No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by variants in GLA gene leading to deficient α-galactosidase A enzyme activity. This deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), in various tissues and organs, which can result in life-threatening complications. The clinical presentation of the disease can vary from the "classic" phenotype with pediatric onset and multi-organ involvement to the "later-onset" phenotype, which presents with predominantly cardiac symptoms.

Aortic roadmapping during EVAR: a combined FEM-EM tracking feasibility study.

Purpose: Currently, the intra-operative visualization of vessels during endovascular aneurysm repair (EVAR) relies on contrast-based imaging modalities. Moreover, traditional image fusion techniques lack a continuous and automatic update of the vessel configuration, which changes due to the insertion of stiff guidewires. The purpose of this work is to develop and evaluate a novel approach to improve image fusion, that takes into account the deformations, combining electromagnetic (EM) tracking technology and finite element modeling (FEM).

The Burden of Herpes Zoster on Hospital Admissions: A Retrospective Analysis in the Years of 2015-2021 from the Abruzzo Region, Italy.

(1) Background: Herpes zoster (HZ) is a disease caused by the reactivation of the Varicella Zoster Virus (VZV). Clinical reactivation, herpes zoster, takes place in 10-20% of subjects who contracted the primary infection, with a higher risk of developing zoster increasing proportionally with age, especially after 50 years of age. HZ is a common clinical problem, particularly among patients aged over 50 years and immunocompromised patients.