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

Author

Civino, A, Alighieri, G, Prete, E, Caroleo, A, Magni-Manzoni, S, Vinti, L, Romano, M, Santoro, N, Filocamo, G, Belotti, T, Santarelli, F, Gorio, C, Ricci, F, Colombini, A, Pastore, S, Cesaro, S, Barone, P, Verzegnassi, F, Olivieri, A, Ficara, M, Miniaci, A, Russo, G, Gallizzi, R, Pericoli, R, Breda, L, Mura, R, Podda, R, Onofrillo, D, Lattanzi, B, Tirtei, E, Maggio, M, De Santis, R, Consolini, R, Arlotta, A, La Torre, F, Mainardi, C, Pelagatti, M, Coassin, E, Capolsini, I, Burnelli, R, Tornesello, A, Soscia, F, De Fanti, A, Rigante, D, Pizzato, C, De Fusco, C, Abate, M, Roncadori, A, Rossi, E, Stabile, G, Biondi, A, Lepore, L, Conter, V, Rondelli, R, Pession, A, Ravelli, A, Amatruda, M, Atzeni, C, Bertolini, P, Bigucci, B, Caniglia, M, Cappella, M, Cattalini, M, Cefalo, M, Cellini, M, Cortis, E, Davi, S, De Benedetti, F, Di Cataldo, A, Fabbri, E, Fagioli, F, Fontanili, I, Garaventa, A, Gicchino, M, Ladogana, S, Locatelli, F, Magnolato, A, Marsili, M, Martino, S, Mascarin, M, Messina, C, Micalizzi, C, Porta, F, Rizzari, C, Civino A., Alighieri G., Prete E., Caroleo A. M., Magni-Manzoni S., Vinti L., Romano M., Santoro N., Filocamo G., Belotti T., Santarelli F., Gorio C., Ricci F., Colombini A., Pastore S., Cesaro S., Barone P., Verzegnassi F., Olivieri A. N., Ficara M., Miniaci A., Russo G., Gallizzi R., Pericoli R., Breda L., Mura R., Podda R. A., Onofrillo D., Lattanzi B., Tirtei E., Maggio M. C., De Santis R., Consolini R., Arlotta A., La Torre F., Mainardi C., Pelagatti M. A., Coassin E., Capolsini I., Burnelli R., Tornesello A., Soscia F., De Fanti A., Rigante D., Pizzato C., De Fusco C., Abate M. E., Roncadori A., Rossi E., Stabile G., Biondi A., Lepore L., Conter V., Rondelli R., Pession A., Ravelli A., Amatruda M., Atzeni C., Bertolini P., Bigucci B., Caniglia M., Cappella M., Cattalini M., Cefalo M. G., Cellini M., Cortis E., Davi S., De Benedetti F., Di Cataldo A., Fabbri E., Fagioli F., Fontanili I., Garaventa A., Gicchino M. F., Ladogana S., Locatelli F., Magnolato A., Marsili M., Martino S., Mascarin M., Messina C., Micalizzi C., Porta F., Rizzari C., Civino, A, Alighieri, G, Prete, E, Caroleo, A, Magni-Manzoni, S, Vinti, L, Romano, M, Santoro, N, Filocamo, G, Belotti, T, Santarelli, F, Gorio, C, Ricci, F, Colombini, A, Pastore, S, Cesaro, S, Barone, P, Verzegnassi, F, Olivieri, A, Ficara, M, Miniaci, A, Russo, G, Gallizzi, R, Pericoli, R, Breda, L, Mura, R, Podda, R, Onofrillo, D, Lattanzi, B, Tirtei, E, Maggio, M, De Santis, R, Consolini, R, Arlotta, A, La Torre, F, Mainardi, C, Pelagatti, M, Coassin, E, Capolsini, I, Burnelli, R, Tornesello, A, Soscia, F, De Fanti, A, Rigante, D, Pizzato, C, De Fusco, C, Abate, M, Roncadori, A, Rossi, E, Stabile, G, Biondi, A, Lepore, L, Conter, V, Rondelli, R, Pession, A, Ravelli, A, Amatruda, M, Atzeni, C, Bertolini, P, Bigucci, B, Caniglia, M, Cappella, M, Cattalini, M, Cefalo, M, Cellini, M, Cortis, E, Davi, S, De Benedetti, F, Di Cataldo, A, Fabbri, E, Fagioli, F, Fontanili, I, Garaventa, A, Gicchino, M, Ladogana, S, Locatelli, F, Magnolato, A, Marsili, M, Martino, S, Mascarin, M, Messina, C, Micalizzi, C, Porta, F, Rizzari, C, Civino A., Alighieri G., Prete E., Caroleo A. M., Magni-Manzoni S., Vinti L., Romano M., Santoro N., Filocamo G., Belotti T., Santarelli F., Gorio C., Ricci F., Colombini A., Pastore S., Cesaro S., Barone P., Verzegnassi F., Olivieri A. N., Ficara M., Miniaci A., Russo G., Gallizzi R., Pericoli R., Breda L., Mura R., Podda R. A., Onofrillo D., Lattanzi B., Tirtei E., Maggio M. C., De Santis R., Consolini R., Arlotta A., La Torre F., Mainardi C., Pelagatti M. A., Coassin E., Capolsini I., Burnelli R., Tornesello A., Soscia F., De Fanti A., Rigante D., Pizzato C., De Fusco C., Abate M. E., Roncadori A., Rossi E., Stabile G., Biondi A., Lepore L., Conter V., Rondelli R., Pession A., Ravelli A., Amatruda M., Atzeni C., Bertolini P., Bigucci B., Caniglia M., Cappella M., Cattalini M., Cefalo M. G., Cellini M., Cortis E., Davi S., De Benedetti F., Di Cataldo A., Fabbri E., Fagioli F., Fontanili I., Garaventa A., Gicchino M. F., Ladogana S., Locatelli F., Magnolato A., Marsili M., Martino S., Mascarin M., Messina C., Micalizzi C., Porta F., and Rizzari C.

