9 documents found, page 1 of 1
Castleman disease. A rare diagnosis in childhood
Cunha, Sara Monteiro; Vasconcelos, Sofia; Neto, Cláudia; Oliva, Tereza; Salgado, MiguelIntroduction: Castleman Disease (CD) is a rare polyclonal lymphoproliferative disorder characterized by massive growth of lymphoid tissue. The most common sites of disease are the chest, abdomen, neck, and axilla. Excisional biopsy is mandatory for diagnosis, and complete surgical resection the gold-standard treatment in unicentric CD. Case report: A ten-year-old girl was observed at the Emergency Department wi...
Castleman disease. A rare diagnosis in childhood
Monteiro-Cunha, Sara; Vasconcelos, Sofia; Neto, Cláudia; Oliva, Tereza; Salgado, MiguelIntroduction: Castleman Disease (CD) is a rare polyclonal lymphoproliferative disorder characterized by massive growth of lymphoid tissue. The most common sites of disease are the chest, abdomen, neck, and axilla. Excisional biopsy is mandatory for diagnosis, and complete surgical resection the gold-standard treatment in unicentric CD. Case report: A ten-year-old girl was observed at the Emergency Department wi...
Síndroma de QT Longo: relato de caso de uma causa rara de síncope em idade pedi...
Rebelo, Alícia Raquel; Lopes, Andreia; Magalhães, Catarina; Sarmento, João; Salgado, MiguelIntrodução: A síncope é um motivo frequente de preocupação em idade pediátrica. Apesar da sua etiologia ser maioritariamente benigna, é essencial excluir causas graves e potencialmente fatais que, embora raras, devem fazer parte do diagnóstico diferencial destas situações. Para isso, é necessário existir um elevado índice de suspeição.Descrição de caso: Adolescente de 12 anos, previamente saudável, observado no...
Familial chylomicronemia syndrome in Portugal
Alves, Ana Catarina; Miranda, Beatriz; Sequeira, Sílvia; Moldovan, Oana; Nunes, Catarina; Antunes, Henedina; Martins, Esmeralda; Gonçalves, RuteFamilial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of lipoprotein metabolism. It is characterized by marked elevation of triglyceride and chylomicron levels, lipaemic plasma, recurrent pancreatitis, eruptive xanthoma, hepatosplenomegaly, andliapemiaretinalis. All genes associated with FCS (LPL, APOC2, APOA5, LMF1 and GPHBP1) have an effect on the activity of lipoprotein lipase (LPL)....
Familial Chylomicronemia Syndrome: clinical and molecular characterization of i...
Alves, Ana Catarina; Abrantes, Leonor; Sequeira, Sílvia; Moldovan, Oana; Nunes, Catarina; Antunes, Henedina; Martins, Esmeralda; Gonçalves, RuteAim: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of lipoprotein metabolism. It is characterized by marked elevation of triglyceride and chylomicron levels, lipaemic plasma, recurrent pancreatitis, eruptive xanthoma, hepatosplenomegaly, and liapemia retinalis. All genes associated with FCS (LPL, APOC2, APOA5, LMF1 and GPHBP1) have an effect on the activity of lipoprotein lipase...
Síndrome de quilomicronemia familiar em Portugal, agosto 2020
Alves, Ana Catarina; Sequeira, Sílvia; Moldovan, Oana; Antunes, Henedina; Martins, Esmeralda; Gonçalves, Rute; Duarte, João Sequeira; Guerra, AntónioA síndrome de quilomicronemia familiar (FCS) é uma doença rara, com hereditariedade recessiva, envolvendo o metabolismo das lipoproteínas. Carateriza-se por um aumento acentuado dos triglicéridos (TGs) e quilomicras no plasma. Os doentes apresentam plasma lipémico, pancreatite recorrente, xantomas eruptivos, hepatoesplenomegalia e lipemia retiniana. O presente estudo tem como objetivo a caraterização molecular ...
Using a Triple Helix approach to examine interactions and dynamics of innovatio...
Natário, Manuela; Braga, Ascensão; Daniel, Ana; Rosa, Cecília; Salgado, MiguelUsing the Triple Helix model, this article examines the contribution of a higher education institution, the Polytechnic of Guarda (PG), located in an inland, a less-favoured region of Portugal, to territorial innovation dynamics. The main goal is to explore how the interaction and cooperation between the three helices of the Guarda region (PG, companies and local governance institutions) fosters innovation and ...
Angioedema recorrente – caso clínico
Martins, Sandrina; Salgado, Miguel; Raposo, Filipa; Pinto, Diana; Martinho, Isabel; Araújo, Ana RitaIntrodução: O Angioedema hereditário (AEH) é uma causa rara de angioedema recorrente, resultante de um defeito a nível do gene que codifica o inibidor do C1 esterase (C1 -INH). O edema envolve predominantemente os tecidos da face, membros, trato gastrointestinal e área genital. O envolvimento da laringe, apesar de menos frequente, constitui a expressão clínica mais grave, sendo potencialmente fatal. Caso clínic...
Angioedema recorrente – caso clínico
Martins, Sandrina; Salgado, Miguel; Raposo, Filipa; Pinto, Diana; Martinho, Isabel; Araújo, RitaIntroduction: Hereditary angioedema (HA) is a rare cause of recurrent angioedema caused by a default in the gene that encodes the C1 esterase inhibitor (C1-INH). The oedema involves predominantly the face, limbs and genital and gastrointestinal tract. The involvement of the larynx, although less frequent, is the most severe clinical expression of HA and is potentially fatal. Case report: Clinical report of an e...