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1. Certolizumab pegol en artritis reumatoidea severa. Evidencia de la vida real en una cohorte Argentina: logro de objetivos (t2t) a 3 meses y factores predictivos.

Author

Garcia Salinas R, Magri S, and Ruta A

Subjects
rheumatoid arthritis, treat-to-target, anti-tnf, remission, Medicine (General), R5-920, Diseases of the musculoskeletal system, RC925-935
Abstract

Introduction: Certolizumab pegol (CTZ) is a tumor necrosis factor-alpha (TNF-α) inhibitor biological agent that has demonstrated efficacy in controlling rheumatoid arthritis (RA). Identifying predictive factors for treatment success and assessing its effectiveness in a real-world clinical setting are crucial for decision-making. Objective: To evaluate the response to CTZ in patients with RA in a real-world cohort, measuring the reduction in DAS 28, HAQ, frequency of remission, and low disease activity (LDA) at three months, identifying predictive factors, and evaluating the reduction in the use of corticosteroids. Methods: A prospective real-world observational study included patients over 18 years of age with RA (ACR/EULAR 2010 criteria) who initiated CTZ and were followed for three months. Demographic, clinical, comorbidity, treatment, and disease activity data were recorded. Results: Out of 2092 RA patients treated with CTZ between 2016 and 2021, 90% had a poor prognosis, and 60% had high disease activity. Among 1673 patients followed for three months, a reduction in DAS 28 (-1.9) and HAQ (-0.63) was observed. At three months, 10.5% achieved remission, and 40% achieved LDA. Predictive factors for remission included age (OR: 0.97) and DAS 28 (OR: 0.58); for LDA, age (OR: 0.97), DAS 28 (OR: 0.61), first-line CTZ (OR: 1.6), and HAQ (OR: 0.61). Additionally, there was a reduction in the use of glucocorticoids (-3.1 mg prednisone). Conclusions: CTZ is effective in RA, emphasizing patient selection and an early treatment approach. This study supports the efficacy of CTZ

Published
2024
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2. POS0280 EFFECTIVENESS OF METHOTREXATE AND LEFLUNOMIDE AS CORTICOID-SPARING DRUGS IN PATIENTS WITH POLYMYALGIA RHEUMATICA

Author

Vinicki, J. P., primary, Cusa, A., additional, Domingo, D., additional, Velasco Zamora, J. L., additional, Magri, S. J., additional, Brigante, J. A., additional, Schmid, M., additional, Andrea Avila, P., additional, Zamora, N., additional, Sorrentino, L., additional, Rodriguez, A., additional, Linarez, M., additional, Pisoni, C., additional, Costi, C., additional, Rodriguez Gil, G. F., additional, Spinetto, M. A., additional, Paris, U. V., additional, Perrotta, N. A., additional, Maliandi, M. D. R., additional, Rillo, O., additional, Pena, C., additional, Got, J., additional, Cavallasca, J., additional, Machado Escobar, M., additional, Iturralde, C., additional, Martire, M. V., additional, Tessel, R., additional, Saravia, K. N., additional, and Alarcón, G. S., additional

Published
2024
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3. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

Author

Cunha, P., Petit, E., Coutelier, M., Coarelli, G., Mariotti, C., Faber, J., Gaalen, J. van, Damasio, J., Fleszar, Z., Tosi, M., Rocca, C., Michele, G. de, Minnerop, M., Ewenczyk, C., Santorelli, F.M., Heinzmann, A., Bird, T., Amprosi, M., Indelicato, E., Benussi, A., Charles, P., Stendel, C., Romano, S, Scarlato, M., Ber, I. Le, Bassi, M.T., Serrano, M., Schmitz-Hübsch, T., Doss, S., Velzen, G.A.J. Van, Thomas, Q., Trabacca, A., Ortigoza-Escobar, J.D., D'Arrigo, S., Timmann, D., Pantaleoni, C., Martinuzzi, A., Besse-Pinot, E., Marsili, L., Cioffi, E., Nicita, F., Giorgetti, A., Moroni, I., Romaniello, R., Casali, C., Ponger, P., Casari, G., Bot, S.T. de, Ristori, G., Blumkin, L., Borroni, B., Goizet, C., Marelli, C., Boesch, S., Anheim, M., Filla, A., Houlden, H., Bertini, E., Klopstock, T., Synofzik, M., Riant, F., Zanni, G., Magri, S., Bella, D. Di, Nanetti, L., Sequeiros, J., Oliveira, J., Warrenburg, B. Van de, Schöls, L., Taroni, F., Brice, A., Durr, A., Cunha, P., Petit, E., Coutelier, M., Coarelli, G., Mariotti, C., Faber, J., Gaalen, J. van, Damasio, J., Fleszar, Z., Tosi, M., Rocca, C., Michele, G. de, Minnerop, M., Ewenczyk, C., Santorelli, F.M., Heinzmann, A., Bird, T., Amprosi, M., Indelicato, E., Benussi, A., Charles, P., Stendel, C., Romano, S, Scarlato, M., Ber, I. Le, Bassi, M.T., Serrano, M., Schmitz-Hübsch, T., Doss, S., Velzen, G.A.J. Van, Thomas, Q., Trabacca, A., Ortigoza-Escobar, J.D., D'Arrigo, S., Timmann, D., Pantaleoni, C., Martinuzzi, A., Besse-Pinot, E., Marsili, L., Cioffi, E., Nicita, F., Giorgetti, A., Moroni, I., Romaniello, R., Casali, C., Ponger, P., Casari, G., Bot, S.T. de, Ristori, G., Blumkin, L., Borroni, B., Goizet, C., Marelli, C., Boesch, S., Anheim, M., Filla, A., Houlden, H., Bertini, E., Klopstock, T., Synofzik, M., Riant, F., Zanni, G., Magri, S., Bella, D. Di, Nanetti, L., Sequeiros, J., Oliveira, J., Warrenburg, B. Van de, Schöls, L., Taroni, F., Brice, A., and Durr, A.

Abstract

Contains fulltext : 294768.pdf (Publisher’s version ) (Closed access), Although the best-known spinocerebellar ataxias (SCAs) are triplet repeat diseases, many SCAs are not caused by repeat expansions. The rarity of individual non-expansion SCAs, however, has made it difficult to discern genotype-phenotype correlations. We therefore screened individuals who had been found to bear variants in a non-expansion SCA-associated gene through genetic testing, and after we eliminated genetic groups that had fewer than 30 subjects, there were 756 subjects bearing single-nucleotide variants or deletions in one of seven genes: CACNA1A (239 subjects), PRKCG (175), AFG3L2 (101), ITPR1 (91), STUB1 (77), SPTBN2 (39), or KCNC3 (34). We compared age at onset, disease features, and progression by gene and variant. There were no features that reliably distinguished one of these SCAs from another, and several genes-CACNA1A, ITPR1, SPTBN2, and KCNC3-were associated with both adult-onset and infantile-onset forms of disease, which also differed in presentation. Nevertheless, progression was overall very slow, and STUB1-associated disease was the fastest. Several variants in CACNA1A showed particularly wide ranges in age at onset: one variant produced anything from infantile developmental delay to ataxia onset at 64 years of age within the same family. For CACNA1A, ITPR1, and SPTBN2, the type of variant and charge change on the protein greatly affected the phenotype, defying pathogenicity prediction algorithms. Even with next-generation sequencing, accurate diagnosis requires dialogue between the clinician and the geneticist.

Published
2023

4. The practical management of chronic constipation as detected by a survey conducted on Italian gastroenterologists

Author

Fabbri, Carlo, Spada, Cristiano, Aragona, S. E., Ciprandi, Guido, Alberico, G., Antoniazzi, S., Arrigoni, A., Astegiano, M., Astretto, S., Baroni, S., Battaglia, E., Belcari, C., Beretta, P., Bianchetti, Maddalena, Bianchi, M. L., Bindi, B., Buda, C., Camilleri, S., Caronna, S., Cautela, G., Cavallaro, Fabio, Cocco, A., Colucci, R., Consalvo, D., Cordone, G., Cortelezzi, C., Cozzoli, G., Curro, E. A., Damiani, Andrea, D'Amore, F., De Falco, P., De Girolamo, Maria Vittoria, De Luca, L., Di Lorenzo, F., Di Marzo, S., Di Nardo, G., Ferrara, M., Fiaccavento, R., Fina, D., Frasca, R., Gallo, M., Gennarelli, N., Ghittoni, G., Giangregorio, F., Giannetti, A., Giglio, L. A., Giuncato, S., Grosso, S., Iannuzziello, D., Ibba, I., Incarbone, S., La Spada, S., Lagoussis, P., Lecca, G., Leonardi, G., Licari, G., Lucia, Mothanje Barbara Patricia, Lupinacci, G., Magri, S., Oppezzi, M., Paiano, P., Palombo, V., Pardocchi, D., Parodi, A., Pati, A., Petrini, C., Pinto, A., Pirrotta, P., Piscopo, A., Polimeni, N., Preatoni, P., Quintigliano, D., Radice, E., Ricco, G., Rodella, Luigi Fabrizio, Schettino, M., Schettino, Paola, Schicchi, A. A., Schiffino, L., Severi, C., Sinagra, E., Tarantello, M., Valeri, Giovanni, Vanni, R., Vinti, M., Zulli, C., Fabbri C., Spada C. (ORCID:0000-0002-5692-0960), Ciprandi G., Bianchetti M., Cavallaro F., Damiani A., De Girolamo V., Lucia M. (ORCID:0000-0001-7648-2198), Rodella L., Schettino P., Valeri G., Fabbri, Carlo, Spada, Cristiano, Aragona, S. E., Ciprandi, Guido, Alberico, G., Antoniazzi, S., Arrigoni, A., Astegiano, M., Astretto, S., Baroni, S., Battaglia, E., Belcari, C., Beretta, P., Bianchetti, Maddalena, Bianchi, M. L., Bindi, B., Buda, C., Camilleri, S., Caronna, S., Cautela, G., Cavallaro, Fabio, Cocco, A., Colucci, R., Consalvo, D., Cordone, G., Cortelezzi, C., Cozzoli, G., Curro, E. A., Damiani, Andrea, D'Amore, F., De Falco, P., De Girolamo, Maria Vittoria, De Luca, L., Di Lorenzo, F., Di Marzo, S., Di Nardo, G., Ferrara, M., Fiaccavento, R., Fina, D., Frasca, R., Gallo, M., Gennarelli, N., Ghittoni, G., Giangregorio, F., Giannetti, A., Giglio, L. A., Giuncato, S., Grosso, S., Iannuzziello, D., Ibba, I., Incarbone, S., La Spada, S., Lagoussis, P., Lecca, G., Leonardi, G., Licari, G., Lucia, Mothanje Barbara Patricia, Lupinacci, G., Magri, S., Oppezzi, M., Paiano, P., Palombo, V., Pardocchi, D., Parodi, A., Pati, A., Petrini, C., Pinto, A., Pirrotta, P., Piscopo, A., Polimeni, N., Preatoni, P., Quintigliano, D., Radice, E., Ricco, G., Rodella, Luigi Fabrizio, Schettino, M., Schettino, Paola, Schicchi, A. A., Schiffino, L., Severi, C., Sinagra, E., Tarantello, M., Valeri, Giovanni, Vanni, R., Vinti, M., Zulli, C., Fabbri C., Spada C. (ORCID:0000-0002-5692-0960), Ciprandi G., Bianchetti M., Cavallaro F., Damiani A., De Girolamo V., Lucia M. (ORCID:0000-0001-7648-2198), Rodella L., Schettino P., and Valeri G.

