Publications by authors named "M Gonfiantini"
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.
Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.
View Article and Find Full Text PDFPurpose: the aim of the present study is to analyse the composition of the currently available topical antiseptic products and the related scientific evidence, and to discuss the implications of their use in the prevention of endophthtalmitis.
Methods: products available on the market until February 2024 were considered. Information provided on the illustration leaflet of each product were analysed.
Introduction: This study investigates the early temporal changes in pigment epithelial detachment (PED) morphology following treatment with faricimab in patients with neovascular age-related macular degeneration (nAMD). Utilizing an artificial intelligence (AI)-assisted approach, we provide a detailed quantification and characterization of the dynamics of these morphological changes.
Methods: A prospective observational study was conducted on 22 eyes from 22 treatment-naïve patients with nAMD-associated PED (presenting either type 1 or type 3 macular neovascularization).
Article Synopsis
- Cockayne syndrome (CS) is a rare disorder with three forms and unclear connections between genes and symptoms; this study focuses on patients with genetically confirmed CS type B.
- Researchers collected comprehensive data from eight CSB patients, assessing clinical features, demographics, and genetic information, discovering unique gene variants among them.
- The findings reveal significant clinical variability in CSB and introduce serum neurofilament light-chain (sNFL) as a potential biomarker for measuring disease severity, showing increased levels that correspond to clinical classification.