6 documents found, page 1 of 1
Atypical phenotype in two patients with LAMA2 mutations
Marques, J; Duarte, ST; Costa, S; Jacinto, S; Oliveira, J; Oliveira, ME; Santos, R; Bronze-da-Rocha, E; Silvestre, AR; Evangelista, T; Calado, ECongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...
Body Fat Percentage Is a Major Determinant of Total Bilirubin Independently of ...
Belo, L; Nascimento, H; Kohlova, M; Bronze-da-Rocha, E; Fernandes, J; Costa, E; Catarino, C; Aires, L; Mansilha, HF; Rocha-Pereira, P; Quintanilha, AOBJECTIVES: Bilirubin has potential antioxidant and anti-inflammatory properties. The UGT1A1*28 polymorphism (TA repeats in the promoter region) is a major determinant of bilirubin levels and recent evidence suggests that raised adiposity may also be a contributing factor. We aimed to study the interaction between UGT1A1 polymorphism, hematological and anthropometric variables with total bilirubin levels in you...
Aging is Associated with Impaired Renal Function, INF-gamma Induced Inflammatio...
Costa, E; Fernandes, J; Ribeiro, S; Sereno, J; Garrido, P; Rocha-Pereira, P; Coimbra, S; Catarino, C; Belo, L; Bronze-da-Rocha, E; Vala, H; Alves, ROur aim was to contribute to a better understanding of the pathophysiology of anemia in elderly, by studying how aging affects renal function, iron metabolism, erythropoiesis and the inflammatory response, using an experimental animal model. The study was performed in male Wistar, a group of young rats with 2 months age and an old one with 18 months age. Old rats presented a significant higher urea, creatinine,...
Atypical Phenotype in Two Patients with LAMA2 Mutations
Marques, J; Duarte, S; Costa, S; Jacinto, S; Oliveira, J; Oliveira, M; Santos, R; Bronze-da-Rocha, E; Silvestre, AR; Calado, E; Evangelista, TCongenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...
Risk Factors for Mortality in Hemodialysis Patients: Two-Year Follow-Up Study
Sameiro Faria, M; Ribeiro, S; Costa, E; Mendonça, D; Teixeira, L; Rocha-Pereira, P; Fernandes, J; Nascimento, H; Kohlova, M; Reis, F; Amado, LBackground. End-stage renal disease (ESRD) patients under hemodialysis (HD) have high mortality rate. Inflammation, dyslipidemia, disturbances in erythropoiesis, iron metabolism, endothelial function, and nutritional status have been reported in these patients. Our aim was to identify any significant association of death with these disturbances, by performing a two-year follow-up study. Methods and Results. A l...
LAMA2 Gene Analysis in a Cohort of 26 Congenital Muscular Dystrophy Patients
Oliveira, J; Santos, R; Soares-Silva, I; Jorge, P; Vieira, E; Oliveira, ME; Moreira, A; Coelho, T; Ferreira, JC; Fonseca, MJ; Barbosa, C; Prats, JCongenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the LAMA2 gene encoding laminin-alpha2. We describe the molecular study of 26 patients with clinical presentation, magnetic resonance imaging and/or laminin-alpha2 expression in muscle, compatible with MDC1A. The combination of full genomic sequencing and complementary DNA analysis led to the particularly high mutation detection rate of 96%...