Abstract

BACKGROUND: Chronic constipation represents a widespread medical condition, mainly in elderly people. The management is compelling as these patients frequently have comorbidity and polypharmacy. Polyethylene glycol (PEG) is commonly used but does not resolve some complaints, mainly concerning pain and bloating. Therefore, a new medical device containing PEG plus simethicone, an antifoaming agent, has been developed. The present survey explored its use in clinical practice. METHODS: A group of 64 Italian gastroenterologists visited 2426 patients with chronic primary constipation. In about two/third, gastroenterologists freely prescribed the new medical device, and in the remaining patients, other treatments were freely chosen by doctors. Patients were followed up for three months. The number of evacuations, stool characteristics, patients’ perception of illness assessed by VAS, frequency of patients with pain and intestinal symptoms, and discontinuing patients was observed during the experience. RESULTS: The new medical device was significantly better than other therapies in improving all parameters (P<0.05 for all parameters). CONCLUSIONS: The present survey demonstrated that a new medical device containing PEG plus simethicone represents a favorable option in managing patients with chronic primary constipation as significantly and safely improves intestinal transit, reduces stool consistency, reduces symptom severity, and is highly satisfactory.

Published
2023

6. Hypomyelinating leukodystrophies in adults: Clinical and genetic features

Author

Di Bella, D, Magri, S, Benzoni, C, Farina, L, Maccagnano, C, Sarto, E, Moscatelli, M, Baratta, S, Ciano, C, Piacentini, S, Draghi, L, Mauro, E, Pareyson, D, Gellera, C, Taroni, F, Salsano, E, Di Bella D., Magri S., Benzoni C., Farina L., Maccagnano C., Sarto E., Moscatelli M., Baratta S., Ciano C., Piacentini S. H. M. J., Draghi L., Mauro E., Pareyson D., Gellera C., Taroni F., Salsano E., Di Bella, D, Magri, S, Benzoni, C, Farina, L, Maccagnano, C, Sarto, E, Moscatelli, M, Baratta, S, Ciano, C, Piacentini, S, Draghi, L, Mauro, E, Pareyson, D, Gellera, C, Taroni, F, Salsano, E, Di Bella D., Magri S., Benzoni C., Farina L., Maccagnano C., Sarto E., Moscatelli M., Baratta S., Ciano C., Piacentini S. H. M. J., Draghi L., Mauro E., Pareyson D., Gellera C., Taroni F., and Salsano E.

Abstract

Background and purpose: Little is known about hypomyelinating leukodystrophies (HLDs) in adults. The aim of this study was to investigate HLD occurrence, clinical features, and etiology among undefined leukoencephalopathies in adulthood. Methods: We recruited the patients with cerebral hypomyelinating magnetic resonance imaging pattern (mild T2 hyperintensity with normal or near-normal T1 signal) from our cohort of 62 adult index cases with undefined leukoencephalopathies, reviewed their clinical features, and used a leukoencephalopathy-targeted next generation sequencing panel. Results: We identified 25/62 patients (~40%) with hypomyelination. Cardinal manifestations were spastic gait and varying degree of cognitive impairment. Etiology was determined in 44% (definite, 10/25; likely, 1/25). Specifically, we found pathogenic variants in the POLR3A (n = 2), POLR1C (n = 1), RARS1 (n = 1), and TUBB4A (n = 1) genes, which are typically associated with severe early-onset HLDs, and in the GJA1 gene (n = 1), which is associated with oculodentodigital dysplasia. Duplication of a large chromosome X region encompassing PLP1 and a pathogenic GJC2 variant were found in two patients, both females, with early-onset HLDs persisting into adulthood. Finally, we found likely pathogenic variants in PEX3 (n = 1) and PEX13 (n = 1) and potentially relevant variants of unknown significance in TBCD (n = 1), which are genes associated with severe, early-onset diseases with central hypomyelination/dysmyelination. Conclusions: A hypomyelinating pattern characterizes a relevant number of undefined leukoencephalopathies in adulthood. A comprehensive genetic screening allows definite diagnosis in about half of patients, and demonstrates the involvement of many disease-causing genes, including genes associated with severe early-onset HLDs, and genes causing peroxisome biogenesis disorders.

Published
2021

8. AB0511 SYSTEMIC LUPUS ERYTHEMATOSUS DISEASE ACTIVITY SCORE (SLE- DAS) VALIDATION IN ARGENTINIAN PATIENTS

Author

Pera, M., primary, Barbaglia, A. L., additional, Sueldo, H. R., additional, Gonzalez Lucero, L., additional, Corbalán, P. M., additional, Bertolaccini, M. C., additional, Espasa, G. V., additional, Leguizamón, M. L., additional, Galindo, L. M., additional, Ornella, S., additional, Garcia, L., additional, Scafati, J., additional, Cosentino, M., additional, Papasidero, S., additional, Dapeña, J. M., additional, Medina, M. A., additional, Scolnik, M., additional, Fernández-Ávila, D., additional, Pisoni, C., additional, Cosatti, M., additional, Rebak, J., additional, Sorrentino, L., additional, Magri, S. J., additional, Gobbi, C., additional, Matellan, C. E., additional, and Bellomio, V. I., additional

Published
2022
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9. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Author

Nanetti, L, Di Bella, D, Magri, S, Fichera, M, Sarto, E, Castaldo, A, Mongelli, A, Baratta, S, Fenu, S, Moscatelli, M, Bonati, M, Martinuzzi, A, Mariotti, C, Taroni, F, Nanetti, Lorenzo, Di Bella, Daniela, Magri, Stefania, Fichera, Mario, Sarto, Elisa, Castaldo, Anna, Mongelli, Alessia, Baratta, Silvia, Fenu, Silvia, Moscatelli, Marco, Bonati, Maria Teresa, Martinuzzi, Andrea, Mariotti, Caterina, Taroni, Franco, Nanetti, L, Di Bella, D, Magri, S, Fichera, M, Sarto, E, Castaldo, A, Mongelli, A, Baratta, S, Fenu, S, Moscatelli, M, Bonati, M, Martinuzzi, A, Mariotti, C, Taroni, F, Nanetti, Lorenzo, Di Bella, Daniela, Magri, Stefania, Fichera, Mario, Sarto, Elisa, Castaldo, Anna, Mongelli, Alessia, Baratta, Silvia, Fenu, Silvia, Moscatelli, Marco, Bonati, Maria Teresa, Martinuzzi, Andrea, Mariotti, Caterina, and Taroni, Franco

Abstract

A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver—Mc Farlane, and Laurence—Moon syndromes. These syndromes present variable and overlapping clinical symptoms, encompassing cerebellar ataxia, hypogonadotropic hypogonadism, chorioretinal dystrophy, spastic paraplegia, muscle wasting, peripheral neuropathy, and cognitive impairment. In the present study, we performed a wide genetic screening in 292 patients presenting with ataxia or spastic paraplegia using a probe-based customized gene panel, covering >200 genes associated with spinocerebellar diseases. We identified six novel and four recurrent PNPLA6 gene variants in eight patients (2.7%). Six patients presented an infantile or juvenile onset (age <18), and two patients had an adult onset. Cerebellar ataxia was observed in seven patients and spastic paraplegia in one patient. Progression of cerebellar symptoms was slow in all patients, who retained ambulation even after a mean disease duration of 15 years. Brain MRI showed cerebellar atrophy in 6/8 patients, more pronounced in superior and dorsal vermis lobules (I to VII). Additional clinical features included hypogonadotropic hypogonadism (5/8), growth hormone deficiency (2/8), peripheral axonal neuropathy (4/8), cognitive impairment (3/8), chorioretinal dystrophy (2/8), and bilateral vestibular areflexia with a reduced visual vestibule-ocular reflex (1/8). In accordance with previous studies, chorioretinal dystrophy was the most frequent presenting symptom in early onset patients, hypogonadotropic hypogonadism in juvenile onset cases, and cerebellar ataxia in adult patients. One patient had an initial clinical presentation compatible with Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS), but no pathological expansions in the RFC1 gene. I

Published
2022

10. Myeloid Diagnostic and Prognostic Markers of Immune Suppression in the Blood of Glioma Patients

Author

Del Bianco, P, Pinton, L, Magri, S, Canè, S, Masetto, E, Basso, D, Padovan, M, Volpin, F, D'Avella, D, Lombardi, G, Zagonel, V, Bronte, V, Della Puppa, A, and Mandruzzato, S

Subjects
Adult, Male, STAT3 Transcription Factor, Adolescent, Immunology, B7-H1 Antigen, Immunophenotyping, STAT3, myeloid-derived suppressor cell, Immunocompromised Host, Young Adult, glioma, Biomarkers, Tumor, Humans, Myeloid Cells, Original Research, Aged, Neoplasm Staging, Aged, 80 and over, Arginase, Myeloid-Derived Suppressor Cells, Liquid Biopsy, biomarkers, arginase 1 (ARG1), Middle Aged, Prognosis, Leukocytes, Mononuclear, Female, Neoplasm Grading
Abstract

Background Although gliomas are confined to the central nervous system, their negative influence over the immune system extends to peripheral circulation. The immune suppression exerted by myeloid cells can affect both response to therapy and disease outcome. We analyzed the expansion of several myeloid parameters in the blood of low- and high-grade gliomas and assessed their relevance as biomarkers of disease and clinical outcome. Methods Peripheral blood was obtained from 134 low- and high-grade glioma patients. CD14+, CD14+/p-STAT3+, CD14+/PD-L1+, CD15+ cells and four myeloid-derived suppressor cell (MDSC) subsets, were evaluated by flow cytometry. Arginase-1 (ARG1) quantity and activity was determined in the plasma. Multivariable logistic regression model was used to obtain a diagnostic score to discriminate glioma patients from healthy controls and between each glioma grade. A glioblastoma prognostic model was determined by multiple Cox regression using clinical and myeloid parameters. Results Changes in myeloid parameters associated with immune suppression allowed to define a diagnostic score calculating the risk of being a glioma patient. The same parameters, together with age, permit to calculate the risk score in differentiating each glioma grade. A prognostic model for glioblastoma patients stemmed out from a Cox multiple analysis, highlighting the role of MDSC, p-STAT3, and ARG1 activity together with clinical parameters in predicting patient’s outcome. Conclusions This work emphasizes the role of systemic immune suppression carried out by myeloid cells in gliomas. The identification of biomarkers associated with immune landscape, diagnosis, and outcome of glioblastoma patients lays the ground for their clinical use.

