Identification of clusters of asthma control: A preliminary analysis of the inspirers studies

This work was funded by ERDF (European Regional Development Fund) through the operations: POCI- -01-0145-FEDER-029130 (“mINSPIRERS—mHealth to measure and improve adherence to medication in chronic obstructive respiratory diseases - generalisation and evaluation of gamification, peer support and advanced image processing technologies”) co-funded by the COMPETE2020 (Programa Operacional Competitividade e Internacionalização), Portugal 2020 and by Portuguese Funds through FCT (Fundação para a Ciência e a Tecnologia).© 2020, Sociedade Portuguesa de Alergologia e Imunologia Clinica. All rights reserved. Aims: To identify distinct asthma control clusters based on Control of Allergic Rhinitis and Asthma Test (CARAT) and to compare patients’ characteristics among these clusters. Methods: Adults and adolescents (≥13 years) with persistent asthma were recruited at 29 Portuguese hospital outpatient clinics, in the context of two observational studies of the INSPIRERS project. Demographic and clinical characteristics, adherence to inhaled medication, beliefs about inhaled medication, anxiety and depression, quality of life, and asthma control (CARAT, >24 good control) were collected. Hierarchical cluster analysis was performed using CARAT total score (CARAT-T). Results: 410 patients (68% adults), with a median (percentile 25–percentile 75) age of 28 (16-46) years, were analysed. Three clusters were identified [mean CARAT-T (min-max)]: cluster 1 [27(24-30)], cluster 2 [19(14-23)] and cluster 3 [10(2-13)]. Patients in cluster 1 (34%) were characterised by better asthma control, better quality of life, higher inhaler adherence and use of a single inhaler. Patients in clusters 2 (50%) and 3 (16%) had uncontrolled asthma, lower inhaler adherence, more symptoms of anxiety and depression and more than half had at least one exacerbation in the previous year. Further-more, patients in cluster 3 were predominantly female, had more unscheduled medical visits and more anxiety symp-toms, perceived a higher necessity of their prescribed inhalers but also higher levels of concern about taking these inhalers. There were no differences in age, body mass index, lung function, smoking status, hospital admissions or specialist physician follow-up time among the three clusters. Conclusion: An unsupervised method based on CARAT--T, identified 3 clusters of patients with distinct, clinically meaningful characteristics. The cluster with better asthma control had a cut-off similar to the established in the validation study of CARAT and an additional cut-off seems to distinguish more severe disease. Further research is necessary to validate the asthma control clusters identified.publishersversionpublishe

Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazili an centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, C620, C630, E768 and S891 present a similar prevalence, some mutations have a lower prevalence in Brazil, and others are found mainly in Brazil (G533C and M918V). These results reflect the singular proportion of European, Amerindian and African ancestries in the Brazilian mosaic genome83289298CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESPFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DO RIO GRANDE DO SUL - FAPERGSSem informaçãoSem informação2006/60402-1; 2010/51547-1; 2013/01476-9; 2014/06570-6; 2009/50575-4; 2010/51546-5; 2012/21942-116/2551-0000482-

Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazilian centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, C620, C630, E768 and S891 present a similar prevalence, some mutations have a lower prevalence in Brazil, and others are found mainly in Brazil (G533C and M918V). These results reflect the singular proportion of European, Amerindian and African ancestries in the Brazilian mosaic genome

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 < 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

