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2. Transcatheter aortic valve implantation amid the COVID-19 pandemic: a nationwide analysis of the first COVID-19 wave in the Netherlands

Author

Rooijakkers, M. J. P., Li, W. W. L., Stens, N. A., Vis, M. M., Tonino, P. A. L., Timmers, L., Van Mieghem, N. M., den Heijer, P., Kats, S., Stella, P. R., Roolvink, V., van der Werf, H. W., Stoel, M. G., Schotborgh, C. E., Amoroso, G., Porta, F., van der Kley, F., van Wely, M. H., Gehlmann, H., van Garsse, L. A. F. M., Geuzebroek, G. S. C., Verkroost, M. W. A., Mourisse, J. M., Medendorp, N. M., and van Royen, N.

Published
2022
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4. A Nationwide Study on Mitral Valve Repair vs Replacement for Active Endocarditis

Author

Tomšič, Anton, primary, de Weger, Arend, additional, van der Stoel, Michelle, additional, Klautz, Robert J.M., additional, Palmen, Meindert, additional, Bramer, S., additional, van Boven, W.J.P., additional, Vonk, A.B.A., additional, Koene, B.M.J.A., additional, Bekkers, J.A., additional, Hoohenkerk, G.J.F., additional, Markou, A.L.P., additional, de Weger, A., additional, Segers, P., additional, Porta, F., additional, Speekenbrink, R.G.H., additional, Stooker, W., additional, Li, W.W.L., additional, Daeter, E.J., additional, van der Kaaij, N.P., additional, and Douglas, Y.L., additional

Published
2024
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5. Musculoskeletal manifestations of childhood cancer and differential diagnosis with juvenile idiopathic arthritis (ONCOREUM): a multicentre, cross-sectional study

Author

Amatruda, M, Atzeni, C, Bertolini, P, Bigucci, B, Caniglia, M, Cappella, M, Cattalini, M, Cefalo, MG, Cellini, M, Cortis, E, Davì, S, De Benedetti, F, Di Cataldo, A, Fabbri, E, Fagioli, F, Fontanili, I, Garaventa, A, Gicchino, MF, Ladogana, S, Locatelli, F, Magnolato, A, Marsili, M, Martino, S, Mascarin, M, Messina, C, Micalizzi, C, Porta, F, Rizzari, C, Civino, Adele, Alighieri, Giovanni, Prete, Eleonora, Caroleo, Anna Maria, Magni-Manzoni, Silvia, Vinti, Luciana, Romano, Micol, Santoro, Nicola, Filocamo, Giovanni, Belotti, Tamara, Santarelli, Francesca, Gorio, Chiara, Ricci, Francesca, Colombini, Antonella, Pastore, Serena, Cesaro, Simone, Barone, Patrizia, Verzegnassi, Federico, Olivieri, Alma Nunzia, Ficara, Monica, Miniaci, Angela, Russo, Giovanna, Gallizzi, Romina, Pericoli, Roberta, Breda, Luciana, Mura, Rossella, Podda, Rosa Anna, Onofrillo, Daniela, Lattanzi, Bianca, Tirtei, Elisa, Maggio, Maria Cristina, De Santis, Raffaela, Consolini, Rita, Arlotta, Annalisa, La Torre, Francesco, Mainardi, Chiara, Pelagatti, Maria Antonietta, Coassin, Elisa, Capolsini, Ilaria, Burnelli, Roberta, Tornesello, Assunta, Soscia, Francesca, De Fanti, Alessandro, Rigante, Donato, Pizzato, Cristina, De Fusco, Carmela, Abate, Massimo Eraldo, Roncadori, Andrea, Rossi, Elisa, Stabile, Giulia, Biondi, Andrea, Lepore, Loredana, Conter, Valentino, Rondelli, Roberto, Pession, Andrea, and Ravelli, Angelo

Published
2021
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8. Consensus statement from the international consensus meeting on post-traumatic cranioplasty

Author

Iaccarino, C., Kolias, A., Adelson, P. D., Rubiano, A. M., Viaroli, E., Buki, A., Cinalli, G., Fountas, K., Khan, T., Signoretti, S., Waran, V., Adeleye, A. O., Amorim, R., Bertuccio, A., Cama, A., Chesnut, R. M., De Bonis, P., Estraneo, A., Figaji, A., Florian, S. I., Formisano, R., Frassanito, P., Gatos, C., Germanò, A., Giussani, C., Hossain, I., Kasprzak, P., La Porta, F., Lindner, D., Maas, A. I. R., Paiva, W., Palma, P., Park, K. B., Peretta, P., Pompucci, A., Posti, J., Sengupta, S. K., Sinha, A., Sinha, V., Stefini, R., Talamonti, G., Tasiou, A., Zona, G., Zucchelli, M., Hutchinson, P. J., and Servadei, F.

Published
2021
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9. Hospital infections and health-related quality of life after cardiac surgery: a multicenter survey.

Author

Rijnhart-de Jong, Hilda G., Haenen, Jo, Porta, Fabiano, Timmermans, Marijke, Boerma, E. Christiaan, de Jong, Kim, on behalf of the participating centers of the Cardiothoracic Surgery Registration Committee of the Netherlands Heart Registration, Bramer, S., Daeter, E. J., Hoohenkerk, G. J. F., Markou, A. L. P., Speekenbrink, R. G. H., Segers, P., Stooker, W., Li, W. W. L., Bekkers, J. A., and Porta, F.

Subjects
NOSOCOMIAL infections, CARDIAC surgery, QUALITY of life, DISEASE risk factors, ELECTIVE surgery, DIABETES
Abstract

Background: Recent research suggested that hospital infections are a predictive marker for physical non-recovery one year after cardiothoracic surgery. The purpose of this study was to explore whether this risk factor is etiologic. Additional, the influence of a potential effect modifying factor, diabetes mellitus, was investigated. Methods: In this multicenter study, patients underwent elective or urgent cardiothoracic surgery between 01-01-2015 and 31-12-2019, and completed pre- and one year post-operative Short Form Health Survey 36/12 quality of life questionnaires. A binary logistic regression model, in which the inverse of the propensity score for infection risk was included as a weight variable, was used. Second, this analysis was stratified for diabetes mellitus status. Results: 8577 patients were included. After weighing for the propensity score, the standardized mean differences of all variables decreased and indicated sufficient balance between the infection and non-infection groups. Hospital infections were found to be a risk factor for non-recovery after cardiothoracic surgery in the original and imputed dataset before weighting. However, after propensity score weighing, hospital infections did not remain significantly associated with recovery (OR for recovery = 0.79; 95% CI [0.60–1.03]; p = 0.077). No significant interaction between diabetes mellitus and hospital infections on recovery was found (p = 0.845). Conclusions: This study could not convincingly establish hospital infections as an etiologic risk factor for non-improvement of physical recovery in patients who underwent cardiothoracic surgery. In addition, there was no differential effect of hospital infections on non-improvement of physical recovery for patients with and without diabetes mellitus. Trial registration International Clinical Trials Registry Platform ID NL9818; date of registration, 22-10-2021 (https://trialsearch.who.int/). [ABSTRACT FROM AUTHOR]

Published
2024
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10. National indication document and aortic valve replacement landscape in the Netherlands.

Author

Eerdekens, Rob, van Steenbergen, Gijs, El Farissi, Mohamed, Demandt, Jesse, van 't Veer, Marcel, Daeter, Edgar, Timmers, Leo, de Weger, Arend, Medendorp, Niki, Tonino, Pim, van den Branden, B., Vis, M.M., Tonino, W. A. L., van Mieghem, N. M. D. A., Schotborgh, C. E., Hermanides, R., van der Kley, F., Kats, S., Porta, F., and Stoel, M. G.

Subjects
AORTIC valve transplantation, MEDICAL personnel, NATIONAL health services, AORTIC valve, AORTIC stenosis
Abstract

Introduction: Based on European guidelines, transcatheter aortic valve implementation (TAVI) could be the therapy of choice in patients with severe aortic stenosis aged ≥ 75 years. In the Netherlands, there has been a debate between healthcare providers and the National Health Care Institute regarding reimbursement for TAVI, which resulted in an indication document that defines TAVI patients who are eligible for reimbursement. This document has been effective since 1 January 2021. Methods: We extracted data from the Netherlands Heart Registry for patients who underwent biological surgical aortic valve replacement (SAVR) or TAVI in the Netherlands from 2018 through 2021. We compared baseline characteristics and variables from the indication document for the subsequent years and age groups. We also analysed the annual SAVR/TAVI ratio. Results: The total number of patients treated with SAVR or TAVI was constant in 2018–2021. Baseline characteristics of patients treated with TAVI did not differ throughout the years. The SAVR/TAVI ratio shifted towards a higher percentage of TAVI from 2018 to 2019. From 2019 to 2020, the TAVI percentage was constant. Since the implementation of the indication document (in 2021), a change in the SAVR/TAVI ratio was not found either. Conclusion: Since the implementation of the national indication document for AVR in 2021, no major effect was seen for the SAVR versus TAVI landscape in the Netherlands. [ABSTRACT FROM AUTHOR]

Published
2023
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13. GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia

Author

Pession, A., Di Rocco, M., Venturelli, F., Tappino, B., Morello, W., Santoro, N., Giordano, P., Filippini, B., Rinieri, S., Russo, G., Girardi, K., Ruggiero, A., Galea, E., Antonucci, R., Tovaglieri, N., Porta, F., Tartaglione, I., Giona, F., Fagioli, F., Burlina, A., Mura, R., Russo, B., Tornesello, A., Menna, G., Russo, D., Caniglia, M., Schettini, S., Onofrillo, D., Ladogana, S., and Civino, A.

