Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicine

Objectives: The overall aim of our research project was to develop a Next Generation Sequencing strategy to identify nuclear disease causing-mutations in patients suspicious of mitochondrial disorders but without molecular etiology.This Research Project is support by FCT (Fundação da Ciência e Tecnologia) (PTDC/DTP-PIC/2220/2014) - Genetic Defects of Mitochondrial Diseases: a Next Generation Sequencing Approach.info:eu-repo/semantics/draf

Diagnóstico das Doenças Mitocondriais por Sequenciação de Nova Geração

Introdução e objetivos: As doenças mitocondriais constituem um importante grupo de doenças metabólicas de expressão clínica heterogénea, para as quais não existe uma terapia eficaz. Estas patologias podem ser causadas por defeitos genéticos quer no genoma mitocondrial, quer no nuclear. A sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular destas doenças, uma vez que tem capacidade de gerar uma enorme quantidade de dados num curto espaço de tempo a um custo acessível. O objetivo deste estudo [Financiado pela FCT (PTDC/DTP-PIC/2220/2014) e pelo Norte 2020 (NORTE-01-0246-FEDER-000014)] é desenvolver uma estratégia de NGS para permitir o diagnóstico genético de doentes suspeitos de doenças mitocondriais.info:eu-repo/semantics/draf

Avaliação ultra-sonográfica do colo uterino entre 22 e 24 semanas de gestação : correlações com características demográficas e com a história obstétrica

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AUTOMEDICAÇÃO EM CRIANÇAS MENORES DE CINCO ANOS NO NORDESTE BRASILEIRO: ESTUDO DE BASE POPULACIONAL

Introdução: Automedicação em crianças é uma prática pouco conhecida no Nordeste do Brasil. Objetivo: Estimar a prevalênciae fatores associados à automedicação em menores de cinco anos. Métodos: Estudo transversal, de base populacional, comamostragem probabilística mínima de 960 crianças, no Maranhão. Foram entrevistadas 1.214 mães em domicílio e a automedicaçãoe as classes de medicamentos foram associadas as variáveis independentes, distribuídas em cinco níveis hierárquicos.Resultados: A automedicação ocorreu em 34,7% das crianças, sendo 10% com antibiótico/psicotrópico. Tiveram maior chancede automedicação filhos de beneficiários (OR= 1,56; IC95%=1,13-2,15), de mães que realizaram menos de cinco consultas prénataisno Sistema Único de Saúde (OR= 1,58; IC95%=1,17-2,14), sem adoecimento três meses antes à pesquisa (OR= 2,05;IC95%=1,45-2,89) e sem plano de saúde (OR= 1,25; IC95%=1,13-2,15). O uso de antibiótico/psicotrópico foi mais frequente emcrianças cujas mães realizaram consultas pré-natais no Sistema Único de Saúde (OR= 0,69; IC95%=0,50-0,95), sem histórico deconsulta médica atual (OR= 0,16; IC95%=0,08-0,33) e sem plano de saúde (OR= 3,78; IC95%=1,45-9,81). Conclusões: A prevalênciade automedicação e o uso de antibióticos e/ou psicotrópicos foi elevada. Tiveram maior chances de automedicação filhosde famílias de menor renda, que receberam benefício social, residentes em área urbana, sem plano de saúde e cujas mães fizeramcinco ou menos consultas pré-natais.Palavras-chave: Automedicação. Antibacterianos. Psicotrópicos. Criança. Sistemas de Saúde

Erratum to: The study of cardiovascular risk in adolescents – ERICA: rationale, design and sample characteristics of a national survey examining cardiovascular risk factor profile in Brazilian adolescents

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Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries