Publications by authors named "S F Garbade"
Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1.
Int J Neonatal Screen
December 2024
Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disease increasingly included in newborn screening (NBS) programs worldwide. Because of the broad biochemical spectrum of individuals with GA1 and the lack of reliable second-tier strategies, NBS for GA1 is still confronted with a high rate of false positives. In this study, we aim to increase the specificity of NBS for GA1 and, hence, to reduce the rate of false positives through machine learning methods.
View Article and Find Full Text PDFDipeptides (DPs), composed of two amino acids (AAs), hold significant therapeutic potential but remain underexplored. Given the crucial role of AAs in central nervous system (CNS) function, this study investigated the presence of DPs in cerebrospinal fluid (CSF) and their correlation with corresponding AAs, potentially indicating their role as AA donors. Plasma and CSF samples were collected from 43 children with neurological or metabolic conditions of unknown origin, including 23 with epilepsy.
View Article and Find Full Text PDFArticle Synopsis
- - Aicardi syndrome is a rare condition primarily affecting girls, characterized by infantile spasms, chorioretinal defects, and agenesis of the corpus callosum, with unknown causes and unclear treatment strategies.
- - The study analyzed 245 cases, revealing that the average age for symptoms to appear was around 2.2 months, with a diagnostic delay of about 1 month and mortality rates of 6% and 17% at 1 and 5 years, respectively.
- - The findings provide important clinical endpoints and natural history data, which could enhance disease awareness and support future research and clinical trials for Aicardi syndrome.
Article Synopsis
- * An analysis of 1,192 participants revealed elevated sACE2 activity following exposure to SARS-CoV-2, especially in children, indicating a significant response regardless of infection status.
- * The research suggests that increased sACE2 activity could help manage SARS-CoV-2 infections, proposing a more nuanced understanding of immune responses beyond traditional infection classifications.