A Pediatric Telecardiology Service 20 years on-An exploratory study

Background: Telemedicine services are promoting more access to healthcare. Portugal was an early adopter of telemedicine to overcome both its geological barriers and the shortage of healthcare professionals. The Pediatric Cardiology Service (PCS) at Coimbra University Hospital Centre (CHUC) has been using telemedicine to increase access and coverage since 1998. Their Pediatric Telecardiology Service has been daily connecting CHUC with 13 other Portuguese national hospitals, and regularly connecting with Portuguese-speaking African countries, through a teleconsultation platform. Methods: This study aims at exploring the Pediatric Telecardiology Service's evolution, through a comprehensive assessment of the PCS's development, evolution and impact in public health, to better understand the critical factors for implementation and sustainability of telemedicine, in the context of healthcare services digitalization. A case study was performed, with cost-benefit, critical factors and organizational culture assessment. Finally, the Kingdon's framework helped to understand the implementation and scale-up process and the role of policy-making. Results: With the total of 32,685 out-patient teleconsultations, growing steadily from 1998 to 2016, the Pediatric Telecardiology Service has reached national and international recognition, being a pioneer and an active promotor of telemedicine. This telemedicine service has saved significant resources, about 1.1 million euros for the health system (e.g. in administrative and logistic costs) and approximately 419 euros per patient (considering an average of 1777 patients per year). PCS presents a dominant "Clan" culture. The Momentum's critical factors for telemedicine service implementation enabled us to understand how barriers were overcome (e.g. political forces). Willingness, perseverance and teamwork, allied with partnership with key stakeholders, were the foundation for professionals' engagement and service networking development. Its positive results, new regulations and the increasing support from the hospital board, set up a window of opportunity to establish a sustainable telemedicine service. Conclusion: The Pediatric Telecardiology Service enables real-time communication and the sharing of clinical information, overcoming many barriers (from geographical ones to shortage of healthcare professionals), improving access to specialized care both in Portugal and Africa. Motivation and teamwork, and perseverance, were key for the Pediatric Telecardiology Service to tackle the window of opportunity which created conditions for sustainability.publishersversionpublishe

Challenges of telemedicine in Angola to support the health municipalization

Introduction – Telemedicine, as a tool for distance health care delivery, enables to overcome the existing barriers and limitations to health systems. It may be the way to answer the challenge of health globalization and universal access to health Since 2003, the RAFT Telemedicine network, has been expanding and capturing more followers. RAFT already counts on the participation of more than one thousand health professionals from African countries, allowing them to communicate within the extensive professionals' network they constitute. Objective – The main goal was to expand the telemedicine network in Angola, to carry on a health municipalisation strategy, with the promotion of health professionals' participation. Methods – During last year, the network was promoted among health professionals in Portugal and PALOP territories, in order to enlarge the Portuguese speaking collaboration network, in teleconsultation, teletraining and tele-education, giving support to local professionals, and allowing to collect an increasing number of RAFT users. Results – The main results of this project's stage are the following: benchmarking to support the Telemedicine's policy-paper; the promotion of the debate among experts on the subject of telemedicine's possible contribution to primary healthcare (PHC) delivery; the project divulgation by the stakeholders; carrying out and transmission of several teletraining sessions on the Dudal platform. Conclusion – Throughout time, it has been possible to gather an increasing number of participants (physicians and other health professionals) to support and dynamize the telemedicine network. In future, there should be ensured continuity to this work, focusing particularly on the promotion of the teleconsultation platform