Subjects
Cytopenia, Splenomegaly, Lysosomal storage disease, Gaucher disease, Thrombocytopenia
Published
2023

16. Metastatic neuroblastoma in infants: are survival rates excellent only within the stringent framework of clinical trials?

Author

Di Cataldo, A., Agodi, A., Balaguer, J., Garaventa, A., Barchitta, M., Segura, V., Bianchi, M., Castel, V., Castellano, A., Cesaro, S., Couselo, J. M., Cruz, O., D’Angelo, P., De Bernardi, B., Donat, J., de Andoin, N. G., Hernandez, M. I., La Spina, M., Lillo, M., Lopez-Almaraz, R., Luksch, R., Mastrangelo, S., Mateos, E., Molina, J., Moscheo, C., Mura, R., Porta, F., Russo, G., Tondo, A., Torrent, M., Vetrella, S., Villegas, J. A., Viscardi, E., Zanazzo, G. A., and Cañete, A.

Published
2017
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17. Minimally invasive approach compared to resternotomy for mitral valve surgery in patients with prior cardiac surgery

Author

Olsthoorn, Jules R., Heuts, Samuel, Houterman, Saskia, Maessen, Jos G., Sardari Nia, Peyman, Bramer, S., van Boven, W. J. P., Vonk, A. B. A., Koene, B. M. J. A., Bekkers, J. A., Hoohenkerk, G. J. F., Markou, A. L. P., de Weger, A., Segers, P., Porta, F., Speekenbrink, R. G. H., Stooker, W., Li, W. W. L., Daeter, E. J., van der Kaaij, N. P., Douglas, Y., CTC, MUMC+: MA Med Staf Artsass CTC (9), RS: Carim - Vessels, MUMC+: MA Cardiothoracale Chirurgie (3), RS: Carim - V04 Surgical intervention, MUMC+: MA Med Staf Spec CTC (9), Cardio-thoracic surgery, ACS - Atherosclerosis & ischemic syndromes, ACS - Heart failure & arrhythmias, ACS - Microcirculation, and Cardiothoracic Surgery

Subjects
Pulmonary and Respiratory Medicine, Reoperation, Mitral valve surgery, Mitral Valve Insufficiency, General Medicine, Resternotomy, Sternotomy, Nationwide registry, Treatment Outcome, Minimally invasive mitral valve surgery, Humans, Minimally Invasive Surgical Procedures, Mitral Valve, Surgery, Cardiac Surgical Procedures, Cardiology and Cardiovascular Medicine, Netherlands, Retrospective Studies
Abstract

OBJECTIVES Mitral valve (MV) surgery after prior cardiac surgery is conventionally performed through resternotomy and associated with increased morbidity and mortality. Alternatively, MV can be approached minimally invasively [minimally invasive mitral valve surgery (MIMVS)], but longer-term follow-up of this approach for MV surgery after prior cardiac surgery is lacking. Therefore, the aim of the current study is to evaluate short- and mid-term outcomes of MIMVS versus MV surgery through resternotomy in patients with prior sternotomy, using a nationwide registry. METHODS Patients undergoing isolated MV surgery after prior cardiac surgery between 2013 and 2018 were included. Primary outcomes were short-term morbidity and mortality and mid-term survival. Cox proportional hazard analysis was used to investigate the association between surgical approach and mortality. Propensity score matching was used to correct for potential confounders. RESULTS In total, 290 patients underwent MV surgery after prior cardiac surgery, of whom 205 patients were operated through resternotomy and 85 patients through MIMVS. No significant differences in 30-day mortality (3.4% vs 2%, P = 0.99) were observed between both groups. Five-year survival was 86.3% in the resternotomy group, compared to 89.4% in the MIMVS group (log-rank P = 0.45). In the multivariable analysis, surgical approach showed no relation with mid-term mortality [hazard ratio 0.73 (0.34–1.60); P = 0.44]. A lower incidence of prolonged intubation and new-onset arrhythmia was observed in MIMVS. CONCLUSIONS MV surgery after prior cardiac surgery has excellent short- and mid-term results in the Netherlands, and MIMVS and resternotomy appear to be equally efficacious. MIMVS is associated with a lower incidence of new-onset arrhythmia and prolonged intubation.

Published
2022

19. OP0168 DEVELOPMENT OF AN ULTRASOUND SCORING SYSTEM FOR CPPD EXTENT: RESULTS FROM A DELPHI PROCESS AND WEB-RELIABILITY EXERCISE BY THE OMERACT US WORKING GROUP

Author

Sirotti, S., primary, Adinolfi, A., additional, Damiani, A., additional, Becce, F., additional, Cazenave, T., additional, Cipolletta, E., additional, Christiansen, S. N., additional, Delle Sedie, A., additional, Diaz, M., additional, Figus, F., additional, Filippucci, E., additional, Hammer, H. B., additional, Mandl, P., additional, Maccarter, D., additional, Micu, M., additional, Möller, I., additional, Mortada, M. A., additional, Mouterde, G., additional, Naredo, E., additional, Porta, F., additional, Reginato, A., additional, Sakellariou, G., additional, Schmidt, W. A., additional, Scirè, C. A., additional, Serban, T., additional, Vlad, V., additional, Vreju, F. A., additional, Wakefield, R., additional, Zufferey, P., additional, Sarzi-Puttini, P., additional, Iagnocco, A., additional, Pineda, C., additional, Keen, H., additional, D’agostino, M. A., additional, Terslev, L., additional, and Filippou, G., additional

Published
2022
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20. IMPACT OF DOUBLE-PIGTAIL PLASTIC STENTS IN THE ADVERSE EVENT RATE OF PANCREATIC FLUID COLLECTIONS, GALLBLADDER DRAINAGES AND CHOLEDOCHAL DRAINAGES USING LUMEN-APPOSING METAL STENTS

Author

Bazaga, S., additional, Garcia-Alonso, F.-J., additional, Aparicio Tormo, J.R., additional, Martínez-Moreno, B., additional, Sanchiz, V., additional, Suria, C., additional, Garcia-Sumalla, A., additional, Gornals, J.B, additional, Chavarría, C., additional, Loras, C., additional, García-Fernandez, F.J., additional, Terán, Á., additional, Vazquez-Sequeiros, E., additional, Pedraza Sanz, R., additional, Pérez-Carazo, L., additional, Subtil, J.C., additional, Pérez-Millán, A., additional, Uceda Porta, F., additional, Busto Bea, V., additional, de la Serna-Higuera, C., additional, Pinto Garcia, I., additional, Colán-Hernández, J., additional, Huertas, C., additional, Vilella Martorell, A., additional, Guardiola-Arevalo, A., additional, Castro Urda, J.L., additional, Nuñez-Otero, J., additional, Sánchez-Hernández, E., additional, Gonzalez-Huix, F., additional, de la Morena, F., additional, Villanueva Pavón, R., additional, Couto-Worner, I., additional, Guarner-Argente, C., additional, and Perez-Miranda, M., additional

Published
2022
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21. SAFETY AND FEASIBILITY OF LUMEN-APOSSING METAL STENTS REMOVALS. RESULTS FROM A PROSPECTIVE NATIONWIDE REGISTRY

Author

Bazaga, S., additional, Garcia-Alonso, F.J., additional, Aparicio Tormo, J.R., additional, Martinez Moreno, B., additional, Sanchiz, V., additional, Suria, C., additional, Garcia-Sumalla, A., additional, Gornals, J.B, additional, Loras, C., additional, Chavarría, C., additional, García-Fernandez, F.J., additional, Terán, Á., additional, Vazquez-Sequeiros, E., additional, Pedraza Sanz, R., additional, Pérez-Carazo, L., additional, Súbtil, J.C., additional, Pérez-Millan, A., additional, Uceda Porta, F., additional, Busto Bea, V., additional, de la Serna-Higuera, C., additional, Pinto García, I., additional, Colán-Hernández, J., additional, Huertas, C., additional, Vilella Martorell, A., additional, Guardiola-Arévalo, A., additional, Castro Urda, J.L., additional, Nuñez-Otero, J., additional, Sánchez-Hernández, E., additional, Gonzalez-Huix, F., additional, de la Morena, F., additional, Villanueva Pavón, R., additional, Couto-Worner, I., additional, Guarner-Argente, C., additional, and Perez-Miranda, M., additional

Published
2022
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22. Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome

Author

Albert, M.H., Slatter, M.A., Gennery, A.R., Gungor, T., Bakunina, K., Markovitch, B., Hazelaar, S., Sirait, T., Courteille, V., Aiuti, A., Aleinikova, O.V., Balashov, D., Bernardo, M.E., Bodova, I., Bruno, B., Cavazzana, M., Chiesa, R., Fischer, A., Hauck, F., Ifversen, M., Kalwak, K., Klein, C., Kulagin, A., Kupesiz, A., Kuskonmaz, B., Lindemans, C.A., Locatelli, F., Lum, S.H., Maschan, A., Meisel, R., Moshous, D., Porta, F., Sauer, M.G., Sedlacek, P., Schulz, A., Suarez, F., Vallee, T.C., Winiarski, J.H., Zecca, M., Neven, B., Veys, P., Lankester, A.C., EBMT, European Soc Immunodeficiencies ES, and Stem CELL Transplant Primary Immun

