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712 results on '"DI MINNO, matteo nicola dario"'

2. Real-world clinical and psychosocial outcomes among people with mild or moderate haemophilia A treated on-demand in the Italian CHESS II cohort: a real-world data analysis

Author

Castaman Giancarlo, Mancuso Maria Elisa, Di Minno Matteo Nicola Dario, Sannino Luigi, Tempre Rosaria, Bendinelli Sara, Blenkiron Tom, Burke Tom, and Grazzi Enrico Ferri

Subjects
haemophilia a, annual bleeding rate, joint arthropathy, pain, patient-reported outcomes, health-related quality of life, psychosocial burden, Diseases of the blood and blood-forming organs, RC633-647.5
Abstract

The burden of severe haemophilia A (HA) has been studied extensively owing to the higher bleeding frequency and associated treatment requirements, leaving a clear unmet need for research focused on the burden of mild and moderate HA.

Published
2024
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7. Pathogenesis of osteoarthritis, rheumatoid arthritis, and hemophilic arthropathy: The role of angiogenesis.

Author

Caliogna, Laura, Berni, Micaela, Torriani, Camilla, Mancuso, Maria Elisa, Di Minno, Matteo Nicola Dario, Brancato, Alice Maria, Jannelli, Eugenio, Mosconi, Mario, and Pasta, Gianluigi

Subjects
RHEUMATOID arthritis, JOINT diseases, PHYSIOLOGY, SYNOVITIS, OSTEOARTHRITIS
Abstract

Introduction: The term 'chronic inflammatory arthritis' (IA) can be used to define a group of heterogeneous diseases in which inflammation of the synovium is the common feature while having different pathogenesis and clinical outcomes. This condition can be found in osteoarthritis (OA), rheumatoid arthritis (RA), and hemophilic arthropathy (HA). Aim: The objective is to try to highlight similarities and differences in the three pathological conditions and understand both molecular and physiological mechanisms. Method: We have carried out a systematic review of the available literature following the guidelines Preferred Reporting Items for Systematic Reviews and Meta‐analysis (PRISMA). Results: By comparing the data in the literature on OA, RA, and HA we have shown that the three pathologies differ in initial etiology but they motivate the same molecular pathways. Conclusion: In this review we highlighted the similarities and differences between these diseases, creating ideas for future studies both in vivo and in vitro to develop new therapeutic agents and suggest possible biomarkers to follow the evolution and severity of the disease. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Assessment of Platelet Aggregation and Thrombin Generation in Patients with Familial Chylomicronemia Syndrome Treated with Volanesorsen: A Cross-Sectional Study.

Author

Calcaterra, Ilenia Lorenza, Santoro, Renata, Vitelli, Nicoletta, Cirillo, Ferdinando, D'Errico, Guido, Guerrino, Cornelia, Cardiero, Giovanna, Di Taranto, Maria Donata, Fortunato, Giuliana, Iannuzzo, Gabriella, and Di Minno, Matteo Nicola Dario

Subjects
BLOOD platelet aggregation, PLATELET count, THROMBIN, APOLIPOPROTEIN C, BLOOD platelets
Abstract

Background: The antisense oligonucleotide against APOC3 mRNA volanesorsen was recently introduced to treat Familial Chylomicronemia Syndrome (FCS). Cases of decreased platelet count are reported among patients treated with volanesorsen. The aim of the study was to evaluate platelet function and thrombin generation (TG) assessment in FCS patients receiving volanesorsen. We performed a cross-sectional study on FCS patients treated with volanesorsen. Methods: Changes in platelet count PLC were assessed from baseline to Tw12 and Tw36. To assess TG, samples were processed by CAT (with PPP-reagent LOW). The results were expressed by the thrombogram graphic (thrombin variation over time); LagTime; endogenous thrombin potential (ETP); peak; time to reach peak (ttpeak), StartTail and Velocity Index. Platelet aggregation was assessed by testing different agonists using the turbidimetry method. Results: Four FCS patients and four matched healthy controls were included in the present study. Changes in PLC were 30% at Tw12 and 34% at Tw36. Thrombin generation results showed values in the normal range (for patients and controls, respectively, LagTime:10.42 ± 4.40 and 9.25 ± 0.99; ttPeak:14.33 ± 4.01 and 13.10 ± 0.67; StartTail: 32.13 ± 3.54 and 29.46 ± 1.69; Velocity Index: 20.21 ± 3.63 and 33.05 ± 13.21; ETP: 599.80 ± 73.47 and 900.2 ± 210.99; peak value: 76.84 ± 1.07 and 123.30 ± 39.45) and no significant difference between cases and controls. Platelet aggregation test showed values in range, with no significant difference compared to healthy controls. Conclusions: Our study showed for the first time that no significant changes in general hemostasis assessed by TG and in platelet function were observed in FCS patients receiving volanesorsen. [ABSTRACT FROM AUTHOR]

Published
2024
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22. Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia.

