The Identification of a Novel Pathogenic Variant of the Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.

Anderson-Fabry (or Fabry) disease is a rare lysosomal storage disorder caused by a functional deficiency of the enzyme alpha-galactosidase A. The partial or total defect of this lysosomal enzyme, which is caused by variants in the gene, leads to the accumulation of glycosphingolipids, mainly globotriaosylceramide in the lysosomes of different cell types. The clinical presentation of Fabry disease is multisystemic and can vary depending on the specific genetic variants associated with the disease.

Phylogenetic relationships, biofilm formation, motility, antibiotic resistance and extended virulence genotypes among Escherichia coli strains from women with community-onset primitive acute pyelonephritis.

The present work set out to search for a virulence repertoire distinctive for Escherichia coli causing primitive acute pyelonephritis (APN). To this end, the virulence potential of 18 E. coli APN strains was genotypically and phenotypically assessed, comparatively with 19 strains causing recurrent cystitis (RC), and 16 clinically not significant (control, CO) strains.

[Acute hepatotoxicity from intravenous amiodarone in a patient on hemodialysis].

Amiodarone is a class III antiarrhythmic drug used to treat several tachyarrhythmias. Although toxicity by long-term oral therapy is known, it is rare to observe the acute toxicity correlated to intravenous use. We report an unusual case of acute hepatotoxicity after the initiation of intravenous amiodarone for atrial fibrillation in a patient on regular hemodialysis.