PREDIÇÃO E DIAGNÓSTICO DO CRESCIMENTO INTRAUTERINO RESTRITO

O termo Crescimento intrauterino restrito (CIR) refere-se ao feto que não conseguiu atingir o seu potencial de crescimento geneticamente determinado, ou seja, disfunção no crescimento que não permite ao feto atingir, em massa corporal, seu alvo genético. Estima-se a prevalência de 7 a 10% entre todas as gestações. A correta distinção entre os fetos com restrição de crescimento intrauterino, daqueles que ao nascer são considerados constitucionalmente pequenos para idade gestacional (PIG) é importante. Os fetos com diagnóstico de CIR devem ser submetidos ao protocolo de seguimento apropriado de alto risco, pois a abordagem inadequada pode concorrer com prematuridade iatrogênica e os não classificados corretamente, ou tardiamente, podem evoluir para desfecho adverso. Apresentam elevada morbimortalidade perinatal com risco de danos permanentes, e o risco de óbito intrauterino é de 5 a 10 vezes maior. Ainda não há tratamento definitivo para CIR e estratégias de manejo para gestações complicadas por CIR baseiam-se em evidências limitadas. O presente estudo observacional, transversal e analítico, tem a proposta de analisar a melhor abordagem diagnóstica dos fetos acometidos por CIR e sugerir o seguimento pré-natal adequado a depender do risco identificado no rastreio do CIR. Ao longo dos anos, muitas escolas através de diversos estudos estabeleceram definições e abordagens sobre esta condição. O estabelecimento do consenso possibilitará diagnóstico precoce e seguimento obstétrico adequado. Em 2013, foram publicados os protocolos assistenciais da Maternidade Escola da Universidade Federal do Rio de Janeiro (ME/UFRJ) que recomendam a realização do rastreio do primeiro trimestre, no qual é calculado o risco de desenvolvimento de CIR. O programa aplicado desenvolvido pela Fetal Medicine Foundation (FMF) é um algoritmo que combina fatores maternos e biofísicos, o exame ser positivo, ou seja, maior ou igual 1/150 não define o diagnóstico e sim maior probabilidade de apresentar CIR. Após o primeiro rastreio o acompanhamento ultrassonográfico realizado é o mesmo que aplicado nas gestações de risco habitual, o que torna necessário avaliar a necessidade e até mesmo, se possível,  estabelecer seguimento pré-natal diferenciado às gestantes com rastreio positivo para CIR. A amostra do estudo é composta por gestantes que realizaram os exames de rastreio do primeiro trimestre na ME/UFRJ, e a rotina ultrassonográfica do pré-natal de outubro de 2010 e julho de 2017. O trabalho propõe, através da análise de resultados de pacientes que já foram rastreadas, avaliar os resultados da ultrassonografia obstétrica com dopplerfluxometria que é realizada para avaliação morfológica entre 22 e 24 semanas, a ultrassonografia com doppler com 32 e 38 semanas,  que tem objetivo a avaliação do crescimento e bem estar fetal, e aplicar os critérios diagnósticos que emergiram do estudo Delphi para traçar o perfil das gestações com rastreio positivo e propor seguimento adequado. Conseguinte ao término da coleta os dados serão transferidos para o pacote estatístico e os resultados analisados pelo programa STATA versão 13.0.Palavras-chave: crescimento intrauterino restrito; pequeno para idade gestacional; seguimento pré-natal

O IMPACTO DO USO DA ASPIRINA NA PREVALÊNCIA DA PRÉ-ECLÂMPSIA E EM SUAS REPERCUSSÕES PERINATAIS

A pré-eclâmpsia (PE) está relacionada a altos índices de morbidade e mortalidade ao redor do mundo. Tem uma prevalência estimada em torno de 2-8% e está correlacionada com muitos casos de partos pré-termo e crescimento intrauterino restrito (CIR). Múltiplos fatores de risco podem estar presentes, sendo a história obstétrica pregressa de PE considerada um fator de alto risco, dentre outros. A fisiopatologia da PE não é totalmente compreendida e algumas teorias tentam justificar a sua ocorrência. A invasão trofoblástica anormal dos vasos uterinos, a intolerância imunológica entre os tecidos maternos e feto-placentário, a má-adaptação às alterações cardiovasculares ou inflamatórias da gravidez e anormalidades genéticas estão entre as possíveis hipóteses. Em função da morbidade causada pela PE severa diversas estratégias de prevenção são estudadas. Baixas doses de aspirina promovem redução do risco de PE em mulheres de alto risco. Se administrada precocemente, pode diminuir os casos de partos prematuros relacionados à PE e suas sequelas, além de reduzir a morbidade materna. Dentre os objetivos estão:1) Comparar a prevalência da PE e de suas principais complicações na Maternidade Escola da Universidade Federal do Rio de Janeiro (ME-UFRJ) dos anos de  2015 e 2016 com a dos anos de 2011 e 2012, 2) Contrastar a prevalência da PE nas gestantes, de acordo com o local onde foi realizado o pré-natal e com o uso da aspirina, 3) Divulgar o protocolo de prevenção da PE a partir do uso da aspirina, através de palestras/cursos dirigidos às equipes de saúde da rede básica, responsáveis pela assistência pré-natal, cumprindo assim o compromisso da instituição com a educação em saúde. Trata-se de um estudo observacional,  transversal,  descritivo e analítico. A população estudada será de gestantes admitidas na ME-UFRJ com idade gestacional no parto maior que 22 semanas, no período de 01 de janeiro de 2015 a 31 de dezembro de 2016, independente do local  e/ou da realização de pré-natal. Serão calculadas as prevalências da PE e de suas principais complicações (prematuridade, óbito fetal e recém-nascidos com baixo peso ao nascimento) nos anos de 2015 e 2016 e comparadas com as prevalências do biênio 2011/2012 pela razão das prevalências (RP) e seu intervalo de confiança (IC) 95%. Será considerada significativa se os limites do IC não alcançarem 1. Também será realizado teste de qui-quadrado comparando as proporções entre os dois períodos, considerando significativo se  p-valor < 0,05.   Palavras-chaves: pré-eclâmpsia; aspirina; prematuridade

