7 documents found, page 1 of 1
Fast-track referral for health interventions during pregnancy: study protocol o...
Barros, H; Baia, I; Monjardino, T; Pimenta, P; Alfredo, A; Sorokina, A; Domingues, RIntroduction Low birth weight (LBW) is associated with a wide range of short-term and long-term consequences and is related to maternal psychosocial and behavioural determinants. The objective of this study is to estimate the effect of implementing fast-track referral for early intervention on psychosocial and behavioural risk factors—smoking, alcohol consumption, depression and physical violence—in reducing th...
Atypical Bartonellosis in Children: What do We Know?
Lemos, AP; Domingues, R; Gouveia, C; Sousa, R; Brito, MJAim: To characterise Bartonella infections in a paediatric population requiring hospital admission and review its treatment. Methods: Longitudinal observational retrospective data analysis of children and adolescents admitted with Bartonella infection at a paediatric tertiary hospital from 2010 to 2019. Results: We identified 16 cases of bartonellosis, with a mean age of 8.0 ± 4.5 years old, no sex predominance...
Lemierre Syndrome in a Teenager Presenting as Pulmonary Septic Embolism
Domingues, R; Neves, JF; Candeias, F; Kjöllerström, P; Brito, MJLemierre syndrome is easily missed and may be more common than generally believed. Usually a complication of a deep neck abscess, it can present suddenly with shortness of breath and hypoxemia. Accurate diagnosis and orientation are mandatory for the treatment of an otherwise potentially life-threatening disease. We describe a case of an adolescent with Lemierre syndrome and septic pulmonary embolism.
Primary Pulmonary Tumor in an Adolescent
Rodrigues, L; Domingues, R; Amaral, D; Cavaco, JPrimary lung tumors in the pediatric age group are rare, histologically diverse and have different therapeutic approaches. The inflammatory myofibroblastic tumor of the lung accounts for 0.04% - 1.2% of all lung tumors, is more common in children and young adults and its etiology is unknown. The diagnosis is difficult as clinical and radiological findings are highly variable. We report a case of a 15-year-old a...
Pregnancy and Breastfeeding During COVID-19 Pandemic: A Systematic Review of Pu...
Rodrigues, C; Baía, I; Domingues, R; Barros, HBackground: The COVID-19 pandemic is an emerging concern regarding the potential adverse effects during pregnancy. This study reviews knowledge on the impact of COVID-19 on pregnancy and describes the outcome of published cases of pregnant women diagnosed with COVID-19. Methods: Searches were conducted in PubMed®, Scopus®, Web of Science®, and MedRxiv® up to 26th June 2020, using PRISMA standards, to identify o...
Identification of de Novo Germline Mutations in the HRPT2 Gene in Two Apparentl...
Cavaco, B; Santos, R; Félix, A; Carvalho, D; Lopes, JM; Domingues, R; Sirgado, M; Rei, N; Fonseca, F; Santos, J; Sobrinho, L; Leite, VThe diagnosis of parathyroid carcinomas is often difficult. HRPT2 mutations have been identified in familial [hyperparathyroidism-jaw tumor (HPT-JT) syndrome] and sporadic parathyroid carcinomas, supporting that HRPT2 mutations may confer a malignant potential to parathyroid tumors. In this study, we report the clinical, histopathological, and genetic investigation of two unrelated cases, whom had apparently sp...
Mutational Analysis of Portuguese Families with Multiple Endocrine Neoplasia Ty...
Cavaco, B; Domingues, R; Bacelar, MC; Cardoso, H; Barros, L; Gomes, L; Ruas, MMA; Agapito, A; Garrão, A; Pannett, A; Silva, JL; Sobrinho, LGOBJECTIVE: To determine the spectrum of MEN1 mutations in Portuguese kindreds, and identify mutation-carriers. PATIENTS, DESIGN AND RESULTS: Six unrelated MEN1 families were studied for MEN1 gene mutations by single-strand conformational polymorphism (SSCP) and DNA sequence analysis of the coding region and exon-intron boundaries of the MEN1 gene. These methods identified 4 different heterozygous mutations in f...