6 documents found, page 1 of 1
A case/non-case study of a national pharmacovigilance database to explore drug-...
Oliveira, CL; Fernandez-Llimos, F; da Costa, FA; Aguiar, JP; Duarte-Ramos, FBackgroundMonitoring safety throughout a medicine's lifecycle is essential. Pharmacovigilance systems are rich sources contributing to this aim in a real world context.AimTo identify and estimate disproportionality rates associated with the drugs that are most frequently reported to induce acute kidney injury (AKI).MethodA case/non-case study was conducted, using data extracted in 2022 from the Portuguese Natio...
Effects of inpatient creatinine testing frequency on acute kidney injury identi...
Oliveira, CL; Duarte-Ramos, F; da Costa, FA; Fernandez-Llimos, FBackground: Acute kidney injury (AKI) is a multifactorial condition often induced by drugs commonly used in hospitals. Identifying and staging AKI necessitates frequent monitoring of renal function. Aim: To assess the impact of real-world hospital practices regarding serum creatinine (SCr) testing on the identification and staging of AKI, and its implications for adjusting drug doses. Method: A historical cohor...
Effects of inpatient creatinine testing frequency on acute kidney injury identi...
Oliveira, CL; Duarte-Ramos, F; da Costa, FA; Fernandez-Llimos, FBackground: Acute kidney injury (AKI) is a multifactorial condition often induced by drugs commonly used in hospitals. Identifying and staging AKI necessitates frequent monitoring of renal function. Aim: To assess the impact of real-world hospital practices regarding serum creatinine (SCr) testing on the identification and staging of AKI, and its implications for adjusting drug doses. Method: A historical cohor...
Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat length...
Loureiro, JR; Oliveira, CL; Mota, C; Castro, AF; Costa, C; Loureiro, JL; Coutinho, P; Martins, S; Sequeiros, J; Silveira, IDynamic mutations by microsatellite instability are the molecular basis of a growing number of neuromuscular and neurodegenerative diseases. Repetitive stretches in the human genome may drive pathogenicity, either by expansion above a given threshold, or by insertion of abnormal tracts in nonpathogenic polymorphic repetitive regions, as is the case in spinocerebellar ataxia type 37 (SCA37). We have recently est...
A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar...
Loureiro, JR; Oliveira, CL; Sequeiros, J; Silveira, ISpinocerebellar ataxia 37 (SCA37) is caused by an (ATTTC)n insertion in a polymorphic ATTTT repeat in the non-coding region of DAB1. The non-pathogenic alleles have a configuration [(ATTTT)7-400], whereas pathogenic alleles have a complex structure of [(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]. Molecular diagnosis of SCA37 is laborious because about 7% of the pentanucleotide repeat alleles in DAB1 are larger than 3...
A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapp...
Seixas, AI; Loureiro, JR; Costa, C; Ordóñez-Ugalde, A; Marcelino, H; Oliveira, CL; Loureiro, JL; Dhingra, A; Brandão, E; Cruz, VT; Timóteo, AAdvances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that characterize the non-coding genome remain difficult to reach by that technology. For autosomal-dominant spinocerebellar ataxias (SCAs), 28 genes have been identified, b...