Subjects
Transplantation Conditioning, Immunology, Hematopoietic Stem Cell Transplantation, Graft vs Host Disease, Cell Biology, Hematology, Biochemistry, Tissue Donors, Wiskott-Aldrich Syndrome, Treatment Outcome, surgical procedures, operative, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, immune system diseases, Child, Preschool, Humans, Busulfan, Retrospective Studies
Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative treatment for patients affected by Wiskott-Aldrich syndrome (WAS). Reported HSCT outcomes have improved over time with respect to overall survival, but some studies have identified older age and HSCT from alternative donors as risk factors predicting poorer outcome. We analyzed 197 patients undergoing transplant at European Society for Blood and Marrow Transplantation centers between 2006 and 2017 who received conditioning as recommended by the Inborn Errors Working Party (IEWP): either busulfan (n = 103) or treosulfan (n = 94) combined with fludarabine ± thiotepa. After a median follow-up post-HSCT of 44.9 months, 176 patients were alive, resulting in a 3-year overall survival of 88.7% and chronic graft-versus-host disease (GVHD)-free survival (events include death, graft failure, and severe chronic GVHD) of 81.7%. Overall survival and chronic GVHD-free survival were not significantly affected by conditioning regimen (busulfan- vs treosulfan-based), donor type (matched sibling donor/matched family donor vs matched unrelated donor/mismatched unrelated donor vs mismatched family donor), or period of HSCT (2006-2013 vs 2014-2017). Patients aged

Published
2022

24. Effect of minimally invasive mitral valve surgery compared to sternotomy on short- and long-term outcomes: a retrospective multicentre interventional cohort study based on Netherlands Heart Registration

Author

Olsthoorn, Jules R., Heuts, Samuel, Houterman, Saskia, Maessen, Jos G., Sardari Nia, Peyman, Bramer, S., van Boven, W. J. P., Vonk, A. B. A., Koene, B. M. J. A., Bekkers, J. A., Hoohenkerk, G. J. F., Markou, A. L. P., Weger, A. De, Segers, P., Porta, F., Speekenbrink, R. G. H., Stooker, W., Li, W. W. L., Daeter, E. J., van der Kaaij, N. P., Vigano, G., RS: Carim - Vessels, MUMC+: MA Med Staf Artsass CTC (9), CTC, MUMC+: MA Cardiothoracale Chirurgie (3), RS: Carim - V04 Surgical intervention, MUMC+: MA Med Staf Spec CTC (9), Cardiothoracic Surgery, and ACS - Heart failure & arrhythmias

Subjects
REPAIR, Pulmonary and Respiratory Medicine, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Mitral valve surgery, SOCIETY, General Medicine, Sternotomy, Cohort Studies, OPERATIONS, Nationwide registry, Treatment Outcome, Minimally invasive mitral valve surgery, VOLUME, Humans, Minimally Invasive Surgical Procedures, Mitral Valve, Surgery, Cardiology and Cardiovascular Medicine, Mitral valve repair, Netherlands, Retrospective Studies
Abstract

OBJECTIVES Minimally invasive mitral valve surgery (MIMVS) has been performed increasingly for the past 2 decades; however, large comparative studies on short- and long-term outcomes have been lacking. This study aims to compare short- and long-term outcomes of patients undergoing MIMVS versus median sternotomy (MST) based on real-world data, extracted from the Netherlands Heart Registration. METHODS Patients undergoing mitral valve surgery, with or without tricuspid valve, atrial septal closure and/or rhythm surgery between 2013 and 2018 were included. Primary outcomes were short-term morbidity and mortality and long-term survival. Propensity score matching analyses were performed. RESULTS In total, 2501 patients were included, 1776 were operated through MST and 725 using an MIMVS approach. After propensity matching, no significant differences in baseline characteristics persisted. There were no between-group differences in 30-day mortality (1.1% vs 0.7%, P = 0.58), 1-year mortality (2.6% vs 2.1%, P = 0.60) or perioperative stroke rate (1.1% vs 0.6%, P = 0.25) between MST and MIMVS, respectively. An increased rate of postoperative arrhythmia was observed in the MST group (31.3% vs 22.4%, P CONCLUSIONS The MIMVS approach is as safe as the sternotomy approach for the surgical treatment of mitral valve disease. However, it comes at a cost of a reduced repair rate and more reinterventions in the long term, in the real-world.

Published
2022

25. External validation of existing prediction models of 30-day mortality after Transcatheter Aortic Valve Implantation (TAVI) in the Netherlands Heart Registration

Author

Al-Farra, Hatem, Abu-Hanna, Ameen, de Mol, Bas A. J. M., ter Burg, W. J., Houterman, Saskia, Henriques, José P. S., Ravelli, Anita C. J., Vis, M. M., Vos, J., ten Berg, J., Tonino, W. A. L., Schotborgh, C. E., Roolvink, V., Porta, F., Stoel, M., Kats, S., Amoroso, G., van der Werf, H. W., Stella, P. R., de Jaegere, P., Cardiology, Medical Informatics, APH - Aging & Later Life, APH - Methodology, Cardiothoracic Surgery, ACS - Atherosclerosis & ischemic syndromes, APH - Quality of Care, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, APH - Health Behaviors & Chronic Diseases, and ACS - Heart failure & arrhythmias

Subjects
medicine.medical_specialty, Transcatheter aortic, Brier skill score, 030204 cardiovascular system & hematology, Risk Assessment, Transcatheter Aortic Valve Replacement, 03 medical and health sciences, Transcatheter aortic valve implantation (TAVI), 0302 clinical medicine, Risk Factors, Prediction model, Internal medicine, Discrimination, medicine, Humans, 030212 general & internal medicine, Mortality, Netherlands, Heart Valve Prosthesis Implantation, Ejection fraction, business.industry, External validation, EuroSCORE, Aortic Valve Stenosis, Treatment Outcome, Brier score, Aortic Valve, Cohort, Calibration, Cardiology, France, Cardiology and Cardiovascular Medicine, business, Predictive modelling
Abstract

Background: Several mortality prediction models (MPM) are used for predicting early (30-day) mortality following transcatheter aortic valve implantation (TAVI). Little is known about their predictive performance in external TAVI populations. We aim to externally validate established MPMs on a large TAVI dataset from the Netherlands Heart Registration (NHR). Methods: We included data from NHR-patients who underwent TAVI during 2013–2017. We calculated the predicted mortalities per MPM. We assessed the predictive performance by discrimination (Area Under Receiver Operating-characteristic Curve, AU-ROC); the Area Under Precision-Recall Curve, AU-PRC; calibration (using calibration-intercept and calibration-slope); Brier Score and Brier Skill Score. We also assessed the predictive performance among subgroups: tertiles of mortality-risk for non-survivors, gender, and access-route. Results: We included 6177 TAVI-patients with an observed early-mortality rate of 4.5% (n = 280). We applied seven MPMs (STS, EuroSCORE-I, EuroSCORE-II, ACC-TAVI, FRANCE-2, OBSERVANT, and German-AV) on our cohort. The highest AU-ROCs were 0.64 (95%CI 0.61–0.67) for ACC-TAVI and 0.63 (95%CI 0.60–0.67) for FRANCE-2. All MPMs had a very low AU-PRC of ≤0.09. ACC-TAVI had the best calibration-intercept and calibration-slope. Brier Score values ranged between 0.043 and 0.063. Brier Skill Score ranged between −0.47 and 0.004. ACC-TAVI and FRANCE-2 predicted high mortality-risk better than other MPMs. ACC-TAVI outperformed other MPMs in different subgroups. Conclusion: The ACC-TAVI model has relatively the best predictive performance. However, all models have poor predictive performance. Because of the poor discrimination, miscalibration and limited accuracy of the models there is a need to update the existing models or develop new TAVI-specific models for local populations.

