41 results on '"Matteo Marini"'
Search Results
2. 82 - A randomized controlled trial on the efficacy of binaural beats in reducing anxiety and pain levels in patients undergoing conventional urodynamic study. Preliminary data and perspectives
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Francesca Vedovo, Jacopo Leonardo Martini, Carmelo Morreale, Matteo Balzarro, Emanuele Rubilotta, Matteo Marini, Paolo Capogrosso, Lisa Di Blas, and Carlo Trombetta
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Diseases of the genitourinary system. Urology ,RC870-923 - Published
- 2023
- Full Text
- View/download PDF
3. Role of 18F-FDG PET/CT Radiomics Features in the Differential Diagnosis of Solitary Pulmonary Nodules: Diagnostic Accuracy and Comparison between Two Different PET/CT Scanners
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Domenico Albano, Roberto Gatta, Matteo Marini, Carlo Rodella, Luca Camoni, Francesco Dondi, Raffaele Giubbini, and Francesco Bertagna
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18F-FDG PET/CT ,radiomics ,texture analysis ,solitary pulmonary nodule ,lung cancer ,Medicine - Abstract
The aim of this retrospective study was to investigate the ability of 18 fluorine-fluorodeoxyglucose positron emission tomography/CT (18F-FDG-PET/CT) metrics and radiomics features (RFs) in predicting the final diagnosis of solitary pulmonary nodules (SPN). We retrospectively recruited 202 patients who underwent a 18F-FDG-PET/CT before any treatment in two PET scanners. After volumetric segmentation of each lung nodule, 8 PET metrics and 42 RFs were extracted. All the features were tested for significant differences between the two PET scanners. The performances of all features in predicting the nature of SPN were analyzed by testing three classes of final logistic regression predictive models: two were built/trained through exploiting the separate data from the two scanners, and the other joined the data together. One hundred and twenty-seven patients had a final diagnosis of malignancy, while 64 were of a benign nature. Comparing the two PET scanners, we found that all metabolic features and most of RFs were significantly different, despite the cross correlation being quite similar. For scanner 1, a combination between grey level co-occurrence matrix (GLCM), histogram, and grey-level zone length matrix (GLZLM) related features presented the best performances to predict the diagnosis; for scanner 2, it was GLCM and histogram-related features and metabolic tumour volume (MTV); and for scanner 1 + 2, it was histogram features, standardized uptake value (SUV) metrics, and MTV. RFs had a significant role in predicting the diagnosis of SPN, but their accuracies were directly related to the scanner.
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- 2021
- Full Text
- View/download PDF
4. Designing Robust API Monitoring Solutions.
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Daniele Cono D'Elia, Simone Nicchi, Matteo Mariani, Matteo Marini, and Federico Palmaro
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- 2023
- Full Text
- View/download PDF
5. Designing Robust API Monitoring Solutions.
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Simone Nicchi, Matteo Mariani, Matteo Marini, Federico Palmaro, and Daniele Cono D'Elia
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- 2020
6. Role of 18F-FDG PET/CT Radiomics Features in the Differential Diagnosis of Solitary Pulmonary Nodules: Diagnostic Accuracy and Comparison between Two Different PET/CT Scanners
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Francesco Dondi, Roberto Gatta, Luca Camoni, Domenico Albano, Matteo Marini, Raffaele Giubbini, Francesco Bertagna, and Carlo Rodella
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18F-FDG PET/CT ,Scanner ,PET-CT ,Solitary pulmonary nodule ,medicine.diagnostic_test ,business.industry ,solitary pulmonary nodule ,Standardized uptake value ,General Medicine ,medicine.disease ,Article ,lung cancer ,Radiomics ,Positron emission tomography ,radiomics ,Histogram ,Medicine ,Differential diagnosis ,business ,Nuclear medicine ,texture analysis - Abstract
The aim of this retrospective study was to investigate the ability of 18 fluorine-fluorodeoxyglucose positron emission tomography/CT (18F-FDG-PET/CT) metrics and radiomics features (RFs) in predicting the final diagnosis of solitary pulmonary nodules (SPN). We retrospectively recruited 202 patients who underwent a 18F-FDG-PET/CT before any treatment in two PET scanners. After volumetric segmentation of each lung nodule, 8 PET metrics and 42 RFs were extracted. All the features were tested for significant differences between the two PET scanners. The performances of all features in predicting the nature of SPN were analyzed by testing three classes of final logistic regression predictive models: two were built/trained through exploiting the separate data from the two scanners, and the other joined the data together. One hundred and twenty-seven patients had a final diagnosis of malignancy, while 64 were of a benign nature. Comparing the two PET scanners, we found that all metabolic features and most of RFs were significantly different, despite the cross correlation being quite similar. For scanner 1, a combination between grey level co-occurrence matrix (GLCM), histogram, and grey-level zone length matrix (GLZLM) related features presented the best performances to predict the diagnosis, for scanner 2, it was GLCM and histogram-related features and metabolic tumour volume (MTV), and for scanner 1 + 2, it was histogram features, standardized uptake value (SUV) metrics, and MTV. RFs had a significant role in predicting the diagnosis of SPN, but their accuracies were directly related to the scanner.
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- 2021
- Full Text
- View/download PDF
7. Protein Expression of Canine and Feline Muscular Dystrophies
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Carlo Cantile, Claudia Salvadori, Giuliano Tomelleri, Matteo Marini, Valeria Guglielmi, and Gaetano Vattemi
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musculoskeletal diseases ,Pathology ,medicine.medical_specialty ,Emerin ,Immunofluorescence ,Cat Diseases ,Muscular Dystrophies ,Dysferlin ,Dystrophin ,Caveolin-3 ,calpain-3 ,caveolin-3 ,dystrophin ,myopathology ,β-sarcoglycan ,Dogs ,Western blot ,Sarcoglycans ,medicine ,Animals ,Dog Diseases ,Small Animals ,Muscle, Skeletal ,CATS ,biology ,medicine.diagnostic_test ,business.industry ,Myopathology ,Immunohistochemistry ,Caveolin 3 ,biology.protein ,Calpain-3 ,Cats ,Antibody ,business - Abstract
Muscular dystrophies in dogs and cats represent a heterogeneous group of inherited, sometimes congenital, but infrequently diagnosed, progressive neuromuscular disorders. A correct identification and characterization of canine and feline muscular dystrophies could increase diagnostic and treatment strategies for veterinary neurologists and could identify useful animal models for the study of human dystrophies. However, in dogs and cats, diagnosis of muscular dystrophies is challenging due to a nonspecific clinical phenotype and pathological lesions, thus is most likely underestimated. We performed immunofluorescence and Western blot techniques using a wide panel of antibodies against proteins involved in human dystrophies (dystrophin mid-rod and carboxyterminal domain, α, β, γ, and δ-sarcoglycan, α-dystroglycan, caveolin-3, emerin, merosin, dysferlin, calpain-3, spectrin epitopes), on 9 canine and 3 feline muscle biopsies characterized by myopathic changes. Dystrophin deficiency was detected in 3 dogs and 2 novel canine muscular dystrophies have been identified, characterized by deficiency of caveolin-3 and calpain-3, respectively. In 2 cats, deficiency of β-SG and carboxyterminal domain of dystrophin in all muscle fibers has been detected. Performing immunofluorescence and Western blot analyses with a wider panel of antibodies allowed a correct identification of muscular dystrophies in dogs and cats and provides a direction for subsequent targeted genetic testing.
