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Unveiling the Role of APOB Variants in Familial Hypercholesterolemia: Functiona...

Ferreira, Maria Simões; Ramos, Diana; Rato, Inês; Jannes, Cinthia E.; Larrea-Sebal, Asier; Martín, César; Bourbon, Mafalda; Alves, Ana Catarina

Familial hypercholesterolemia (FH) is a condition characterized by increased LDL cholesterol levels with APOB variants accounting for about 5-10% of FH cases. However, variants in this gene may be more common than initially estimated since the entire APOB gene has only recently started to be sequenced. Although most of the alterations are missense, nonsense variants and small indels in exon 29 were also identif...


Breech Presentation: Vaginal Versus Cesarean Delivery, Which Intervention Leads...

Fonseca, Andreia; Silva, Rita; Rato, Inês; Neves, Ana Raquel; Peixoto, Carla; Ferraz, Zita; Ramalho, Inês; Carocha, Ana; Félix, Nisa

Introduction: The best route of delivery for the term breech fetus is still controversial. We aim to compare maternal and neonatal outcomes between vaginal and cesarean term breech deliveries.Material and Methods: Multicentric retrospective cohort study of singleton term breech fetuses delivered vaginally or by elective cesarean section from January 2012 - October 2014. Primary outcomes were maternal and neonat...

Date: 2017   |   Origin: Acta Médica Portuguesa

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