Author

Cardiero, Giovanna, Ferrandino, Martina, Calcaterra, Ilenia Lorenza, Iannuzzo, Gabriella, Di Minno, Matteo Nicola Dario, Buganza, Raffaele, Guardamagna, Ornella, Auricchio, Renata, Di Taranto, Maria Donata, and Fortunato, Giuliana

Subjects
FAMILIAL hypercholesterolemia, LDL cholesterol, SINGLE nucleotide polymorphisms, NUCLEOTIDE sequencing
Abstract

Background: Familial hypercholesterolemia (FH) comprises high LDL-cholesterol (LDL-c) levels and high cardiovascular disease risk. In the absence of pathogenic variants in causative genes, a polygenic basis was hypothesized. Methods: In a population of 418 patients (excluding homozygotes) with clinical suspicion of FH, the FH-causative genes and the regions of single nucleotide polymorphisms (SNPs) included in 12-SNP and 6-SNP scores were sequenced by next-generation sequencing, allowing for the detection of pathogenic variants (V+) in 220 patients. To make a comparison, only patients without uncertain significance variants (V−/USV−) were considered (n = 162). Results: Higher values of both scores were observed in V+ than in V−. Considering a cut-off leading to 80% of V−/USV− as score-positive, a lower prevalence of patients positive for both 12-SNP and 6-SNP scores was observed in V+ (p = 0.010 and 0.033, respectively). Mainly for the 12-SNP score, among V+ patients, higher LDL-c levels were observed in score-positive (223 mg/dL -IQR 187-279) than in negative patients (212 mg/dL -IQR 162–240; p = 0.006). Multivariate analysis confirmed the association of scores and LDL-c levels independently of age, sex, and presence of pathogenic variants and revealed a greater association in children. Conclusions: The 12-SNP and 6-SNP polygenic scores could explain hypercholesterolemia in patients without pathogenic variants as well as the variability of LDL-c levels among patients with FH-causative variants. [ABSTRACT FROM AUTHOR]

Published
2024
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23. The value‐based healthcare approach to haemophilia: Development of outcome measures for the evaluation of care of people with haemophilia.

Author

Cortesi, Paolo Angelo, Fornari, Carla, Conti, Sara, Pollio, Berardino, Boccalandro, Elena, Buzzi, Andrea, Carulli, Christian, Coppola, Antonio, De Cristofaro, Raimondo, Di Minno, Matteo Nicola Dario, Dolan, Gerard, Ferri Grazzi, Enrico, Fornari, Arianna, Gualtierotti, Roberta, Hermans, Cedric, Jiménez‐Juste, Victor, Kenet, Gili, Lupi, Angelo, Martinoli, Carlo, and Mansueto, Maria Francesca

Subjects
VALUE-based healthcare, HEMOPHILIA, HEMOPHILIA treatment, CARE of people, PATIENT reported outcome measures
Abstract

Introduction: Considering the advances in haemophilia management and treatment observed in the last decades, a new set of value‐based outcome indicators is needed to assess the quality of care and the impact of these medical innovations. Aim: The Value‐Based Healthcare in Haemophilia project aimed to define a set of clinical outcome indicators (COIs) and patient‐reported outcome indicators (PROIs) to assess quality of care in haemophilia in high‐income countries with a value‐based approach to inform and guide the decision‐making process. Methods: A Value‐based healthcare approach based on the available literature, current guidelines and the involvement of a multidisciplinary group of experts was applied to generate a set of indicators to assess the quality of care of haemophilia. Results: A final list of three COIs and five PROIs was created and validated. The identified COIs focus on two domains: musculoskeletal health and function, and safety. The identified PROIs cover five domains: bleeding frequency, pain, mobility and physical activities, Health‐Related Quality of Life and satisfaction. Finally, two composite outcomes, one based on COIs, and one based on PROIs, were proposed as synthetic outcome indicators of quality of care. Conclusion: The presented standard set of health outcome indicators provides the basis for harmonised longitudinal and cross‐sectional monitoring and comparison. The implementation of this value‐based approach would enable a more robust assessment of quality of care in haemophilia, within a framework of continuous treatment improvements with potential added value for patients. Moreover, proposed COIs and PROIs should be reviewed and updated routinely. [ABSTRACT FROM AUTHOR]

Published
2024
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25. Diagnosis and treatment of chronic synovitis in patients with haemophilia: consensus statements from the Italian Association of Haemophilia Centres