Published
2020

26. Mesoporous silica nanoparticles as a compound delivery system in zebrafish embryos

Author

Kros A, Meijer AH, Richardson MK, Porta F, and Sharif F

Subjects
Medicine (General), R5-920
Abstract

Faiza Sharif1,*, Fabiola Porta2,*, Annemarie H Meijer3, Alexander Kros2, Michael K Richardson1, 1Department of Integrative Zoology, Institute of Biology, 2Leiden Institute of Chemistry, 3Department of Molecular Cell Biology, Institute of Biology, Gorlaeus Laboratories, Leiden University, Leiden, The Netherlands*These authors contributed equally to this workAbstract: Silica nanoparticles can be efficiently employed as carriers for therapeutic drugs in vitro. Here, we use zebrafish embryos as a model organism to see whether mesoporous silica nanoparticles (MSNPs) can be incorporated to deliver compounds in vivo. We injected 35–40 nL (10 mg/mL) of custom-synthesized, fluorescently-tagged 200 nm MSNPs into the left flank, behind the yolk sac extension, of 2-day-old zebrafish embryos. We tracked the distribution and translocation of the MSNPs using confocal laser scanning microscopy. Some of the particles remained localized at the injection site, whereas others entered the bloodstream and were carried around the body. Embryo development and survival were not significantly affected by MSNP injection. Acridine orange staining revealed that MSNP injections did not induce significant cell death. We also studied cellular immune responses by means of lysC::DsRED2 transgenic embryos. MSNP-injected embryos showed infiltration of the injection site with neutrophils, similar to controls injected with buffer only. In the same embryos, counterstaining with L-plastin antibody for leukocytes revealed the same amount of cellular infiltration of the injection site in embryos injected with MSNPs or with buffer only. Next, we used MSNPs to deliver two recombinant cytokines (macrophage colony-stimulating factor and receptor for necrosis factor ligand) to zebrafish embryos. These proteins are known to activate cells involved in bone remodeling, and this can be detected with the marker tartrate-resistant acid phosphatase. Coinjection of these proteins loaded onto MSNPs produced a significant increase in the number of tartrate-resistant acid phosphatase-positive cells after 2–3 days of injection. Our results show that MSNPs can be used to deliver bioactive compounds into zebrafish larvae without producing higher mortality or gross evidence of teratogenicity.Keywords: mesoporous silica nanoparticles, toxicity, immune cells, TRAcP, L-plastin, lysozyme

Published
2012

28. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Author

van Wegberg, Annemiek M.J., primary, Trefz, Friedrich, additional, Gizewska, Maria, additional, Ahmed, Sibtain, additional, Chabraoui, Layachi, additional, Zaki, Maha S., additional, Maillot, François, additional, van Spronsen, Francjan J., additional, Ahring, K., additional, Al Mutairi, F., additional, Arnoux, J.B., additional, Ballhausen, D., additional, Baruteau, J., additional, Bernstein, L., additional, Bijarnia-Mahay, S., additional, Boemer, F., additional, Bordugo, A., additional, Brodosi, L., additional, Brooks, S., additional, Chew, H.B., additional, Chyz, K., additional, Coker, M., additional, Collingwood, C., additional, Cornejo, V., additional, Couce, M.L., additional, Cozens, A., additional, Dahri, S., additional, Das, A.M., additional, de Laet, C., additional, de las Heras Montero, J., additional, de Vreugd, A., additional, Debray, F.G., additional, Dercksen, M., additional, Descartes, M., additional, Diogo, L., additional, Drogari, E., additional, Eiroa, H., additional, Eminoglu, F.T., additional, Enns, G.M., additional, Eyskens, F., additional, Feillet, F., additional, Ford, S., additional, Franzson, L., additional, Freisinger, P., additional, Garcia, P., additional, Grafakou, O., additional, Gramer, G., additional, Gray, S., additional, Groselj, U., additional, Grünert, S.C., additional, Haas, D., additional, Handoom, B., additional, Harte, T.B., additional, Hendriksz, C., additional, Heredia, R.S., additional, Hertecant, J., additional, Hoi-Yee Wu, T., additional, Inwood, A., additional, Jamuar, S.S., additional, Jesina, P., additional, Jonsson, J.J., additional, Jovanovic, A., additional, Kern, I., additional, Kilavuz, S., additional, Knerr, I., additional, Kor, D., additional, Korycinska-Chaaban, D., additional, Kreile, M., additional, Kumru, B., additional, Lanpher, B., additional, Lapatto, R., additional, Lavigne, C., additional, Leao-Teles, E., additional, Leuzzi, V., additional, Longo, N., additional, Lopez-Uriarte, A., additional, Lubout, C.M.A., additional, MacDonald, A., additional, Megdad, E.M., additional, Mitchell, J., additional, Mochel, F., additional, Moreno-Lozano, P.J., additional, Morris, A., additional, Moura de Souza, C.F., additional, Munoz, T., additional, Nevalainen, P.I., additional, Oscarson, M., additional, Õunap, K., additional, Paci, S., additional, Pastores, G.M., additional, Pearl, P.L., additional, Piazzon, F.B., additional, Pitt, J., additional, Poon, G., additional, Porta, F., additional, Presner, N., additional, Rabaty, A.A., additional, Reinson, K., additional, Reismann, P., additional, Rink, T., additional, Rocha, J.C., additional, Rodrigues, E., additional, Saini, A.G., additional, Sanchez-Valle, A., additional, Sander, J., additional, Sarkhail, P., additional, Schwartz, I.V.D., additional, Sharma, R., additional, Sheng, B., additional, Siriwardena, K., additional, Sirrs, S., additional, Sjarif, D.R., additional, Sondheimer, N., additional, Sparkes, R., additional, Specola, N., additional, Stepien, K.M., additional, Szatmari, I., additional, Tchan, M., additional, Tkemaladze, T., additional, Tran, C., additional, Valle, M.G., additional, Vela-Amieva, M., additional, Verdaguer, M.L., additional, Vergano, S.A., additional, Vermeersch, P., additional, Vulturar, R., additional, Wagenmakers, M.A.E.M., additional, Weinhold, N., additional, Williams, A.B., additional, Wilson, W.G., additional, Zafeiriou, D., additional, Zhang, H., additional, Ziagaki, A., additional, and Zolkowska, J., additional

Published
2021
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30. Musculoskeletal manifestations of childhood cancer and differential diagnosis with juvenile idiopathic arthritis (ONCOREUM): a multicentre, cross-sectional study

Author

Civino, Adele, primary, Alighieri, Giovanni, additional, Prete, Eleonora, additional, Caroleo, Anna Maria, additional, Magni-Manzoni, Silvia, additional, Vinti, Luciana, additional, Romano, Micol, additional, Santoro, Nicola, additional, Filocamo, Giovanni, additional, Belotti, Tamara, additional, Santarelli, Francesca, additional, Gorio, Chiara, additional, Ricci, Francesca, additional, Colombini, Antonella, additional, Pastore, Serena, additional, Cesaro, Simone, additional, Barone, Patrizia, additional, Verzegnassi, Federico, additional, Olivieri, Alma Nunzia, additional, Ficara, Monica, additional, Miniaci, Angela, additional, Russo, Giovanna, additional, Gallizzi, Romina, additional, Pericoli, Roberta, additional, Breda, Luciana, additional, Mura, Rossella, additional, Podda, Rosa Anna, additional, Onofrillo, Daniela, additional, Lattanzi, Bianca, additional, Tirtei, Elisa, additional, Maggio, Maria Cristina, additional, De Santis, Raffaela, additional, Consolini, Rita, additional, Arlotta, Annalisa, additional, La Torre, Francesco, additional, Mainardi, Chiara, additional, Pelagatti, Maria Antonietta, additional, Coassin, Elisa, additional, Capolsini, Ilaria, additional, Burnelli, Roberta, additional, Tornesello, Assunta, additional, Soscia, Francesca, additional, De Fanti, Alessandro, additional, Rigante, Donato, additional, Pizzato, Cristina, additional, De Fusco, Carmela, additional, Abate, Massimo Eraldo, additional, Roncadori, Andrea, additional, Rossi, Elisa, additional, Stabile, Giulia, additional, Biondi, Andrea, additional, Lepore, Loredana, additional, Conter, Valentino, additional, Rondelli, Roberto, additional, Pession, Andrea, additional, Ravelli, Angelo, additional, Amatruda, M, additional, Atzeni, C, additional, Bertolini, P, additional, Bigucci, B, additional, Caniglia, M, additional, Cappella, M, additional, Cattalini, M, additional, Cefalo, MG, additional, Cellini, M, additional, Cortis, E, additional, Davì, S, additional, De Benedetti, F, additional, Di Cataldo, A, additional, Fabbri, E, additional, Fagioli, F, additional, Fontanili, I, additional, Garaventa, A, additional, Gicchino, MF, additional, Ladogana, S, additional, Locatelli, F, additional, Magnolato, A, additional, Marsili, M, additional, Martino, S, additional, Mascarin, M, additional, Messina, C, additional, Micalizzi, C, additional, Porta, F, additional, and Rizzari, C, additional

Published
2021
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34. Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III

Author

Bakhtiar, S., Salzmann-Manrique, E., Blok, H.J., Eikema, D.J., Hazelaar, S., Ayas, M., Toren, A., Goldstein, G., Moshous, D., Locatelli, F., Merli, P., Michel, G., Ozturk, G., Schulz, A., Heilmann, C., Ifversen, M., Wynn, R.F., Aleinikova, O., Bertrand, Y., Tbakhi, A., Veys, P., Karakukcu, M., Kupesiz, A., Ghavamzadeh, A., Handgretinger, R., Unal, E., Perez-Martinez, A., Gokce, M., Porta, F., Aksu, T., Karasu, G., Badell, I., Ljungman, P., Skorobogatova, E., Yesilipek, A., Zuckerman, T., Bredius, R.R.G., Stepensky, P., Shadur, B., Slatter, M., Gennery, A.R., Albert, M.H., Bader, P., Lankester, A., Pediat Dis Working Party, and Inborn Errors Working Party EBMT

Subjects
surgical procedures, operative
Abstract

Type I and III leukocyte adhesion deficiencies (LADs) are primary immunodeficiency disorders resulting in early death due to infections and additional bleeding tendency in LAD-III. The curative treatment of LAD-I and LAD-III is allogeneic hematopoietic stem cell transplantation (allo-HSCT). In this retrospective multicenter study, data were collected using the European Society for Blood and Marrow Transplantation registry; we analyzed data from 84 LAD patients from 33 centers, all receiving an allo-HSCT from 2007 to 2017. The 3-year overall survival estimate (95% confidence interval [CI]) was 83% (74-92) for the entire cohort: 84% (75-94) and 75% (50-100) for LAD-I and LAD-III, respectively. We observed cumulative incidences (95% CI) of graft failure (GF) at 3 years of 17% (9%-26%) and grade II to IV acute graft-versus-host disease (aGVHD) at 100 days of 24% (15%-34%). The estimate (95% CI) at 3 years for GF- and GVHD-II to IV-free survival as event-free survival (EFS) was 56% (46-69) for the entire cohort; 58% (46-72) and 56% (23-88) for LAD-I and LAD-III, respectively. Grade II to IV acute GVHD was a relevant risk factor for death (hazard ratio 3.6; 95% CI 1.4-9.1; P = .006). Patients' age at transplant >= 13 months, transplantation from a nonsibling donor, and any serological cytomegalovirus mismatch in donor-recipient pairs were significantly associated with severe acute GVHD and inferior EFS. The choice of busulfan- or treosulfan-based conditioning, type of GVHD prophylaxis, and serotherapy did not impact overall survival, EFS, or aGVHD. An intrinsic inflammatory component of LAD may contribute to inflammatory complications during allo-HSCT, thus providing the rationale for considering anti-inflammatory therapy pretreatment.

