Publications by authors named "T Sevilla"
Article Synopsis
- - The study focuses on diagnosing asymptomatic hyperCKemia in pediatric patients using next-generation sequencing (NGS) and other diagnostic tools, as genetic myopathies are often linked to elevated creatine kinase levels.
- - Conducted on 65 patients, the study found that NGS successfully diagnosed 55% of cases, with seven specific genes frequently showing pathogenic variants, while muscle biopsies were crucial for identifying myopathologic features.
- - The research highlighted the effectiveness of EMG in revealing myopathic features in 48% of cases, although some diagnostic challenges remained, with 14% and 29% of diagnoses being inconclusive.
Background And Purpose: ITPR3 encodes type 3 inositol-tri-phosphate receptor (IPR3), a protein expressed in Schwann cells, predominantly in the paranodal region, and involved in the regulation of Ca release from the endoplasmic reticulum. Dominant variants in ITPR3 have recently been recognized as a rare cause of intermediate Charcot-Marie-Tooth disease (CMT).
Methods: We collected the clinical data of a family with autosomal dominant neuropathy whose proband was diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) for many years.
Background: Variant transthyretin amyloidosis (ATTRv) is a rare multisystemic disorder caused by mutations in the transthyretin (TTR) gene. The aim of the present work was to describe the clinical profile of asymptomatic carriers (AC) and Coutinho stage 1 ATTRv patients in Spain.
Methods: National, multicentre, cross-sectional study that included 86 AC and 19 patients diagnosed in the previous 12 months to enrolment.
Background And Purpose: The purpose was to describe the risk of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, hospitalization for coronavirus disease 2019 (COVID-19) and related death and to assess the impact of the pandemic in the survival of amyotrophic lateral sclerosis (ALS) patients.
Methods: The risk of SARS-CoV-2 infection, hospitalization for COVID-19 and related death was assessed in ALS patients alive between March 2020 and July 2022. To evaluate its impact in the overall survival of ALS patients, the survival of patients who died before and during the pandemic was compared.