementias). We also detail the most frequent mutated genes within each group of disorders and discuss, on our experience, further investigations and directions needed for the benefit of patients.

Abstract Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted that variants need to be validated using Sanger sequencing before reporting. Validation of all NGS variants considerably increases the turnaround time and costs of clinical diagnosis. We comprehensively assessed this need in 1109 variants from 825 clinical exomes, the largest sample set to date assessed using Illumina chemistry reported. With a concordance of 100%, we conclude that Sanger sequencing can be very useful as an internal quality control, but not so much as a verification method for high-quality single-nucleotide and small insertion/deletions variants. Laboratories might validate and establish their own thresholds before discontinuing Sanger confirmation studies. We also expand and validate 23 copy number variations detected by exome sequencing in 20 samples, observing a concordance of 95.65% (22/23).

Violence is a major public health problem globally, with the highest rates in low- and middle-income countries (LMICs) in the Americas and southern Africa. Parenting programmes in high-income countries can diminish risk for violence, by reducing risk factors such as child aggression and harsh parenting, and increasing protective factors such as child cognitive development and school readiness. However, there is critical need to identify low-cost programmes with replicable benefits that work in real-world LMICs contexts. A three-arm, randomised, single-blind trial evaluated effects of two low-cost, group-based parenting programmes recommended for LMICs (ACT: Raising Safe Kids; DBS: dialogic book-sharing) on child aggression (primary outcome), child development, parenting, maltreatment, and stress. Participants were 369 children with medium-high levels of aggression (mean age 3.1 years at baseline) in poor households. Interventions were implemented in city health and education services in southern Brazil. Maternal reports, filmed observations, child tasks, and hair cortisol were assessed at baseline, 1-month post-intervention, and 8-month follow-up. Intention-to-treat analyses compared each of ACT and DBS with a control group. Three hundred sixty-eight (99.7%) participants completed follow-up assessments 8 months after the interventions. There was no effect of ACT (standardised mean difference, SMD 0.11, 95% CI - 0.05, 0.27) or DBS (SMD 0.05, 95% CI - 0.11, 0.21) on the primary outcome of child aggression. ACT reduced harsh parenting behaviour post-intervention (SMD - 0.23; 95% CI - 0.46, 0.01), but not at follow-up. DBS improved book-sharing practices at both time points (e.g., maternal sensitivity at follow-up SMD 0.33; 95% CI 0.08, 0.57). There were no benefits of either programme for other parenting, child development, or stress outcomes. Two parenting programmes in Brazil had small effects on parenting practices but did not reduce child aggression or several other important risk/protective factors for violence. Effective early interventions that reduce violence in real-world LMIC settings are highly desirable but may be challenging to achieve.

Most research on emotions and behaviors in science education has used observational or declarative methods. These approaches present certain strengths, but they have important limitations for deepening our understanding of the affective domain. In this work, we develop a method for analyzing the dynamics of affective variables during an inquiry-based activity with an artificial intelligence system that recognizes facial expressions. Although the study was carried out on 12 students, here we analyze data from one person to describe the method in detail. The videos were processed with a software which outputs behavioral and emotional signals. To analyze them, we applied centered moving averages with different widths. This allowed us to align and interpret the dynamics of emotional, behavioral, and learning actions. We found spikes of Surprise when the student seemingly implemented their models, and their predictions were not met. Our analysis suggests the existence of four phases in the inquiry-based activity with specific dynamic profiles. This work lays the foundations for researchers and teachers to develop tools to monitor emotions and behaviors.

