Publications by authors named "B Masotto"
Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.
View Article and Find Full Text PDFNoonan syndrome and related disorders are a group of well-known genetic conditions caused by dysregulation of the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway. Because of the overlap of clinical and molecular features, they are now called RASopathies. In this study, we retrospectively analyzed the clinical data of 121 patients with a molecularly confirmed diagnosis of RASopathy, describing frequencies for clinical features in all organ systems as well as molecular data.
View Article and Find Full Text PDFArticle Synopsis
- The study investigates 11 previously unreported patients with a neurodevelopmental disorder (NDD) caused by genetic changes in the RNU4-2 gene, highlighting the need for better diagnostic approaches as many NDDs remain undiagnosed.
- The patients, ranging from 13 months to 36 years old, exhibited severe developmental delays, distinct physical features, and other health issues like microcephaly and intrauterine growth retardation.
- The findings enhance the understanding of RNU4-2 syndrome's phenotypic spectrum, emphasizing the importance of thorough clinical evaluations in identifying and characterizing new syndromes in patients with NDDs.
Transcanal transpromontorial approach for vestibular schwannoma: experience of a single center.
Eur Arch Otorhinolaryngol
May 2024
Background: The expanded transpromontorial transcanal approach (ExpTTA) represents a recent addition to the surgical approaches available for the treatment of vestibular schwannoma. An initial purely endoscopic version has been complemented by the use of the microscope and it is now one of the possible surgical options for small to medium-sized vestibular schwannomas with a predominantly intracanalar development.
Methods: This is a series of 54 patients who underwent microsurgical resection of sporadic, unilateral vestibular schwannoma, mainly Koos I-II with non-serviceable hearing, between January 2016 and January 2023 using the expanded transcanal transpromontorial approach.
Article Synopsis
- The DIP2 gene, first found in fruit flies, is crucial for neuron branching and regeneration, with vertebrate versions (DIP2A, DIP2B, and DIP2C) being highly conserved in the central nervous system.
- Research showed that mutations in DIP2C are linked to developmental delays in expressive language and speech articulation in 23 affected individuals.
- Alongside developmental issues, some individuals with DIP2C variants also presented with various cardiac defects and minor facial anomalies, highlighting a connection between the gene's loss-of-function and neurocognitive and physical phenotypes.