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- 2020
8. Over Expression of NOS2 in Ragged-red Fibers from Patients with Mitochondrial Disorders due to Mutations in mtDNA
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Valeria Guglielmi, Gaetano Vattemi, Matteo Marini, and Giuliano Tomelleri
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Mitochondrial DNA ,Ragged-red fibers ,Mitochondrial disease ,Over expression ,medicine ,General Medicine ,Biology ,medicine.disease ,Molecular biology - Abstract
Mitochondrial diseases (MDs) are a group of heterogeneous disorders due to impaired oxidative phosphorylation causing defective ATP production. The histopathological hallmark is the presence ofragged-red fibers (RRFs), muscle fibers with excessive mitochondrial proliferation. Nitric oxide synthases (NOSs) are enzymes responsible of the synthesis of nitric oxide (NO), a ubiquitous signaling molecule involved in many physio-pathological processes. Three NOS isoenzymes have been identified so far including neuronal NOS (NOS1), inducible NOS (NOS2) and endothelial NOS (NOS3). Despite the expression and the subcellular localization of NOS1 and NOS3 have been previously investigated, a possible involvement of NOS2 in MDs has never been assessed. We evaluated the expression of NOS2 in muscle biopsies from 17 patients with mitochondrial respiratory chain dysfunction. Our data demonstrate that NOS2 is overexpressed in RRFs and the correspondence between NOS2 immunoreactivity and SDH staining suggests that the protein localizes to the mitochondria. Together with previous studies from the literature, these findings indicate a possible role NOSs in the pathogenic events leading to MDs
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- 2018
9. Evidence for caspase-dependent programmed cell death along with repair processes in affected skeletal muscle fibres in patients with mitochondrial disorders
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Ubaldo Armato, Cristiano Chiamulera, Ilaria Pierpaola Dal Prà, Marzia Di Chio, Gaetano Vattemi, Roberto Chignola, Giuliano Tomelleri, Anna Maria Chiarini, Matteo Marini, and Valeria Guglielmi
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0301 basic medicine ,Mitochondrial Diseases ,Mitochondrial disease ,Muscle Fibers, Skeletal ,Caspase 2 ,Caspase 3 ,Caspase 6 ,Caspase 7 ,03 medical and health sciences ,mitochondrial disorders ,medicine ,Humans ,programmed cell death ,Caspase ,satellite cells ,biology ,apoptosis ,Skeletal muscle ,General Medicine ,medicine.disease ,caspases ,Cell biology ,030104 developmental biology ,Mitochondrial respiratory chain ,medicine.anatomical_structure ,Case-Control Studies ,biology.protein - Abstract
Mitochondrial disorders are heterogeneous multisystemic disorders due to impaired oxidative phosphorylation causing defective mitochondrial energy production. Common histological hallmarks of mitochondrial disorders are RRFs (ragged red fibres), muscle fibres with abnormal focal accumulations of mitochondria. In contrast with the growing understanding of the genetic basis of mitochondrial disorders, the fate of phenotypically affected muscle fibres remains largely unknown. We investigated PCD (programmed cell death) in muscle of 17 patients with mitochondrial respiratory chain dysfunction. We documented that in affected muscle fibres, nuclear chromatin is condensed in lumpy irregular masses and cytochrome c is released into the cytosol to activate, along with Apaf-1 (apoptotic protease-activating factor 1), caspase 9 that, in turn, activates effector caspase 3, caspase 6, and caspase 7, suggesting the execution of the intrinsic apoptotic pathway. Whereas active caspase 3 underwent nuclear translocation, AIF (apoptosis-inducing factor) mainly stayed within mitochondria, into which an up-regulated Bax is relocated. The significant increase in caspase 2, caspase 3 and caspase 6 activity strongly suggest that the cell death programme is caspase-dependent and the activation of caspase 2 together with PUMA (p53 up-regulated modulator of apoptosis) up-regulation point to a role for oxidative stress in triggering the intrinsic pathway. Concurrently, in muscle of patients, the number of satellite cells was significantly increased and myonuclei were detected at different stages of myogenic differentiation, indicating that a reparative programme is ongoing in muscle of patients with mitochondrial disorders. Together, these data suggest that, in patients with mitochondrial disorders, affected muscle fibres are trapped in a mitochondria-regulated caspase-dependent PCD while repairing events take place.
- Published
- 2015
10. Acute Sarcomeric M-Line Disease Associated With ATP Synthase Subunit α Autoantibodies in Ankylosing Spondylitis
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Matteo Marini, Valeria Guglielmi, Giuliano Tomelleri, Gaetano Vattemi, Daniela Cecconi, and Giulio Fracasso
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0301 basic medicine ,Adult ,Male ,Pathology ,medicine.medical_specialty ,Myofilament ,Muscle disorder ,Mass Spectrometry ,Pathology and Forensic Medicine ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,ATP synthase subunit α ,M-line ,Myosin ,medicine ,Humans ,Biotinylation ,Spondylitis, Ankylosing ,Myopathy ,Muscle, Skeletal ,AntiTNF-α ,Ankylosing spondylitis ,agents ,Ecto-F1-ATPase ,Autoantibodies ,business.industry ,Tumor Necrosis Factor-alpha ,Muscle weakness ,Skeletal muscle ,General Medicine ,Mitochondrial Proton-Translocating ATPases ,medicine.disease ,Upper limb muscle weakness ,Microscopy, Electron ,030104 developmental biology ,medicine.anatomical_structure ,Neurology ,Neurology (clinical) ,medicine.symptom ,business - Abstract
M-line is the narrow transverse band located in the center of the sarcomeric A-band that is mainly responsible for the stabilization of myosin thick filaments. A 27-year-old male patient with a positive medical history for ankylosing spondylitis presented with one month of proximal upper limb muscle weakness associated with pain on both acromioclavicular joints. A biopsy of deltoid muscle documented the disappearance of M-line, the misalignment of myofilaments, and the loss of the distinction between the A and I bands. Complete resolution of muscle weakness occurred after one year of treatment with antiTNFα agent Etanercept. Because of the acute onset of symptoms and the recovery after immunosuppressive treatment we hypothesized that an immune-mediated mechanism was responsible for the muscle disorder. The serum IgG-mediated autoreactivity to skeletal muscle antigens resolved by bidimensional electrophoresis was assessed in the described patient and compared with that of control subjects. The comparative analysis of the immunoreactive spots revealed that ATP synthase subunit α is specifically recognized by patient's serum, suggesting that the protein might represent a putative antigenic target in the disease. This study reports an acute reversible myopathy pathologically characterized by M-line involvement and associated with serological antibodies to the subunit α of ATP synthase.
- Published
- 2018
11. Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies
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Benoit Coulombe, Giuliano Tomelleri, Émilie Fiola Masson, Gaetano Vattemi, Manuela Malatesta, Diane Forget, Matteo Marini, and Valeria Guglielmi
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Male ,Pathology ,medicine.medical_specialty ,Histology ,Protein subunit ,RNA polymerase II ,myofibrillar myopathies ,protein aggregates ,RNA polymerase II (RNAPII) ,RNA polymerase II associated proteins (RPAPs) ,Pathology and Forensic Medicine ,medicine ,Humans ,POLR2A ,Muscle, Skeletal ,Cellular localization ,biology ,General Medicine ,medicine.disease ,Molecular biology ,Cytoplasm ,biology.protein ,Female ,RNA Polymerase II ,Carrier Proteins ,Myofibril ,Central core disease ,Immunostaining ,Myopathies, Structural, Congenital - Abstract
Aims Myofibrillar myopathies (MFMs) are a group of inherited or sporadic neuromuscular disorders characterized morphologically by foci of myofibril dissolution, disintegration of the Z-disk and insoluble protein aggregates within the muscle fibres. The sequential events leading to muscle fibre damage remains largely unknown. Methods and results We investigated the expression and the cellular localization of RNA polymerase II (RNAPII)-associated proteins (RPAPs) in muscle biopsies from patients with genetically proven and sporadic MFMs. Our data demonstrated that RPAP2, and to a lesser extent GPN1/RPAP4, are accumulated focally in the cytoplasm of MFM muscle fibres in which they co-localize with POLR2A/RPB1, the largest subunit of RNAPII, and correspond to αB-cystallin deposits in distribution and staining intensity. No abnormal staining for RPAP2 has been observed in muscle of patients with central cores, minicores and neurogenic target fibres. Conclusions Together, these findings could provide new insights into the molecular pathogenesis of MFMs and suggest that RPAP2 immunostaining can be a useful diagnostic tool to depict protein aggregates in MFMs.
