A5089988641- Muscle Physiology and Disorders
- Inflammatory Myopathies and Dermatomyositis
- Nuclear Structure and Function
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Cellular Mechanics and Interactions
- Biotin and Related Studies
- Mesenchymal stem cell research
- Peripheral Neuropathies and Disorders
- Autoimmune Neurological Disorders and Treatments
- Neurological and metabolic disorders
- Muscle and Compartmental Disorders
- Myasthenia Gravis and Thymoma
- Protein Tyrosine Phosphatases
- RNA regulation and disease
- GDF15 and Related Biomarkers
- Genetic Neurodegenerative Diseases
- Melanoma and MAPK Pathways
- Neurological diseases and metabolism
- Muscle metabolism and nutrition
- Infectious Encephalopathies and Encephalitis
- Hepatitis B Virus Studies
- Prion Diseases and Protein Misfolding
- Hair Growth and Disorders
- Chemokine receptors and signaling
Fondazione IRCCS Istituto Neurologico Carlo Besta
2008-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2019
University of Milano-Bicocca
2011
Istituto Superiore di Sanità
2011
Febrile infection-related epilepsy syndrome (FIRES) is a severe epileptic encephalopathy with presumed inflammatory origin and lacking effective treatments. Anakinra the human recombinant interleukin 1 receptor antagonist clinically used in autoinflammatory or autoimmune conditions. We report case of FIRES for which spatial temporal match between electroencephalography (EEG) magnetic resonance imaging (MRI) focal alterations provides support detrimental synergic interplay seizures...
Biglycan and decorin are small extracellular proteoglycans that interact with cytokines, whose activity they may modulate, matrix proteins, particularly collagens. To better understand their role in muscle fibrosis, we investigated expression of biglycan transcripts protein several forms muscular dystrophy, also perlecan, an proteoglycan unrelated to collagen deposition. In Duchenne dystrophy (DMD) LAMA2-mutated congenital (MDC1A) quantitated transcript levels the profibrotic cytokine...
Juvenile dermatomyositis (JDM), adult dermatomyositis, and polymyositis (PM) are idiopathic inflammatory myopathies (IIMs) characterized by muscle infiltration specific fiber alterations. They thought to have an autoimmune etiology, but triggering factors, how immunologic attack induces weakness, remain unknown. Recent evidence suggests a key role for type I interferon (IFN)-mediated innate immunity in which we explored JDM, PM gene expression profiling, other methods.Ten IIM 5 control...
Zanotti S, Gibertini Di Blasi C, Cappelletti Bernasconi P, Mantegazza R, Morandi L & Mora M (2011) Histopathology 59, 1215–1228 Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role regeneration fibrosis Aims: To increase our understanding of profibrotic mechanisms muscle. Methods results: Extracellular matrix, fibrosis-related molecules histopathology were assessed skeletal patients with Duchenne muscular dystrophy (DMD), Becker (BMD), congenital type 1A...
Autophagy has a large range of physiological functions and its dysregulation contributes to several human disorders, including autoinflammatory/autoimmune diseases such as inflammatory myopathies (IIMs). In order better understand the pathogenetic mechanisms these muscular we sought define role autophagic processes their relation with innate immune system in three main subtypes IIM, specifically sporadic inclusion body myositis (sIBM), polymyositis (PM), dermatomyositis (DM) juvenile (JDM)....
Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular 1B are characterized muscle weakness wasting, joint contractures, cardiomyopathy with conduction system disorders. Circulating biomarkers for these pathologies have not been identified. Here, we analyzed the secretome of a cohort patients affected laminopathies attempt to identify common signature. Multiplex cytokine assay showed that transforming growth factor beta (TGF...
// Camilla Evangelisti 1 , Pia Bernasconi 2 Paola Cavalcante Cristina Cappelletti Maria Rosaria D'Apice 3 Paolo Sbraccia 4 Giuseppe Novelli 5 Sabino Prencipe Silvia Lemma 6 Nicola Baldini Sofia Avnet Stefano Squarzoni Alberto M. Martelli 7 Giovanna Lattanzi Rizzoli Orthopedic Institute, Laboratory of Musculoskeletal Cell Biology, CNR Institute for Molecular Genetics, Unit Bologna, Italy Neurology IV - Neuroimmunology and Neuromuscular Disorders, Foundation IRCCS Neurological "Carlo Besta",...
A 40-y-old woman with severe acute respiratory syndrome coronavirus 2 infection developed neurologic manifestations (confusion, agitation, seizures, dyskinesias, and parkinsonism) a few weeks after the onset of syndrome. MRI cerebrospinal fluid analyses were unremarkable, but <sup>18</sup>F-FDG PET/CT showed limbic extralimbic hypermetabolism. full recovery, alongside normalization in previously hypermetabolic areas, was observed intravenous immunoglobulin administration.
The idiopathic inflammatory myopathies (IIMs) dermatomyositis, polymyositis, and inclusion body myositis are characterized by myofiber degeneration inflammation. triggering factors of muscle autoaggression in these disorders unknown, but infiltrating T cells may be activated locally proliferate situ. T-cell polarization involving reorientation cytoskeleton microtubule-organizing centers mediated motor proteins occur within the muscle. We therefore analyzed ubiquitous neuronal kinesin...
Laminopathies are a heterogeneous group of diseases, caused by mutations in lamin A/C proteins. The most common laminopathy (LMNA-related myopathies, LMNA-RM) affects skeletal and cardiac muscles; muscle histopathology is variable, ranging from mild unspecific changes to dystrophic features, sometimes with inflammatory evidence. Whether the genetic defect might activate innate immune components, leading chronic inflammation, myofiber necrosis fibrosis, still unknown. By qPCR, significant...
We aimed to verify whether the immune system may represent a source of potential biomarkers for stratification immune-mediated necrotizing myopathies (IMNMs) subtypes. A group 22 patients diagnosed with IMNM [7 autoantibodies against signal recognition particle (SRP) and 15 3-hydroxy-3-methyl-glutaryl-coenzyme reductase (HMGCR)] 12 controls were included. significant preponderance M1 macrophages was observed in both SRP+ HMGCR+ muscle samples (p < 0.0001 p = 0.0316 ), higher values 0.01)....
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease caused by an abnormal (GCN) triplet expansion within the polyadenylate-binding protein nuclear 1 gene and consequent mRNA processing impairment myogenic defects. Because reduced cell proliferation potential regeneration failure of aging have been shown to be governed lethal-7 (let-7) microRNA-mediated mechanisms, in present study, we evaluated role let-7 pathogenesis OPMD. By multidisciplinary approach, including conf...
A 45-year-old Italian woman, affected by relapsing-remitting multiple sclerosis (RR-MS) starting from 2011, started treatment with alemtuzumab in July 2016. Nine months after the second infusion, she had an immune thrombocytopenic purpura (ITP) complete recovery steroid treatment. Three ITP, patient presented transient aphasia, cognitive deficits, and focal epilepsy. Serial brain magnetic resonance imaging showed a pattern compatible encephalitis. Autoantibodies to glutamate receptor 3...
Laminopathies are a wide and heterogeneous group of rare human diseases caused by mutations the LMNA gene or related nuclear envelope genes. The variety clinical phenotypes spectrum histopathological changes among patients carrying an identical mutation in make prognostic process rather difficult, classical genetic screens appear to have limited predictive value for disease development. aim this study was evaluate whether comprehensive profile circulating cytokines may be useful tool...