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  1. Artikel ; Online: Ischaemic cerebral small vessel disease caused by adenosine deaminase 2 deficiency syndrome.

    Giossi, Alessia / Giliani, Silvia Clara / Gamba, Massimo / Toniati, Paola / Magoni, Mauro / Pezzini, Alessandro

    European journal of neurology

    2023  Band 30, Heft 4, Seite(n) 1148–1151

    Abstract: Background and purpose: Only a small proportion of cerebral small vessel disease (cSVD), a frequent cause of stroke and cognitive or motor disability in adults, is attributable to monogenic conditions. The hereditary nature of a patient's cSVD may be ... ...

    Abstract Background and purpose: Only a small proportion of cerebral small vessel disease (cSVD), a frequent cause of stroke and cognitive or motor disability in adults, is attributable to monogenic conditions. The hereditary nature of a patient's cSVD may be masked by a mild or non-informative phenotype, as single-gene disorders have a variable mode of presentation, penetrance and disease severity.
    Case description: An adult patient is here described with recurrent acute ischaemic strokes due to cSVD with no other phenotypic manifestation, in whom the pathogenic c.139G>A (p.G47R) missense variant in ADA2 (NM_001282225.2), consistent with the diagnosis of adenosine deaminase 2 deficiency syndrome, was detected by targeted next-generation sequencing.
    Conclusions: Clinical suspicion of adenosine deaminase 2 deficiency syndrome may be overlooked in stroke patients in whom other specific disease features are lacking. This case enlarges the mode of presentation of the syndrome and highlights the diagnostic potential of next-generation sequencing of known cSVD genes in young adults with recurrent small subcortical infarcts presenting with a lacunar syndrome.
    Mesh-Begriff(e) Humans ; Adenosine Deaminase/genetics ; Disabled Persons ; Motor Disorders ; Cerebral Small Vessel Diseases ; Ischemia ; Stroke ; Syndrome
    Chemische Substanzen Adenosine Deaminase (EC 3.5.4.4)
    Sprache Englisch
    Erscheinungsdatum 2023-02-07
    Erscheinungsland England
    Dokumenttyp Case Reports ; Research Support, Non-U.S. Gov't
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.15708
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Novel Therapies in Takayasu Arteritis.

    Regola, Francesca / Uzzo, Martina / Toniati, Paola / Trezzi, Barbara / Sinico, Renato Alberto / Franceschini, Franco

    Frontiers in medicine

    2022  Band 8, Seite(n) 814075

    Abstract: Takayasu Arteritis (TAK) is a large-vessel vasculitis that preferentially involves the aorta and its primary branches. Cardiac involvement is frequent in TAK and is a major determinant of the patient's outcome. Glucocorticoids (GC) are the mainstay of ... ...

    Abstract Takayasu Arteritis (TAK) is a large-vessel vasculitis that preferentially involves the aorta and its primary branches. Cardiac involvement is frequent in TAK and is a major determinant of the patient's outcome. Glucocorticoids (GC) are the mainstay of therapy for TAK, with high doses of GC effective to induce remission. However, relapses are common and lead to repeated and prolonged GC treatments with high risk of related adverse events. Potential GC toxicity is a major concern, especially because patients with TAK are young and need to be treated for several years, often for the whole life. Conventional immunosuppressive drugs are used in patients with severe manifestations but present some limitations. New therapeutic approaches are needed for patients with refractory disease or contraindications to conventional therapies. Fortunately, major progress has been made in understanding TAK pathogenesis, leading to the development of targeted biotherapies. In particular, IL-6 and TNF-α pathways seems to be the most promising therapeutic targets, with emerging data on Tocilizumab and TNF inhibitors. On the other hand, new insights on JAK-Inhibitors, Rituximab, Ustekinumab and Abatacept have been explored in recent studies. This review summarizes the emerging therapies used in TAK, focusing on the most recent studies on biologics and analyzing their efficacy and safety.
    Sprache Englisch
    Erscheinungsdatum 2022-01-12
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2775999-4
    ISSN 2296-858X
    ISSN 2296-858X
    DOI 10.3389/fmed.2021.814075
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Novel Therapies in Takayasu Arteritis