Epidemiological and Clinical Aspects of Cutaneous and Mucosal Leishmaniases in Portugal: Retrospective Analysis of Cases Diagnosed in Public Hospitals and Reported in the Literature between 2010 and 2020

Leishmania infantum, a zoonotic vector-born parasite, is endemic in the Mediterranean region, presenting mostly as visceral (VL), but also as cutaneous (CL) and mucosal leishmaniasis (ML). This study aimed to describe the epidemiological and clinical aspects of the CL and ML cases diagnosed in mainland Portugal between 2010 and 2020. Collaboration was requested from every hospital of the Portuguese National Health System. Cases were screened through a search of diagnostic discharge codes or positive laboratory results for Leishmania infection. Simultaneously, a comprehensive literature search was performed. Descriptive statistics and hypothesis testing were performed using IBM® SPSS® Statistics. A total of 43 CL and 7 ML cases were identified, with a predominance of autochthonous cases (86%). In CL, immunosuppressed individuals constituted a significant proportion of patients (48%), and in this group, disseminated CL (22%) and simultaneous VL (54%) were common. In autochthonous cases, lesions, mostly papules/nodules (62%), were frequently observed on the head (48%). The approach to treatment was very heterogeneous. ML cases were all autochthonous, were diagnosed primarily in older immunosuppressed individuals, and were generally treated with liposomal amphotericin B. The findings suggest a need for enhanced surveillance and reporting, clinical awareness, and diagnostic capacity of these forms of leishmaniasis to mitigate underdiagnosis and improve patient outcomes. A holistic One Health approach is advocated to address the multifaceted challenges posed by leishmaniases in Portugal and beyond

EVALUATION OF USABILITY OF A NEONATAL HEALTH INFORMATION SYSTEM ACCORDING TO THE USER’S PERCEPTION

ABSTRACT Objective: To measure the level of satisfaction regarding the usability of a neonatal health information system and identify if demographic factors can influence the usability of a health information system. Methods: A cross-sectional, exploratory study was carried out with a convenience sample of 50 users of the Brazilian Neonatal Research Network. The instrument chosen for the usability evaluation was the System Usability Scale between February and March 2017. The statistical analysis of the collected variables was carried out in order to describe the sample, to quantify the level of satisfaction of the users and to identify the variables associated with the level of satisfaction. Results: The female gender represented 75% of the sample. The mean age was 52.8 years; 58% had a doctoral degree, average time of graduation was 17 years, with area of practice in medicine (neonatology), with intermediate knowledge in computer science (74%) and mean system use time of 52 months. Regarding usability, 94% rated the system as “good”, “excellent” or “better than imaginable”. The usability of the system was not associated with age, gender, education, profession, area of practice, knowledge in computer science and time of system use. Conclusion: The level of satisfaction of the computerized health system user was considered good. No demographic factors were associated with the satisfaction of the users