Browsing by Author "Rebelo, I."
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- Doença de Addison em idade pediátrica - um caso clínicoPublication . Franco, L.; Vieira, H.; Vieira, P.; Rebelo, I.Introdução: A insuficiência supra-renal primária de etiologia auto-imune, também designada Doença de Addison, é uma patologia rara, sobretudo em idade pediátrica. Caso clínico: Apresenta-se o caso de uma adolescente de 14 anos, internada por vómitos, diarreia e prostração de agravamento progressivo, com desidratação hiponatrémica grave associada a hipercaliemia e hipocloremia. Referia queixas de anorexia, astenia e perda ponderal com três meses de evolução. No exame objectivo apresentava-se obnubilada, mal perfundida e com ligeira hiperpigmentação cutânea e das mucosas. O estudo realizado confirmou o diagnóstico de insuficiência supra-renal primária, de etiologia auto-imune. Iniciou terapêutica com hidrocortisona e fludrocortisona, com boa evolução clínica. Discussão: A insuficiência supra-renal primária apresenta-se frequentemente de forma insidiosa, sendo os seus sintomas e sinais iniciais muitas vezes inespecíficos. A forma de apresentação aguda constitui uma verdadeira emergência médica, pelo que o grau de suspeição clínica deve ser elevado. ABSTRACT Introduction: The autoimmune primary adrenal insufficiency, also known as Addison disease, is a rare condition, especially in paediatric age. Case report: We present the case of a fourteen-year old adolescent, admitted in the sequence of vomiting, diarrhoea and progressive prostration, accompanied with severe hyponatremic dehydration, hyperkalemia and hypochloremia. She complained of anorexia, weakness and weight loss for the past three months. In the clinical examination she was obnubilated, with inadequate peripheral perfusion and slightly hyperpigmented skin and mucous membranes. The investigation confirmed the diagnosis of autoimmune primary adrenal insufficiency. She began treatment with hydrocortisone and fludrocortisone, with favourable clinical response. Discussion: The primary adrenal insufficiency often presents insidiously, with nonspecific signs and symptoms. Its acute presentation is a true medical emergency, so the degree of clinical suspicion should be high.
- First Trimester Aneuploidy Screening Program for Preeclampsia Prediction in a Portuguese Obstetric PopulationPublication . Teixeira, C.; Tejera, E.; Martins, H.; Pereira, A.; Costa-Pereira, A:; Rebelo, I.Objective. To evaluate the performance of a first trimester aneuploidy screening program for preeclampsia (PE) prediction in a Portuguese obstetric population, when performed under routine clinical conditions. Materials and Methods. Retrospective cohort study of 5672 pregnant women who underwent routine first trimester aneuploidy screening in a Portuguese university hospital from January 2009 to June 2013. Logistic regression-based predictive models were developed for prediction of PE based on maternal characteristics, crown-rump length (CRL), nuchal translucency thickness (NT), and maternal serum levels of pregnancy-associated plasma protein-A (PAPP-A) and free beta-subunit of human chorionic gonadotropin (free β-hCG). Results. At a false-positive rate of 5/10%, the detection rate for early-onset (EO-PE) and late-onset (LO-PE) PE was 31.4/45.7% and 29.5/35.2%, respectively. Although both forms of PE were associated with decreased PAPP-A, logistic regression analysis revealed significant contributions from maternal factors, free β-hCG, CRL, and NT, but not PAPP-A, for prediction of PE. Conclusion. Our findings support that both clinical forms of EO-PE and LO-PE can be predicted using a combination of maternal history and biomarkers assessed at first trimester aneuploidy screening. However, detection rates were modest, suggesting that models need to be improved with additional markers not included in the current aneuploidy screening programs.