Abstract

Background: Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such, we aimed to assess the prevalence and characteristics of presenting musculoskeletal manifestations in patients at cancer onset and to identify the factors that differentiate childhood malignancies with arthropathy from juvenile idiopathic arthritis. Methods: We did a multicentre, cross-sectional study at 25 paediatric haemato-oncology centres and 22 paediatric rheumatology centres in Italy. We prospectively recruited patients who were younger than 16 years that were newly diagnosed with cancer or juvenile idiopathic arthritis. We excluded patients with glucocorticoid pre-treatment (>1 mg/kg per day of oral prednisone or equivalent for ≥2 consecutive weeks). We collected data for patients with a new diagnosis of cancer or juvenile idiopathic arthritis using an electronic case report form on a web-based platform powered by the Cineca Interuniversity Consortium. The primary outcome was to describe the frequency and characteristics of musculoskeletal manifestations at cancer onset; and the secondary outcome was to identify factors that could discriminate malignancies presenting with arthropathy, with or without other musculoskeletal symptoms, from juvenile idiopathic arthritis using multivariable logistic regression analysis. Findings: Between May 1, 2015, and May 31, 2018, 1957 patients were eligible, of which 1277 (65%) had cancer and 680 (35%) had juvenile idiopathic arthritis. Musculoskeletal symptoms occurred in 324 (25% [95% CI 23·0–27·8]) of 1277 patients with cancer, of whom 207 had arthropathy. Patients with malignant bone tumours had the highest frequency of musculoskeletal symptoms (53 [80%] of 66), followed b

Published
2021

2. EVENTI ACUTI NEI PAZIENTI CON MALATTIA DREPANOCITICADURANTE LA FASE I DEL LOCKDOWN: RISULTATI DELLA SURVEY NAZIONALE NEI CENTRI AIEOP