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- 2015
12. Bortezomib-induced muscle toxicity in multiple myeloma
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Paolo Manganotti, Dominika Nowis, V. Meneghini, Radoslaw Sadowski, Martina Tinelli, Giuliano Tomelleri, Manuela Malatesta, Laura Paoli, Gaetano Vattemi, Matteo Marini, Grzegorz M. Wilczynski, Valeria Guglielmi, Guglielmi, V., Nowis, D., Tinelli, M., Malatesta, M., Paoli, L., Marini, M., Manganotti, P., Sadowski, R., Wilczynski, G. M., Meneghini, V., Tomelleri, G., and Vattemi, G.
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Male ,X-Box Binding Protein 1 ,0301 basic medicine ,Time Factors ,Gastroenterology ,Myoblasts ,Bortezomib ,0302 clinical medicine ,Multiple myeloma ,hemic and lymphatic diseases ,Myocyte ,Prospective Studies ,Metabolic myopathy ,Cells, Cultured ,Aged, 80 and over ,Membrane Potential, Mitochondrial ,General Medicine ,Middle Aged ,Endoplasmic Reticulum Stress ,3. Good health ,Neurology ,030220 oncology & carcinogenesis ,Female ,medicine.symptom ,medicine.drug ,medicine.medical_specialty ,Proximal muscle weakness ,Antineoplastic Agents ,Proteasome inhibitors ,Pathology and Forensic Medicine ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Muscular Diseases ,Muscle toxicity ,Internal medicine ,Autophagy ,medicine ,Humans ,Myopathy ,Aged ,business.industry ,Muscle weakness ,Lipid Metabolism ,medicine.disease ,Discontinuation ,030104 developmental biology ,Gene Expression Regulation ,Neurology (clinical) ,business - Abstract
Multiple myeloma (MM) accounts for ∼13% of all hematologic malignancies. Bortezomib treatment is effective in MM, but can be complicated with neurological side effects. We describe a patient with symptomatic MM who had a reversible metabolic myopathy associated with bortezomib administration and pathologically characterized by excessive storage of lipid droplets together with mitochondrial abnormalities. In a single-center prospective study, 14 out of 24 patients with symptomatic MM were treated with bortezomib and, among these, 7 developed muscular signs and/or symptoms. The myopathy was characterized by a proximal muscle weakness involving lower limbs and was an early complication. Complete resolution of muscle weakness occurred after treatment discontinuation. Conversely, none of the patients who received a treatment without bortezomib developed muscular symptoms. Experimental studies demonstrate that in primary human myoblasts bortezomib at low concentrations leads to excessive storage of lipid droplets together with structural mitochondrial abnormalities, recapitulating the pathologic findings observed in patient's muscle. Our data suggest that patients treated with bortezomib should be monitored for muscular signs and/or symptoms and muscle weakness should alert the clinician to the possibility of myopathy. Bortezomib-induced metabolic myopathy is a potentially reversible entity with important implications for management and treatment of patients with MM.
- Published
- 2017
13. Relapsing-remitting painful masses of the skeletal muscle
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Matteo Marini, Giuliano Tomelleri, Valeria Guglielmi, and Gaetano Vattemi
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0301 basic medicine ,medicine.medical_specialty ,Weakness ,muscle ,Neuropathology ,Palpation ,Pathology and Forensic Medicine ,03 medical and health sciences ,0302 clinical medicine ,medicine ,neuropathology ,Muscle biopsy ,medicine.diagnostic_test ,business.industry ,Skeletal muscle ,General Medicine ,histopathology ,inflammation ,Trunk ,Surgery ,030104 developmental biology ,medicine.anatomical_structure ,Relapsing remitting ,030220 oncology & carcinogenesis ,Histopathology ,medicine.symptom ,business - Abstract
A 59-year-old male patient complained, from age 36, of insidious appearance in several weeks of a circumscribed painful mass, single or multiple, under the skin with hard consistency on palpation. At first, these masses were localised on sural aspect of the legs, thereafter on arms, thighs and, occasionally, on trunk and face. They had a diameter ranging from 3 cm to 5 cm and the overlying skin tissue was normal. Pain might increase with movement causing functional limitation of the corresponding limb. In the first years, they spontaneously remitted within 2–3 months, successively in 6–7 months. Onset of these lesions was never preceded or accompanied by systemic symptoms such as fever, weakness and fatigue. A muscle biopsy was taken …
- Published
- 2019
14. Overexpression of TNF-α in mitochondrial diseases caused by mutations in mtDNA: evidence for signaling through its receptors on mitochondria
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Alessandra Meneguzzi, Matteo Marini, Nicholas R. Ferreri, Pietro Minuz, Giuliano Tomelleri, Valeria Guglielmi, Cristiano Fava, Gaetano Vattemi, Shoujin Hao, and Manuela Malatesta
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Male ,Mitochondrial DNA ,Mitochondrial Diseases ,Biopsy ,Mitochondrial disease ,Respiratory chain ,Mitochondrial diseases ,Tumor necrosis factor-α ,TNF receptor type 1 ,TNF receptor type 2 ,Mitochondria ,Free radicals ,Gene Expression ,Biology ,Mitochondrion ,DNA, Mitochondrial ,Biochemistry ,Oxidative Phosphorylation ,Physiology (medical) ,medicine ,Humans ,Receptors, Tumor Necrosis Factor, Type II ,Receptor ,Cellular localization ,Tumor Necrosis Factor-alpha ,medicine.disease ,Molecular biology ,Mitochondrial respiratory chain ,Receptors, Tumor Necrosis Factor, Type I ,Mutation ,Female ,Signal transduction ,Signal Transduction - Abstract
Mitochondrial diseases (MDs) are heterogeneous disorders due to impaired respiratory chain function causing defective ATP production. Although the disruption of oxidative phosphorylation is central to the MD pathophysiology, other factors may contribute to these disorders. We investigated the expression and the cellular localization of TNF-α and its receptors, TNFR1 and TNFR2, in muscle biopsies from 15 patients with mitochondrial respiratory chain dysfunction. Our data unambiguously demonstrate that TNF-α is expressed in muscle fibers with abnormal focal accumulations of mitochondria, so-called ragged red fibers, and is delivered to mitochondria where both receptors are localized. Moreover TNF receptors are differentially regulated in patients' muscle in which the expression levels of TNFR1 mRNA are decreased and those of TNFR2 mRNA are increased compared with controls. These findings suggest for the first time that TNF-α could exert a direct effect on mitochondria via its receptors.
- Published
- 2013
15. La cooperazione di successo in Calabria
- Author
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Scognamiglio, Sonia and Matteo, Marini
- Published
- 2016
16. Adult-Onset Muscular Dystrophy in a Cat associated with a Presumptive Alteration in Trafficking of Caveolin-3
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Claudia Salvadori, Matteo Marini, Carlo Cantile, Gaetano Vattemi, A.E. Utrilla, E. Bocchese, and Giuliano Tomelleri
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muscular dystrophy ,Pathology ,medicine.medical_specialty ,caveolin-3 ,Caveolin 3 ,Ovariectomy ,Sarcoplasm ,cat ,neuromuscular disease ,Biology ,Cat Diseases ,Pathology and Forensic Medicine ,Muscle hypertrophy ,Necrosis ,Fatal Outcome ,Sarcolemma ,Myofibrils ,Perimysial ,medicine ,Animals ,Muscular dystrophy ,Muscle, Skeletal ,Muscle biopsy ,General Veterinary ,medicine.diagnostic_test ,Rimmed vacuoles ,Muscular Dystrophy, Animal ,medicine.disease ,Cats ,Female ,ITGA7 - Abstract
A 10-year-old neutered female domestic longhaired cat was referred for evaluation of forelimb weakness and lameness. There was hypertrophy and firmness of the musculature with no neurological deficits. Moderate increase of creatine kinase activity was present. Muscle biopsy showed rounded atrophic and hypertrophic fibres, an increased number of centrally located myofibre nuclei, scattered rimmed vacuoles and mild perimysial and endomysial fibrosis. Myofibre necrosis with phagocytosis was present in the gluteal muscle. Immunohistochemistry revealed absence of sarcolemmal caveolin-3 in almost all muscle fibres and sarcoplasmic accumulation of the protein in approximately 30% of myofibres. Normal expression of caveolin-3 was detected by immunoblotting, so protein mislocalization in the sarcoplasm due to aberrant trafficking towards the sarcolemma was suspected. This case represents the first example of muscular dystrophy due to a caveolinopathy in animals.