El año 1882 se fundó en Valparaíso el primer club de fútbol del país, iniciándose así una primera etapa organizacional, que concluyó con la creación de la Football Association of Chile en 1895. Sin embargo, a mediados del año 1896, el periódico La Unión anunciaba que en la ciudad puerto se había desatado el fenómeno de la “Football-Manía”, aludiendo a la acción de jóvenes que seguían buscando en cualquier espacio disponible la posibilidad de desarrollar informalmente esta nueva práctica deportiva. En este artículo se presenta la investigación realizada que logró determinar dónde se establecieron las primeras canchas para esta emergente actividad futbolística en el contexto urbano de Valparaíso a finales del siglo XIX e inicios del XX, antes de la construcción de la primera infraestructura mayor realizada con motivo del Campeonato Sudamericano en 1920. Para efectos de determinar las respectivas localizaciones se recurrió a la revisión de fuentes escritas, gráficas y cartográficas, las cuales pudieran establecer con certeza las ubicaciones buscadas, para luego, a través de estos descubrimientos, revisar cómo fue el panorama del origen y primer desarrollo del lugar del fútbol en la extensión urbana de Valparaíso y sus alrededores.

Ramiro Cabello,1 Gonzalo Bueno-Serrano,1 Alberto Hernando Arteche,1 José Miguel Villacampa,2 Carlos Castilla,3 Carlos Carnero,3 María Garranzo Garcia-Ibarrola,1 Carmen Gonzalez Enguita1 1Department Urology, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain; 2Department Otorhinolaryngology, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain; 3Experimental Surgery Department, Hospital Universitario Fundación Jiménez Díaz, Madrid, SpainCorrespondence: Ramiro Cabello, Email rcabello@quironsalud.esIntroduction: Learning laparoscopy (LAP) is challenging and requires different skills to conventional open surgery. There is a recognized need for a standardized laparoscopic training framework within urology to overcome these difficulties and to shift learning curve from patient to skills laboratory. Simulation-based training has been widely commented, but implementation in real day practice is lacking. We present our “LAP training program for residents”.Material: Between 2017 and 2022, 11 residents participated in our self-designed program: Theoretical: (Moodle platform) basic knowledge and multimedia content for initiation into LAP. Evaluated through online exam. Practical: exercises for LAP skills acquisition were proposed and encouraged residents’ practice in a box trainer available and experimental surgery sessions on a porcine model. On-site E-BLUS (European Basic Laparoscopic Urologic Skills) examination was performed annually. Feedback was obtained through an anonymous online survey.Results: All residents positively evaluated the program. Theoretical: 82% passed the online exam. The most valued topics: LAP in special clinical situations, complications, instruments, and configuration of the operating room (OR). Practical: all residents increased dry-lab box practices. A total of 23 experimental surgical sessions were carried out. For 64%, simulation in the experimental OR was a necessary complement to achieve laparoscopic skills and allowed them to feel more confident. Forty-five percent considered it essential to improve their surgical technique. E-BLUS evaluation was valued as a means to achieve dexterity and safer surgery by 90%. Reduction in time and errors were observed through time, although only 2 passed the E-BLUS.Conclusion: Our program for learning LAP includes the acquisition of knowledge, training of basic skills and surgical technique in a safe environment, as well as an objective evaluation. Encouraged practice of basic skills and surgical technique simulation and improved objective evaluation. It is structured, reproducible, systematic and has been positively valued, although it requires commitment for success.Keywords: training, laparoscopy, resident, urology

RESUMO Objetivo: Avaliar a prevalência de miopia em crianças de escolas públicas da Região Metropolitana de Porto Alegre (RS, Brasil). Métodos: Estudo transversal prospectivo, com amostra de 330 estudantes de escolas públicas da Região Metropolitana de Porto Alegre entre 5 e 20 anos de idade. Os escolares foram submetidos à avaliação oftalmológica completa, incluindo acuidade visual com e sem correção, autorrefração dinâmica e estática, refração subjetiva dinâmica e estática sob cicloplegia e medida do diâmetro axial. Um questionário sobre tempo de uso de telas diário foi aplicado. Os desfechos foram prevalência de miopia, alta miopia e baixa miopia. O teste do qui-quadrado de Pearson foi utilizado para avaliar a relação da prevalência com a variável contemplada no questionário. Resultados: A prevalência de miopia foi de 17,4% (IC95% 13,8-21,7%). Baixa e alta miopia corresponderam a 15,2% (IC95% 11,9-19,3%) e 2,1% (IC95% 1,1-4,1%), respectivamente. Conclusão: Essa é a maior prevalência de miopia sob cicloplegia encontrada no Brasil até a presente data. Outros estudos para entender a prevalência e a evolução da ametropia no país são necessários.