a review and modified Delphi technique

Funding Information: This project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement No. 101018317. The present publication was also funded by Fundação Ciência e Tecnologia, IP national support through CHRC (UIDP/04923/2020). Funding Information: All authors would like to acknowledge the EU, H2020 project PHIRI. MSP, MM, MP, and LL would like to acknowledge the student Willie Bernardi for its help in extracting data for the study. MM and LL would like to acknowledge Fundação para a Ciência e a Tecnologia (FCT – MCTES) for its financial support via the project UIDB/00667/2020 and UIDP/00667/2020 (UNIDEMI). Funding Information: All authors would like to acknowledge the EU, H2020 project PHIRI. MSP, MM, MP, and LL would like to acknowledge the student Willie Bernardi for its help in extracting data for the study. MM and LL would like to acknowledge Fundação para a Ciência e a Tecnologia (FCT – MCTES) for its financial support via the project UIDB/00667/2020 and UIDP/00667/2020 (UNIDEMI). Publisher Copyright: Copyright © 2023 Paulo, Peyroteo, Maia, Pries, Habl and Lapão.Introduction: The emergence of the COVID-19 pandemic in early 2020 led countries to implement a set of public health and social measures (PHSMs) attempting to contain the spread of the SARS-CoV-2 virus. This study aims to review the existing literature regarding key results of the PHSMs that were implemented, and to identify the PHSMs considered to have most impacted the epidemiological curve of COVID-19 over the last years during different stages of the pandemic. Methods: The PHSM under study were selected from the Oxford COVID-19 Government Response Tracker (OxCGRT), supplemented by topics presented during the Rapid Exchange Forum (REF) meetings in the scope of the Population Health Information Research Infrastructure (PHIRI) project (H2020). The evidence- based review was conducted using Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines to identify which reviews have already been published about each PHSMs and their results. In addition, two modified Delphi panel surveys were conducted among subject matter experts from 30 European countries to uphold the results found. Results: There were 3,212 studies retrieved from PubMed, 162 full texts assessed for eligibility and 35 included in this PHSMs summary. The measures with clearest evidence on their positive impact from the evidence-based review include social distancing, hygiene measures, mask measures and testing policies. From the modified Delphi panel, the PHSMs considered most significant in the four periods analyzed were case isolation at home, face coverings, testing policy, and social distancing, respectively. Discussion: The evidence found has significant implications for both researchers and policymakers. The study of PHSMs’ impact on COVID-19 illustrates lessons learned for future pan- and epidemics, serving as a contribution to the health systems resilience discussion. These lessons, drawn from both the available scientific evidence and the perspectives of relevant subject matter experts, should also be considered in educational and preparedness programs and activities in the public health space.publishersversionpublishe

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries from 5 continents. Demographic data, clinical features, immunological parameters, treatment, and outcome were recorded. The median age of the 274 patients was 22 years (range, 1-71 years); 98% of them had CMC, with a median age at onset of 1 year (range, 0-24 years). Patients often displayed bacterial (74%) infections, mostly because of Staphylococcus aureus (36%), including the respiratory tract and the skin in 47% and 28% of patients, respectively, and viral (38%) infections, mostly because of Herpesviridae (83%) and affecting the skin in 32% of patients. Invasive fungal infections (10%), mostly caused by Candida spp. (29%), and mycobacterial disease (6%) caused by Mycobacterium tuberculosis, environmental mycobacteria, or Bacille Calmette-Guérin vaccines were less common. Many patients had autoimmune manifestations (37%), including hypothyroidism (22%), type 1 diabetes (4%), blood cytopenia (4%), and systemic lupus erythematosus (2%). Invasive infections (25%), cerebral aneurysms (6%), and cancers (6%) were the strongest predictors of poor outcome. CMC persisted in 39% of the 202 patients receiving prolonged antifungal treatment. Circulating interleukin-17A-producing T-cell count was low for most (82%) but not all of the patients tested. STAT1 GOF mutations underlie AD CMC, as well as an unexpectedly wide range of other clinical features, including not only a variety of infectious and autoimmune diseases, but also cerebral aneurysms and carcinomas that confer a poor prognosis

Common variants of the <i>BRCA1</i> wild-type allele modify the risk of breast cancer in <i>BRCA1</i> mutation carriers