Published
2022

12. Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (Nature Genetics, (2020), 52, 5, (473-481), 10.1038/s41588-020-0615-4)

Author

Cortese A., Zhu Y., Rebelo A. P., Negri S., Courel S., Abreu L., Bacon C. J., Bai Y., Bis-Brewer D. M., Bugiardini E., Buglo E., Danzi M. C., Feely S. M. E., Athanasiou-Fragkouli A., Haridy N. A., Rodriguez A., Bacha A., Kosikowski A., Wood B., McCray B., Blume B., Siskind C., Sumner C., Calabrese D., Walk D., Vujovic D., Park E., Muntoni F., Donlevy G., Acsadi G., Day J., Burns J., Li J., Krajewski K., Eichinger K., Cornett K., Mullen K., Laura P. Q., Gutmann L., Barrett M., Saporta M., Skorupinska M., Grant N., Bray P., Seyedsadjadi R., Zuccarino R., Finkel R., Lewis R., Yum S., Hilbert S., Thomas S., Behrens-Spraggins S., Jones T., Lloyd T., Grider T., Estilow T., Fridman V., Isasi R., Khan A., Laura M., Magri S., Pipis M., Pisciotta C., Powell E., Rossor A. M., Saveri P., Sowden J. E., Tozza S., Vandrovcova J., Dallman J., Grignani E., Marchioni E., Scherer S. S., Tang B., Lin Z., Al-Ajmi A., Schule R., Synofzik M., Maisonobe T., Stojkovic T., Auer-Grumbach M., Abdelhamed M. A., Hamed S. A., Zhang R., Manganelli F., Santoro L., Taroni F., Pareyson D., Houlden H., Herrmann D. N., Reilly M. M., Shy M. E., Zhai R. G., Zuchner S., Cortese, A., Zhu, Y., Rebelo, A. P., Negri, S., Courel, S., Abreu, L., Bacon, C. J., Bai, Y., Bis-Brewer, D. M., Bugiardini, E., Buglo, E., Danzi, M. C., Feely, S. M. E., Athanasiou-Fragkouli, A., Haridy, N. A., Rodriguez, A., Bacha, A., Kosikowski, A., Wood, B., Mccray, B., Blume, B., Siskind, C., Sumner, C., Calabrese, D., Walk, D., Vujovic, D., Park, E., Muntoni, F., Donlevy, G., Acsadi, G., Day, J., Burns, J., Li, J., Krajewski, K., Eichinger, K., Cornett, K., Mullen, K., Laura, P. Q., Gutmann, L., Barrett, M., Saporta, M., Skorupinska, M., Grant, N., Bray, P., Seyedsadjadi, R., Zuccarino, R., Finkel, R., Lewis, R., Yum, S., Hilbert, S., Thomas, S., Behrens-Spraggins, S., Jones, T., Lloyd, T., Grider, T., Estilow, T., Fridman, V., Isasi, R., Khan, A., Laura, M., Magri, S., Pipis, M., Pisciotta, C., Powell, E., Rossor, A. M., Saveri, P., Sowden, J. E., Tozza, S., Vandrovcova, J., Dallman, J., Grignani, E., Marchioni, E., Scherer, S. S., Tang, B., Lin, Z., Al-Ajmi, A., Schule, R., Synofzik, M., Maisonobe, T., Stojkovic, T., Auer-Grumbach, M., Abdelhamed, M. A., Hamed, S. A., Zhang, R., Manganelli, F., Santoro, L., Taroni, F., Pareyson, D., Houlden, H., Herrmann, D. N., Reilly, M. M., Shy, M. E., Zhai, R. G., and Zuchner, S.

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020

13. AB0214 SURVIVAL, EFFICACY AND SAFETY OF GOLIMUMAB IN PATIENTS WITH RHEUMATOID ARTHRITIS AND SPONDYLOARTHRITIS: DATA FROM AN ARGENTINEAN COHORT

Author

Isnardi, C. A., primary, Civit De Garignani, E. E., additional, García Ciccarelli, A., additional, Sanchez Alcover, J., additional, Garcia Salinas, R., additional, Magri, S., additional, Albiero, E., additional, Gobbi, C., additional, Velozo, E., additional, Soriano, E., additional, Brom, M., additional, Zacariaz, J., additional, Strusberg, I., additional, Baravalle, M., additional, Castaños, S., additional, Morales, L., additional, Paira, S., additional, Calvo, R., additional, Ortiz, A., additional, Perez Alamino, R., additional, Maldonado Ficco, H., additional, and Citera, G., additional

Published
2021
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15. Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients

Author

Traschütz, A., Schirinzi, T., Laugwitz, L., Murray, N.H., Bingman, C.A., Reich, S., Kern, J., Heinzmann, A., Vasco, G., Bertini, E., Zanni, G., Durr, A., Magri, S., Taroni, F., Malandrini, A., Baets, J., Jonghe, P. De, Ridder, W. De, Bereau, M., Demuth, S., Ganos, C., Basak, A.N., Hanagasi, H., Kurul, S.H., Bender, B., Schöls, L., Grasshoff, U., Klopstock, T., Horvath, R., Warrenburg, B.P.C. van de, Burglen, L., Rougeot, C., Ewenczyk, C., Koenig, M., Santorelli, F.M., Anheim, M., Munhoz, R.P., Haack, T., Distelmaier, F., Pagliarini, D.J., Puccio, H., Synofzik, M., Traschütz, A., Schirinzi, T., Laugwitz, L., Murray, N.H., Bingman, C.A., Reich, S., Kern, J., Heinzmann, A., Vasco, G., Bertini, E., Zanni, G., Durr, A., Magri, S., Taroni, F., Malandrini, A., Baets, J., Jonghe, P. De, Ridder, W. De, Bereau, M., Demuth, S., Ganos, C., Basak, A.N., Hanagasi, H., Kurul, S.H., Bender, B., Schöls, L., Grasshoff, U., Klopstock, T., Horvath, R., Warrenburg, B.P.C. van de, Burglen, L., Rougeot, C., Ewenczyk, C., Koenig, M., Santorelli, F.M., Anheim, M., Munhoz, R.P., Haack, T., Distelmaier, F., Pagliarini, D.J., Puccio, H., and Synofzik, M.

Abstract

Contains fulltext : 229734.pdf (Publisher’s version ) (Open Access), OBJECTIVE: To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum of COQ8A-ataxia in a large worldwide cohort, and provide first progression data, including treatment response to coenzyme Q10 (CoQ10). METHODS: Cross-modal analysis of a multicenter cohort of 59 COQ8A patients, including genotype-phenotype correlations, 3D-protein modeling, in vitro mutation analyses, magnetic resonance imaging (MRI) markers, disease progression, and CoQ10 response data. RESULTS: Fifty-nine patients (39 novel) with 44 pathogenic COQ8A variants (18 novel) were identified. Missense variants demonstrated a pleiotropic range of detrimental effects upon protein modeling and in vitro analysis of purified variants. COQ8A-ataxia presented as variable multisystemic, early-onset cerebellar ataxia, with complicating features ranging from epilepsy (32%) and cognitive impairment (49%) to exercise intolerance (25%) and hyperkinetic movement disorders (41%), including dystonia and myoclonus as presenting symptoms. Multisystemic involvement was more prevalent in missense than biallelic loss-of-function variants (82-93% vs 53%; p = 0.029). Cerebellar atrophy was universal on MRI (100%), with cerebral atrophy or dentate and pontine T2 hyperintensities observed in 28%. Cross-sectional (n = 34) and longitudinal (n = 7) assessments consistently indicated mild-to-moderate progression of ataxia (SARA: 0.45/year). CoQ10 treatment led to improvement by clinical report in 14 of 30 patients, and by quantitative longitudinal assessments in 8 of 11 patients (SARA: -0.81/year). Explorative sample size calculations indicate that ≥48 patients per arm may suffice to demonstrate efficacy for interventions that reduce progression by 50%. INTERPRETATION: This study provides a deeper understanding of the disease, and paves the way toward large-scale natural history studies and treatment trials in COQ8A-ataxia. ANN NEUROL 2020;88:251-263.

Published
2020

16. Evaluation of belimumab treatment in patients with systemic lupus erythematosus in a clinical practice setting: Results from a 24-month OBSErve study in Argentina

Author

Babini, A, primary, Cappuccio, A M, additional, Caprarulo, C, additional, Casado, G, additional, Eimon, A, additional, Figueredo, H, additional, García, M A, additional, Magri, S, additional, Mannucci, P, additional, Perez Rodriguez, S, additional, Pons-Estel, B A, additional, Velozo, E J, additional, Iglesias-Rodriguez, M, additional, and Streger, G, additional

Published
2020
Full Text
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18. Family-centred care for children and young people with cerebral palsy: results from an Italian multicenter observational study

Author

Molinaro, A, Fedrizzi, E, Calza, S, Pagliano, E, Galli, J, Fazzi, E, Trabacca, A, Vespino, T, Gallino, F, Villani, A, Picciolini, O, Cozzaglio, M, Baranello, G, Zambonin, F, Daniela, F, Mandalari, P, Mirabile, L, Nacinovich, R, Broggi, F, De Polo, G, Da Ruos, F, Cazzagon, M, Godio, M, Piantoni, C, Dusi, E, Marzaroli, M, Fusari, D, Arisi, D, Magri, S, Landi, N, Roberti, L, Signorini, S, Luparia, A, Sabbadini, M, Riccioli, N, Turconi, A, Molteni, F, Marcelli, M, Di Brina, C, Molinaro A., Fedrizzi E., Calza S., Pagliano E., Galli J., Fazzi E., Trabacca A., Vespino T., Gallino F., Villani A., Picciolini O., Cozzaglio M., Baranello G., Zambonin F., Daniela F., Mandalari P., Mirabile L., Nacinovich R., Broggi F., De Polo G., Da Ruos F., Cazzagon M., Godio M., Piantoni C., Dusi E., Marzaroli M., Fusari D., Arisi D., Magri S., Landi N., Roberti L., Signorini S., Luparia A., Sabbadini M., Riccioli N., Turconi A. C., Molteni F., Marcelli M., Di Brina C., Molinaro, A, Fedrizzi, E, Calza, S, Pagliano, E, Galli, J, Fazzi, E, Trabacca, A, Vespino, T, Gallino, F, Villani, A, Picciolini, O, Cozzaglio, M, Baranello, G, Zambonin, F, Daniela, F, Mandalari, P, Mirabile, L, Nacinovich, R, Broggi, F, De Polo, G, Da Ruos, F, Cazzagon, M, Godio, M, Piantoni, C, Dusi, E, Marzaroli, M, Fusari, D, Arisi, D, Magri, S, Landi, N, Roberti, L, Signorini, S, Luparia, A, Sabbadini, M, Riccioli, N, Turconi, A, Molteni, F, Marcelli, M, Di Brina, C, Molinaro A., Fedrizzi E., Calza S., Pagliano E., Galli J., Fazzi E., Trabacca A., Vespino T., Gallino F., Villani A., Picciolini O., Cozzaglio M., Baranello G., Zambonin F., Daniela F., Mandalari P., Mirabile L., Nacinovich R., Broggi F., De Polo G., Da Ruos F., Cazzagon M., Godio M., Piantoni C., Dusi E., Marzaroli M., Fusari D., Arisi D., Magri S., Landi N., Roberti L., Signorini S., Luparia A., Sabbadini M., Riccioli N., Turconi A. C., Molteni F., Marcelli M., and Di Brina C.