- Published
- 2012
17. A metabolic shift induced by a PPAR panagonist markedly reduces the effects of pathogenic mitochondrial tRNA mutations
- Author
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Xiao Wang, Matteo Marini, Tina Wenz, and Carlos T. Moraes
- Subjects
Mitochondrial Diseases ,RNA, Mitochondrial ,Mitochondrial disease ,Peroxisome Proliferator-Activated Receptors ,Peroxisome proliferator-activated receptor ,PGC-1α ,Oxidative phosphorylation ,Mitochondrion ,Gene mutation ,Biology ,PPAR ,DNA, Mitochondrial ,Oxidative Phosphorylation ,Cell Line ,Adenosine Triphosphate ,RNA, Transfer ,medicine ,Humans ,chemistry.chemical_classification ,bezafibrate ,Cell Biology ,Original Articles ,medicine.disease ,Mitochondria ,PPAR gamma ,mitochondria ,mitochondrial disease ,chemistry ,Biochemistry ,Mitochondrial biogenesis ,Protein Biosynthesis ,Transfer RNA ,Mutation ,DNAJA3 ,Molecular Medicine ,RNA - Abstract
Mutations in mitochondrial DNA-encoded tRNA genes are associated with many human diseases. Activation of peroxisome proliferator-activated receptors (PPARs) by synthetic agonists stimulates oxidative metabolism, induces an increase in mitochondrial mass and partially compensates for oxidative phosphorylation system (OXPHOS) defects caused by single OXPHOS enzyme deficiencies in vitro and in vivo. Here, we analysed whether treatment with the PPAR panagonist bezafibrate in cybrids homoplasmic for different mitochondrial tRNA mutations could ameliorate the OXPHOS defect. We found that bezafibrate treatment increased mitochondrial mass, mitochondrial tRNA steady state levels and enhanced mitochondrial protein synthesis. This improvement resulted in increased OXPHOS activity and finally in enhanced mitochondrial ATP generating capacity. PPAR panagonists are known to increase the expression of PPAR gamma coactivator-1α (PGC-1α), a master regulator of mitochondrial biogenesis. Accordingly, we found that clones of a line harbouring a mutated mitochondrial tRNA gene mutation selected for the ability to grow in a medium selective for OXPHOS function had a 3-fold increase in PGC-1α expression, an increase that was similar to the one observed after bezafibrate treatment. These findings show that increasing mitochondrial mass and thereby boosting residual OXPHOS capacity can be beneficial to an important class of mitochondrial defects reinforcing the potential therapeutic use of approaches stimulating mitochondrial proliferation for mitochondrial disorders.
- Published
- 2011
18. Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation
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Giuliano Tomelleri, Anna Russignan, Marcella Neri, Toin H. van Kuppevelt, Paola Tonin, Matteo Marini, Consuelo Poli, Gaetano Vattemi, Arie Oosterhof, Paola Rimessi, Valeria Guglielmi, Alessandra Ferlini, and Francesca Gualandi
- Subjects
Male ,Pathology ,Biopsy ,Myopathy ,DNA Mutational Analysis ,Muscle Fibers, Skeletal ,Sarcoplasm ,2-Dimensional gel electrophoresis ,ATP2A1 gene ,Brody disease ,Sarcoplasmic/endoplasmic reticulum Ca2+-ATPase 1 ,0302 clinical medicine ,Muscle Hypertonia ,0303 health sciences ,Exercise Tolerance ,medicine.diagnostic_test ,Genetic disorder ,General Medicine ,Sarcoplasmic/endoplasmic reticulum Ca ,Middle Aged ,Sarcoplasmic Reticulum ,Phenotype ,Muscle relaxation ,medicine.anatomical_structure ,Neurology ,Female ,medicine.symptom ,2+ ,ATPase 1 ,Genetic Markers ,medicine.medical_specialty ,Genotype ,Down-Regulation ,Biology ,Sarcoplasmic Reticulum Calcium-Transporting ATPases ,Pathology and Forensic Medicine ,NO ,Young Adult ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Muscular Diseases ,Internal medicine ,medicine ,Humans ,Genetic Predisposition to Disease ,Calcium Signaling ,Muscle, Skeletal ,030304 developmental biology ,Muscle biopsy ,Endoplasmic reticulum ,Skeletal muscle ,medicine.disease ,Tissue engineering and pathology [NCMLS 3] ,Enzyme Activation ,Microscopy, Electron ,Endocrinology ,Mutation ,Neurology (clinical) ,030217 neurology & neurosurgery - Abstract
Contains fulltext : 88384.pdf (Publisher’s version ) (Closed access) Brody disease is an inherited disorder of skeletal muscle function characterized by increasing impairment of relaxation during exercise. The autosomal recessive form can be caused by mutations in the ATP2A1 gene, which encodes for the sarcoplasmic/endoplasmic reticulum Ca-ATPase 1 (SERCA1) protein. We studied 2 siblings affected by Brody disease. The patients complained of exercise-induced delay of muscle relaxation and stiffness since childhood and had gene analysis of ATP2A1. Morphologic and biochemical studies were performed on a muscle biopsy from 1 patient. The biopsy showed fiber size variation and increased numbers of fibers with internal nuclei. Ultrastructural examination revealed dilatation of lateral cisternae and proliferation of tubular elements of the sarcoplasmic reticulum. By immunohistochemistry, SERCA1 was expressed in a normal pattern, but sarcoplasmic reticulum Ca-ATPase activity was significantly reduced. Immunoblotting after high-resolution 2-dimensional gel electrophoresis showed a significant difference in the amount of SERCA1 protein between the patient and controls. Both patients were found to have 2 previously unreported in-frame deletions in ATP2A1. Because SERCA1 protein has specific biochemical characteristics in our patient, these results underline the importance of a pathologic and biochemical analyses for the diagnosis. In addition, we describe 2 novel mutations in the ATP2A1 gene. 01 maart 2010
- Published
- 2010
19. Calpain 3 deficiency presenting as fibre type disproportion
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Gaetano Vattemi, Marcella Neri, Alessandra Ferlini, Matteo Marini, Francesca Gualandi, Paola Tonin, Valeria Guglielmi, and Giuliano Tomelleri
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Congenital fiber type disproportion (CFTD) ,fiber type disproportion (FTD) ,calpain 3 deficiency ,chemistry.chemical_classification ,medicine.medical_specialty ,Histology ,biology ,business.industry ,Cysteine Endopeptidases ,Disease progression ,Calpain ,Pathology and Forensic Medicine ,Endocrinology ,Enzyme ,Neurology ,Skeletal pathology ,chemistry ,Physiology (medical) ,Internal medicine ,biology.protein ,Medicine ,Neurology (clinical) ,business ,Fibre type - Published
- 2009
20. Mentalità sociale e progetti di sviluppo. Il caso della cooperazione di successo in Calabria
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Russo, Antonio, Matteo, Marini, Sonia, Scognamiglio, and Annalisa, Marini
- Published
- 2015
21. Differential regulation of TNF receptors in maternal leukocytes is associated with severe preterm preeclampsia
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Paulina L. Pedraza, G. Amen, Nicholas R. Ferreri, Matteo Marini, Shoujin Hao, Cristiano Fava, Gaetano Vattemi, Pietro Minuz, Alessandra Meneguzzi, and Giovanni Zanconato
- Subjects
Adult ,medicine.medical_specialty ,leukocytes ,Intrauterine growth restriction ,Real-Time Polymerase Chain Reaction ,Severity of Illness Index ,Preeclampsia ,preeclampsia ,Urinary levels ,Pre-Eclampsia ,Pregnancy ,Internal medicine ,TNF receptors,leukocytes,preeclampsia ,medicine ,Birth Weight ,Humans ,Receptors, Tumor Necrosis Factor, Type II ,Receptor ,TNF receptors ,Fetal Growth Retardation ,business.industry ,Infant, Newborn ,Obstetrics and Gynecology ,Differential regulation ,Middle Aged ,medicine.disease ,Cross-Sectional Studies ,Endocrinology ,Receptors, Tumor Necrosis Factor, Type I ,Case-Control Studies ,Concomitant ,Pediatrics, Perinatology and Child Health ,Female ,Tumor necrosis factor alpha ,business ,Biomarkers - Abstract
We tested the hypothesis that maternal peripheral blood leukocytes contribute to elevated levels of soluble TNF receptors (sTNFR) in preeclampsia (PE) with concomitant intrauterine growth restriction (IUGR). TNFR1 and TNFR2 were evaluated in a cross-sectional study comparing preeclamptic (n = 15) with or without IUGR versus normotensive pregnant women (PREG, n = 30), and non-pregnant controls (Con; n = 20). Plasma levels of sTNFR1 were higher in PE (1675.0 ± 227.1 pg/mL) compared with PREG (1035.0 ± 101.1 pg/mL) and Con (589.3 ± 82.67 pg/mL), with the highest values observed in PE with IUGR (2624.0 ± 421.4 pg/mL; n = 6). Plasma sTNFR2 was higher during pregnancy (PE: 1836.0 ± 198.7 pg/mL; PREG: 1697.0 ± 95.0 pg/mL) compared with Con (598.3 ± 82.7 pg/mL). Urinary levels of sTNFR1 and sTNFR2 were higher in PE and PREG compared with the Con group. Abundance of TNFR1 mRNA in peripheral blood leukocytes was strongly correlated with plasma levels of sTNFR1 in PE. However, TNFR2 mRNA accumulation in leukocytes did not correlate with sTNFR2 plasma levels. The level of sTNFR1 in plasma was correlated with body weight of the newborn (r = -0.56). The data suggest that maternal leukocytes contribute to sTNFR1 levels in plasma in association with decreasing newborn weight and PE with concomitant IUGR.
