4 documents found, page 1 of 1
Biochemical and Anthropometric Outcomes in Paediatric Patients with Heterozygou...
Peres, M; Moreira-Rosário, A; Padeira, G; Gaspar Silva, P; Correia, C; Nunes, A; Garcia, E; Faria, A; Teixeira, D; Calhau, C; Pereira-da-Silva, LThe COVID-19 pandemic lockdowns affected the lifestyles of children and adolescents, leading to an increase in childhood obesity. Paediatric patients with familial hypercholesterolemia (FH) may be more susceptible to lockdown effects due to their increased cardiovascular risk. However, data are lacking. We investigated the effect of lockdowns on the metabolic profile of paediatric patients with FH. Blood lipids...
Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with ...
Padeira, G; Cavaco, BM; Virella, D; Sá-Couto, H; Lopes, MLHeterozygous inactivating pathogenic variants of the calcium-sensing receptor encoding gene cause autosomal dominant familial hypocalciuric hypercalcemia, whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism, a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with familial hypocalciuric hypercalcemia/neonatal seve...
Complex Phenotype of Hypercholesterolemia in a Family with Both ABCG8 and APOB ...
Ferreira, AC; Alves, AC; Medeiros, AM; Padeira, G; Bourbon, MFamilial hypercholesterolemia is a common genetic hypercholesterolemia caused by mutations in LDLR, APOB and PCSK9 that leads to premature atherosclerosis. Other rare disorders like sitosterolemia can present the same phenotype but have distinct therapeutic interventions. We present a case of severe hypercholesterolemia in a 5-year-old child found to have both familial hypercholesterolemia and sitosterolemia. T...
Meningitis in a Small Infant. When Something is Not What it Seems
Padeira, G; Conceição, C; Vieira, JP; Brito, MJ