Published
2021

35. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Author

Kuseyri Hübschmann, O. Horvath, G. Cortès-Saladelafont, E. Yıldız, Y. Mastrangelo, M. Pons, R. Friedman, J. Mercimek-Andrews, S. Wong, S.-N. Pearson, T.S. Zafeiriou, D.I. Kulhánek, J. Kurian, M.A. López-Laso, E. Oppebøen, M. Kılavuz, S. Wassenberg, T. Goez, H. Scholl-Bürgi, S. Porta, F. Honzík, T. Santer, R. Burlina, A. Sivri, H.S. Leuzzi, V. Hoffmann, G.F. Jeltsch, K. Hübschmann, D. Garbade, S.F. Assmann, B. Fung, C.-W. Guder, P. Hong, S.T.K. Karall, D. Kato, M. Kavecan, I. Koht, J.A. Kuster, A. Lücke, T. Manti, F. Mir, P. Mühlhausen, C. Önenli Mungan, H.N. Palacios, N.A.J. Ramos, J.A.F. Steel, D. Stevanović, G. Sykut-Cegielska, J. Verbeek, M.M. García-Cazorla, A. Opladen, T. iNTD Registry Study Group

Abstract

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders. © 2021, The Author(s).

Published
2021

36. Correction to: Tocilizumab for patients with COVID-19 pneumonia. The single-arm TOCIVID-19 prospective trial (Journal of Translational Medicine, (2020), 18, 1, (405), 10.1186/s12967-020-02573-9)