- Published
- 2015
22. SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy
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Tiziana Mongini, Giuliano Tomelleri, Paola Tonin, Laura Palmucci, Roberto L'erario, Matteo Marini, Nicolo' Rizzuto, and Gaetano Vattemi
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,inclusions ,surplus protein myopathy ,ATPase ,Sarcoplasm ,sarcoplasmic or endoplasmic reticulum calcium 1 (SERCA1) ATPase ,calsequestrin ,vacuolar myopathy ,chemistry.chemical_element ,Calcium-Transporting ATPases ,Calcium ,Calsequestrin ,Sarcoplasmic Reticulum Calcium-Transporting ATPases ,Muscular Diseases ,Internal medicine ,medicine ,Humans ,Muscle, Skeletal ,Terminal cisternae ,Myopathy ,Aged ,biology ,Endoplasmic reticulum ,Middle Aged ,musculoskeletal system ,Microscopy, Electron ,Sarcoplasmic Reticulum ,Endocrinology ,chemistry ,biology.protein ,Immunohistochemistry ,Female ,Neurology (clinical) ,medicine.symptom - Abstract
We describe four patients, from four different families, affected by a mild myopathy or asymptomatic elevated serum creatine kinase levels, in whom toluidine blue-stained semithin sections of muscle specimens revealed inclusions of different size and shape. The inclusions did not stain by routine histochemical studies. The sarcoplasmic or endoplasmic reticulum calcium 1 (SERCA1) ATPase and/or calsequestrin reactivity of inclusions, by immunohistochemistry, and the SERCA1- and calsequestrin-increased expression, by immunoblot, suggested that inclusions were constituted by an excess of proteins normally present in the terminal cisternae of sarcoplasmic reticulum. Our cases, both sporadic and familial, represent a new type of surplus protein myopathy.
- Published
- 2006
23. Circulating Monocyte Chemoattractant Protein-1 and Early Development of Nephropathy in Type 1 Diabetes
- Author
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Franco Cuccurullo, Domenico De Cesare, Sante D. Pierdomenico, Francesco Cipollone, Matteo Marini, Stefano Tumini, Mariapina Pomilio, Francesco Chiarelli, Annalisa Iezzi, Andrea Mezzetti, Mario Di Gioacchino, Angelika Mohn, and Maria Fazia
- Subjects
Adult ,medicine.medical_specialty ,Time Factors ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Nephropathy ,Reference Values ,Diabetes mellitus ,Internal medicine ,Internal Medicine ,medicine ,Albuminuria ,Humans ,Vitamin E ,Diabetic Nephropathies ,Chemokine CCL2 ,Glycemic ,Glycated Hemoglobin ,Advanced and Specialized Nursing ,Type 1 diabetes ,Proteinuria ,business.industry ,Insulin ,medicine.disease ,Cross-Sectional Studies ,Diabetes Mellitus, Type 1 ,Endocrinology ,Regression Analysis ,Microalbuminuria ,Lipid Peroxidation ,medicine.symptom ,business ,Biomarkers - Abstract
OBJECTIVES—To investigate the possible role of hyperglycemia-dependent monocyte chemoattractant protein (MCP)-1 biosynthesis in the pathophysiology of early nephropathy in type 1 diabetes.RESEARCH DESIGN AND METHODS—We studied 30 patients with type 1 diabetes (15 with and 15 without microalbuminuria) compared with matched healthy control subjects. Plasma MCP-1 and plasma oxidant status (vitamin E, fluorescent products of lipid peroxidation [FPLPs], malondialdehyde [MDA]), HbA1c, and albumin excretion rate [AER]) were evaluated at baseline. Furthermore, MCP-1, vitamin E, AER, and HbA1c were also analyzed in the microalbuminuric diabetic patients and in the healthy volunteers after 8 weeks of high-dose (600 mg b.i.d.) vitamin E treatment.RESULTS—FPLPs, MDA, and MCP-1 were significantly higher, whereas vitamin E was significantly lower in patients with microalbuminuria and poorer glycemic control as compared with normoalbuminuric patients and healthy control subjects. Plasma MCP-1 was positively correlated with HbA1c, FPLPs, MDA, and AER, whereas plasma MCP-1 showed an inverse correlation with vitamin E. Interestingly, both MCP-1 and AER decreased significantly after vitamin E treatment, despite no changes in HbA1c values.CONCLUSIONS—This study suggests that prolonged hyperglycemia may lead to early renal complications in type 1 diabetes by inducing MCP-1 biosynthesis via enhanced oxidative stress. Long-term treatment of high-dose vitamin E significantly decreased MCP-1, thus providing a rationale basis for evaluating vitamin E supplementation as therapy adjuvant to conventional insulin treatment in type 1 diabetic patients in whom an acceptable glycemic control is difficult to achieve despite appropriate insulin treatment.
- Published
- 2002
24. Polymyositis in solid organ transplant recipients receiving tacrolimus
- Author
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Giuliano Tomelleri, Matteo Marini, M. Colpani, Gaetano Vattemi, Marzia Di Chio, and Valeria Guglielmi
- Subjects
Male ,medicine.medical_specialty ,Pathology ,Biopsy ,T cells ,Antigens, Differentiation, Myelomonocytic ,chemical and pharmacologic phenomena ,Polymyositis ,Organ transplantation ,Tacrolimus ,Inflammatory myopathy ,Calcineurin inhibitors ,Antigens, CD ,medicine ,Humans ,Myopathy ,solid organ transplantation ,muscle toxicity ,MHC class I antigen ,business.industry ,Muscles ,Organ Transplantation ,Middle Aged ,medicine.disease ,ADP-ribosyl Cyclase 1 ,Calcineurin ,Granzyme B ,surgical procedures, operative ,Neurology ,Neurology (clinical) ,tacrolimus ,polymyositis ,medicine.symptom ,business ,Immunosuppressive Agents - Abstract
Tacrolimus, also known as FK506, is an immunosuppressive agent widely used for the prevention of acute allograft rejection in organ transplantation and for the treatment of immunological diseases. This study reports two male patients who underwent solid organ transplantation (liver and kidney). After transplant, the patients received continuous immunosuppressive therapy with oral tacrolimus and later presented clinical manifestations and laboratory signs of myopathy. Muscle biopsies of both patients clearly documented an inflammatory myopathy with the histological features of polymyositis including CD8 + T cells which invaded healthy muscle fibers and expressed granzyme B and perforin, many CD68 + macrophages and MHC class I antigen upregulation on the surface of most fibers. Because of the temporal association while receiving tacrolimus and since other possible causes for myopathy were excluded, the most likely cause of polymyositis in our patients was tacrolimus toxicity. We suggest that patients on tacrolimus should be carefully monitored for serum CK levels and clinical signs of muscle disease.
