ABSTRACT
BACKGROUND: Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology have established guidelines for standardized variant interpretation. In this manuscript, we present the updated Hospital Israelita Albert Einstein Standards for Constitutional Sequence Variants Classification, incorporating modifications from leading genetics societies and the ClinGen initiative. RESULTS: First, we standardized the scientific publications, documents, and other reliable sources for this document to ensure an evidence-based approach. Next, we defined the databases that would provide variant information for the classification process, established the terminology for molecular findings, set standards for disease-gene associations, and determined the nomenclature for classification criteria. Subsequently, we defined the general rules for variant classification and the Bayesian statistical reasoning principles to enhance this process. We also defined bioinformatics standards for automated classification. Our workgroup adhered to gene-specific rules and workflows curated by the ClinGen Variant Curation Expert Panels whenever available. Additionally, a distinct set of specifications for criteria modulation was created for cancer genes, recognizing their unique characteristics. CONCLUSIONS: The development of an internal consensus and standards for constitutional sequence variant classification, specifically adapted to the Brazilian population, further contributes to the continuous refinement of variant classification practices. The aim of these efforts from the workgroup is to enhance the reliability and uniformity of variant classification.
Subject(s)
Genetic Testing , Genetic Variation , Humans , United States , Mutation , Reproducibility of Results , Bayes Theorem , Genome, HumanABSTRACT
In September 2021, the 34th Brazilian Surgical Conference hosted the "Panel: Women in Surgery" - the only session in the event solely composed of female speakers. Although gender inequities in surgery are well recognized in the international literature, the panel portrayed how distant we are from the desired equity in our country. In addition, the session emphasized the need to broaden the debate and identify the mechanisms for greater inclusion and maintenance of women in the surgical career. In this editorial, we provide a historical overview of gender disparities in the Brazilian surgical ecosystem, highlight the contributing factors to a reduced number of female surgeons, and how the structure of medical societies may influence the rise of women to leadership positions. Accordingly, we discuss the benefits of gender diversity for surgeons, patients, and institutions. Furthermore, we analyze the representation of women in the Brazilian College of Surgeons since its foundation and in the scientific sessions at the conference, demonstrating that more initiatives are required to encourage female representation in the college. Finally, we propose a series of recommendations to foster engagement and contribute to the prosperity of women surgeons in Brazil.
Subject(s)
Physicians, Women , Specialties, Surgical , Brazil , Ecosystem , Female , Gender Equity , Humans , Leadership , Societies, MedicalABSTRACT
ABSTRACT In September 2021, the 34th Brazilian Surgical Conference hosted the "Panel: Women in Surgery" - the only session in the event solely composed of female speakers. Although gender inequities in surgery are well recognized in the international literature, the panel portrayed how distant we are from the desired equity in our country. In addition, the session emphasized the need to broaden the debate and identify the mechanisms for greater inclusion and maintenance of women in the surgical career. In this editorial, we provide a historical overview of gender disparities in the Brazilian surgical ecosystem, highlight the contributing factors to a reduced number of female surgeons, and how the structure of medical societies may influence the rise of women to leadership positions. Accordingly, we discuss the benefits of gender diversity for surgeons, patients, and institutions. Furthermore, we analyze the representation of women in the Brazilian College of Surgeons since its foundation and in the scientific sessions at the conference, demonstrating that more initiatives are required to encourage female representation in the college. Finally, we propose a series of recommendations to foster engagement and contribute to the prosperity of women surgeons in Brazil.
RESUMO Em setembro de 2021, o 34º Congresso Brasileiro de Cirurgia sediou o "Painel de debates: Mulheres na Cirurgia" - o único espaço do evento composto somente por mulheres. Embora a existência de iniquidades de gênero na cirurgia seja bem reconhecida na literatura internacional, esse painel retratou como estamos distantes da almejada equidade em nosso país. Além disso, a sessão enfatizou a necessidade de ampliar o debate e identificar os mecanismos para maior inclusão e retenção das mulheres na carreira cirúrgica. Neste editorial, apresentamos panorama histórico e atual das disparidades de gênero no ecossistema cirúrgico brasileiro; destacamos os fatores que contribuem para o número reduzido de cirurgiãs e, como a estrutura das sociedades médicas influencia na ascensão de mulheres para cargos de liderança. Em seguida, discutimos os benefícios da diversidade de gênero para cirurgiões, pacientes e instituições. Ademais, analisamos a representatividade feminina no Colégio Brasileiro de Cirurgiões desde a fundação e nos espaços científicos do congresso, demonstrando que mais medidas serão necessárias para incentivar maior protagonismo feminino no colégio. Finalmente, propomos uma série de recomendações para fomentar o engajamento e contribuir para a prosperidade das cirurgiãs no Brasil.
Subject(s)
Humans , Female , Physicians, Women , Specialties, Surgical , Societies, Medical , Brazil , Ecosystem , Gender Equity , LeadershipABSTRACT
Bioinformatics is a fast-evolving research field, requiring effective educational initiatives to bring computational knowledge to Life Sciences. Since 2017, an organizing committee composed of graduate students and postdoctoral researchers from the Universidade Federal de Minas Gerais (Brazil) promotes a week-long event named Summer Course in Bioinformatics (CVBioinfo). This event aims to diffuse bioinformatic principles, news, and methods mainly focused on audiences of undergraduate students. Furthermore, as the advent of the COVID-19 global pandemic has precluded in-person events, we offered the event in online mode, using free video transmission platforms. Herein, we present and discuss the insights obtained from promoting the Online Workshop in Bioinformatics (WOB) organized in November 2020, comparing it to our experience in previous in-person editions of the same event.
ABSTRACT
Sediments may be a repository of contaminants in freshwater ecosystems. One way to assess the quality of this compartment, in terms of potentially bioavailable metals, is by the analysis of acid-volatile sulfide (AVS) and simultaneously extracted metals (SEM). In order to investigate the bioavailability, toxicity, and compartmentalization of different metals (Cd, Cr, Cu, Ni, Pb, Zn), sampling of surface sediments was performed at nine stations along the Paiva Castro reservoir (São Paulo, Brazil). The metals were analyzed using atomic absorption spectroscopy. Sediment organic matter (OM), organic carbon (OC), and grain size were also measured. The parameters pH, EH, temperature, and dissolved oxygen were determined at the sediment-water interface. Chronic and acute toxicological tests were performed with sediments from the area where water was extracted for the public water supply. Low levels of OM, associated with loss of stratification in the water column, explained the relatively low AVS values. The molar ratio ∑[SEM]-[AVS]/fOC was less than 130 mmol/kg(-1) for all the sampling stations, indicating that the metals were not bioavailable. With the exception of Cd, metal levels were in accordance with background concentrations and the threshold effect level (TEL) established by the Canadian Council of Ministers of the Environment. The ecotoxicological tests confirmed the absence of toxic effects to biota. Application of principal component analysis indicated the presence of four compartments along the reservoir: (1) a riverine zone, potentially threatened by contamination with Cd; (2) an intermediate zone; (3) a limnic area; and (4) the area where water was taken for the public water supply.