Author

Perrone, F., Piccirillo, M. C., Ascierto, P. A., Salvarani, C., Parrella, R., Marata, A. M., Popoli, P., Ferraris, L., Marrocco-Trischitta, M. M., Ripamonti, D., Binda, F., Bonfanti, P., Squillace, N., Castelli, F., Muiesan, M. L., Lichtner, M., Calzetti, C., Salerno, N. D., Atripaldi, L., Cascella, M., Costantini, M., Dolci, G., Facciolongo, N. C., Fraganza, F., Massari, M., Montesarchio, V., Mussini, C., Negri, E. A., Botti, G., Cardone, C., Gargiulo, P., Gravina, A., Schettino, C., Arenare, L., Chiodini, P., Gallo, C., Vitale, M. G., Trojaniello, C., Palla, M., Bianchi, A. A. M., De Feo, G., Miscio, L., Chiodiniy, P., Froldi, M., Menicanti, L., Cuppone, M. T., Gobbo, G., Baldessari, C., Valenti, V., Castelvecchio, S., Poli, F., Giacomazzi, F., Piccinni, R., Annnunziata, M. L., Biondi, A., Bussolari, C., Mazzoleni, M., Giachi, A., Filtz, A., Manini, A., Poletti, E., Masserini, F., Conforti, F., Gaudiano, G., Favero, V., Moroni, A., Viva, T., Fancoli, F., Ferrari, D., Niro, D., Resta, M., Ballotta, A., Poli, M. D., Ranucci, M., Tebaldi, A., Gritti, G., Pasulo, L., Gaglio, L., Del Fabbro, R., Alborghetti, L., Giustinetti, G., Columpsi, P., Cazzaniga, M., Capici, S., Sala, L., Di Sciacca, R., Mosca, G., Pirozzi, M. R., Franceschini, F., Roccaro, A., Salvetti, M., Paini, A., Corda, L., Ricci, C., Tomasoni, L., Nasta, P., Lorenzotti, S., Odolini, S., Foca, E., Roldan, E. Q., Metra, M., Magrini, S., Borghetti, P., Latronico, N., Piva, S., Filippini, M., Tomasi, G., Zuccala, F., Cattaneo, S., Scolari, F., Bossini, N., Gaggiotti, M., Properzi, M., Del Borgo, C., Marocco, R., Belvisi, V., Tieghi, T., De Masi, M., Zuccala, P., Fabietti, P., Vetica, A., Mercurio, V. S., Carraro, A., Fondaco, L., Kertusha, B., Curtolo, A., Del Giudice, E., Lubrano, R., Zotti, M. G., Puorto, A., Ciuffreda, M., Sarni, A., Monteforte, G., Romeo, D., Viola, E., Damiani, C., Barone, A., Mantovani, B., Di Sanzo, D., Gentili, V., Carletti, M., Aiuti, M., Gallo, A., Meliante, P. G., Martellucci, S., Riggio, O., Cardinale, V., Ridola, L., Bragazzi, M. C., Gioia, S., Valenzi, E., Graziosi, C., Bina, N., Fasolo, M., Ricci, S., Gioacchini, M. T., Lucci, A., Corso, L., Tornese, D., Nijhawan, P., Equitani, F., Cosentino, C., Palladino, M., Leonetti, F., Leto, G., Gnessi, C., Campagna, G., Cesareo, R., Marrocco, F., Straface, G., Mecozzi, A., Cerbo, L., Isgro, V., Parrocchia, S., Visconti, G., Casati, G., Ariani, A., Donghi, L., Tacconelli, E., Bertoldi, M., Cattaneo, P., Lambertenghi, L., Motta, L., Omega, L., Albano, G., Scarano, F., De Rosa, A., Buglione, A., Lavoretano, S., Gaglione, G., De Marco, M., Sangiovanni, V., Fusco, F. M., Viglietti, R., Manzillo, E., Rescigno, C., Pisapia, R., Plamieri, G., Maraolo, A., Calabria, G., Catalano, M., Fiorentino, G., Annunziata, A., Polistina, G., Imitazione, P., Mollica, M., Esposito, V., D'Abraccio, M., Punzi, R., Bianco, V., Sbreglia, C., Del Vecchio, R. F., Bordonali, A., Franco, A., Salsi, P., Fontana, M., Virzi, G., Calderone, O., Molteni, A., Gennarini, S., Gnudi, U., Ricci, M. A., Titolo, G., Mensi, G., Vuotto, P., Gasperini, B., Mancini, M., Pasquini, Z., Spanu, P., Clementi, S., Pierini, S., Bokor, D., Gori, D., Ciofetti, M., Caimi, M., Bettazzi, L., Allevi, E., Furiani, S., Capitanio, C., Mastropasqua, B., Fara, C., Pulitano, G., Matsuno, J. S., Porta, F. D., Dolfini, V., Beyene, N. B., Bezzi, M., Novali, M., Viale, P., Tedeschi, S., Pascale, R., Bruno, R., Di Filippo, A., Sachs, M., Oggionni, T., Di Stefano, M., Mengoli, C., Facchini, C., De Nardo, D., Frausini, G., Mucci, L., Tedesco, S., Girolimetti, R., Manfredini, E., Di Carlo, A. M., Espinosa, E., Dennetta, D., Ticinesi, A., Meschi, T., Nouvenne, A., Norbiato, C., Vitale, F., Saracco, M., Codeluppi, M., Fronti, E., Ferrante, P., Nespola, G. A., Francisci, D., Tosti, A., Carbonelli, C. M., Greco, A., Tinti, M. G., Stellini, R., Appiani, C., Reghenzi, P., Poletti, V., Ravaglia, C., Tacconi, D., Malcontenti, C., Sainaghi, P. P., Landi, R., Vassia, V., Rizzi, E., Bellan, M., Rossati, A., Castello, L., Mastroianni, C. M., Russo, G., Toffoletto, F., Serino, F. S., Brollo, L., Momesso, E., Turati, M. L., Monforte, A. D., Marchetti, G., Boni, F., Teopompi, E., Trenti, C., Boracchia, L., Minelli, E., Ghidoni, G., Matei, A., Caruso, A., Arcoleo, G., Camarda, G., Catalano, F., Spatafora, M., Bettega, D., Andreoni, M., Teti, E., Sarmati, L., Di Lorenzo, A., Celeste, M., Baratto, F., Monticelli, J., Criveller, P., Antonini, A., Anselmo, Riccio, Castellano, M., Cappelli, C., Corvini, F., Zanini, B., Crippa, M., Ronconi, M., Costa, R., Casella, S., Brentana, L., Bernardi, L., Frascati, A., Panese, S., Presotto, F., Michieletto, L., Bernardi, C., Fusar, M., Agnoletti, V., Farina, M., Russo, Lavorini, F., Ginanni, R., Palmieri, F., Mosti, S., Amaglio, A., Cattaneo, A., Cirri, S., Montisci, A., Gallazzi, C., Cosseta, D., Baronio, B., Rampa, L., Maggi, P., Messina, V., Sabatti, M. C., Palumbo, M., Mazzone, A., Faggioli, P., Bussini, L., Fornaro, G., Volpato, F., Imperiale, D., Manno, E., Ferreri, E., Martelli, D., Verhovez, A., Giorgis, S., Faccio, L., Delli Quadri, R., Negro, C., Converso, M., Bosco, F., Amadosi, S., Prandini, P., Cocchi, S., Manfrin, V., Del Punta, V., Mazzola, G., Sportato, G., Romagnoli, M., Cristini, F., Facondini, F., Perin, T., Boschi, A., Meschiari, M., Guaraldi, G., Modica, S., Moneta, S., Boccalatte, D., Marchetti, V., Amadasi, S., Ebbreo, G., Dale, M., Tura, P., Rizzoni, D., Boari, G. E. M., Bonetti, S., Marini, E., Daniele, I., Grossi, P. A., Delfrate, N. W., Bernhart, O., Spizzo, G., Mahlknecht, K., Volkl, T., Di Pietro, M. A., Trezzi, M., Monacci, C., Peris, A., Bonizzoli, M., Cavanna, L., Moroni, C., Stroppa, E. M., Savio, M. C., Gatti, F., Bartolaminelli, C., Petrosillo, N., Donno, D. R., Taglietti, F., Topino, S., Chinello, P., Galati, V., D'Offizi, G., Taibi, C., Cimolato, B., Moroni, F., Palagano, N., Pelagatti, L., Seravalle, C., Landini, G., Amitrano, M., Raimondo, M., Mangiacapra, S., Romano, A., Atteno, M., Blanc, P., Suardi, L. R., Pallotto, C., Casinelli, K., Uccella, I., Harari, S., Caminati, A., Lipani, F., Di Perri, G., Calcagno, A., Calleri, G., Montrucchio, C., Caputo, A. M., Cozzio, S., Delle Donne, L., Bassetti, M., Malgorzata, M., Nicolini, L. A., Russo, C., Sepulcri, C., Beltramini, S., Mina, F., Puoti, M., Gandino, A., Langer, T., D'Amico, F., Berlendis, M., Rocchetti, C., Cettolo, F., Fausini, G., Bocchi, P., Cioni, G., Cappi, C., Corcione, S., De Rosa, F. G., Scabini, S., Canta, F., Mornese Pinna, S., Pensa, A., Rocco, M., Cirasa, M. T., Spinicci, M., Mencarini, J., Zammarchi, L., Cenderello, G., Sciole, K., Bassi, F., Bianchi, M., Frigerio, S., Spaziani, S., Nucera, A., Rizzardini, G., Cossu, M. V., Antivalle, M., Carpinteri, G., Macheda, S., Labate, D., Bottiroli, M., Erne, E. M., Cristina, Z., Di Biase, V., Malberti, F., Montani, G., Poisa, P., Bettini, D., Cauda, R., Ciccullo, A., Riccardi, N., Angheben, A., Turrini, M., Clerici, R., Gardellini, A., Liparulo, L., Rossini, T., Ucciferri, C., Cipollone, F., Vecchiet, J., Nico, A., Marra, L., Leone, A., Sdanganelli, A., Palmiotti, G. A., D'Alagni, G., Santantonio, T. A., Lo Caputo, S., Bottalico, I., Ponticiello, A., Di Perna, F., Bernardi, E., Beltrame, A., Bravi, S., David, M., Bernardi, P., Galante, D., Uccelli, M. C., Prestini, K., Drera, M., Zini, E., Peregrinelli, A., Blanzuoli, L., Benedetti, V., Calvi, R., Scaglione, N., Nallino, G., Bonazzi, M., Crespi, T., Masolin, T., Regazzetti, A., Cerri, M. C., Maffezzini, E., Piazza, M., Papetti, C., De Filippi, C., Roveda, E., Cipolla, G., Scozzafava, M., Crepaldi, M., Henchi, S., Vanoni, N., Repossi, A., Vezzoli, M., Scorletti, E., Perugini, O., Pasini, S. M., Pacetti, V., Ferrari, L., de Paduanis, G. A., del Duca, S., Dell'Ara, F., Brocchieri, A., Minoja, G., Storti, E., Pitagora, L., Costa, I., Delfanti, F., Orlandi, M., Ruggeri, R., Ruggieri, L., Livigni, S., Silengo, D., Ageno, W., Pedrini, L., Artiol, S., Morbidoni, L., De Donno, G., Ravagnani, V., Inglese, F., Scotton, P. G., Costantini, P., Delucchi, M., Clini, E., Ansuini, A., Baiocchi, M., Lain, G., Vincenzo, B., Rastelli, G., Doria, A., Vianello, A., Cattelan, A. M., Bindoli, S., Felicietti, M., Canetta, C., Scartabellati, A., Accordino, S., Ferrara, M., Cocco, L., Cirillo, F., Pace, E., De