- Published
- 2014
25. Elevated Circulating Levels of Monocyte Chemoattractant Protein-1 in Patients With Restenosis After Coronary Angioplasty
- Author
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Andrea Mezzetti, Guido Materazzo, Maria Fazia, E. D'Annunzio, L. Paloscia, Francesco Cipollone, Annalisa Iezzi, Franco Cuccurullo, Barbara Pini, Pio Conti, Francesco Chiarelli, Marcella Reale, and Matteo Marini
- Subjects
Male ,medicine.medical_specialty ,Chemokine ,Time Factors ,medicine.medical_treatment ,Coronary Disease ,Inflammation ,Monocytes ,Pathogenesis ,Restenosis ,Recurrence ,Internal medicine ,Angioplasty ,medicine ,Humans ,Angioplasty, Balloon, Coronary ,Chemokine CCL5 ,Chemokine CCL2 ,Aged ,Analysis of Variance ,biology ,business.industry ,Monocyte ,Interleukin-8 ,Middle Aged ,medicine.disease ,Pathophysiology ,medicine.anatomical_structure ,biology.protein ,Cardiology ,Tetradecanoylphorbol Acetate ,Female ,medicine.symptom ,Reactive Oxygen Species ,Cardiology and Cardiovascular Medicine ,business ,Complication - Abstract
Abstract —Inflammation plays a pathogenic role in the development of restenosis after percutaneous transluminal coronary angioplasty (PTCA). Monocyte chemoattractant protein-1 (MCP-1) is a potent chemoattractant of monocytes; however, its role in the pathophysiology of restenosis is still unclear. We set out to investigate the role of MCP-1 in restenosis after PTCA. In addition, we tested the hypothesis that MCP-1 exerts its effect, at least in part, by inducing O 2 − generation in circulating monocytes. Plasma levels of MCP-1 were measured before and 1, 5, 15, and 180 days after PTCA in 50 patients (30 males and 20 females, aged 62±5 years) who underwent PTCA and who had repeated angiograms at 6-month follow-up. Restenosis occurred in 14 (28%) patients. The MCP-1 level was no different at baseline between patients with or without restenosis. However, after the procedure, restenotic patients, compared with nonrestenotic patients, had statistically significant ( P 2 − generation. Finally, multivariate regression analysis showed that the MCP-1 plasma level measured 15 days after PTCA was the only statistically significant independent predictor of restenosis (β=0.688, P 2 − release in monocytes. Further understanding of the mechanism(s) by which MCP-1 is produced and acts after arterial injury may provide insight into therapies to limit the progression of atherosclerosis and restenosis after balloon angioplasty.
- Published
- 2001
26. SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers
- Author
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Nicol C. Voermans, Valeria Guglielmi, Elena Pegoraro, Antonio Novelli, C. Scotton, Domenico De Grandis, Bruno Dallapiccola, Alessandra Ferlini, Ernő Zádor, Marcella Neri, Arie Oosterhof, Gaetano Vattemi, Valentina Codemo, Francesca Gualandi, Baziel G.M. van Engelen, Giuliano Tomelleri, Magdolna Kósa, Toin H. van Kuppevelt, Enza Maria Valente, and Matteo Marini
- Subjects
Protein isoform ,Adult ,Male ,medicine.medical_specialty ,ATP2A1 gene ,Genotype ,Myotonia Congenita ,Endocrinology, Diabetes and Metabolism ,DCN MP - Plasticity and memory ,Sarcoplasm ,Muscle Fibers, Skeletal ,Biology ,Biochemistry ,Sarcoplasmic Reticulum Calcium-Transporting ATPases ,Tissue Culture Techniques ,Exon ,Endocrinology ,Internal medicine ,Genetics ,medicine ,Brody syndrome ,Humans ,Amino Acid Sequence ,Myopathy ,Molecular Biology ,Gene ,Brody disease ,Cells, Cultured ,Endoplasmic reticulum ,Alternative splicing ,Wild type ,Sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1) ,SERCA1 ,Infant ,Exons ,Tissue engineering and pathology [NCMLS 3] ,Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10] ,Gene Expression Regulation ,Child, Preschool ,Mutation ,Female ,medicine.symptom - Abstract
Item does not contain fulltext Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca(2+)-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody disease (BD), from patients without mutations, Brody syndrome (BS). We performed a detailed study of SERCA1 protein expression in muscle of patients with BD and BS, and evaluated the alternative splicing of SERCA1 in primary cultures of normal human muscle and in infant muscle. SERCA1 reactivity was observed in type 2 muscle fibers of patients with and without ATP2A1 mutations and staining intensity was similar in patients and controls. Immunoblot analysis showed a significant reduction of SERCA1 band in muscle of BD patients. In addition we demonstrated that the wild type and mutated protein exhibits similar solubility properties and that RIPA buffer improves the recovery of the wild type and mutated SERCA1 protein. We found that SERCA1b, the SERCA1 neonatal form, is the main protein isoform expressed in cultured human muscle fibers and infant muscle. Finally, we identified two novel heterozygous mutations within exon 3 of the ATP2A1 gene from a previously described patient with BD.
- Published
- 2013
27. Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency
- Author
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Marcella Neri, Claudio Catalli, Valeria Guglielmi, Laura Bertolasi, Giuliano Tomelleri, Alessandra Ferlini, Paola Tonin, Giuseppe Novelli, Matteo Marini, Gaetano Vattemi, and Francesca Gualandi
- Subjects
Male ,Adult ,medicine.medical_specialty ,Contraction (grammar) ,Vastus medialis ,Biopsy ,Calpain 3 deficiency, Complex repetitive discharges (CRDs), Muscle pseudohypertrophy, Adult, Biopsy, Calpain, Electromyography, Hypertrophy, Muscle Proteins, Muscular Dystrophies, Limb-Girdle, Quadriceps Muscle ,Muscle Proteins ,muscle pseudohypertrophy ,calpain 3 deficiency ,complex repetitive discharges (CRDs) ,Muscular Dystrophies ,Muscle hypertrophy ,NO ,Quadriceps Muscle ,Limb-Girdle ,Internal medicine ,Limb-girdle muscular dystrophy type 2A ,medicine ,Humans ,Complex repetitive discharges (CRDs) ,Muscle biopsy ,biology ,medicine.diagnostic_test ,business.industry ,Calpain ,Electromyography ,Muscle pseudohypertrophy ,General Medicine ,Anatomy ,Hypertrophy ,medicine.disease ,Calpain 3 deficiency ,CALPAINOPATHY ,Endocrinology ,Muscular Dystrophies, Limb-Girdle ,biology.protein ,Neurology (clinical) ,business ,Limb-girdle muscular dystrophy - Abstract
INTRODUCTION Calpain 3 deficiency causes limb girdle muscular dystrophy type 2A, which is one of the most common forms of limb girdle muscular dystrophy. Nevertheless, calpainopathy is not always associated with mutations in the specific gene and secondary reduction in protein expression has been described. CASE REPORT We report a case of a 43-year-old man who complained of thigh muscle stiffness and had muscle hypertrophy of both vastus medialis with prolonged myotonic contraction by percussion. A muscle biopsy showed dystrophic features and calpain 3 deficiency was shown by immunoblot analysis although mutations in the specific gene were not found. Known cases of secondary calpain 3 protein deficiency were ruled out and mutations in MD1 and MD2 genes were excluded. CONCLUSIONS This patient represents the first case of calpain 3 deficiency with selective pseudohypertrophy of vastus medialis muscles.