    Francesca Regola / Martina Uzzo / Paola Toniati / Barbara Trezzi / Renato Alberto Sinico / Franco Franceschini

    Frontiers in Medicine, Vol

    2022  Band 8

    Abstract: Takayasu Arteritis (TAK) is a large-vessel vasculitis that preferentially involves the aorta and its primary branches. Cardiac involvement is frequent in TAK and is a major determinant of the patient's outcome. Glucocorticoids (GC) are the mainstay of ... ...

    Abstract Takayasu Arteritis (TAK) is a large-vessel vasculitis that preferentially involves the aorta and its primary branches. Cardiac involvement is frequent in TAK and is a major determinant of the patient's outcome. Glucocorticoids (GC) are the mainstay of therapy for TAK, with high doses of GC effective to induce remission. However, relapses are common and lead to repeated and prolonged GC treatments with high risk of related adverse events. Potential GC toxicity is a major concern, especially because patients with TAK are young and need to be treated for several years, often for the whole life. Conventional immunosuppressive drugs are used in patients with severe manifestations but present some limitations. New therapeutic approaches are needed for patients with refractory disease or contraindications to conventional therapies. Fortunately, major progress has been made in understanding TAK pathogenesis, leading to the development of targeted biotherapies. In particular, IL-6 and TNF-α pathways seems to be the most promising therapeutic targets, with emerging data on Tocilizumab and TNF inhibitors. On the other hand, new insights on JAK-Inhibitors, Rituximab, Ustekinumab and Abatacept have been explored in recent studies. This review summarizes the emerging therapies used in TAK, focusing on the most recent studies on biologics and analyzing their efficacy and safety.
    Schlagwörter Takayasu Arteritis ; novel therapies ; bDMARDs ; biologics ; heart ; Medicine (General) ; R5-920
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2022-01-01T00:00:00Z
    Verlag Frontiers Media S.A.
    Dokumenttyp Artikel ; Online
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  4. Artikel: Novel Targets for Drug Use in Eosinophilic Granulomatosis With Polyangiitis.

    Uzzo, Martina / Regola, Francesca / Trezzi, Barbara / Toniati, Paola / Franceschini, Franco / Sinico, Renato Alberto

    Frontiers in medicine

    2021  Band 8, Seite(n) 754434

    Abstract: Eosinophilic Granulomatosis with Polyangiitis (EGPA) is a rare autoimmune disease characterized by medium and small vessels inflammation. Cardiac vasculitic involvement is one of the most severe manifestations with a significant impact on patients' long- ... ...

    Abstract Eosinophilic Granulomatosis with Polyangiitis (EGPA) is a rare autoimmune disease characterized by medium and small vessels inflammation. Cardiac vasculitic involvement is one of the most severe manifestations with a significant impact on patients' long-term prognosis: anyway, a specific therapeutic approach for heart involvement in EGPA has not been explored yet. Current regimen consists of a long-term therapy with high dose of glucocorticoids, causing the well-known related-adverse events; immunosuppressive drugs are used in patients with severe manifestations, with some limitations. New therapeutic approaches are needed for patients with refractory disease or contraindications to conventional therapies. The quest for the ideal therapy is going toward a more and more personalized approach: on the one hand, efforts are made to use already existing therapies in the most appropriate way; on the other hand, new insights into EGPA pathogenesis allow the discovery of new targets, as demonstrated by mepolizumab and rituximab, targeting eosinophils, and B-cell compartments. This review summarizes the emerging therapies used in EGPA, focusing on the most recent studies on biologics and analyzing their efficacy and safety.
    Sprache Englisch
    Erscheinungsdatum 2021-11-02
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2775999-4
    ISSN 2296-858X
    ISSN 2296-858X
    DOI 10.3389/fmed.2021.754434
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Why not to use colchicine in COVID-19? An oldanti-inflammatory drug for a novel auto-inflammatory disease.

