10 documents found, page 1 of 1
Profiling Persistent Asthma Phenotypes in Adolescents: A Longitudinal Diagnosti...
Amaral, Rita; Jácome, Cristina; Almeida, Rute; Pereira, Ana Margarida; Alves-Correia, Magna; Mendes, Sandra; Rodrigues, José Carlos CidraisWe aimed to identify persistent asthma phenotypes among adolescents and to evaluate longitudinally asthma-related outcomes across phenotypes. Adolescents (13-17 years) from the prospective, observational, and multicenter INSPIRERS studies, conducted in Portugal and Spain, were included (n = 162). Latent class analysis was applied to demographic, environmental, and clinical variables, collected at a baseline med...
Profiling Persistent Asthma Phenotypes in Adolescents: A Longitudinal Diagnosti...
Amaral, Rita; Jácome, Cristina; Almeida, Rute; Pereira, Ana Margarida; Alves-Correia, Magna; Mendes, Sandra; Rodrigues, José Carlos CidraisWe aimed to identify persistent asthma phenotypes among adolescents and to evaluate longitudinally asthma-related outcomes across phenotypes. Adolescents (13-17 years) from the prospective, observational, and multicenter INSPIRERS studies, conducted in Portugal and Spain, were included (n = 162). Latent class analysis was applied to demographic, environmental, and clinical variables, collected at a baseline med...
Feasibility and acceptability of an asthma app to monitor medication adherence:...
Jácome, Cristina; Almeida, Rute; Pereira, Ana Margarida; Amaral, Rita; Mendes, Sandra; Alves-Correia, Magna; Vidal, Carmen; Freire, Sara LópezPoor medication adherence is a major challenge in asthma, and objective assessment of inhaler adherence is needed. The InspirerMundi app aims to monitor adherence while providing a positive experience through gamification and social support. This study aimed to evaluate the feasibility and acceptability of the InspirerMundi app to monitor medication adherence in adolescents and adults with persistent asthma (tr...
Recurrent Meningococcal Disease: An Alert Sign
Pimenta, Joana; Reis, Sofia; Laranjo, Gabriela; Marques, Laura; Cálix, Maria JoséRecurrent meningococcal disease is a red flag for immune deficits with increased susceptibility for Neisseria meningitidis infections. Meningococcal disease still causes high morbidity and mortality throughout the world, despite the advances in understanding its pathophysiology and implementing effective treatment. Recurrent meningococcal disease mandates the exclusion of complement deficiencies. The authors re...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, Joaquim; Oliveira, GuiomarBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, JoaquimHigh resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 3...
Genomic imbalances defining novel intellectual disability associated loci
Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; Sá, Joaquim; Oliveira, GuiomarBackground: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...
Alcoolismo na adolescência: a realidade de um Serviço de Pediatria
Aires, Sofia; Neves, Sérgio; Cálix, Maria José; Figueiredo, Cecília; Silveira, AlziraIntrodução: O álcool é a droga de abuso mais consumida entre os adolescentes, levando a acidentes, comportamentos de risco, problemas escolares e familiares e dependência. Objetivos: Caracterizar o perfil e o padrão de consumo de álcool dos adolescentes admitidos por intoxicação alcoólica no serviço de urgência pediátrico do Centro Hospitalar Tondela-Viseu. Métodos: Estudo retrospetivo descritivo dos casos de a...
Anorexia Nervosa: A Realidade do Internamento de uma Unidade de Adolescentes
Aires, Sofia; Oliveira, Alexandra; Monteiro, Georgina; Cálix, Maria José; Santos, Elisabete; Laranjo, Gabriela; Faria, Cristina; Ferreira, HélderIntrodução: A anorexia nervosa é uma doença psiquiátrica desafiante para todos os profissionais de saúde, adolescentes e famílias. Caracteriza-se por distorção da percepção da imagem corporal, medo intenso de ganhar peso e perda ponderal, associando-se a inúmeras complicações psicológicas e orgânicas. O objetivo deste trabalho foi caracterizar os internamentos por anorexia nervosa na unidade de adolescentes de ...
Alcoolismo na adolescência: a realidade de um Serviço de Pediatria
Aires, Sofia; Neves, sérgio; Cálix, Maria José; Figueiredo, Cecília; Silveira, AlziraIntrodução: O álcool é a droga de abuso mais consumida entre os adolescentes, levando a acidentes, comportamentos de risco, problemas escolares e familiares e dependência. Objetivos: Caracterizar o perfil e o padrão de consumo de álcool dos adolescentes admitidos por intoxicação alcoólica no serviço de urgência pediátrico do Centro Hospitalar Tondela- -Viseu. Métodos: Estudo retrospetivo descritivo dos casos de...