Mutations in the &lt;i&gt;BRCA1&lt;/i&gt; gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The &lt;i&gt;BRCA1&lt;/i&gt; protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that alter the expression and/or function of &lt;i&gt;BRCA1&lt;/i&gt; carried on the wild-type (non-mutated) copy of the &lt;i&gt;BRCA1&lt;/i&gt; gene would modify the risk of breast cancer in carriers of &lt;i&gt;BRCA1&lt;/i&gt; mutations. A total of 9874 &lt;i&gt;BRCA1&lt;/i&gt; mutation carriers were available in the Consortium of Investigators of Modifiers of &lt;i&gt;BRCA1/2&lt;/i&gt; (CIMBA) for haplotype analyses of &lt;i&gt;BRCA1&lt;/i&gt;. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of &lt;i&gt;BRCA1&lt;/i&gt; were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77–0.95, &lt;i&gt;P&lt;/i&gt; = 0.003). Promoter &lt;i&gt;in vitro&lt;/i&gt; assays of the major &lt;i&gt;BRCA1&lt;/i&gt; haplotypes showed that common polymorphisms in the regulatory region alter its activity and that this effect may be attributed to the differential binding affinity of nuclear proteins. In conclusion, variants on the wild-type copy of &lt;i&gt;BRCA1&lt;/i&gt; modify risk of breast cancer among carriers of &lt;i&gt;BRCA1&lt;/i&gt; mutations, possibly by altering the efficiency of &lt;i&gt;BRCA1&lt;/i&gt; transcription

Characteristics and outcomes of an international cohort of 600 000 hospitalized patients with COVID-19

Background: We describe demographic features, treatments and clinical outcomes in the International Severe Acute Respiratory and emerging Infection Consortium (ISARIC) COVID-19 cohort, one of the world's largest international, standardized data sets concerning hospitalized patients. Methods: The data set analysed includes COVID-19 patients hospitalized between January 2020 and January 2022 in 52 countries. We investigated how symptoms on admission, co-morbidities, risk factors and treatments varied by age, sex and other characteristics. We used Cox regression models to investigate associations between demographics, symptoms, co-morbidities and other factors with risk of death, admission to an intensive care unit (ICU) and invasive mechanical ventilation (IMV). Results: Data were available for 689 572 patients with laboratory-confirmed (91.1%) or clinically diagnosed (8.9%) SARS-CoV-2 infection from 52 countries. Age [adjusted hazard ratio per 10 years 1.49 (95% CI 1.48, 1.49)] and male sex [1.23 (1.21, 1.24)] were associated with a higher risk of death. Rates of admission to an ICU and use of IMV increased with age up to age 60&nbsp;years then dropped. Symptoms, co-morbidities and treatments varied by age and had varied associations with clinical outcomes. The case-fatality ratio varied by country partly due to differences in the clinical characteristics of recruited patients and was on average 21.5%. Conclusions: Age was the strongest determinant of risk of death, with a ∼30-fold difference between the oldest and youngest groups; each of the co-morbidities included was associated with up to an almost 2-fold increase in risk. Smoking and obesity were also associated with a higher risk of death.&nbsp;The size of our international database and the standardized data collection method make this study a comprehensive international description of COVID-19 clinical features. Our findings may inform strategies that involve prioritization of patients hospitalized with COVID-19 who have a higher risk of death

ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

The International Severe Acute Respiratory and Emerging Infection Consortium (ISARIC) COVID-19 dataset is one of the largest international databases of prospectively collected clinical data on people hospitalized with COVID-19. This dataset was compiled during the COVID-19 pandemic by a network of hospitals that collect data using the ISARIC-World Health Organization Clinical Characterization Protocol and data tools. The database includes data from more than 705,000 patients, collected in more than 60 countries and 1,500 centres worldwide. Patient data are available from acute hospital admissions with COVID-19 and outpatient follow-ups. The data include signs and symptoms, pre-existing comorbidities, vital signs, chronic and acute treatments, complications, dates of hospitalization and discharge, mortality, viral strains, vaccination status, and other data. Here, we present the dataset characteristics, explain its architecture and how to gain access, and provide tools to facilitate its use