Publications by authors named "R Brugnoni"
Background: Since the beginning of the anti-COVID-19 vaccination campaign, it has become evident that vaccinated subjects exhibit considerable inter-individual variability in the response to the vaccine that could be partly explained by host genetic factors. A recent study reported that the immune response elicited by the Oxford-AstraZeneca vaccine in individuals from the United Kingdom was influenced by a specific allele of the human leukocyte antigen gene HLA-DQB1.
Methods: We carried out a genome-wide association study to investigate the genetic determinants of the antibody response to the Pfizer-BioNTech vaccine in an Italian cohort of 1351 subjects recruited in three centers.
Background: The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation.
View Article and Find Full Text PDFIntroduction: Skeletal muscle channelopathies (SMCs) are a heterogenous group of disorders, caused by mutations in skeletal ion channels leading to abnormal muscle excitability, resulting in either delayed muscle relaxation (myotonia) which characterizes non-dystrophic myotonias (NDMs), or membrane transient inactivation, causing episodic weakness, typical of periodic paralyses (PPs).
Areas Covered: SMCs include myotonia congenita, paramyotonia congenita, and sodium-channel myotonia among NDMs, and hyper-normokalemic, hypokalemic, or late-onset periodic paralyses among PPs. When suspecting an SMC, a structured diagnostic approach is required.
Article Synopsis
- - Schwartz-Jampel syndrome type 1 (SJS1) is a rare genetic disorder linked to mutations in the perlecan gene, impacting muscle and bone function.
- - A Moroccan child with SJS1 was found to have two different mutations in the perlecan gene, leading to the skipping of specific exons in mRNA, which were detected through advanced DNA sequencing.
- - The study highlights that while therapy for SJS1 focuses on managing symptoms, there are challenges in linking the genetic mutations to specific clinical features, and they noted a rare case of spontaneous improvement in symptoms.
Article Synopsis
- The study investigated whether the immune system could provide potential biomarkers to differentiate subtypes of immune-mediated necrotizing myopathies (IMNMs) using samples from 22 patients (7 with SRP autoantibodies and 15 with HMGCR autoantibodies) and 12 controls.
- It was found that M1 macrophages were significantly more prevalent in muscle samples from both SRP and HMGCR patients, with notable increases in TLR4 and endosomal Toll-like receptors (TLRs) in IMNM muscle tissue.
- TLR4 and the cytokine IL-7 were identified as potential immune biomarkers that could help distinguish between SRP and HMGCR patients, with IL-7 being higher