0000000000001718
AUTHOR
Josep M. Cruzado
Frequency of Renal Dysfunction and Frailty in Patients ≥80 Years of Age With Acute Coronary Syndromes.
While a significant association between renal function and outcomes in patients with acute coronary syndromes (ACS) has been consistently described, little information exists about the magnitude of this association in patients at older ages. No study assessed the prognostic role of renal function according to frailty in patients with ACS. The LONGEVO-SCA registry included unselected ACS patients aged≥80 years. Frailty was asessesed by the FRAIL scale, and baseline creatinine clearance was calculated by the Cockroff-Gault formula. We evaluated the impact of renal function on mortality or readmission at 6-months according to frailty status by the Cox regression method. A total of 473 patients…
Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene
Background. Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method. Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient p…