Abstract

Background: Family-centred care (FCC) is recognized as the model of best practice for the provision of services for children who have physical disabilities and their families. Objective: To assess the overall perception of FCC provided in an Italian network of 17 rehabilitation services, as perceived by parents of children with cerebral palsy and professionals, and to explore whether children, families, service providers and service-related characteristics influence parent satisfaction regarding service provision in an FCC practice. Methods: The Measure of Processes of Care (MPOC-20) for parents/caregivers and the Measure of Processes of Care for Service Providers (MPOC-SP) for healthcare providers were used. For the purposes of the study, an ad hoc information form was developed to collect information concerning children, families, service providers and services. Results: A total of 382 parents/caregivers and 269 healthcare providers completed the MPOC questionnaires. Parents and service providers both identified the domains for enabling partnerships and interpersonal sensitivity as a strength, while the domain relating to general information was always scored the lowest. An advanced maternal age, being a single parent, being unemployed and having lower socio-economic status were factors identified as individually predictive of lower FCC scores on the MPOC-20. Higher intensity treatment, inpatient services, primary healthcare settings and settings identified with limited financial resources and reduced space/time for each family were other variables significantly associated with less favourable MPOC-20 ratings. Conclusions: The perception of FCC provided was fairly positive, with some areas of improvement, such as the domain of provision of information. Professionals should, therefore, provide better communication and take more time in giving information and attention to parents. Potential sources of variation in parent perceptions of FCC based on family characteri

Published
2017

21. HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature

Author

Difrancesco, J, Castellotti, B, Milanesi, R, Ragona, F, Freri, E, Canafoglia, L, Franceschetti, S, Ferrarese, C, Magri, S, Taroni, F, Costa, C, Labate, A, Gambardella, A, Solazzi, R, Binda, A, Rivolta, I, Di Gennaro, G, Casciato, S, D'Incerti, L, Barbuti, A, Difrancesco, D, Granata, T, Gellera, C, DiFrancesco, Jacopo C., Castellotti, Barbara, Milanesi, Raffaella, Ragona, Francesca, Freri, Elena, Canafoglia, Laura, Franceschetti, Silvana, Ferrarese, Carlo, Magri, Stefania, Taroni, Franco, Costa, Cinzia, Labate, Angelo, Gambardella, Antonio, Solazzi, Roberta, Binda, Anna, Rivolta, Ilaria, Di Gennaro, Giancarlo, Casciato, Sara, D'Incerti, Ludovico, Barbuti, Andrea, DiFrancesco, Dario, Granata, Tiziana, Gellera, Cinzia, Difrancesco, J, Castellotti, B, Milanesi, R, Ragona, F, Freri, E, Canafoglia, L, Franceschetti, S, Ferrarese, C, Magri, S, Taroni, F, Costa, C, Labate, A, Gambardella, A, Solazzi, R, Binda, A, Rivolta, I, Di Gennaro, G, Casciato, S, D'Incerti, L, Barbuti, A, Difrancesco, D, Granata, T, Gellera, C, DiFrancesco, Jacopo C., Castellotti, Barbara, Milanesi, Raffaella, Ragona, Francesca, Freri, Elena, Canafoglia, Laura, Franceschetti, Silvana, Ferrarese, Carlo, Magri, Stefania, Taroni, Franco, Costa, Cinzia, Labate, Angelo, Gambardella, Antonio, Solazzi, Roberta, Binda, Anna, Rivolta, Ilaria, Di Gennaro, Giancarlo, Casciato, Sara, D'Incerti, Ludovico, Barbuti, Andrea, DiFrancesco, Dario, Granata, Tiziana, and Gellera, Cinzia

Abstract

The Hyperpolarization-activated Cyclic Nucleotide-gated (HCN) channels are highly expressed in the Central Nervous Systems, where they are responsible for the I h current. Together with specific accessory proteins, these channels finely regulate neuronal excitability and discharge activity. In the last few years, a substantial body of evidence has been gathered showing that modifications of I h can play an important role in the pathogenesis of epilepsy. However, the extent to which HCN dysfunction is spread among the epileptic population is still unknown. The aim of this work is to evaluate the impact of genetic mutations potentially affecting the HCN channels’ activity, using a NGS approach. We screened a large cohort of patients with epilepsy of unknown etiology for mutations in HCN1, HCN2 and HCN4 and in genes coding for accessory proteins (MiRP1, Filamin A, Caveolin-3, TRIP8b, Tamalin, S-SCAM and Mint2). We confirmed the presence of specific mutations of HCN genes affecting channel function and predisposing to the development of the disease. We also found several previously unreported additional genetic variants, whose contribution to the phenotype remains to be clarified. According to these results and data from literature, alteration of HCN1 channel function seems to play a major role in epilepsy, but also dysfunctional HCN2 and HCN4 channels can predispose to the development of the disease. Our findings suggest that inclusion of the genetic screening of HCN channels in diagnostic procedures of epileptic patients should be recommended. This would help pave the way for a better understanding of the role played by I h dysfunction in the pathogenesis of epilepsy.

Published
2019

22. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

Author

Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti M. (ORCID:0000-0001-7539-505X), Santoro L., Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., Sabatelli M. (ORCID:0000-0001-6635-4985), Luigetti M. (ORCID:0000-0001-7539-505X), and Santoro L.

Abstract

Objective: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with myotubularin-related protein (MTMR) mutations. We conducted a multicenter, retrospective study to better characterize CMT4B. Methods: We collected clinical and genetic data from CMT4B subjects in 18 centers using a predefined minimal data set including Medical Research Council (MRC) scores of nine muscle pairs and CMT Neuropathy Score. Results: There were 50 patients, 21 of whom never reported before, carrying 44 mutations, of which 21 were novel and six representing novel disease associations of known rare variants. CMT4B1 patients had significantly more-severe disease than CMT4B2, with earlier onset, more-frequent motor milestones delay, wheelchair use, and respiratory involvement as well as worse MRC scores and motor CMT Examination Score components despite younger age at examination. Vocal cord involvement was common in both subtypes, whereas glaucoma occurred in CMT4B2 only. Nerve conduction velocities were similarly slowed in both subtypes. Regression analyses showed that disease severity is significantly associated with age in CMT4B1. Slopes are steeper for CMT4B1, indicating faster disease progression. Almost none of the mutations in the MTMR2 and MTMR13 genes, responsible for CMT4B1 and B2, respectively, influence the correlation between disease severity and age, in agreement with the hypothesis of a complete loss of function of MTMR2/13 proteins for such mutations. Interpretation: This is the largest CMT4B series ever reported, demonstrating that CMT4B1 is significantly more severe than CMT4B2, and allowing an estimate of prognosis. ANN NEUROL 2019.

Published
2019

23. Expanding the spectrum of genes responsible for hereditary motor neuropathies

Author

Previtali, Sc, Zhao, E, Lazarevic, D, Pipitone, Gb, Fabrizi, Gm, Manganelli, F, Mazzeo, A, Pareyson, D, Schenone, A, Taroni, F, Vita, G, Bellone, E, Ferrarini, M, Garibaldi, M, Magri, S, Padua, Luca, Pennisi, E, Pisciotta, C, Riva, N, Scaioli, V, Scarlato, M, Tozza, S, Geroldi, A, Jordanova, A, Ferrari, M, Molineris, I, Reilly, Mm, Comi, G, Carrera, P, Devoto, M, Bolino, A., Padua L (ORCID:0000-0003-2570-9326), Previtali, Sc, Zhao, E, Lazarevic, D, Pipitone, Gb, Fabrizi, Gm, Manganelli, F, Mazzeo, A, Pareyson, D, Schenone, A, Taroni, F, Vita, G, Bellone, E, Ferrarini, M, Garibaldi, M, Magri, S, Padua, Luca, Pennisi, E, Pisciotta, C, Riva, N, Scaioli, V, Scarlato, M, Tozza, S, Geroldi, A, Jordanova, A, Ferrari, M, Molineris, I, Reilly, Mm, Comi, G, Carrera, P, Devoto, M, Bolino, A., and Padua L (ORCID:0000-0003-2570-9326)

Abstract

BACKGROUND: Inherited peripheral neuropathies (IPNs) represent a broad group of genetically and clinically heterogeneous disorders, including axonal Charcot-Marie-Tooth type 2 (CMT2) and hereditary motor neuropathy (HMN). Approximately 60%-70% of cases with HMN/CMT2 still remain without a genetic diagnosis. Interestingly, mutations in HMN/CMT2 genes may also be responsible for motor neuron disorders or other neuromuscular diseases, suggesting a broad phenotypic spectrum of clinically and genetically related conditions. Thus, it is of paramount importance to identify novel causative variants in HMN/CMT2 patients to better predict clinical outcome and progression. METHODS: We designed a collaborative study for the identification of variants responsible for HMN/CMT2. We collected 15 HMN/CMT2 families with evidence for autosomal recessive inheritance, who had tested negative for mutations in 94 known IPN genes, who underwent whole-exome sequencing (WES) analyses. Candidate genes identified by WES were sequenced in an additional cohort of 167 familial or sporadic HMN/CMT2 patients using next-generation sequencing (NGS) panel analysis. RESULTS: Bioinformatic analyses led to the identification of novel or very rare variants in genes, which have not been previously associated with HMN/CMT2 (ARHGEF28, KBTBD13, AGRN and GNE); in genes previously associated with HMN/CMT2 but in combination with different clinical phenotypes (VRK1 and PNKP), and in the SIGMAR1 gene, which has been linked to HMN/CMT2 in only a few cases. These findings were further validated by Sanger sequencing, segregation analyses and functional studies. CONCLUSIONS: These results demonstrate the broad spectrum of clinical phenotypes that can be associated with a specific disease gene, as well as the complexity of the pathogenesis of neuromuscular disorders.

Published
2019

24. Patrones de tratamiento, sobrevida y efectividad a largo plazo de agentes biológicos en pacientes con Artritis Psoriásica

Author

Fornaro, M., Dal Pra, F., Schneeberger, E.E., Cerda, O., Landi, M., Correa, M.A., García Salinas, R., Magri, S., Sueldo, R., Santa Cruz, M.J., Buschiazzo, E., and Citera, G.

Subjects
efectividad, patterns of treatment, psoriatic arthritis, sobrevida, biological agents, agentes biológicos, patrones de tratamiento, artritis psoriásica, survival effectiveness
Abstract

Objetivos: Evaluar los patrones de tratamiento de las DME-b (Drogas Modificadoras de la Enfermedad-biológicas), su sobrevida acumulada y su eficacia a largo plazo en pacientes con Artritis Psoriásica (APs) utilizando el índice LUNDEX. Materiales y métodos: Estudio multicéntrico retrospectivo. Se incluyeron pacientes con diagnóstico de APs que hayan iniciado tratamiento con DME-b. Se recolectaron datos sociodemográficos y clínicos. Se consignaron fechas de inicio de DME-b, tratamiento concomitante, suspensión o cambio de tratamiento, y razones de suspensión. La respuesta terapéutica se definió acorde a MDA (Minimal Disease Activity), a los 6, 12 meses y anualmente a partir del inicio de DME-b. Análisis estadístico: Test de Student y Chi². Curvas de Kaplan Meier y Log Rank. Análisis de regresión de Cox. Resultados: Se incluyeron 72 pacientes con APs, 39 (54,2%) de sexo masculino. La edad mediana fue de 54,5 años (RIC 45-61) y el tiempo mediano de evolución de la enfermedad de 11 años (RIC 6-15). 71,2% (n=42) presentaron comorbilidades. El primer DME-b fue en orden decreciente de frecuencia: Adalimumab (45,8%), Etanercept (36,1%), Certolizumab (5,6%), Infliximab (4,2%), Ustekinumab (4,2%), Abatacept (2,7%) y Golimumab (1,4%). 15 pacientes (25,4%) recibieron DME-b en monoterapia. La sobrevida media fue de 82 meses (DE±7,4). El LUNDEX del primer biológico fue 24,7% a los 6 meses y 44,3% al año. La sobrevida media de Adalimumab fue de 90 meses (DE±10,4) y de Etanercept 79 meses (DE±12). Los pacientes añosos presentaron menor sobrevida de la droga [≥55 años: X59,8 (DE±10,5) vs

Published
2018

29. Altered TDP-43-dependent splicing in HSPB8 -related distal hereditary motor neuropathy and myofibrillar myopathy

Author

Cortese, A., primary, Laurà, M., additional, Casali, C., additional, Nishino, I., additional, Hayashi, Y. K., additional, Magri, S., additional, Taroni, F., additional, Stuani, C., additional, Saveri, P., additional, Moggio, M., additional, Ripolone, M., additional, Prelle, A., additional, Pisciotta, C., additional, Sagnelli, A., additional, Pichiecchio, A., additional, Reilly, M. M., additional, Buratti, E., additional, and Pareyson, D., additional

Published
2017
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36. Features of infective endocarditis in persons on chronic Hemodialysis. Result from the prospective, observational sei study (Italian Study on Endocarditis)

Author

DURANTE MANGONI, Emanuele, Ravasio V, Tripodi MF, Pan A, Magri S, Gattuso G, Pasticci MB, Venditti M, Viale P, Pellizzer G, Suter F, UTILI, Riccardo, Rizzi M., DURANTE MANGONI, Emanuele, Ravasio, V, Tripodi, Mf, Pan, A, Magri, S, Gattuso, G, Pasticci, Mb, Venditti, M, Viale, P, Pellizzer, G, Suter, F, Utili, Riccardo, and Rizzi, M.

