Publications by authors named "B Rinaldi"
Article Synopsis
- Brain development involves the coordinated growth of structures necessary for forming neural circuits, with the corpus callosum being a crucial connection between brain hemispheres.
- Defects in the growth process, particularly in the development of callosal projection neurons, can lead to syndromic corpus callosum dysgenesis (CCD) and are associated with other conditions like microcephaly.
- The study identifies WDR47 as a key gene responsible for survival of callosal neurons and highlights its role in mitochondrial and microtubule maintenance, suggesting that mutations in this gene lead to a new neurodevelopmental syndrome involving corpus callosum abnormalities.
Article Synopsis
- The study investigated how the asthma medications fluticasone furoate (FF) and umeclidinium (UME) interact in human airways, focusing on whether their effects are synergistic or additive.
- FF was found to cause partial relaxation of airways, while UME was more effective in medium bronchi but less so in smaller airways.
- The combination of FF and UME resulted in greater airway relaxation than using each drug alone, suggesting that higher doses of FF may enhance their combined effectiveness, warranting further research on clinical applications.
Late Hepatocellular Carcinoma Occurrence in Patients Achieving Sustained Virological Response After Direct-Acting Antiviral Therapy: A Matter of Follow-Up or Something Else?
J Clin Med
September 2024
: Despite achieving a sustained virological response (SVR) with direct-acting antivirals (DAAs), an unexpected increase in the occurrence rate of hepatocellular carcinoma (HCC) has been observed among HCV-treated patients. This study aims to assess the long-term follow-up of HCV patients treated with DAAs who achieved an SVR to investigate the potential for late-onset HCC. : In this prospective multicenter study, we enrolled consecutive HCV patients treated with DAAs following Italian ministerial guidelines between 2015 and 2018.
View Article and Find Full Text PDFBackground: Dilated cardiomyopathy (DCM) is an etiologically heterogeneous group of diseases of the myocardium. With the rapid evolution in laboratory investigations, genetic background is increasingly determined including many genes with variable penetrance and expressivity. Biallelic NEXN variants are rare in humans and associated with poor prognosis: fetal and perinatal death or severe DCMs in infants.
View Article and Find Full Text PDFArticle Synopsis
- - Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder that involves intellectual disabilities, unique facial features, and unusually large thumbs and toes, with most cases linked to specific genetic variants.
- - The syndrome is considered a chromatinopathy due to the mutations affecting genes involved in epigenomic regulation, making it difficult to diagnose based solely on phenotype due to its varied presentation.
- - A case study of a patient with a rare form of RTS highlights the issue of potential underdiagnosis for milder cases, suggesting that combining phenotype-based diagnostics with advanced genetic sequencing techniques may improve detection rates.