Publications by authors named "E Miraglia del Giudice"
Variants in Cyclin F () have been associated to amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) in a group of cases. The objectives of this study were to determine the contribution of in a large cohort of Italian ALS patients, to look for genotype-phenotype correlation of the mutations and to evaluate the -associated clinical features. We applied next-generation sequencing technologies on 971 unrelated Italian ALS patients and we filtered results to look for variants in gene.
View Article and Find Full Text PDFInvolvement of the temporomandibular joint (TMJ) in patients with juvenile idiopathic arthritis (JIA) has been increasingly reported, affecting up to 87% of cases. This involvement generally occurs after the diagnosis of JIA has been established; however, in the authors' cases, as in a few others documented in the literature, patients presented with isolated TMJ arthritis as the sole joint involvement. The authors performed a narrative literature review on TMJ involvement in JIA and reported 2 cases that presented with isolated TMJ arthritis as the initial manifestation of JIA.
View Article and Find Full Text PDFThe study aimed to evaluate how plasma total proteins, their fractions (i.e. albumin, α1-, β-, γ-globulins) and A/G ratio change in lambs and kids over the first month of life.
View Article and Find Full Text PDFEpithelial-mesenchymal transition (EMT) involves profound changes in cell morphology, driven by transcriptional and epigenetic reprogramming. However, evidence suggests that translation and ribosome composition also play key roles in establishing pathophysiological phenotypes. Using genome-wide analyses, we reported significant rearrangement of the translational landscape and machinery during EMT.
View Article and Find Full Text PDFArticle Synopsis
- The study aimed to explore gender differences in the phenotypical expression of Behçet's disease (BD) using data from the International AIDA Network Registry, focusing on damage index, disease manifestations, and cardiovascular risk.
- A total of 1024 patients (567 males and 457 females) were examined, revealing that males had a significantly higher overall damage index and more frequent occurrences of uveitis and vascular involvement, while females showed higher instances of arthralgia, arthritis, and CNS involvement.
- Key factors associated with major organ involvement included male gender, treatment with biologic agents, origin from endemic regions, and longer disease duration, indicating a more severe course of BD in males compared to females.