- Published
- 2012
28. Muscular dystrophy with reduced beta-sarcoglycan in a cat
- Author
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Carlo Cantile, Matteo Marini, G.D. Shelton, Gaetano Vattemi, Claudia Salvadori, and Rocco Lombardo
- Subjects
Male ,muscular dystrophy ,Pathology ,medicine.medical_specialty ,Biopsy ,Muscle Fibers, Skeletal ,cat ,Biology ,Muscular Dystrophies ,Pathology and Forensic Medicine ,Kitten ,Necrosis ,Fibrosis ,biology.animal ,Sarcoglycans ,medicine ,Animals ,Muscular dystrophy ,Muscle, Skeletal ,Muscle biopsy ,General Veterinary ,medicine.diagnostic_test ,animal model ,sarcoglycan deficiency ,medicine.disease ,Immunohistochemistry ,Sarcoglycan ,Sarcoglycanopathy ,Animals, Domestic ,Cats ,Sarcoglycanopathies - Abstract
A partial beta-sarcoglycan (SG) deficiency with retention of other components of the SG complex (SGC) is described in 6-month-old, intact male domestic shorthaired kitten that was referred for evaluation of weakness, reluctance to move and dyspnoea. Neurological deficits were restricted to the neuromuscular system. Muscle biopsy revealed moderate variability in myofibre size, with numerous atrophic rounded fibres, rare myofibre necrosis, regeneration and moderate perimysial and endomysial fibrosis. Immunohistochemistry revealed decreased expression of beta- and gamma-SG and western blotting revealed markedly decreased beta-SG with normal expression of alpha-, gamma- and delta-SG, caveolin-3 and calpain-3. Sarcoglycanopathy has not previously been described in cats. In human and canine sarcoglycanopathies the deficiency in any one of the SGs leads to secondary deficiency of the entire SGC. Such spontaneously arising muscular disease in animals can provide valuable models for equivalent human disorders.
- Published
- 2009
29. McArdle disease and sporadic inclusion-body myositis
- Author
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Matteo Marini, Paola Tonin, Giuliano Tomelleri, Mauro Scarpelli, S. Krause, Gaetano Vattemi, and Massimiliano Filosto
- Subjects
Pathology ,medicine.medical_specialty ,Histology ,MCARDLE DISEASE ,McArdle disease ,business.industry ,Sporadic Inclusion Body Myositis ,sporadic inclusion-body myositis ,vacuoles ,Pathology and Forensic Medicine ,Neurology ,Physiology (medical) ,medicine ,Neurology (clinical) ,business - Published
- 2009
30. Sarcoidosis and inclusion body myositis
- Author
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Giuliano Tomelleri, B. Dal Pra, M. L. Guadagnin, Matteo Marini, Alessandro Simonati, Gaetano Vattemi, Paola Tonin, and Massimiliano Filosto
- Subjects
medicine.medical_specialty ,Sarcoidosis ,Rheumatology ,inclusion body myositis ,business.industry ,medicine ,Pharmacology (medical) ,Inclusion body myositis ,medicine.disease ,business ,Dermatology - Published
- 2008
31. Increased circulating nitric oxide in young patients with type 1 diabetes and persistent microalbuminuria: relation to glomerular hyperfiltration
- Author
-
Stefano Tumini, F. Chiarelli, Fabrizio Costantini, Andrea Mezzetti, Francesco Cipollone, L. di Ricco, Sante D. Pierdomenico, Ferdinando Romano, Matteo Marini, Franco Cuccurullo, and M Pomilio
- Subjects
Adult ,Blood Glucose ,Male ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Renal function ,Blood Pressure ,urologic and male genital diseases ,Nitric Oxide ,Nephropathy ,Diabetic nephropathy ,Reference Values ,Internal medicine ,Diabetes mellitus ,Internal Medicine ,medicine ,Albuminuria ,Humans ,Diabetic Nephropathies ,Glycated Hemoglobin ,Type 1 diabetes ,Nitrates ,business.industry ,medicine.disease ,female genital diseases and pregnancy complications ,Endocrinology ,Diabetes Mellitus, Type 1 ,Regression Analysis ,Microalbuminuria ,Female ,medicine.symptom ,business ,Glomerular hyperfiltration ,Biomarkers ,Glomerular Filtration Rate - Abstract
Hyperglycemia has been causally linked to vascular and glomerular dysfunction by a variety of biochemical mechanisms, including a glucose-dependent abnormality in nitric oxide (NO) production and action. NO is a candidate for mediating hyperfiltration and the increased vascular permeability induced by diabetes. Serum nitrite and nitrate (NO2-+ NO3-) concentrations were assessed as an index of NO production in 30 adolescents and young adults with type 1 diabetes, 15 with and 15 without microalbuminuria (albumin excretion rate [AER] between 20 and 200 microg/min), compared with a well-balanced group of healthy control subjects. In all subjects, glomerular filtration rate (GFR) was determined by radionuclide imaging. Our study showed that NO2- + NO3- serum content and GFR values were significantly higher in microalbuminuric diabetic patients than in the other 2 groups. GFR was significantly and positively related to AER levels (r2 = 0.75, P < 0.0001), whereas NO2- + NO3- serum content was independently associated with both AER and GFR values (beta = 2.086, P = 0.05, beta = 1.273, P = 0.0085, respectively), suggesting a strong link between circulating NO, glomerular hyperfiltration, and microalbuminuria in young type 1 diabetic patients with early nephropathy. Interestingly, mean HbA1c, serum concentration was significantly higher in microalbuminuric than in normoalbuminuric diabetic subjects (P < 0.05) and was independently associated with AER values, suggesting a role for chronic hyperglycemia in the genesis of diabetic nephropathy. Moreover, HbA1c serum concentration was significantly and positively related to NO2 + NO3 serum content (r2 = 0.45, P = 0.0063) and GFR values (r2 = 0.57, P = 0.0011), suggesting that chronic hyperglycemia may act through a mechanism that involves increased NO generation and/or action. In conclusion, we suggest that in young type 1 diabetic patients with early nephropathy, chronic hyperglycemia is associated with an increased NO biosynthesis and action that contributes to generating glomerular hyperfiltration and persistent microalbuminuria.