Author

Munaretto, V, Voi, V, Palazzi, G, Notarangelo, L, Corti, P, Baretta, V, Casale, M, Barone, A, Cuzzubbo, D, Samperi, P, Tripodi, Si, Giona, F, Miano, M, Nocerino, D, Del Vecchio, G, Sau, A, Filippini, B, Casciana, Ml, Arcioni, F, Migliavacca, M, Saracco, P, Gorio, C, Cesaro, S, Perrotta, S, Zecca, M, Giordano, P, Fasoli, S, Russo, G, Sainati, L, and Colombatti, R.

Published
2020

3. TALASSO-DREPANOCITOSI DA MUTAZIONI BETA+: REALMENTE UN FENOTIPO 'MILD'?

Author

Agostini, A., Notarangelo, L. D., Gorio, C., Folsi, V., Casale, M., Perrotta, S., Samperi, P., Barone, A., Arcioni, F., Pegoraro, A., Burnelli, R., Nardi, M., Giona, F., Filippini, B., Giordano, P., Del-Vecchio, G. C., Casini, T., Masera, N., Colombatti, R., Sainati, L., Porta, F., and Russo, G.

Published
2018

4. Studio Multicentrico prospettico osserva zionale sui sintomi muscolo scheletrici all’esordio in oncologia pediatrica e i fattori predittivi nella diagnosi differenziale con l’atrite idiopatica giovanile. Analisi preliminare

Author

Civino, A., Alighieri, G., Davi, S., Pession, A., Ravelli, A., Santoro, N., Belotti, T, Martino, S., Cesaro, Simone, Filocamo, G., Marino, S., Magnolato, A., Colombini, A., Ricci, F., Suffia, C., Galizzi, R., Palmisani, E., Verzegnassi, F., Olivieri, A. N., Tirtei, E., Gerloni, V, Gorio, C., Lattanzi, B., Pizzati, C., Soscia, F., Vinti, L., De Fanti, A., Ficara, M., Magni Manzoni, S., Boaro, M. P., Prete, E., Quartulli, L., La Torre, F., Onofrillo, D., Rigante, D., Capolsini, I., Maggio, C., Ladogana, S., Marsali, M., Burnelli, R., Coassin, E., Pelegatti, M. A., Arlotta, A., Lepore, L., Conter, V., Biondi, A., Fagioli, F., and Rondelli, R.

Subjects
diagnosi, leucemia acuta, sintomi, diagnosi, sintomi, leucemia acuta
Published
2016

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

Author

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

Subjects
medicine.medical_specialty, business.industry, Immunology, Arthritis, Cancer, Odds ratio, Musculoskeletal manifestation, Juvenile idiopathic arthritis, medicine.disease, Histiocytosis, Rheumatology, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Prednisone, Internal medicine, Joint pain, Arthropathy, Musculoskeletal manifestations, childhood cancer, juvenile idiopathic arthritis, medicine, childhood cancer, Immunology and Allergy, Differential diagnosis, medicine.symptom, business, medicine.drug
Abstract