Subjects
chronic hemodialysis, endocardities
Published
2009

37. Predicting the occurrence of embolic events: An analysis of 1456 episodes of infective endocarditis from the Italian Study on Endocarditis

Author

Rizzi, Marco, Ravasio, Veronica, Carobbio, Alessandra, Mattucci, Irene, Crapis, Massimo, Stellini, Roberto, Pasticci, Maria B., Chinello, Pierangelo, Falcone, Marco, Grossi, Paolo, Barbaro, Francesco, Pan, Angelo, Viale, Pierluigi, Durante, Mangoni, Emanuele, Biglino, A, Brusa MT, Crivelli P, Moglia, R, Leone, S, Ravasio, V, Rizzi, M, Suter, F, Viale, P, Mian, P, Spoladore, G, Castelli, F, Magri, S, Stellini, R, Di Caprio, D, Van Hauwermeiren, E, Pan, A, Zacchi, F, Barzaghi, N, Libanore, M, Pantaleoni, M, Del Bono, V, Viscoli, C, Gattuso, G, Scalzini, A, Villa, Mr, Bernardo, M, Casillo, R, Cuccurullo, S, Dialetto, G, Durante Mangoni, E, Mattucci, I, Ragone, E, Tripodi, Mf, Utili, R, Barbaro, F, Erne, E, Minoli, L, Seminari, Em, Martinelli, L, Pallotto, C, Pasticci, Mb, Canovari, B, Stoppini, L, Chinello, P, Falcone, M, Petrosillo, N, Venditti, M, Delle Foglie, P, Giobbia, M, Inoiosa, W, Scotton, G, Vaglia, A, Bassetti, Matteo, Crapis, M, Venturini, S, Dalla Gasperina, D, Grossi, P, Tebini, A, Concia, E, Del Bravo, P, Tedesco, A, Nicolin, R, Pellizzer, G., Rizzi, M., Ravasio, V., Carobbio, A., Mattucci, I., Crapis, M., Stellini, R., Pasticci, M.B., Chinello, P., Falcone, M., Grossi, P., Barbaro, F., Pan, A, Viale, P, Durante-Mangoni, E., Rizzi, M, Ravasio, V, Carobbio, A, Mattucci, I, Crapis, M, Stellini, R, Pasticci, Mb, Chinello, P, Falcone, M, Grossi, P, Barbaro, F, and DURANTE MANGONI, Emanuele

Subjects
Adult, Male, medicine.medical_specialty, Embolism, infective endocarditis embolic events, Risk Factors, Internal medicine, medicine, Endocarditis, Humans, Risk factor, Prospective cohort study, Aged, Retrospective Studies, Framingham Risk Score, Infective endocarditis, Risk score, Stroke, Endocarditis, Bacterial, Female, Italy, Middle Aged, business.industry, Medicine (all), Bacterial, Retrospective cohort study, Odds ratio, medicine.disease, Surgery, Infectious Diseases, business, Research Article
Abstract

BACKGROUND: Embolic events are a major cause of morbidity and mortality in patients with infective endocarditis. We analyzed the database of the prospective cohort study SEI in order to identify factors associated with the occurrence of embolic events and to develop a scoring system for the assessment of the risk of embolism. METHODS: We retrospectively analyzed 1456 episodes of infective endocarditis from the multicenter study SEI. Predictors of embolism were identified. Risk factors identified at multivariate analysis as predictive of embolism in left-sided endocarditis, were used for the development of a risk score: 1 point was assigned to each risk factor (total risk score range: minimum 0 points; maximum 2 points). Three categories were defined by the score: low (0 points), intermediate (1 point), or high risk (2 points); the probability of embolic events per risk category was calculated for each day on treatment (day 0 through day 30). RESULTS: There were 499 episodes of infective endocarditis (34%) that were complicated by ≥ 1 embolic event. Most embolic events occurred early in the clinical course (first week of therapy: 15.5 episodes per 1000 patient days; second week: 3.7 episodes per 1000 patient days). In the total cohort, the factors associated with the occurrence of embolism at multivariate analysis were prosthetic valve localization (odds ratio, 1.84), right-sided endocarditis (odds ratio, 3.93), Staphylococcus aureus etiology (odds ratio, 2.23) and vegetation size ≥ 13 mm (odds ratio, 1.86). In left-sided endocarditis, Staphylococcus aureus etiology (odds ratio, 2.1) and vegetation size ≥ 13 mm (odds ratio, 2.1) were independently associated with embolic events; the 30-day cumulative incidence of embolism varied with risk score category (low risk, 12%; intermediate risk, 25%; high risk, 38%; p

Published
2014

38. Endocardite su filo di pace maker (PM) o defibrillatore impiantabile (ICD): analisi della casistica dello studio endocarditi italiano-SEI

Author

Pan A, Fracassi F, Ravasio V, Carnevale G, Carosi G, Chinello P, Magri S, Lorenzotti S, Petrosillo N, Pirelli S, Rizzi M, Soavi L, Stellini R, UTILI, Riccardo, Suter F, per il gruppo SEI, DURANTE MANGONI, Emanuele, Pan, A, Fracassi, F, Ravasio, V, Carnevale, G, Carosi, G, Chinello, P, DURANTE MANGONI, Emanuele, Magri, S, Lorenzotti, S, Petrosillo, N, Pirelli, S, Rizzi, M, Soavi, L, Stellini, R, Utili, Riccardo, Suter, F, and per il gruppo, Sei

Published
2008

40. Impact of early valve surgery on outcome of staphylococcus aureus prosthetic valve infective endocarditis: Analysis in the international collaboration of endocarditis-prospective cohort study.

Author

Vincelj J., Sexton D.J., Corey G.R., Chu V.H., Wang A., Erpelding M.-L., Durante-Mangoni E., Fernandez-Hidalgo N., Giannitsioti E., Hannan M.M., Lejko-Zupanc T., Pare C., Pericas J., Ramirez J., Rovira I., Sitges M., Anguera I., Font B., Guma J.R., Bermejo J., Bouza E., Fernandez M.A.G., Gonzalez-Ramallo V., Marin M., Pedromingo M., Roda J., Rodriguez-Creixems M., Solis J., Almirante B., Tornos P., De Alarcon A., Parra R., Alestig E., Johansson M., Olaison L., Snygg-Martin U., Pachirat O., Pachirat P., Pussadhamma B., Senthong V., Casey A., Elliott T., Lambert P., Watkin R., Eyton C., Klein J.L., Bradley S., Kauffman C., Bedimo R., Crowley A.L., Douglas P., Drew L., Holland T., Lalani T., Mudrick D., Samad Z., Stryjewski M., Woods C.W., Lerakis S., Cantey R., Steed L., Wray D., Dickerman S.A., Bonilla H., Di Persio J., Salstrom S.-J., Baddley J., Patel M., Peterson G., Stancoven A., Afonso L., Kulman T., Levine D., Rybak M., Cabell C.H., Baloch K., Dixon C.C., Harding T., Jones-Richmond M., Pappas P., Park L.P., Redick T., Stafford J., Anstrom K., Bayer A.S., Karchmer A.W., Durack D.T., Eykyn S., Moreillon P., Chirouze C., Alla F., Fowler V.G., Miro J.M., Munoz P., Murdoch D.R., Tattevin P., Tribouilloy C., Hoen B., Clara L., Sanchez M., Nacinovich F., Oses P.F., Ronderos R., Sucari A., Thierer J., Casabe J., Cortes C., Altclas J., Kogan S., Spelman D., Athan E., Harris O., Kennedy K., Tan R., Gordon D., Papanicolas L., Eisen D., Grigg L., Street A., Korman T., Kotsanas D., Dever R., Konecny P., Lawrence R., Rees D., Ryan S., Feneley M.P., Harkness J., Jones P., Post J., Reinbott P., Gattringer R., Wiesbauer F., Andrade A.R., De Brito A.C.P., Guimaraes A.C., Grinberg M., Mansur A.J., Siciliano R.F., Strabelli T.M.V., Vieira M.L.C., De Medeiros Tranchesi R.A., Paiva M.G., Fortes C.Q., De Oliveira Ramos A., Ferraiuoli G., Golebiovski W., Lamas C., Santos M., Weksler C., Karlowsky J.A., Keynan Y., Morris A.M., Rubinstein E., Jones S.B., Garcia P., Cereceda M., Fica A., Mella R.M., Barsic B., Bukovski S., Krajinovic V., Pangercic A., Rudez I., Freiberger T., Pol J., Zaloudikova B., Zainab A., El Kholy A., Mishaal M., Rizk H., Aissa N., Alauzet C., Campagnac C., Doco-Lecompte T., Selton-Suty C., Casalta J.-P., Fournier P.-E., Habib G., Raoult D., Thuny F., Delahaye F., Delahaye A., Vandenesch F., Donal E., Donnio P.Y., Michelet C., Revest M., Violette J., Chevalier F., Jeu A., Rusinaru D.M.D., Sorel C., Bernard Y., Leroy J., Plesiat P., Naber C., Neuerburg C., Mazaheri B., Athanasia S., Deliolanis I., Giamarellou H., Tsaganos T., Mylona E., Paniara O., Papanicolaou K., Pyros J., Skoutelis A., Sharma G., Francis J., Nair L., Thomas V., Venugopal K., Hurley J., Gilon D., Israel S., Korem M., Strahilevitz J., Casillo R., Cuccurullo S., Dialetto G., Irene M., Ragone E., Tripodi M.F., Utili R., Cecchi E., De Rosa F., Forno D., Imazio M., Trinchero R., Tebini A., Grossi P., Lattanzio M., Toniolo A., Goglio A., Raglio A., Ravasio V., Rizzi M., Suter F., Carosi G., Magri S., Signorini L., Baban T., Kanafani Z., Kanj S.S., Yasmine M., Abidin I., Tamin S.S., Martinez E.R., Nieto G.I.S., Van Der Meer J.T.M., Chambers S., Holland D., Morris A., Raymond N., Read K., Dragulescu S., Ionac A., Mornos C., Butkevich O.M., Chipigina N., Kirill O., Vadim K., Vinogradova T., Edathodu J., Halim M., Lum L.-N., Tan R.-S., Logar M., Mueller-Premru M., Commerford P., Commerford A., Deetlefs E., Hansa C., Ntsekhe M., Almela M., Armero Y., Azqueta M., Castaneda X., Cervera C., Del Rio A., Falces C., Garcia-De-La-Maria C., Fita G., Gatell J.M., Marco F., Mestres C.A., Moreno A., Ninot S., Vincelj J., Sexton D.J., Corey G.R., Chu V.H., Wang A., Erpelding M.-L., Durante-Mangoni E., Fernandez-Hidalgo N., Giannitsioti E., Hannan M.M., Lejko-Zupanc T., Pare C., Pericas J., Ramirez J., Rovira I., Sitges M., Anguera I., Font B., Guma J.R., Bermejo J., Bouza E., Fernandez M.A.G., Gonzalez-Ramallo V., Marin M., Pedromingo M., Roda J., Rodriguez-Creixems M., Solis J., Almirante B., Tornos P., De Alarcon A., Parra R., Alestig E., Johansson M., Olaison L., Snygg-Martin U., Pachirat O., Pachirat P., Pussadhamma B., Senthong V., Casey A., Elliott T., Lambert P., Watkin R., Eyton C., Klein J.L., Bradley S., Kauffman C., Bedimo R., Crowley A.L., Douglas P., Drew L., Holland T., Lalani T., Mudrick D., Samad Z., Stryjewski M., Woods C.W., Lerakis S., Cantey R., Steed L., Wray D., Dickerman S.A., Bonilla H., Di Persio J., Salstrom S.-J., Baddley J., Patel M., Peterson G., Stancoven A., Afonso L., Kulman T., Levine D., Rybak M., Cabell C.H., Baloch K., Dixon C.C., Harding T., Jones-Richmond M., Pappas P., Park L.P., Redick T., Stafford J., Anstrom K., Bayer A.S., Karchmer A.W., Durack D.T., Eykyn S., Moreillon P., Chirouze C., Alla F., Fowler V.G., Miro J.M., Munoz P., Murdoch D.R., Tattevin P., Tribouilloy C., Hoen B., Clara L., Sanchez M., Nacinovich F., Oses P.F., Ronderos R., Sucari A., Thierer J., Casabe J., Cortes C., Altclas J., Kogan S., Spelman D., Athan E., Harris O., Kennedy K., Tan R., Gordon D., Papanicolas L., Eisen D., Grigg L., Street A., Korman T., Kotsanas D., Dever R., Konecny P., Lawrence R., Rees D., Ryan S., Feneley M.P., Harkness J., Jones P., Post J., Reinbott P., Gattringer R., Wiesbauer F., Andrade A.R., De Brito A.C.P., Guimaraes A.C., Grinberg M., Mansur A.J., Siciliano R.F., Strabelli T.M.V., Vieira M.L.C., De Medeiros Tranchesi R.A., Paiva M.G., Fortes C.Q., De Oliveira Ramos A., Ferraiuoli G., Golebiovski W., Lamas C., Santos M., Weksler C., Karlowsky J.A., Keynan Y., Morris A.M., Rubinstein E., Jones S.B., Garcia P., Cereceda M., Fica A., Mella R.M., Barsic B., Bukovski S., Krajinovic V., Pangercic A., Rudez I., Freiberger T., Pol J., Zaloudikova B., Zainab A., El Kholy A., Mishaal M., Rizk H., Aissa N., Alauzet C., Campagnac C., Doco-Lecompte T., Selton-Suty C., Casalta J.-P., Fournier P.-E., Habib G., Raoult D., Thuny F., Delahaye F., Delahaye A., Vandenesch F., Donal E., Donnio P.Y., Michelet C., Revest M., Violette J., Chevalier F., Jeu A., Rusinaru D.M.D., Sorel C., Bernard Y., Leroy J., Plesiat P., Naber C., Neuerburg C., Mazaheri B., Athanasia S., Deliolanis I., Giamarellou H., Tsaganos T., Mylona E., Paniara O., Papanicolaou K., Pyros J., Skoutelis A., Sharma G., Francis J., Nair L., Thomas V., Venugopal K., Hurley J., Gilon D., Israel S., Korem M., Strahilevitz J., Casillo R., Cuccurullo S., Dialetto G., Irene M., Ragone E., Tripodi M.F., Utili R., Cecchi E., De Rosa F., Forno D., Imazio M., Trinchero R., Tebini A., Grossi P., Lattanzio M., Toniolo A., Goglio A., Raglio A., Ravasio V., Rizzi M., Suter F., Carosi G., Magri S., Signorini L., Baban T., Kanafani Z., Kanj S.S., Yasmine M., Abidin I., Tamin S.S., Martinez E.R., Nieto G.I.S., Van Der Meer J.T.M., Chambers S., Holland D., Morris A., Raymond N., Read K., Dragulescu S., Ionac A., Mornos C., Butkevich O.M., Chipigina N., Kirill O., Vadim K., Vinogradova T., Edathodu J., Halim M., Lum L.-N., Tan R.-S., Logar M., Mueller-Premru M., Commerford P., Commerford A., Deetlefs E., Hansa C., Ntsekhe M., Almela M., Armero Y., Azqueta M., Castaneda X., Cervera C., Del Rio A., Falces C., Garcia-De-La-Maria C., Fita G., Gatell J.M., Marco F., Mestres C.A., Moreno A., and Ninot S.

Abstract

Background. The impact of early valve surgery (EVS) on the outcome of Staphylococcus aureus (SA) prosthetic valve infective endocarditis (PVIE) is unresolved. The objective of this study was to evaluate the association between EVS, performed within the first 60 days of hospitalization, and outcome of SA PVIE within the International Collaboration on Endocarditis-Prospective Cohort Study. Methods. Participants were enrolled between June 2000 and December 2006. Cox proportional hazards modeling that included surgery as a time-dependent covariate and propensity adjustment for likelihood to receive cardiac surgery was used to evaluate the impact of EVS and 1-year all-cause mortality on patients with definite left-sided S. aureus PVIE and no history of injection drug use. Results. EVS was performed in 74 of the 168 (44.3%) patients. One-year mortality was significantly higher among patients with S. aureus PVIE than in patients with non-S. aureus PVIE (48.2% vs 32.9%; P = .003). Staphylococcus aureus PVIE patients who underwent EVS had a significantly lower 1-year mortality rate (33.8% vs 59.1%; P = .001). In multivariate, propensity-adjusted models, EVS was not associated with 1-year mortality (risk ratio, 0.67 [95% confidence interval, .39-1.15]; P = .15). Conclusions. In this prospective, multinational cohort of patients with S. aureus PVIE, EVS was not associated with reduced 1-year mortality. The decision to pursue EVS should be individualized for each patient, based upon infection-specific characteristics rather than solely upon the microbiology of the infection causing PVIE.Copyright © The Author 2014.

Published
2015

41. Candida infective endocarditis: An observational cohort study with a focus on therapy.

Author

Campagnac C., Llopis J., Marco F., Mestres C.A., Moreno A., Ninot S., Pare C., Pericas J.M., Ramirez J., Rovira I., Sitges M., Anguera I., Font B., Guma J.R., Bermejo J., Bouza E., Leoni M.E.G., Robles J.A.G., Ramallo V.G., Cruz A.F., Kestler M., Marin M., Selles M.M., Abella H.R., Roda J.R., Lopez R.A., Pinilla B., Pinto A., Valerio M., Vazquez P., Verde E., Almirante B., De Alarcon A., Parra R., Alestig E., Johansson M., Olaison L., Snygg-Martin U., Pachirat O., Pachirat P., Pussadhamma B., Senthong V., Casey A., Elliott T., Lambert P., Watkin R., Eyton C., Klein J.L., Kauffman C., Bedimo R., Corey G.R., Crowley A.L., Douglas P., Drew L., Fowler V.G., Holland T., Lalani T., Mudrick D., Samad Z., Sexton D., Stryjewski M., Wang A., Woods C.W., Lerakis S., Cantey R., Steed L., Wray D., Dickerman S.A., Bonilla H., DiPersio J., Salstrom S.-J., Baddley J., Patel M., Peterson G., Stancoven A., Levine D., Riddle J., Rybak M., Cabell C.H., Baloch K., Dixon C.C., Harding T., Jones-Richmond M., Park L.P., Sanderford B., Stafford J., Anstrom K., Karchmer A.W., Sexton D.J., Durack D.T., Eykyn S., Moreillon P., Sexton. D.J., Arnold C.J., Johnson M., Bayer A.S., Bradley S., Giannitsioti E., Miro J.M., Tornos P., Tattevin P., Strahilevitz J., Spelman D., Athan E., Nacinovich F., Lamas C., Barsic B., Fernandez-Hidalgo N., Munoz P., Chu V.H., Clara L., Sanchez M., Casabe J., Cortes C., Oses P.F., Ronderos R., Sucari A., Thierer J., Altclas J., Kogan S., Harris O., Kennedy K., Tan R., Gordon D., Papanicolas L., Korman T., Kotsanas D., Dever R., Jones P., Konecny P., Lawrence R., Rees D., Ryan S., Feneley M.P., Harkness J., Post J., Reinbott P., Gattringer R., Wiesbauer F., Andrade A.R., De Brito A.C.P., Guimaraes A.C., Grinberg M., Mansur A.J., Siciliano R.F., Strabelli T.M.V., Vieira M.L.C., De Medeiros Tranchesi R.A., Paiva M.G., Fortes C.Q., De Oliveira Ramos A., Weksler C., Ferraiuoli G., Golebiovski W., Karlowsky J.A., Keynan Y., Morris A.M., Rubinstein E., Jones S.B., Garcia P., Cereceda M., Fica A., Mella R.M., Fernandez R., Franco L., Gonzalez J., Jaramillo A.N., Bukovski S., Krajinovic V., Pangercic A., Rudez I., Vincelj J., Freiberger T., Pol J., Zaloudikova B., Ashour Z., Kholy A.E., Mishaal M., Osama D., Rizk H., Aissa N., Alauzet C., Alla F., Doco-Lecompte T., Selton-Suty C., Casalta J.-P., Fournier P.-E., Habib G., Raoult D., Thuny F., Delahaye F., Delahaye A., Vandenesch F., Donal E., Donnio P.Y., Flecher E., Michelet C., Revest M., Chevalier F., Jeu A., Remadi J.P., Rusinaru D., Tribouilloy C., Bernard Y., Chirouze C., Hoen B., Leroy J., Plesiat P., Naber C., Neuerburg C., Mazaheri B., Helen G., Sofia A., Ioannis D., Thomas T., Mylona E., Paniara O., Papanicolaou K., Pyros J., Skoutelis A., Sharma G., Francis J., Nair L., Thomas V., Venugopal K., Hannan M.M., Hurley J.P., Cahan A., Gilon D., Israel S., Korem M., Durante-Mangoni E., Mattucci I., Pinto D., Agrusta F., Senese A., Ragone E., Utili R., Cecchi E., De Rosa F., Forno D., Imazio M., Trinchero R., Grossi P., Lattanzio M., Toniolo A., Goglio A., Raglio A., Ravasio V., Rizzi M., Suter F., Carosi G., Magri S., Signorini L., Kanafani Z., Kanj S.S., Sharif-Yakan A., Abidin I., Tamin S.S., Martinez E.R., Nieto G.I.S., Van Der Meer J.T.M., Chambers S., Holland D., Morris A., Raymond N., Read K., Murdoch D.R., Dragulescu S., Ionac A., Mornos C., Butkevich O.M., Chipigina N., Kirill O., Vadim K., Vinogradova T., Edathodu J., Halim M., Liew Y.-Y., Tan R.-S., Lejko-Zupanc T., Logar M., Mueller-Premru M., Commerford P., Commerford A., Deetlefs E., Hansa C., Ntsekhe M., Almela M., Armero Y., Azqueta M., Castaneda X., Cervera C., Falces C., Garcia-De-La-Maria C., Fita G., Gatell J.M., Heras M., Campagnac C., Llopis J., Marco F., Mestres C.A., Moreno A., Ninot S., Pare C., Pericas J.M., Ramirez J., Rovira I., Sitges M., Anguera I., Font B., Guma J.R., Bermejo J., Bouza E., Leoni M.E.G., Robles J.A.G., Ramallo V.G., Cruz A.F., Kestler M., Marin M., Selles M.M., Abella H.R., Roda J.R., Lopez R.A., Pinilla B., Pinto A., Valerio M., Vazquez P., Verde E., Almirante B., De Alarcon A., Parra R., Alestig E., Johansson M., Olaison L., Snygg-Martin U., Pachirat O., Pachirat P., Pussadhamma B., Senthong V., Casey A., Elliott T., Lambert P., Watkin R., Eyton C., Klein J.L., Kauffman C., Bedimo R., Corey G.R., Crowley A.L., Douglas P., Drew L., Fowler V.G., Holland T., Lalani T., Mudrick D., Samad Z., Sexton D., Stryjewski M., Wang A., Woods C.W., Lerakis S., Cantey R., Steed L., Wray D., Dickerman S.A., Bonilla H., DiPersio J., Salstrom S.-J., Baddley J., Patel M., Peterson G., Stancoven A., Levine D., Riddle J., Rybak M., Cabell C.H., Baloch K., Dixon C.C., Harding T., Jones-Richmond M., Park L.P., Sanderford B., Stafford J., Anstrom K., Karchmer A.W., Sexton D.J., Durack D.T., Eykyn S., Moreillon P., Sexton. D.J., Arnold C.J., Johnson M., Bayer A.S., Bradley S., Giannitsioti E., Miro J.M., Tornos P., Tattevin P., Strahilevitz J., Spelman D., Athan E., Nacinovich F., Lamas C., Barsic B., Fernandez-Hidalgo N., Munoz P., Chu V.H., Clara L., Sanchez M., Casabe J., Cortes C., Oses P.F., Ronderos R., Sucari A., Thierer J., Altclas J., Kogan S., Harris O., Kennedy K., Tan R., Gordon D., Papanicolas L., Korman T., Kotsanas D., Dever R., Jones P., Konecny P., Lawrence R., Rees D., Ryan S., Feneley M.P., Harkness J., Post J., Reinbott P., Gattringer R., Wiesbauer F., Andrade A.R., De Brito A.C.P., Guimaraes A.C., Grinberg M., Mansur A.J., Siciliano R.F., Strabelli T.M.V., Vieira M.L.C., De Medeiros Tranchesi R.A., Paiva M.G., Fortes C.Q., De Oliveira Ramos A., Weksler C., Ferraiuoli G., Golebiovski W., Karlowsky J.A., Keynan Y., Morris A.M., Rubinstein E., Jones S.B., Garcia P., Cereceda M., Fica A., Mella R.M., Fernandez R., Franco L., Gonzalez J., Jaramillo A.N., Bukovski S., Krajinovic V., Pangercic A., Rudez I., Vincelj J., Freiberger T., Pol J., Zaloudikova B., Ashour Z., Kholy A.E., Mishaal M., Osama D., Rizk H., Aissa N., Alauzet C., Alla F., Doco-Lecompte T., Selton-Suty C., Casalta J.-P., Fournier P.-E., Habib G., Raoult D., Thuny F., Delahaye F., Delahaye A., Vandenesch F., Donal E., Donnio P.Y., Flecher E., Michelet C., Revest M., Chevalier F., Jeu A., Remadi J.P., Rusinaru D., Tribouilloy C., Bernard Y., Chirouze C., Hoen B., Leroy J., Plesiat P., Naber C., Neuerburg C., Mazaheri B., Helen G., Sofia A., Ioannis D., Thomas T., Mylona E., Paniara O., Papanicolaou K., Pyros J., Skoutelis A., Sharma G., Francis J., Nair L., Thomas V., Venugopal K., Hannan M.M., Hurley J.P., Cahan A., Gilon D., Israel S., Korem M., Durante-Mangoni E., Mattucci I., Pinto D., Agrusta F., Senese A., Ragone E., Utili R., Cecchi E., De Rosa F., Forno D., Imazio M., Trinchero R., Grossi P., Lattanzio M., Toniolo A., Goglio A., Raglio A., Ravasio V., Rizzi M., Suter F., Carosi G., Magri S., Signorini L., Kanafani Z., Kanj S.S., Sharif-Yakan A., Abidin I., Tamin S.S., Martinez E.R., Nieto G.I.S., Van Der Meer J.T.M., Chambers S., Holland D., Morris A., Raymond N., Read K., Murdoch D.R., Dragulescu S., Ionac A., Mornos C., Butkevich O.M., Chipigina N., Kirill O., Vadim K., Vinogradova T., Edathodu J., Halim M., Liew Y.-Y., Tan R.-S., Lejko-Zupanc T., Logar M., Mueller-Premru M., Commerford P., Commerford A., Deetlefs E., Hansa C., Ntsekhe M., Almela M., Armero Y., Azqueta M., Castaneda X., Cervera C., Falces C., Garcia-De-La-Maria C., Fita G., Gatell J.M., and Heras M.

Abstract

Candida infective endocarditis is a rare disease with a high mortality rate. Our understanding of this infection is derived from case series, case reports, and small prospective cohorts. The purpose of this study was to evaluate the clinical features and use of different antifungal treatment regimens for Candida infective endocarditis. This prospective cohort study was based on 70 cases of Candida infective endocarditis from the International Collaboration on Endocarditis (ICE)-Prospective Cohort Study and ICE-Plus databases collected between 2000 and 2010. The majority of infections were acquired nosocomially (67%). Congestive heart failure (24%), prosthetic heart valve (46%), and previous infective endocarditis (26%) were common comorbidities. Overall mortality was high, with 36% mortality in the hospital and 59% at 1 year. On univariate analysis, older age, heart failure at baseline, persistent candidemia, nosocomial acquisition, heart failure as a complication, and intracardiac abscess were associated with higher mortality. Mortality was not affected by use of surgical therapy or choice of antifungal agent. A subgroup analysis was performed on 33 patients for whom specific antifungal therapy information was available. In this subgroup, 11 patients received amphotericin B-based therapy and 14 received echinocandin-based therapy. Despite a higher percentage of older patients and nosocomial infection in the echinocandin group, mortality rates were similar between the two groups. In conclusion, Candida infective endocarditis is associated with a high mortality rate that was not impacted by choice of antifungal therapy or by adjunctive surgical intervention. Additionally, echinocandin therapy was as effective as amphotericin B-based therapy in the small subgroup analysis.Copyright © 2015, American Society for Microbiology.

Published
2015

44. One-year outcome following biological or mechanical valve replacement for infective endocarditis.

Author

Pangercic A., Munoz P., Pedromingo M., Roda J., Rodriguez-Creixems M., Solis J., Almirante B., Fernandez-Hidalgo N., Tornos P., de Alarcon A., Parra R., Alestig E., Johansson M., Olaison L., Snygg-Martin U., Pachirat P., Pussadhamma B., Senthong V., Casey A., Elliott T., Lambert P., Watkin R., Eyton C., Klein J.L., Bradley S., Kauffman C., Bedimo R., Corey G.R., Crowley A.L., Douglas P., Drew L., Fowler V.G., Holland T., Lalani T., Mudrick D., Samad Z., Sexton D.J., Stryjewski M., Woods C.W., Lerakis S., Cantey R., Steed L., Wray D., Dickerman S.A., Bonilla H., Dipersio J., Salstrom S.-J., Baddley J., Patel M., Peterson G., Stancoven A., Levine D., Riddle J., Rybak M., Cabell C.H., Baloch K., Dixon C.C., Harding T., Jones-Richmond M., Park L.P., Sanderford B., Stafford J., Anstrom K., Bayer A.S., Karchmer A.W., Durack D.T., Eykyn S., Moreillon P., Delahaye F., Chu V.H., Altclas J., Barsic B., Delahaye A., Freiberger T., Gordon D.L., Hannan M.M., Hoen B., Kanj S.S., Lejko-Zupanc T., Mestres C.A., Pachirat O., Pappas P., Lamas C., Selton-Suty C., Tan R., Tattevin P., Wang A., Clara L., Sanchez M., Casabe J., Cortes C., Nacinovich F., Oses P.F., Ronderos R., Sucari A., Thierer J., Kogan S., Spelman D., Athan E., Harris O., Kennedy K., Gordon D., Papanicolas L., Eisen D., Grigg L., Street A., Korman T., Kotsanas D., Dever R., Jones P., Konecny P., Lawrence R., Rees D., Ryan S., Feneley M.P., Harkness J., Post J., Reinbott P., Gattringer R., Wiesbauer F., Andrade A.R., de Brito A.C.P., Guimaraes A.C., Grinberg M., Mansur A.J., Siciliano R.F., Strabelli T.M.V., Vieira M.L.C., Tranchesi R.A.M., Paiva M.G., Fortes C.Q., Ramos A.O., Ferraiuoli G., Golebiovski W., Weksler C., Santos M., Karlowsky J.A., Keynan Y., Morris A.M., Rubinstein E., Jones S.B., Garcia P., Cereceda M., Fica A., Mella R.M., Fernandez R., Franco L., Gonzalez J., Jaramillo A.N., Bukovski S., Krajinovic V., Sharma G., Rudez I., Vincelj J., Pol J., Zaloudikova B., Ashour Z., El Kholy A., Mishaal M., Osama D., Rizk H., Aissa N., Alauzet C., Alla F., Campagnac C., Doco-Lecompte T., Goehringer F., Casalta J.-P., Fournier P.-E., Habib G., Raoult D., Thuny F., Vandenesch F., Donal E., Donnio P.Y., Flecher E., Michelet C., Revest M., Chevalier F., Jeu A., Remadi J.P., Rusinaru D., Tribouilloy C., Bernard Y., Chirouze C., Leroy J., Plesiat P., Naber C., Neuerburg C., Mazaheri B., Thomas T., Giannitsioti E., Mylona E., Paniara O., Papanicolaou K., Pyros J., Skoutelis A., Papanikolaou K., Francis J., Nair L., Thomas V., Venugopal K., Hannan M., Hurley J., Cahan A., Gilon D., Israel S., Korem M., Strahilevitz J., Durante-Mangoni E., Mattucci I., Pinto D., Agrusta F., Senese A., Ragone E., Utili R., Cecchi E., De Rosa F., Forno D., Imazio M., Trinchero R., Tebini A., Grossi P., Lattanzio M., Toniolo A., Goglio A., Raglio A., Ravasio V., Rizzi M., Suter F., Carosi G., Magri S., Signorini L., Anouti K., Chahoud J., Kanafani Z., Abidin I., Tamin S.S., Martinez E.R., Nieto G.I.S., van der Meer J.T.M., Chambers S., Holland D., Morris A., Raymond N., Read K., Murdoch D.R., Dragulescu S., Ionac A., Mornos C., Butkevich O.M., Chipigina N., Kirill O., Vadim K., Vinogradova T., Edathodu J., Halim M., Liew Y.-Y., Tan R.-S., Logar M., Mueller-Premru M., Commerford P., Commerford A., Deetlefs E., Hansa C., Ntsekhe M., Almela M., Armero Y., Azqueta M., Castaneda X., Cervera C., Del Rio A., Falces C., Garcia-De-la-maria C., Fita G., Gatell J.M., Heras M., Llopis J., Marco F., Miro J.M., Moreno A., Ninot S., Pare C., Pericas J.M., Ramirez J., Rovira I., Sitges M., Anguera I., Font B., Guma J.R., Bermejo J., Bouza E., Fernandez M.A.G., Gonzalez-Ramallo V., Marin M., Pangercic A., Munoz P., Pedromingo M., Roda J., Rodriguez-Creixems M., Solis J., Almirante B., Fernandez-Hidalgo N., Tornos P., de Alarcon A., Parra R., Alestig E., Johansson M., Olaison L., Snygg-Martin U., Pachirat P., Pussadhamma B., Senthong V., Casey A., Elliott T., Lambert P., Watkin R., Eyton C., Klein J.L., Bradley S., Kauffman C., Bedimo R., Corey G.R., Crowley A.L., Douglas P., Drew L., Fowler V.G., Holland T., Lalani T., Mudrick D., Samad Z., Sexton D.J., Stryjewski M., Woods C.W., Lerakis S., Cantey R., Steed L., Wray D., Dickerman S.A., Bonilla H., Dipersio J., Salstrom S.-J., Baddley J., Patel M., Peterson G., Stancoven A., Levine D., Riddle J., Rybak M., Cabell C.H., Baloch K., Dixon C.C., Harding T., Jones-Richmond M., Park L.P., Sanderford B., Stafford J., Anstrom K., Bayer A.S., Karchmer A.W., Durack D.T., Eykyn S., Moreillon P., Delahaye F., Chu V.H., Altclas J., Barsic B., Delahaye A., Freiberger T., Gordon D.L., Hannan M.M., Hoen B., Kanj S.S., Lejko-Zupanc T., Mestres C.A., Pachirat O., Pappas P., Lamas C., Selton-Suty C., Tan R., Tattevin P., Wang A., Clara L., Sanchez M., Casabe J., Cortes C., Nacinovich F., Oses P.F., Ronderos R., Sucari A., Thierer J., Kogan S., Spelman D., Athan E., Harris O., Kennedy K., Gordon D., Papanicolas L., Eisen D., Grigg L., Street A., Korman T., Kotsanas D., Dever R., Jones P., Konecny P., Lawrence R., Rees D., Ryan S., Feneley M.P., Harkness J., Post J., Reinbott P., Gattringer R., Wiesbauer F., Andrade A.R., de Brito A.C.P., Guimaraes A.C., Grinberg M., Mansur A.J., Siciliano R.F., Strabelli T.M.V., Vieira M.L.C., Tranchesi R.A.M., Paiva M.G., Fortes C.Q., Ramos A.O., Ferraiuoli G., Golebiovski W., Weksler C., Santos M., Karlowsky J.A., Keynan Y., Morris A.M., Rubinstein E., Jones S.B., Garcia P., Cereceda M., Fica A., Mella R.M., Fernandez R., Franco L., Gonzalez J., Jaramillo A.N., Bukovski S., Krajinovic V., Sharma G., Rudez I., Vincelj J., Pol J., Zaloudikova B., Ashour Z., El Kholy A., Mishaal M., Osama D., Rizk H., Aissa N., Alauzet C., Alla F., Campagnac C., Doco-Lecompte T., Goehringer F., Casalta J.-P., Fournier P.-E., Habib G., Raoult D., Thuny F., Vandenesch F., Donal E., Donnio P.Y., Flecher E., Michelet C., Revest M., Chevalier F., Jeu A., Remadi J.P., Rusinaru D., Tribouilloy C., Bernard Y., Chirouze C., Leroy J., Plesiat P., Naber C., Neuerburg C., Mazaheri B., Thomas T., Giannitsioti E., Mylona E., Paniara O., Papanicolaou K., Pyros J., Skoutelis A., Papanikolaou K., Francis J., Nair L., Thomas V., Venugopal K., Hannan M., Hurley J., Cahan A., Gilon D., Israel S., Korem M., Strahilevitz J., Durante-Mangoni E., Mattucci I., Pinto D., Agrusta F., Senese A., Ragone E., Utili R., Cecchi E., De Rosa F., Forno D., Imazio M., Trinchero R., Tebini A., Grossi P., Lattanzio M., Toniolo A., Goglio A., Raglio A., Ravasio V., Rizzi M., Suter F., Carosi G., Magri S., Signorini L., Anouti K., Chahoud J., Kanafani Z., Abidin I., Tamin S.S., Martinez E.R., Nieto G.I.S., van der Meer J.T.M., Chambers S., Holland D., Morris A., Raymond N., Read K., Murdoch D.R., Dragulescu S., Ionac A., Mornos C., Butkevich O.M., Chipigina N., Kirill O., Vadim K., Vinogradova T., Edathodu J., Halim M., Liew Y.-Y., Tan R.-S., Logar M., Mueller-Premru M., Commerford P., Commerford A., Deetlefs E., Hansa C., Ntsekhe M., Almela M., Armero Y., Azqueta M., Castaneda X., Cervera C., Del Rio A., Falces C., Garcia-De-la-maria C., Fita G., Gatell J.M., Heras M., Llopis J., Marco F., Miro J.M., Moreno A., Ninot S., Pare C., Pericas J.M., Ramirez J., Rovira I., Sitges M., Anguera I., Font B., Guma J.R., Bermejo J., Bouza E., Fernandez M.A.G., Gonzalez-Ramallo V., and Marin M.

Abstract

Methods and results Among 5591 patients included in the International Collaboration on Endocarditis Prospective Cohort Study, 1467 patients with definite IE were operated on during the active phase and had a biological (37%) or mechanical (63%) valve replacement. Patients who received bioprostheses were older (62 vs 54 years), more often had a history of cancer (9% vs 6%), and had moderate or severe renal disease (9% vs 4%); proportion of health care-associated IE was higher (26% vs 17%); intracardiac abscesses were more frequent (30% vs 23%). In-hospital and 1-year death rates were higher in the bioprosthesis group, 20.5% vs 14.0% (p = 0.0009) and 25.3% vs 16.6% (p <.0001), respectively. In multivariable analysis, mechanical prostheses were less commonly implanted in older patients (odds ratio: 0.64 for every 10 years), and in patients with a history of cancer (0.72), but were more commonly implanted in mitral position (1.60). Bioprosthesis was independently associated with 1-year mortality (hazard ratio: 1.298). Conclusions Patients with IE who receive a biological valve replacement have significant differences in clinical characteristics compared to patients who receive a mechanical prosthesis. Biological valve replacement is independently associated with a higher in-hospital and 1-year mortality, a result which is possibly related to patient characteristics rather than valve dysfunction. Background Nearly half of patients require cardiac surgery during the acute phase of infective endocarditis (IE). We describe the characteristics of patients according to the type of valve replacement (mechanical or biological), and examine whether the type of prosthesis was associated with in-hospital and 1-year mortality.Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Published
2014

45. Candida infective endocarditis: report of 15 cases from a prospective multicenter study

Author

Falcone, M, Barzaghi, N, Carosi, G, Grossi, P, Minoli, L, Ravasio, V, Rizzi, M, Suter, F, Utili, R, Viscoli, C, Venditti, M, Collaborators: Biglino A, Italian Study on E. n. d. o. c. a. r. d. i. t. i. s., Crivelli, P, Stellini, R, Magri, S, Del Bono, V, Vitale, F, Scalzini, A, Gattuso, G, Durante Mangoni, E, Ragone, E, Cuccurullo, S, Tripodi, MARIE FRANCOISE, Spoladore, G, Pasticci, Mb, Martinelli, L, Mal, Uo, Petrosillo, N, Chinello, P, Delle Foglie, P, Vaglia, A, Viale, P, Crapis, M, Tambini, R, Tomasello, L, Pellizzer, Gp, Nicolin, R, Concia, E, Del Bravo, P, Tedesco, A., Falcone, M, Barzaghi, N, Carosi, G, Grossi, P, Minoli, L, Ravasio, V, Rizzi, M, Suter, F, Utili, Riccardo, Viscoli, C, Venditti, M, and ITALIAN STUDY ON, Endocarditis

Subjects
Adult, Male, medicine.medical_specialty, Antifungal Agents, Prosthesis-Related Infections, Adolescent, Candida, infective endocarditis, italy, Echinocandins, Lipopeptides, Young Adult, chemistry.chemical_compound, Caspofungin, Epidemiology, medicine, Humans, Endocarditis, Prospective Studies, Prosthesis-Related Infection, Child, Prospective cohort study, Aged, Aged, 80 and over, yeast endocarditis, Native Valve Endocarditis, business.industry, Mortality rate, Candidiasis, General Medicine, Middle Aged, medicine.disease, Surgery, chemistry, Child, Preschool, Heart Valve Prosthesis, Infective endocarditis, Female, business
Abstract

Candida species are an uncommon cause of infective endocarditis (IE). Given the rarity of this infection, the epidemiology, prognosis, and optimal therapy of Candida IE are poorly defined. We conducted a prospective, observational study at 18 medical centers in Italy, including all consecutive patients with a definite diagnosis of IE admitted from January 2004 through December 2007.A Candida species was the causative organism in 8 cases of prosthetic valve endocarditis (PVE), 5 cases of native valve endocarditis (NVE), 1 case of pacemaker endocarditis, and 1 case of left ventricular patch infection. Candida species accounted for 1.8% of total cases, and for 3.4% of PVE cases. Most patients (86.6%) had a health care-associated infection. PVE associated with a health care contact occurred after a median of 225 days from valve implantation. Ten patients (66.6%) were treated with caspofungin alone or in combination with other antifungal drugs. The overall mortality rate was 46.6%. Mortality was higher in patients with PVE (5 of 8 cases, 62.5%) than in patients with NVE (2 of 5 patients, 40%). A better outcome was observed in patients treated with a combined medical and surgical therapy.Candida IE should be classified as an emerging infectious disease, usually involving patients with intravascular prosthetic devices, and associated with substantial related morbidity and mortality. Candida PVE usually is a late-onset disease, which becomes clinically evident even several months after an initial episode of transient candidemia.

Published
2009

47. La Laguna di Venezia: guida all'escursione

Author

Bondesan, Aldino, Meneghel, Mirco, Fontana, Alessandro, Furlanetto, P., Levorato, C., Magri, S., and Primon, Sandra

Subjects
Pellestrina, Venice Lagoon, Brenta river
Published
2005

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