- Published
- 2000
32. M.P.3.13 Vascular endothelium involvement in mitochondrial diseases
- Author
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L. Grigoli, Matteo Marini, Nicolo' Rizzuto, Gaetano Vattemi, Paola Tonin, Giuliano Tomelleri, Alessandra Meneguzzi, D. Benedetti, Massimiliano Filosto, Alessandro Lechi, M. Degan, and P. Minuz
- Subjects
Vascular endothelium ,Pathology ,medicine.medical_specialty ,Neurology ,business.industry ,Pediatrics, Perinatology and Child Health ,medicine ,Neurology (clinical) ,business ,Genetics (clinical) - Published
- 2007
33. Increased Protein Nitration in Mitochondrial Diseases: Evidence for Vessel Wall Involvement
- Author
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Alessandro Lechi, Gaetano Vattemi, Marzia Di Chio, Giuliano Tomelleri, Maurizio Degan, Pietro Minuz, Matteo Marini, Iveta Klouckova, Laura Grigoli, Cristiano Chiamulera, Yehia Mechref, Valeria Guglielmi, Paola Tonin, Guido Arcaro, Milos V. Novotny, Laura Lovato, Vincenzo Tedesco, and Alessandra Meneguzzi
- Subjects
Male ,Mitochondrial Diseases ,Brachial Artery ,Respiratory chain ,Kearns-Sayre Syndrome ,Vasodilation ,Nitric Oxide Synthase Type I ,Deafness ,Mitochondrion ,medicine.disease_cause ,Biochemistry ,Muscle, Smooth, Vascular ,Analytical Chemistry ,chemistry.chemical_compound ,MELAS Syndrome ,Sequence Deletion ,Nitric Oxide Synthase Type III ,Middle Aged ,Femoral Artery ,medicine.anatomical_structure ,Female ,Protein nitration ,Adult ,Muscle tissue ,medicine.medical_specialty ,Adolescent ,Oxidative phosphorylation ,Biology ,Nitric oxide ,Internal medicine ,medicine ,Humans ,Point Mutation ,Muscle, Skeletal ,Molecular Biology ,Aged ,Base Sequence ,Research ,Vessel wall involvement ,MERRF Syndrome ,Endocrinology ,Diabetes Mellitus, Type 2 ,chemistry ,Case-Control Studies ,Tyrosine ,Endothelium, Vascular ,Mitochondrial diseases ,Oxidative stress - Abstract
Mitochondrial diseases (MD) are heterogeneous disorders because of impairment of respiratory chain function leading to oxidative stress. We hypothesized that in MD the vascular endothelium may be affected by increased oxidative/nitrative stress causing a reduction of nitric oxide availability. We therefore, investigated the pathobiology of vasculature in MD patients by assaying the presence of 3-nitrotyrosine in muscle biopsies followed by the proteomic identification of proteins which undergo tyrosine nitration. We then measured the flow-mediated vasodilatation as a proof of altered nitric oxide generation/bioactivity. Here, we show that 3-nitrotyrosine staining is specifically located in the small vessels of muscle tissue and that the reaction is stronger and more evident in a significant percentage of vessels from MD patients as compared with controls. Eleven specific proteins which are nitrated under pathological conditions were identified; most of them are involved in energy metabolism and are located mainly in mitochondria. In MD patients the flow-mediated vasodilatation was reduced whereas baseline arterial diameters, blood flow velocity and endothelium-independent vasodilatation were similar to controls. The present results provide evidence that in MD the vessel wall is a target of increased oxidative/nitrative stress.
- Published
- 2011
34. C.P.1.02 Clinical and histopathological evolution of a calpain-3 deficiency presenting as congenital fiber type disproportion
- Author
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Gaetano Vattemi, Matteo Marini, Giuliano Tomelleri, Paola Rimessi, Alessandra Ferlini, Massimiliano Filosto, Francesca Gualandi, and Paola Tonin
- Subjects
Pathology ,medicine.medical_specialty ,biology ,business.industry ,Calpain ,Congenital fiber type disproportion ,medicine.disease ,Neurology ,Pediatrics, Perinatology and Child Health ,biology.protein ,Medicine ,Neurology (clinical) ,business ,Genetics (clinical) - Published
- 2007
35. Circulating nitric oxide levels in sustained and white coat hypertension
- Author
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Matteo Marini, A. Bucci, Francesco Cipollone, Andrea Mezzetti, Sante D. Pierdomenico, and Franco Cuccurullo
- Subjects
medicine.medical_specialty ,business.industry ,White coat hypertension ,medicine.disease ,Obesity ,Nitric oxide ,chemistry.chemical_compound ,Endocrinology ,Nitrate ,chemistry ,Internal medicine ,Diabetes mellitus ,Internal Medicine ,Medicine ,business - Published
- 2001
36. Role of soluble CD40L in the vascular complications in hypertensive patients
- Author
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Fabrizio Costantini, Sante D. Pierdomenico, Francesco Cipollone, Annalisa Iezzi, Franco Cuccurullo, Andrea Mezzetti, Domenico De Cesare, Barbara Pini, Maria Fazia, and Matteo Marini
- Subjects
medicine.medical_specialty ,business.industry ,Coronary arteriosclerosis ,Inflammation ,Tunica intima ,Gastroenterology ,Surgery ,Blood pressure ,medicine.anatomical_structure ,Intima-media thickness ,Great vessels ,Internal medicine ,Internal Medicine ,medicine ,Platelet ,Soluble cd40l ,medicine.symptom ,business - Published
- 2001
37. Relationship between monocyte chemoattractant protein-1 and restenosis after coronary angioplasty
- Author
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Andrea Mezzetti, M. Torello, Francesco Cipollone, Guido Materazzo, Matteo Marini, Franco Cuccurullo, Francesco Chiarelli, L. Paloscia, Maria Fazia, and E. D'Annunzio
- Subjects
medicine.medical_specialty ,Restenosis ,business.industry ,Internal medicine ,Angioplasty ,medicine.medical_treatment ,medicine ,Cardiology ,Cardiology and Cardiovascular Medicine ,medicine.disease ,business ,Monocyte chemoattractant protein - Published
- 2000
38. The effect of active breaks on cognitive performance and classroom behaviour: the I-move study
- Author
-
Masini Alice, Ricci Matteo, Marini Sofia, Ceciliani Andrea, Barone Giuseppe, Gori Davide, Bragonzoni Laura, Sansavini Alessandra, Tessari Alessia, Dallolio Laura, and Masini Alice , Ricci Matteo, Marini Sofia, Ceciliani Andrea, Barone Giuseppe, Gori Davide, Bragonzoni Laura, Sansavini Alessandra, Tessari Alessia, Dallolio Laura
- Subjects
Active break ,Public Health, Environmental and Occupational Health ,Physical Activity ,Children - Abstract
Background Active Breaks (ABs) intervention involves short bouts of moderate to vigorous physical activity (MVPA) conducted during or between curricular lessons by the appropriately trained teachers. The aim of the Imola Active Breaks Study (I-MOVE study) was to evaluate the effect of an ABs intervention on cognitive function and classroom behaviour in primary school children. Methods The study was quasi-experimental, and it involved two groups attending a primary school in Imola (Bologna, Italy). The Active Breaks group (ABsG) performed the I-MOVE protocol consisting in 10 minutes of ABs divided in warm up, tone-up with high intensity interval training and cool-down. This is repeated three times a day for one year and half. The control group (CG) continued with regular lessons. The baseline assessment was conducted in October 2019 and the follow-up in May 2021. Cognitive performance was assessed using working memory test and classroom behaviour was monitored using an “ad hoc questionnaire”. Results Working memory performance increased significantly more in the ABsG (change: 1.30±1.17) than in CG (0.96±1.20), p < 0.05. Almost the entire sample of the children wanted to continue with this intervention in the next following year. Children reported improvements in their school-life quality, including feeling better in class (75.40%) and in school (82.50%) when using ABs. Improvements were also reported in children time-on-task behaviours: 52.90% said they work easily in class, 52.90% that they could listen more clearly, 58.80% reported they can stay seated easily, and 59.60% that they learned better and were more focused after ABs. Conclusions In conclusion the program has proven to be very effective on the children's cognitive improvement and classroom behaviour. Since the ABs intervention demonstrates these positive effects, its implementation in schools can have a beneficial, sustainable and long-term impact on childhood health. Key messages • ABs intervention represents a cost-effective strategy to be implemented in the school settings regardless of the age and sex differences, to make the school a more dynamic environment. • Despite the pandemic difficulties, the ABs intervention proved to be sustainable, and to have a positive effect on classroom behaviour by improving children’s concentration and attention in class.
- Published
- 2022
39. L’esperienza della Politica delle Reti nel Mezzogiorno
- Author
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Ivan Cucco, Alessandro De Iudicibus, Sara Moccia, Cucco I., de Iudicibus A. e Moccia S., Matteo Marini, Cucco, Ivan, DE IUDICIBUS, Alessandro, and Moccia, Sara
- Published
- 2017
40. Riflessioni sulla governance dei fondi strutturali in Italia
- Author
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CASULA M, Matteo Marini, and CASULA M
- Subjects
N.A - Abstract
N.A.
- Published
- 2017
41. Debito pubblico, spesa regionale e corruzione: il caso italiano
- Author
-
Cantabene Claudia, CLAUDIA CANTABENE, ALFREDO DEL MONTE, Matteo Marini, and Cantabene, Claudia
- Published
- 2017
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