Percorrer por autor "Oliveira, A"
A mostrar 1 - 5 de 5
Resultados por página
Opções de ordenação
- Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGSPublication . Fidalgo, T; Salvado, R; Corrales, I; Pinto, SC; Borràs, N; Oliveira, A; Martinho, P; Ferreira, G; Almeida, H; Oliveira, C; Marques, D; Gonçalves, E; Diniz, MJ; Antunes, M; Tavares, A; Caetano, G; Kjöllerström, P; Maia, R; Sevivas, T; Vidal, F; Ribeiro, LThe diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The sequencing of the entire VWF coding region has not yet become a routine practice in diagnostic laboratories owing to its high costs. Nevertheless, next-generation sequencing (NGS) has emerged as an alternative to overcome this limitation. We aimed to determine the correlation of genotype and phenotype in 92 Portuguese individuals from 60 unrelated families with VWD; therefore, we directly sequenced VWF. We compared the classical Sanger sequencing approach and NGS to assess the value-added effect on the analysis of the mutation distribution in different types of VWD. Sixty-two different VWF mutations were identified, 27 of which had not been previously described. NGS detected 26 additional mutations, contributing to a broad overview of the mutant alleles present in each VWD type. Twenty-nine probands (48.3 %) had two or more mutations; in addition, mutations with pleiotropic effects were detected, and NGS allowed an appropriate classification for seven of them. Furthermore, the differential diagnosis between VWD 2B and platelet type VWD (n = 1), Bernard-Soulier syndrome and VWD 2B (n = 1), and mild haemophilia A and VWD 2N (n = 2) was possible. NGS provided an efficient laboratory workflow for analysing VWF. These findings in our cohort of Portuguese patients support the proposal that improving VWD diagnosis strategies will enhance clinical and laboratory approaches, allowing to establish the most appropriate treatment for each patient.
- Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGSPublication . Fidalgo, T; Salvado, R; Corrales, I; Pinto, SC; Borràs, N; Oliveira, A; Martinho, P; Ferreira, G; Almeida, H; Oliveira, C; Marques, D; Gonçalves, Elsa; Diniz, MJ; Antunes, M; Tavares, A; Caetano, G; Kjöllerström, P; Maia, R; Sevivas, TS; Vidal, F; Ribeiro, LThe diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The sequencing of the entire VWF coding region has not yet become a routine practice in diagnostic laboratories owing to its high costs. Nevertheless, next-generation sequencing (NGS) has emerged as an alternative to overcome this limitation. We aimed to determine the correlation of genotype and phenotype in 92 Portuguese individuals from 60 unrelated families with VWD; therefore, we directly sequenced VWF. We compared the classical Sanger sequencing approach and NGS to assess the value-added effect on the analysis of the mutation distribution in different types of VWD. Sixty-two different VWF mutations were identified, 27 of which had not been previously described. NGS detected 26 additional mutations, contributing to a broad overview of the mutant alleles present in each VWD type. Twenty-nine probands (48.3 %) had two or more mutations; in addition, mutations with pleiotropic effects were detected, and NGS allowed an appropriate classification for seven of them. Furthermore, the differential diagnosis between VWD 2B and platelet type VWD (n = 1), Bernard-Soulier syndrome and VWD 2B (n = 1), and mild haemophilia A and VWD 2N (n = 2) was possible. NGS provided an efficient laboratory workflow for analysing VWF. These findings in our cohort of Portuguese patients support the proposal that improving VWD diagnosis strategies will enhance clinical and laboratory approaches, allowing to establish the most appropriate treatment for each patient.
- Hipertiroidismo neonatal transitórioPublication . Jerónimo, M; Moinho, R; Nunes-Vicente, I; Oliveira, A; Dias, A; Mimoso, G; Dinis, I; Mirante, A; Faria, DGraves’ disease is the main cause of hyperthyroidism in women of childbearing age. It occurs by the presence of serum immunoglobulins which stimulate the thyrotropin receptor (TRAbs) and may cross the placenta. It has serious consequences when uncontrolled, leading to fetal and/or neonatal hyperthyroidism or hypothyroidism. The authors describe the case of a newborn from a mother with poorly controlled Graves’ disease during pregnancy. He had an uneventful early neonatal period but developed hyperthyroidism in the second week of life. He was treated for two days with propranolol to manage tachycardia and metimazol during 4 months, with favourable clinical and laboratory outcome. During pregnancy, it is essential to control thyroid function and TRAbs in women with Graves’ disease. Newborns should be screened for thyroid function at birth and must have a regular follow up as it allows the diagnosis of transient hyperthyroidism or hypothyroidism and its early treatment, avoiding short and long term complications. Based on this case and literature review, the authors present a proposal of protocol in infants born to mothers with Graves’ disease.
- Perinatal Neuroblastoma – A Challenge for the NeonatologistPublication . Oliveira, A; Jerónimo, M; Fonseca, M; Heitor, F; Mimoso, GO neuroblastoma é o tumor maligno mais frequente no período neonatal. O diagnóstico pré-natal tem aumentado devido à qualidade da ecografia obstétrica, que permite a deteção de formações de pequenas dimensões nas glândulas suprarrenais. Apresentam-se os casos clínicos de quatro recém‑nascidos com o diagnóstico de neuroblastoma perinatal. Dois recém-nascidos apresentaram imagens quísticas pré-natais na suprarrenal, estavam assintomáticos ao nascimento e o diagnóstico foi sugerido pela vigilância imagiológica. Outro recém-nascido não apresentava alterações nas ecografias pré-natais mas, ao nascer, era evidente distensão abdominal com massa palpável, cuja avaliação imagiológica sugeriu neuroblastoma. No quarto recém- -nascido, o diagnóstico de neuroblastoma foi evocado na gravidez. Estes últimos dois recém-nascidos faleceram após início de terapêutica imediata cirúrgica e/ou quimioterapia. As imagens quísticas da suprarrenal no período perinatal constituem um desafio diagnóstico, devendo ser sempre considerada a hipótese de neuroblastoma, mesmo quando o recém-nascido está assintomático.
- Trombose da veia renal esquerda e veia cava inferior apresentada como cólica renal: caso clínicoPublication . Simões, P; Alberto, C; Oliveira, A; Mota, A