Author

Di Minno, Matteo Nicola Dario, Napolitano, Mariasanta, Giuffrida, Anna Chiara, Baldacci, Erminia, Carulli, Christian, Boccalandro, Elena, Bruno, Clarissa, Forneris, Eleonora, Ricca, Irene, Passeri, Walter, Martinelli, Marco, Rivolta, Gianna Franca, Solimeno, Luigi Piero, Martinoli, Carlo, Rocino, Angiola, Pasta, Gianluigi, Aru, Brigida, Balestri, Elena, Biasoli, Chiara, Cantori, Isabella, Coluccia, Antonella, Contino, Laura, Coppola, Antonio, Cultrera, Dorina, Daniele, Filomena, Ettorre, Cosimo Pietro, Giordano, Paola, Iannaccaro, Piergiorgio, Lassandro, Giuseppe, Linari, Silvia, Luciani, Matteo, Malcangi, Giuseppe, Mancuso, Maria Elisa, Marchesini, Emanuela, Marino, Renato, Mazucconi, Maria Gabriella, Molinari, Angelo Claudio, Notarangelo, Lucia Dora, Pasca, Samantha, Quintavalle, Gabriele, Radossi, Paolo, Raso, Simona, Sabatino, Vincenzo, Santagostino, Elena, Santoro, Cristina, Scaturro, Dalila, Zanon, Ezio, Di Minno, Matteo Nicola Dario, Napolitano, Mariasanta, Giuffrida, Anna Chiara, Baldacci, Erminia, Carulli, Christian, Boccalandro, Elena, Bruno, Clarissa, Forneris, Eleonora, Ricca, Irene, Passeri, Walter, Martinelli, Marco, Rivolta, Gianna Franca, Solimeno, Luigi Piero, Martinoli, Carlo, Rocino, Angiola, Pasta, Gianluigi, Aru, Brigida, Balestri, Elena, Biasoli, Chiara, Cantori, Isabella, Coluccia, Antonella, Contino, Laura, Coppola, Antonio, Cultrera, Dorina, Daniele, Filomena, Ettorre, Cosimo Pietro, Giordano, Paola, Iannaccaro, Piergiorgio, Lassandro, Giuseppe, Linari, Silvia, Luciani, Matteo, Malcangi, Giuseppe, Mancuso, Maria Elisa, Marchesini, Emanuela, Marino, Renato, Mazucconi, Maria Gabriella, Molinari, Angelo Claudio, Notarangelo, Lucia Dora, Pasca, Samantha, Quintavalle, Gabriele, Radossi, Paolo, Raso, Simona, Sabatino, Vincenzo, Santagostino, Elena, Santoro, Cristina, Scaturro, Dalila, Zanon, Ezio, and Matteo Nicola Dario Di Minno, Mariasanta Napolitano, Anna Chiara Giuffrida, Erminia Baldacci, Christian Carulli, Elena Boccalandro, Clarissa Bruno, Eleonora Forneris, Irene Ricca, Walter Passeri, Marco Martinelli, Gianna Franca Rivolta, Luigi Piero Solimeno, Carlo Martinoli, Angiola Rocino, Gianluigi Pasta, Dalila Scaturro

Subjects
haemophilia, haemophilic arthropathy, synovitis, Chronic Disease, Consensus, Hemophilia A, Humans, Italy, Synovitis, haemophilia, haemophilic arthropathy, synovitis, Hematology
Abstract

Although synovitis is recognized as a marker of joint disease activity, its periodic assessment is not included in routine clinical surveillance of patients with haemophilia (PwH). In order to evaluate the current knowledge and to identify controversial issues, a preliminary literature search by the Musculoskeletal Committee of the Italian Association of Haemophilia Centres (AICE) has been conducted. Statements have been established and sent to the Italian AICE members to collect their level of agreement or disagreement by a Delphi process. Thirty-seven consensus recommendations have been drafted. We found a general agreement on the indication to consider the presence of synovitis as a marker of joint disease activity in PwH. Accordingly, there was agreement on the indication to search for synovitis both in patients reporting joint pain and in asymptomatic ones, recognizing ultrasound as the most practical imaging technique to perform periodic joint screening. Interestingly, after detection of synovitis, there was agreement on the indication to modify the therapeutic approach, suggesting prophylaxis in patients treated on demand and tailoring treatment in patients already under prophylaxis. Whereas the need of an early consultation with a physiotherapist is recommended for PwH affected by chronic synovitis, the exact timing for an orthopaedic surgeon consultation is currently unknown.

Published
2021
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43. Clinical assessment of endothelial function in convalescent COVID-19 patients: a meta-analysis with meta-regressions

Author

Ambrosino, Pasquale, primary, Sanduzzi Zamparelli, Stefano, additional, Mosella, Marco, additional, Formisano, Roberto, additional, Molino, Antonio, additional, Spedicato, Giorgio Alfredo, additional, Papa, Antimo, additional, Motta, Andrea, additional, Di Minno, Matteo Nicola Dario, additional, and Maniscalco, Mauro, additional

Published
2022
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