    Piantoni, Silvia / Patroni, Andrea / Toniati, Paola / Furloni, Roberto / Franceschini, Franco / Andreoli, Laura / Scarsi, Mirko

    Rheumatology (Oxford, England)

    2020  Band 59, Heft 7, Seite(n) 1769–1770

    Mesh-Begriff(e) Betacoronavirus ; COVID-19 ; Colchicine ; Coronavirus Infections ; Humans ; Pandemics ; Pneumonia, Viral ; SARS-CoV-2
    Chemische Substanzen Colchicine (SML2Y3J35T)
    Schlagwörter covid19
    Sprache Englisch
    Erscheinungsdatum 2020-07-02
    Erscheinungsland England
    Dokumenttyp Letter ; Comment
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/keaa217
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  6. Artikel ; Online: Novel Targets for Drug Use in Eosinophilic Granulomatosis With Polyangiitis

    Martina Uzzo / Francesca Regola / Barbara Trezzi / Paola Toniati / Franco Franceschini / Renato Alberto Sinico

    Frontiers in Medicine, Vol

    2021  Band 8

    Abstract: Eosinophilic Granulomatosis with Polyangiitis (EGPA) is a rare autoimmune disease characterized by medium and small vessels inflammation. Cardiac vasculitic involvement is one of the most severe manifestations with a significant impact on patients' long- ... ...

    Abstract Eosinophilic Granulomatosis with Polyangiitis (EGPA) is a rare autoimmune disease characterized by medium and small vessels inflammation. Cardiac vasculitic involvement is one of the most severe manifestations with a significant impact on patients' long-term prognosis: anyway, a specific therapeutic approach for heart involvement in EGPA has not been explored yet. Current regimen consists of a long-term therapy with high dose of glucocorticoids, causing the well-known related-adverse events; immunosuppressive drugs are used in patients with severe manifestations, with some limitations. New therapeutic approaches are needed for patients with refractory disease or contraindications to conventional therapies. The quest for the ideal therapy is going toward a more and more personalized approach: on the one hand, efforts are made to use already existing therapies in the most appropriate way; on the other hand, new insights into EGPA pathogenesis allow the discovery of new targets, as demonstrated by mepolizumab and rituximab, targeting eosinophils, and B-cell compartments. This review summarizes the emerging therapies used in EGPA, focusing on the most recent studies on biologics and analyzing their efficacy and safety.
    Schlagwörter Eosinophilic Granulomatosis with Polyangiitis ; heart involvement ; novel therapies ; biologics ; rituximab ; mepolizumab ; Medicine (General) ; R5-920
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2021-11-01T00:00:00Z
    Verlag Frontiers Media S.A.
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  7. Artikel ; Online: Long-term treatment with tocilizumab in giant cell arteritis: efficacy and safety in a monocentric cohort of patients.

    Regola, Francesca / Cerudelli, Elisabetta / Bosio, Giovanni / Andreoli, Laura / Tincani, Angela / Franceschini, Franco / Toniati, Paola

    Rheumatology advances in practice

    2020  Band 4, Heft 2, Seite(n) rkaa017

    Abstract: Objective: The efficacy of tocilizumab (TCZ) in GCA is supported by two randomized controlled studies, in which TCZ allowed remission to be achieved after 52 weeks of treatment. However, after discontinuation of treatment, half of the patients relapsed. ...