Caro, M., Alberico, M., Benigni, G., Damiano, T., Fusco, P., Iuorio, A., Torretta, G., Racagni, M., Muttini, S., Sala, G., Ghiringhelli, P., Chiumiento, F., Baccari, L., Bocchi, F., Benatti, F., Catellani, J., Coppola, M., Papi, A., Bosco, E., Lazzeri, C., Cesira, N., Puttini, C., Carli, T., Croci, L., Corridi, M., Arlotti, M., Guerrini, G., Cola, L., Romanelli, M., Bonifazi, M., Gasparini, S., Mei, F., Cerutti, E., Lacedonia, D., Santoro, A., Guidelli, G. M., Greco, S., Castellan, A., Infantino, G., Camici, L., Covani Frigieri, F. C., Pavoni, V., Migliori, L., Rossetti, B., Montagnini, F., Mauro, I., Genovese, E., Capuozzo, A., Vitiello, L., Sirignano, E., Gnesin, P., Servillo, G., Marinelli, A., Pasero, D., Babudieri, S., Madeddu, G., De Vito, A., Casadio, L., Ranghitta, M., Passalacqua, R., Fioravanti, A., Gentile, I., Buonomo, A. R., Scotto, R., Zappulo, E., Dell'Aquila, G., Bianchetti, A., Guerini, F., Vallone, A., Oppedisano, P., Pusterla, L., Giglio, O., Sartori, E., Zanardini, C., Gatti, P., Valiani, V., Piconi, S., Molteni, C., Dognini, G., Cosimo, F., Guarneri, L., Pulvirenti, F., Mondino, V., Traballi, G., Iemoli, E., Grisolia, A., Giorgi, R., Nucera, G., Raffaelli, V., Marino, P., Negro, E., Serati, L., Tamanini, S., Iacobello, C., Strano, G., Boglione, L., Catania, A., Gipponi, P., Di Cato, L., Panaccione, A., Vitale, G., Crippa, I. A., Giacomini, M., Basile, A., Bellone, A., Tundo, P., Buzzigoli, S., Palmiero, G., Magnaca, A., Silva, M., Ricci, M., Crespi, S., Pasquino, B., Consales, G., Bragantini, D., Mastroianni, F., Righetti, G., Scarafino, A., Bitetto, M., Franzetti, F., Piga, S., Delmonte, V., Carbonara, S., Losappio, R., Dejaco, C., Mastroianni, C., Del Bono, V., Gilioli, F., Barzan, D., De Struppi, S., Carlotto, A., Guadagnin, M. L., Girardis, M., Bertellini, E., Dentali, F., Foresta, G., Baratta, A., Viviani, R., Agrati, A. M., Perego, G. B., Montineri, A., Manuele, R., Bonfante, S., Aquilini, D., Prozzo, A., Santopuoli, D., Di Rosa, Z., Alborghetti, A., Peci, P., Bakhtadze, N., Pandini, C. S., Ashofarir, N., Casella, G., Spagnolli, W., Urru, S., Marchesoni, I., Caminiti, G., Argilloni, E., Danieli, E., Ghirardi, G., Antonioli, C. M., Lipari, A., Zavarise, P., Kokaly, F., Polati, E., Gottin, L., Lucernoni, P., De Conti, F., Marcon, E., Pontali, E., Vacca, E. B., Saffioti, C., Zunino, A., Pognuz, E. R., Berlot, G., Saltori, M., Tedesco, A., Agostini, C., Di Rosolini, M. A., Marino, F., Bellinzona, G., Grassi, W., Di Carlo, M., Scimonello, G., Nonini, S., Mondino, M., Mantovani, L. F., Tenti, E., Tropea, C. M. G., Di Stefano, D. E., Guelfi, P., Dagna, L., Morgana, G., Montemurro, L., Girelli, D., Crisafulli, E., Maroccia, A., Cemuschi, A. M., Bernasconi, M., Zummo, U., Barbato, V., Bevilacqua, S., Buonfanti, G., Canzanella, G., De Matteis, G., Florio, M., Martino, M., Ribecco, M. T., Romano, F., Savio, A., Sparavigna, L., Curvietto, M., Citarella, M., Nava, V., Maggioni, P., Magni, M., Iommelli, C., Bianco, A., Corsini, R., Valli, L., Ruggieri, M. P., Melica, T., Ferrari, A., Cicognini, D., Delliponti, M., Zuccarini, A., Ciani, S., Raffaeli, D., Donati, L., Cannizzo, S., Lui, S., Santini, L., Roncaglia, E., Mighali, P., Eisendle, F., Cerino, G., Citterio, C., Di Nunzio, C., Mancini, A., Lamonica, S., Resimini, S., Sarteschi, G., Pavei, C., Battistini, N., Gazzola, O. E., Miceli, M., Pontiggia, S., Lonati, V., Giannandrea, G., Sortino, C., Ravani, S., Uggeri, C., Jocolle, G., Bare, C., Baroni, I., De Candia, D., Fiorini, B., Chierico, K., Romeo, F., Bottega, R., Boccasile, L., Corsaro, A., Spadoni, C., Chiari, S., Ercolino, G., Dell'Uomo, V., Viri, S., Minato, M., Gazzola, L., Dorina, B., Gianelli, D., Maspero, S., Farinazzo, M., Zanini, P., Sangiovanni, A., Del Giudice, A., Dragonetti, M. M., Bordignon, S., Machiavelli, A. M., Chiodelli, G., Spatarella, M., Zenoni, D., Beretta, F. N., Santilli, G., Badagliacca, R., Angileri, M., Giannelli, L., Campomori, A., Maimone, P., Fadda, A., Faoro, S., Pisterna, A., Cacopardo, B., Marino, A., Pampaloni, A., Celesia, B. M., Cinnella, G., Labella, D., Caporusso, R. R., Danzi, M., Fiscon, M., Malena, M., Fendt, D., Nardi, S., Stobbione, P., Savi, M. L., De Monte, A., Scala, A., Liberato, N. L., Luchi, S., Vincenti, A., Cabrini, L., Pinelli, G., Brugioni, L., Potenza, D., Numis, F. G., Porta, G., D'Amico, M., Iengo, B., Angarano, G., Saracino, A., Blasi, L., De Negri, P., Angelici, S., Farina, A., Martino, G. P., Bitti, G., Tedeschi, A., De Ponti, S., Agostinone, A., Parruti, G., Consorte, A., Frattari, A., Filippelli, A., Pagliano, P., Masullo, A., Sellitto, C., Reta, M., Rossi, N., Raumer, L., Andreassi, S., Brancaleoni, P., Carai, A., Salerno, A. M., Marinangeli, F., Mariani, R., Ciccone, A., Meschini, C., Santoboni, G., Angrisani, C., Micarelli, D., Tarquini, G., Fregoni, V., Volta, C. A., Cherubini, A., Del Prete, M. S., Ciarrochi, E., Tasca, F., Ballarin, A., Bianchin, A., Flocco, R., Cuzzone, V., Carpinteri, M., Gallotti, P., Torre, F., Zannetti, P., Crapis, M., Venturini, S., Barattini, M., Gori, G., Mastroianni, A., De Stefano, G., Gilio, M., Rapisarda, G., Gulisano, L., Granata, M. L., Saglimbene, S., Montalto, M. T., Grasso, I., De Luca, S., Magro, G., Messina, F., Scapino, B., Abrate, P., Francisco, C., Pesce, L., Navarra, M., Agosti, M., Pagani, S., Piluso, M., Ricioppo, A., Tognella, S., Rovere, P., Vincenzi, M., Ghirardi, L., Generali, D., Ingrosso, M., Desiderio, E., Molaro, R., Vitiello, S., Lancione, L., Paone, T. C., Meli, A., Mainardi, S., Rastellino, V., Ursillo, A., di Grigoli, P., Bovetto, E., Stefanetto, I. M., Mazzola, F., Daniele, A., Bisio, C., Delnero, P., Morando, G., Nava, A., Francesco, L., Fiammengo, F., Regis, M., Roccatello, D., Sabato, E., Liccardi, M. M., Bretto, C., Lutri, L., Castenetto, E., Roberti, G., Guidi, M. F., Bini, F., Zappa, M. C., Trequattrini, T., Rivitti, R., Vigliarolo, R., Succu, A., Lilli, M., Serao, M., Giogre, G., Ruggieri, A., Flores, K., Vairo, G., Satira, R., Lingua, A., Spina, R., Nicastri, E., Maffongelli, G., Barreca, F., Scollet, S., Franchi, F., Fabbri, C., Minuz, P., Dalbeni, A., Zanatta, P., Gelormini, D., Mandelli, A., Galderisi, F., Zoia, E., Marchi, M. R., De Almeida Neves, N., Carbone, G., Di Caterino, E., Petrone, A., Usai, C. A., Bandiera, F., Monti, R., Hofer, A., Castiglione, G., Angeletti, C., Tarsia, P., Veronese, L., Artoni, P. D., Larussa, D., Fumagalli, R., Brioschi, P., Cerutti, A., Pasquino, P., Gilberto, F., Cantadori, L., Tomasoni, G., Tomasoni, L. R., Coppola, N., Spolveri, S., Pollastri, C., Fico, L., Principi, T., Pierantozzi, S., Fontana, C., Lubrano, G., Martinelli, L., Navalesi, P., Serra, E., Cogi, E., Manzi, A., Furino, E., Dasseni, N., Gentilini, C., Benatti, E., Pignatti, A., Aiello, G., Milia, M., Covesnon, M. G., Brianti, A., Francesco, C., Ilaria, B., Pagnozzi, F., Mietta, S., Rossi, A., Maroni, L., Borroni, V., Bellintani, C., Sgarabotto, C., Bizzotto, G., Bucci, L., Spagnuolo, G., Agostini, M., Caria, F. C., Testa, F., De Palma, R., Murdaca, G., Zanolini, G., Sala, N., Righini, E., Pontremoli, R., Aondio, G., Riccardi, F., De Cristoforo, M. G., De Michele, F., Storti, A., Perra, R., Deidda, S., Enrica, C., Valastro, F., Pierfranceschi, M. G., De Gennaro, F., Nardecchia, A. L., Castellini, M., Buetto, G., Ippoliti, G., Sicheri, D., Bottoli, M. G., De Arroyabe, B. M. L., Versaci, A., Di Cura Villa Giada Pallotti, C., Civita, M., Grio, M., Liuzzi, N., Molino, P., Pastorelli, M., Ricchiardi, A., Varbella, F., Zeme, A. D., Sighieri, C., Portale, G., Olivetti, A., Pagnoni, C., Moschini, G., Boni, S., Guerra, A., Scudellari, R., Vella, S., Inchiostro, S., Piazza, O., Guarino, S., Aldegheri, G., Napoli, G., Morettini, A., Caldini, E., Menicacci, L., Pieralli, F., Torrini, M., Poggesi, L., Visetti, E. M., Mangano, C., Visconti, S., Maietta, P., Banfi, E., Cartella, S., Venturi, B., Nuceri, A., Chiesa, E., Pacentra, E., Panzolato, G., Giannotti, M., Bianchi, C., Pietrangelo, A., Para, O., Rutili, M. S., Russo, R., Lanfranco, M., Scalabrino, E., Tafuri, A., Perfetti, E., Chiarello, T., Cancanelli, L., Otero, M., Pannella, G., Bellucci, F., Ferrero, G., Vico, C., Stillante, M. S., D'Andrea, G., Amoroso, F., Arcidiacono, A., Bella, A. M., Belsito, A., Berte, Y., Carubia, G., Caruso, M. G., Casella, O., Chiereleson, F., Costa, C., De Franco, D., Germana, G., Messina, A., Musumeci, D., Noto, C., Valenti, M., Sorrentino, C., Panico, R., Schettino, G., Piccoli, J., Pepe, A., De Rosa, F., Ottaviano, M., Marrazzo, G., Raponi, G., Diberardino, S., Bausi, S., Marini, S. F., Giubellino, E., Innocenti, G., Gugliemi, G., Maccari, D., and Baciu, I.

