Publications by authors named "S Beltran"
Importance: There is growing understanding that Social Determinants of Health (SDH) impact on the outcomes of different pediatric conditions. We aimed to determine whether SDH affect the severity of MIS-C.
Design: Retrospective cohort study, 2021-2023.
Amyotrophic lateral sclerosis (ALS) is a debilitating and fatal paralytic disorder associated with motor neuron death. Mutant superoxide dismutase 1 (SOD1) misfolding and aggregation have been linked to familial ALS, with the accumulation of abnormal wild-type SOD1 species being also observed in postmortem tissue of sporadic ALS cases. Both wild-type and mutated SOD1 are reported to contribute to motoneuron cell death.
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- * By employing three CNV calling algorithms to enhance detection, we successfully provided molecular diagnoses to 51 families, with ClinCNV showing the highest effectiveness among the algorithms used.
- * Additionally, we found partially explanatory pathogenic CNVs in 34 other individuals, highlighting the importance and benefits of revisiting past exome sequencing data in search of CNVs.
Purpose: Amyotrophic lateral sclerosis (ALS) clinical variability, along with the lack of conclusive diagnostic instruments, result in average diagnosis delays of 9 months. This study aimed to assess whether metabolomic profiling of basal tears in ALS patients could act as a biological marker for diagnosing ALS, predicting prognosis, and discriminating between endophenotypes.
Methods: A single-center prospective case-control study was conducted in France from September 2021 to March 2023 including patients with ALS according to the revised EI Escorial criteria.