Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation

BACKGROUND: Potential underlying genetic variations of pectus excavatum (PE) are quite rare. Only one-fifth of PE cases are identified in the first decade of life and thus are of congenital origin. The objective of this study is to test if early-onset PE is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence. MATERIALS AND METHODS:  Children younger than 11 years who presented with PE to the outpatient clinic of the Department of Pediatric Surgery at our center between 2014 and 2020 were screened by two clinical geneticists separately. Molecular analysis was performed based on the differential diagnosis. Data of all young PE patients who already had been referred for genetic counseling were analyzed retrospectively. RESULTS:  Pathogenic genetic variations were found in 8 of the 18 participants (44%): 3 syndromic disorders (Catel-Manzke syndrome and two Noonan syndromes), 3 chromosomal disorders (16p13.11 microduplication syndrome, 22q11.21 microduplication syndrome, and genetic gain at 1q44), 1 connective tissue disease (Loeys-Dietz syndrome), and 1 neuromuscular disorder (pathogenic variation in BICD2 gene).CONCLUSION:  Early-onset PE is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence. Referral for genetic counseling should therefore be considered. TRIAL REGISTRATION:  NCT05443113.</p

COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

Background: The ISARIC prospective multinational observational study is the largest cohort of hospitalized patients with COVID-19. We present relationships of age, sex, and nationality to presenting symptoms. Methods: International, prospective observational study of 60 109 hospitalized symptomatic patients with laboratory-confirmed COVID-19 recruited from 43 countries between 30 January and 3 August 2020. Logistic regression was performed to evaluate relationships of age and sex to published COVID-19 case definitions and the most commonly reported symptoms. Results: ‘Typical’ symptoms of fever (69%), cough (68%) and shortness of breath (66%) were the most commonly reported. 92% of patients experienced at least one of these. Prevalence of typical symptoms was greatest in 30- to 60-year-olds (respectively 80, 79, 69%; at least one 95%). They were reported less frequently in children (≤ 18 years: 69, 48, 23; 85%), older adults (≥ 70 years: 61, 62, 65; 90%), and women (66, 66, 64; 90%; vs. men 71, 70, 67; 93%, each P &lt; 0.001). The most common atypical presentations under 60 years of age were nausea and vomiting and abdominal pain, and over 60 years was confusion. Regression models showed significant differences in symptoms with sex, age and country. Interpretation: This international collaboration has allowed us to report reliable symptom data from the largest cohort of patients admitted to hospital with COVID-19. Adults over 60 and children admitted to hospital with COVID-19 are less likely to present with typical symptoms. Nausea and vomiting are common atypical presentations under 30 years. Confusion is a frequent atypical presentation of COVID-19 in adults over 60 years. Women are less likely to experience typical symptoms than men

Discutindo a educação ambiental no cotidiano escolar: desenvolvimento de projetos na escola formação inicial e continuada de professores

A presente pesquisa buscou discutir como a Educação Ambiental (EA) vem sendo trabalhada, no Ensino Fundamental e como os docentes desta escola compreendem e vem inserindo a EA no cotidiano escolar., em uma escola estadual do município de Tangará da Serra/MT, Brasil. Para tanto, realizou-se entrevistas com os professores que fazem parte de um projeto interdisciplinar de EA na escola pesquisada. Verificou-se que o projeto da escola não vem conseguindo alcançar os objetivos propostos por: desconhecimento do mesmo, pelos professores; formação deficiente dos professores, não entendimento da EA como processo de ensino-aprendizagem, falta de recursos didáticos, planejamento inadequado das atividades. A partir dessa constatação, procurou-se debater a impossibilidade de tratar do tema fora do trabalho interdisciplinar, bem como, e principalmente, a importância de um estudo mais aprofundado de EA, vinculando teoria e prática, tanto na formação docente, como em projetos escolares, a fim de fugir do tradicional vínculo “EA e ecologia, lixo e horta”.Facultad de Humanidades y Ciencias de la Educació

Using Social Media for Citizen Participation: Contexts, Empowerment, and Inclusion

Social media have been increasingly used by governments and planning professionals to gain public opinions, distribute information, and support participation in planning practices. Nevertheless, few studies have been conducted to understand the influence of local contexts and the extent to which social media can enhance citizen power and inclusion. This study investigates the role of social media in citizen participation by taking case studies in the Netherlands. It adopts a mixed methods approach that combines interviews, web scraping, and content analysis to understand the characteristics of social media participation. There are several key findings. First, support policies and a high level of social media penetration rate are preconditions for more inclusive participation. Second, social media enhance social inclusion by engaging many participants, who may not be able to participate via traditional methods. Third, they facilitate interactions and different levels of citizen power, though the government still plays a leading role within top-down approaches. Finally, they improve the effectiveness of participation regarding transparency, accessibility, and workable solutions. However, there are several potential political and social bias associated with social media technology. The combination of online and offline participation methods is properly necessary to engage different groups in the planning process

Using Social Media for Citizen Participation: Contexts, Empowerment, and Inclusion

Social media have been increasingly used by governments and planning professionals to gain public opinions, distribute information, and support participation in planning practices. Nev-ertheless, few studies have been conducted to understand the influence of local contexts and the extent to which social media can enhance citizen power and inclusion. This study investigates the role of social media in citizen participation by taking case studies in the Netherlands. It adopts a mixed methods approach that combines interviews, web scraping, and content analysis to understand the characteristics of social media participation. There are several key findings. First, support policies and a high level of social media penetration rate are preconditions for more inclusive par-ticipation. Second, social media enhance social inclusion by engaging many participants, who may not be able to participate via traditional methods. Third, they facilitate interactions and different levels of citizen power, though the government still plays a leading role within top‐down ap-proaches. Finally, they improve the effectiveness of participation regarding transparency, accessi-bility, and workable solutions. However, there are several potential political and social bias associated with social media technology. The combination of online and offline participation methods is properly necessary to engage different groups in the planning process

Using Social Media for Citizen Participation: Contexts, Empowerment, and Inclusion

Social media have been increasingly used by governments and planning professionals to gain public opinions, distribute information, and support participation in planning practices. Nev-ertheless, few studies have been conducted to understand the influence of local contexts and the extent to which social media can enhance citizen power and inclusion. This study investigates the role of social media in citizen participation by taking case studies in the Netherlands. It adopts a mixed methods approach that combines interviews, web scraping, and content analysis to understand the characteristics of social media participation. There are several key findings. First, support policies and a high level of social media penetration rate are preconditions for more inclusive par-ticipation. Second, social media enhance social inclusion by engaging many participants, who may not be able to participate via traditional methods. Third, they facilitate interactions and different levels of citizen power, though the government still plays a leading role within top‐down ap-proaches. Finally, they improve the effectiveness of participation regarding transparency, accessi-bility, and workable solutions. However, there are several potential political and social bias associated with social media technology. The combination of online and offline participation methods is properly necessary to engage different groups in the planning process

New 1/500.000 scale GIS-based geological and mineral resources maps for Bas-Congo province

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The value of open-source clinical science in pandemic response: lessons from ISARIC

International audienc