Resumo Este estudo analisou o percurso de quatro famílias, destituídas do poder familiar, pelo Sistema de Garantia de Direitos da Criança e do Adolescente no Brasil. A análise do discurso de orientação psicanalítica foi empregada no corpus de informações de cada caso, compreendido por documentos relativos ao acompanhamento dos casos e entrevistas, realizadas com familiares e agentes institucionais. Os resultados apontam para formações discursivas que naturalizam ações judiciais punitivas de suspensão ou destituição do poder familiar, aplicadas hegemonicamente às famílias pobres, nas quais as mulheres são as principais culpabilizadas pelas falhas na gestão de cuidados. Verifica-se, também, a descontinuidade do acompanhamento, retomado quando há repetição da aplicação dessas medidas protetivas, assumindo a característica sintomática de falha. A escuta dos atores desses processos surge como uma estratégia de retificação subjetiva, ultrapassando práticas prescritivas e normativas, ratificadoras da exclusão e de criminalização da pobreza, particularmente das famílias negras.

Background The scale-up of parenting programmes to support early childhood development (ECD) is poorly understood. Little is known about how and when early interventions are most effective. Sustainability of ECD programming requires a better understanding of the mechanisms of real-world interventions. We examined the effects on caregiving practices of Primeira Infância Melhor (PIM), a state-wide home-visiting programme in Brazil.Methods This propensity score matched, longitudinal, quasiexperimental study uses data from the 2015 Pelotas Birth Cohort. We matched children who received PIM at any age with other cohort children on 25 key covariates. Sensitivity, guidance and responsiveness were assessed using video-recorded play tasks. Coerciveness and the parent–child relationship were assessed using the Parenting and Family Adjustment Scales. All parenting outcomes were examined at age 4 years. Separate moderation analyses were conducted for each effect modifier: family income, child age and duration of participation.Results Out of 4275 children in the cohort, 797 were enrolled in PIM up to age 4 years. 3018 children (70.6%) were included in the analytic sample, of whom 587 received PIM and 2431 were potential controls. We found a positive effect of PIM on responsiveness (β=0.08, 95% CIs 0.002 to 0.16) and sensitivity (β=0.10, 95% CIs 0.02 to 0.19). No effect was found for any secondary outcomes. Moderation analyses revealed a stronger positive effect on sensitivity for low-income parents (β=0.18, 95% CIs 0.03 to 0.34).Conclusion A state-wide, home-visiting programme in Brazil improved aspects of responsive caregiving. Effects were more pronounced for low-income families, suggesting benefits of purposeful targeting.

Existem casos em que a permanência da criança ou adolescente em sua família de origem viola seus direitos, expondo-os a riscos físicos e psíquicos. Nesses contextos podem ser aplicadas medidas de proteção como o afastamento da família e, em último caso, a destituição do poder familiar. O objetivo deste artigo foi realizar uma revisão integrativa da literatura sobre estudos que descrevem e analisam práticas avaliativas e interventivas em casos de destituição do poder familiar. O levantamento de artigos foi realizado em seis bases de dados: Scielo, Lilacs, Pepsic, PsycINFO, Web of Science e Scopus. Foram incluídos para análise nove estudos de acordo com os critérios de elegibilidade. Constatou-se que os estudos foram desenvolvidos principalmente no Brasil e nos Estados Unidos (EUA). Os cinco estudos nacionais analisados, predominantemente qualitativos, destacam práticas interventivas genéricas, associadas a relatos de experiências profissionais. Os demais estudos, de natureza quantitativa, apresentam maior variedade de práticas avaliativas e interventivas, mas que não são extensíveis à rede de bem-estar infantil. Verificou-se que a escassez de estudos sobre a temática denota um campo aberto para investigações e, em uma concepção crítica, potencial tendência a naturalizar a suspensão dos direitos parentais, principalmente em casos que envolvem famílias pobres.