Summary Background Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such, we aimed to assess the prevalence and characteristics of presenting musculoskeletal manifestations in patients at cancer onset and to identify the factors that differentiate childhood malignancies with arthropathy from juvenile idiopathic arthritis. Methods We did a multicentre, cross-sectional study at 25 paediatric haemato-oncology centres and 22 paediatric rheumatology centres in Italy. We prospectively recruited patients who were younger than 16 years that were newly diagnosed with cancer or juvenile idiopathic arthritis. We excluded patients with glucocorticoid pre-treatment (>1 mg/kg per day of oral prednisone or equivalent for ≥2 consecutive weeks). We collected data for patients with a new diagnosis of cancer or juvenile idiopathic arthritis using an electronic case report form on a web-based platform powered by the Cineca Interuniversity Consortium. The primary outcome was to describe the frequency and characteristics of musculoskeletal manifestations at cancer onset; and the secondary outcome was to identify factors that could discriminate malignancies presenting with arthropathy, with or without other musculoskeletal symptoms, from juvenile idiopathic arthritis using multivariable logistic regression analysis. Findings Between May 1, 2015, and May 31, 2018, 1957 patients were eligible, of which 1277 (65%) had cancer and 680 (35%) had juvenile idiopathic arthritis. Musculoskeletal symptoms occurred in 324 (25% [95% CI 23·0–27·8]) of 1277 patients with cancer, of whom 207 had arthropathy. Patients with malignant bone tumours had the highest frequency of musculoskeletal symptoms (53 [80%] of 66), followed by patients with Langerhans histiocytosis (16 [47%] of 34), leukaemia (189 [32%] of 582), soft-tissue sarcomas (16 [24%] of 68), and neuroblastoma (21 [19%] of 109). In the 324 patients with cancer and musculoskeletal symptoms, the most common complaints were joint pain (199 [61%]), followed by limb bone pain (112 [35%]). Joint involvement had a prevalent monoarticular pattern (100 [48%] of 207) and oligoarticular pattern (86 [42%] had 2–4 joints involved and 20 [10%] had >4 joints involved), with the most frequently involved joints being the hip (88 [43%] of 207) and knee (81 [39%]). On multivariable analysis, limb bone pain was the independent variable most strongly associated with cancer (odds ratio [OR] 87·80 [95% CI 18·89–408·12]), followed by weight loss (59·88 [6·34–565·53]), thrombocytopenia (12·67 [2·40–66·92]), monoarticular involvement (11·30 [4·09–31·19]), hip involvement (3·30 [1·13–9·61]), and male sex (2·40 [1·03–5·58]). Factors independently associated with juvenile idiopathic arthritis were morning stiffness (OR 0·04 [95% CI 0·01–0·20]), joint swelling (0·03 [0·01–0·09]), and involvement of the small hand joints (0·02 [0–1·05]). Interpretation Our study provides detailed information about presenting musculoskeletal manifestations of childhood cancers and highlights the clinical and laboratory features that are most helpful in the differential diagnosis with juvenile idiopathic arthritis. Funding Associazione Lorenzo Risolo.

Published
2021

6. Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations

Author

Canessa Clementina, Raffaele Badolato, Stefano Rossi, Boaz Palterer, Francesco Saettini, Marco Chiarini, Daniele Moratto, Antonio Marzollo, Alessandro Plebani, Lodi Lorenzo, Manuela Baronio, Silvia Ricci, Alessandra Sottini, Luisa Gazzurelli, Luisa Imberti, Daniele Zama, Chiara Gorio, Linda Rossini, Vassilios Lougaris, Baronio M., Saettini F., Gazzurelli L., Rossi S., Marzollo A., Ricci S., Zama D., Palterer B., Clementina C., Lorenzo L., Chiarini M., Sottini A., Imberti L., Gorio C., Rossini L., Badolato R., Plebani A., Moratto D., and Lougaris V.

Subjects
medicine.medical_specialty, CD3, Lymphocyte, Immunology, T lymphocytes, Immunoglobulins, CD16, Gastroenterology, Flow cytometry, Jacobsen syndrome, Internal medicine, White blood cell, medicine, Immunoglobulin, Killer Cells, Immunology and Allergy, Humans, Jacobsen Distal 11q Deletion Syndrome, Lymphocyte Count, Child, Immunodeficiency, B-Lymphocytes, biology, medicine.diagnostic_test, B lymphocyte, business.industry, medicine.disease, Flow Cytometry, Killer Cells, Natural, medicine.anatomical_structure, Natural, biology.protein, B lymphocytes, Antibody, business
Abstract