Subjects
tocilizumab, covid 19, pneumonia
Published
2021

39. POS1141 ASSESSING RELEVANT JOINTS FOR MONITORING CPPD DISEASE: A SYSTEMATIC LITERATURE REVIEW OF IMAGING TECHNIQUES BY THE OMERACT ULTRASOUND – CPPD SUBGROUP

Author

Adinolfi, A., primary, Sirotti, S., additional, Sakellariou, G., additional, Cipolletta, E., additional, Filippucci, E., additional, Porta, F., additional, Sarzi-Puttini, P., additional, Scirè, C. A., additional, Keen, H., additional, Mandl, P., additional, Mouterde, G., additional, Pineda, C., additional, Terslev, L., additional, D’agostino, M. A., additional, Iagnocco, A., additional, and Filippou, G., additional

Published
2021
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46. Hematopoietic stem cell transplantation for CD40 ligand deficiency : Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study

Author

Ferrua, F., Galimberti, S., Courteille, V., Slatter, M.A., Booth, C., Moshous, D., Neven, B., Blanche, S., Cavazzana, M., Laberko, A., Shcherbina, A., Balashov, D., Soncini, E., Porta, F., Al-Mousa, H., Al-Saud, B., Al-Dhekri, H., Arnaout, R., Formankova, R., Bertrand, Y., Lange, A., Smart, J., Wolska-Kusnierz, B., Aquino, V.M., Dvorak, C.C., Fasth, A., Fouyssac, F., Heilmann, C., Hoenig, M., Schuetz, C., Kelecic, J., Bredius, R.G.M., Lankester, A.C., Lindemans, C.A., Suarez, F., Sullivan, K.E., Albert, M.H., Kalwak, K., Barlogis, V., Bhatia, M., Bordon, V., Czogala, W., Alonso, L., Dogu, F., Gozdzik, J., Ikinciogullari, A., Krivan, G., Ljungman, P., Meyts, I., Mustillo, P., Smith, A.R., Speckmann, C., Sundin, M., Keogh, S.J., Shaw, P.J., Boelens, J.J., Schulz, A.S., Sedlacek, P., Veys, P., Mahlaoui, N., Janda, A., Davies, E.G., Fischer, A., Cowan, M.J., Gennery, A.R., SCETIDE, PIDTC, EBMT, ESID IEWP, Ferrua, F, Galimberti, S, Courteille, V, Slatter, M, Booth, C, Moshous, D, Neven, B, Blanche, S, Laberko, A, Shcherbina, A, Balashov, D, Soncini, E, Porta, F, Al-Mousa, H, Al-Saud, B, Al-Dhekri, H, Arnaout, R, Formankova, R, Bertrand, Y, Lange, A, Smart, J, Wolska-Kusnierz, B, Aquino, V, Dvorak, C, Fasth, A, Fouyssac, F, Heilmann, C, Hoenig, M, Schuetz, C, Kelečić, J, Bredius, R, Lankester, A, Lindemans, C, Suarez, F, Sullivan, K, Albert, M, Kałwak, K, Barlogis, V, Bhatia, M, Bordon, V, Czogala, W, Alonso, L, Dogu, F, Gozdzik, J, Ikinciogullari, A, Kriván, G, Ljungman, P, Meyts, I, Mustillo, P, Smith, A, Speckmann, C, Sundin, M, Keogh, S, Shaw, P, Boelens, J, Schulz, A, Sedlacek, P, Veys, P, Mahlaoui, N, Janda, A, Davies, E, Fischer, A, Cowan, M, and Gennery, A

Subjects
0301 basic medicine, Oncology, medicine.medical_specialty, medicine.medical_treatment, Immunology, Hematopoietic stem cell transplantation, X-Linked Combined Immunodeficiency Diseases, primary immunodeficiency, Donor lymphocyte infusion, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, X-linked hyper-IgM syndrome, Humans, Medicine, Immunology and Allergy, Risk factor, Child, Prospective cohort study, business.industry, Infant, Newborn, Infant, medicine.disease, Treatment Outcome, 030104 developmental biology, medicine.anatomical_structure, Graft-versus-host disease, surgical procedures, operative, Supportive psychotherapy, Child, Preschool, hematopoietic stem cell transplantation, Primary immunodeficiency, Bone marrow, CD40 ligand, business, 030215 immunology
Abstract

BACKGROUND: CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium species infections. Long-term survival with supportive therapy is poor. Currently, the only curative treatment is hematopoietic stem cell transplantation (HSCT). OBJECTIVE: We performed an international collaborative study to improve patients' management, aiming to individualize risk factors and determine optimal HSCT characteristics. METHODS: We retrospectively collected data on 130 patients who underwent HSCT for CD40L deficiency between 1993-2015. We analyzed outcome and variables' relevance with respect to survival and cure. RESULTS: Overall survival (OS), event-free survival (EFS), and disease-free survival (DFS) were 78.2%, 58.1%, and 72.3% 5 years after HSCT. Results were better in transplantations performed in 2000 or later and in children less than 10 years old at the time of HSCT. Pre-existing organ damage negatively influenced outcome. Sclerosing cholangitis was the most important risk factor. After 2000, superior OS was achieved with matched donors. Use of myeloablative regimens and HSCT at 2 years or less from diagnosis associated with higher OS and DFS. EFS was best with matched sibling donors, myeloablative conditioning (MAC), and bone marrow-derived stem cells. Most rejections occurred after reduced-intensity or nonmyeloablative conditioning, which associated with poor donor cell engraftment. Mortality occurred mainly early after HSCT, predominantly from infections. Among survivors who ceased immunoglobulin replacement, T-lymphocyte chimerism was 50% or greater donor in 85.2%. CONCLUSION: HSCT is curative in patients with CD40L deficiency, with improved outcome if performed before organ damage development. MAC is associated with better OS, EFS, and DFS. Prospective studies are required to compare the risks of HSCT with those of lifelong supportive therapy. ispartof: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY vol:143 issue:6 pages:2238-2253 ispartof: location:United States status: published

Published
2019

47. Haploidentical transplantation and posttransplant cyclophosphamide for treating aplastic anemia patients: a report from the EBMT Severe Aplastic Anemia Working Party

Author

Prata, P.H., Eikema, D.J., Afansyev, B., Bosman, P., Smiers, F., Diez-Martin, J.L., Arrais-Rodrigues, C., Koc, Y., Poir?, X., Sirvent, A., Kr?ger, N., Porta, F., Holter, W., Bloor, A., Jubert, C., Ganser, A., Tanase, A., M?nard, A.L., Pioltelli, P., P?rez-Sim?n, J.A., Ho, A., Aljurf, M., Russell, N., Labussiere-Wallet, H., Kerre, T., Rocha, V., Soci?, G., Risitano, A., Dufour, C., Latour, R.P. de, SAA WP EBMT, Prata, P. H., Eikema, D. -J., Afansyev, B., Bosman, P., Smiers, F., Diez-Martin, J. L., Arrais-Rodrigues, C., Koc, Y., Poire, X., Sirvent, A., Kroger, N., Porta, F., Holter, W., Bloor, A., Jubert, C., Ganser, A., Tanase, A., Menard, A. -L., Pioltelli, P., Perez-Simon, J. A., Ho, A., Aljurf, M., Russell, N., Labussiere-Wallet, H., Kerre, T., Rocha, V., Socie, G., Risitano, A., Dufour, C., and Peffault de Latour, R.

Subjects
medicine.medical_specialty, Transplantation Conditioning, Cyclophosphamide, medicine.medical_treatment, Eltrombopag, Graft vs Host Disease, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Medicine, Humans, Cumulative incidence, Prospective Studies, Aplastic anemia, Prospective cohort study, Transplantation, Univariate analysis, Neutrophil Engraftment, business.industry, Hematopoietic Stem Cell Transplantation, Anemia, Aplastic, Immunosuppression, Hematology, medicine.disease, Europe, chemistry, 030220 oncology & carcinogenesis, Transplantation, Haploidentical, business, 030215 immunology, medicine.drug
Abstract

In Press., In the absence of an HLA-matched donor, the best treatment for acquired aplastic anemia patients refractory to immunosuppression is unclear. We collected and analyzed data from all acquired aplastic anemia patients who underwent a haploidentical transplantation with posttransplant cyclophosphamide in Europe from 2011 to 2017 (n = 33). The cumulative incidence of neutrophil engraftment was 67% (CI95%: 51–83%) at D +28 and was unaffected by age group, stem cell source, ATG use, or Baltimore conditioning regimen. The cumulative incidence of grades II–III acute GvHD was 23% at D +100, and limited chronic GvHD was 10% (0–20) at 2 years, without cases of grade IV acute or extensive chronic GvHD. Two-year overall survival was 78% (64–93), and 2-year graft-versus-host disease-free survival was 63% (46–81). In univariate analysis, the 2-year OS was higher among patients who received the Baltimore conditioning regimen (93% (81–100) versus 64% (41–87), p = 0.03), whereas age group, stem cell source, and ATG use had no effect. Our results using unmanipulated haploidentical transplantation and posttransplant cyclophosphamide for treating refractory AA patients are encouraging, but warrant confirmation in a prospective study with a larger number of patients and longer follow-up.

Published
2019

50. Erratum: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (Orphanet Journal of Rare Diseases (2020) 15: 126 DOI: 10.1186/s13023-020-01379-8)

Author

Opladen, T. López-Laso, E. Cortès-Saladelafont, E. Pearson, T.S. Sivri, H.S. Yildiz, Y. Assmann, B. Kurian, M.A. Leuzzi, V. Heales, S. Pope, S. Porta, F. García-Cazorla, A. Honzík, T. Pons, R. Regal, L. Goez, H. Artuch, R. Hoffmann, G.F. Horvath, G. Thöny, B. Scholl-Bürgi, S. Burlina, A. Verbeek, M.M. Mastrangelo, M. Friedman, J. Wassenberg, T. Jeltsch, K. Kulhánek, J. Kuseyri Hübschmann, O.

Abstract

Following the original article's publication [1] the authors asked for the correction of Fig. 2, since the names of the disease genes [GCH1 and PCBD1] in the figure published did not match the listed diseases [AR-GTPCHD and PCDD]. The correct Fig. 2 isshown below: In the context of the manuscript correction and inorder to match he text content, the words "apart from DHPRD" should be removed from the second row and second column of Table 4, as shown below: (Table Presented). © 2020 The Author(s). Reference.

Published
2020

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