6 documents found, page 1 of 1
Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patien...
Manco, Licínio; Pereira, Janet; Fidalgo, Teresa; Cunha, Marina; Pinto-Gouveia, José; Padez, Cristina; Palmeira, LaraWe examined 12 monogenic obesity genes in 72 Portuguese individuals with overweight and obesity (class 1 and class 2), some of which with suspected genetic obesity, to identify known or unknown potential obesity variants. Genomic DNA was analyzed for variants in genes LEP, LEPR, MC4R, POMC, PCSK1, BDNF, NTRK2, SIM1, SH2B1, UCP3, GCG and ADCY3 through next generation sequencing (NGS). The impact of the rare vari...
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as he...
Navarro, David; Azevedo, Ana; Sequeira, Sílvia; Ferreira, Ana Carina; Carvalho, Fernanda; Fidalgo, Teresa; Vilarinho, Laura; Santos, Maria CéuThrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, w...
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic ...
Fidalgo, Teresa; Martinho, Patrícia; Pinto, Catarina S.; Oliveira, Ana C.; Salvado, Ramon; Borràs, Nina; Coucelo, Margarida; Manco, LicínioBackground: The 2 main forms of thrombotic microangiopathy (TMA) are thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome (aHUS). Deficiency of ADAMTS13 and dysregulation of the complement pathway result in TTP and aHUS, respectively; however, overlap of their clinical characteristics makes differential diagnosis challenging. Objectives and Methods: We aimed to develop a TMA diagnosi...
Von Willebrand Disease: be or not to be, that is the question
Azevedo, Ana; Freire, Isabel; Fidalgo, Teresa; Gago, Teresa
Familial thrombotic risk based on the genetic background of Protein C Deficienc...
Fidalgo, Teresa; Martinho, Patrícia; Salvado, Ramon; Manco, Licínio; Oliveira, Ana C.; Pinto, Catarina S.; Gonçalves, Elsa; Marques, Dalila
JAK2V617F allele burden is associated with thrombotic mechanisms activation in ...
Coucelo, Margarida; Caetano, Gonçalo; Sevivas, Teresa; Santos, Susana Almeida; Fidalgo, Teresa; Bento, Celeste; Fortuna, Manuela; Duarte, Marta