    Abstract Objective: The efficacy of tocilizumab (TCZ) in GCA is supported by two randomized controlled studies, in which TCZ allowed remission to be achieved after 52 weeks of treatment. However, after discontinuation of treatment, half of the patients relapsed. The aim of this study was to analyse the efficacy and safety of long-term treatment with TCZ and the role of fluorodeoxyglucose (FDG)-PET/CT scanning in the follow-up of these patients.
    Methods: We collected the clinical data of a monocentric cohort of GCA patients retrospectively.
    Results: Thirty-two patients were treated with TCZ [25 males and 7 females; age = 74 (59-81) years]. Most of them achieved and maintained clinical remission (1 month: 69%; 3 months: 91%; 6 months: 96%; 12 months: 100%), with serological and FDG-PET/CT scan improvement and a reduction of concomitant glucocorticoid therapy. Nineteen patients were treated for >52 weeks, and in 13 of them a dose tapering was performed, whereas in 2 cases TCZ was suspended for disease remission. Only two patients relapsed: one during TCZ tapering and one after TCZ discontinuation. Ten cases of mild infections and a case of urinary sepsis were reported; in patients treated for >1 year there was no increase in the incidence of side effects compared with patients treated for <12 months.
    Conclusion: In our cohort of patients, we confirmed the efficacy of TCZ in the induction and maintenance of remission of GCA, demonstrating an important steroid-sparing effect and a good safety profile. Long-term treatment seems to prevent relapse of the disease, suggesting that TCZ treatment can be continued for >52 weeks with efficacy and safety.
    Sprache Englisch
    Erscheinungsdatum 2020-05-15
    Erscheinungsland England
    Dokumenttyp Journal Article
    ISSN 2514-1775
    ISSN (online) 2514-1775
    DOI 10.1093/rap/rkaa017
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel: Why not to use colchicine in COVID-19? An oldanti-inflammatory drug for a novel auto-inflammatory disease

    Piantoni, Silvia / Patroni, Andrea / Toniati, Paola / Furloni, Roberto / Franceschini, Franco / Andreoli, Laura / Scarsi, Mirko

    Rheumatology (Oxford)

    Schlagwörter covid19
    Verlag WHO
    Dokumenttyp Artikel
    Anmerkung WHO #Covidence: #32472681
    Datenquelle COVID19

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  9. Artikel ; Online: Why not to use colchicine in COVID-19? An oldanti-inflammatory drug for a novel auto-inflammatory disease

    Piantoni, Silvia / Patroni, Andrea / Toniati, Paola / Furloni, Roberto / Franceschini, Franco / Andreoli, Laura / Scarsi, Mirko

    Rheumatology

    2020  Band 59, Heft 7, Seite(n) 1769–1770

    Schlagwörter Pharmacology (medical) ; Rheumatology ; covid19
    Sprache Englisch
    Verlag Oxford University Press (OUP)
    Erscheinungsland uk
    Dokumenttyp Artikel ; Online
    ZDB-ID 1464822-2
    ISSN 1462-0332 ; 1462-0324
    ISSN (online) 1462-0332
    ISSN 1462-0324
    DOI 10.1093/rheumatology/keaa217
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  10. Artikel ; Online: Eosinophilic granulomatosis with polyangiitis onset in severe asthma patients on monoclonal antibodies targeting type 2 inflammation: Report from the European EGPA study group.

    Caminati, Marco / Fassio, Angelo / Alberici, Federico / Baldini, Chiara / Bello, Federica / Cameli, Paolo / Conticini, Edoardo / Cottin, Vincent / Crimi, Claudia / Dagna, Lorenzo / Delvino, Paolo / Deroux, Alban / Duran, Emine / Espigol-Frigole, Georgina / Karadag, Omer / Maule, Matteo / Moiseev, Sergey / Monti, Sara / Moroni, Luca /
    Padoan, Roberto / Pugnet, Gregory / Taille, Camille / Toniati, Paola / Vaglio, Augusto / Emmi, Giacomo

    Allergy

    2023  Band 79, Heft 2, Seite(n) 516–519

    Mesh-Begriff(e) Humans ; Antibodies, Monoclonal ; Churg-Strauss Syndrome/diagnosis ; Granulomatosis with Polyangiitis ; Asthma/diagnosis ; Inflammation
    Chemische Substanzen Antibodies, Monoclonal
    Sprache Englisch
    Erscheinungsdatum 2023-10-31
    Erscheinungsland Denmark
    Dokumenttyp Letter
    ZDB-ID 391933-x
    ISSN 1398-9995 ; 0105-4538
    ISSN (online) 1398-9995
    ISSN 0105-4538
    DOI 10.1111/all.15934
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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