Purpose Jacobsen syndrome (JS) is a rare form of genetic disorder that was recently classified as a syndromic immunodeficiency. Available detailed immunological data from JS patients are limited. Methods Clinical and immunological presentation of twelve pediatric patients with JS by means of revision of clinical records, flow cytometry, real-time PCR, and lymphocyte functional testing were collected. Results Recurrent infections were registered in 6/12 patients (50%), while bleeding episodes in 2/12 (16.7%). White blood cell and absolute lymphocyte counts were reduced in 8/12 (66.7%) and 7/12 (58.3%) patients, respectively. Absolute numbers of CD3+ and CD4+ T cells were reduced in 8/12 (66.7%) and 7/12 (58.3%), respectively. Of note, recent thymic emigrants (RTE) were reduced in all tested patients (9/9), with T-cell receptor excision circle analysis (TRECs) showing a similar trend in 8/9 patients; naive CD4+ T cells were low only in 5/11 patients (45.4%). Interestingly, B-cell counts, IgM memory B cells, and IgM serum levels were reduced in 10/12 (83.3%) patients. Natural killer (NK) cell counts were mostly normal but the percentages of CD16+CD56low/- cells were expanded in 7/7 patients tested. The observed immunological alterations did not correlate with patients' age. Finally, responses to proliferative stimuli were normal at presentation for all patients, although they may deteriorate over time. Conclusions Our data suggest that patients affected with JS may display important numeric and maturational alterations in the T-, B-, and NK-cell compartments. These findings suggest that JS patients should be regularly monitored from an immunological point of view.

Published
2021

7. Acute events in children with sickle cell disease in Italy during the COVID-19 pandemic: useful lessons learned

Author

Agostino Nocerino, Laura Sainati, Serena Ilaria Tripodi, Chiara Gorio, Marco Zecca, Beatrice Filippini, Antonella Sau, Beatrice Coppadoro, Raffaella Colombatti, Maddalena Migliavacca, Paola Giordano, Maria Luisa Casciana, Silverio Perrotta, Valentina Baretta, Piera Samperi, Fiorina Giona, Francesco Arcioni, Chiara Piccolo, Paola Corti, Maddalena Casale, Lucia Dora Notarangelo, Giovanna Russo, Paola Saracco, Giovanni Palazzi, Daniela Cuzzubbo, Gian Carlo Del Vecchio, Simone Cesaro, Vania Munaretto, Maurizio Miano, Vincenzo Voi, Silvia Fasoli, Angelica Barone, Munaretto, V., Voi, V., Palazzi, G., Notarangelo, L. D., Corti, P., Baretta, V., Casale, M., Barone, A., Cuzzubbo, D., Samperi, P., Tripodi, S., Giona, F., Miano, M., Nocerino, A., Del Vecchio, G. C., Piccolo, C., Sau, A., Filippini, B., Casciana, M. L., Arcioni, F., Migliavacca, M., Saracco, P., Gorio, C., Cesaro, S., Perrotta, S., Zecca, M., Giordano, P., Fasoli, S., Coppadoro, B., Russo, G., Sainati, L., and Colombatti, R.

Subjects
Male, 2019-20 coronavirus outbreak, Vaso‐occlusive crisis, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Vaso-occlusive crisi, Anemia, Sickle Cell, Disease, Hospital, children, COVID‐19, acute chest, Correspondence, Pandemic, Acute Chest Syndrome, Medicine, Humans, Child, Vaso-occlusive crisis, Emergency Service, business.industry, COVID-19, Anemia, Hematology, medicine.disease, Virology, Sickle Cell, Italy, sickle cell disease, Female, Emergency Service, Hospital, business, Human
Published
2021

8. Association of Immune Thrombocytopenia and Coeliac Disease in Children (Retrospective Case Control Study)

Author

Francesca Romano, Saverio Ladogana, Irene D'Alba, Elena Facchini, Chiara Gorio, Lucia Dora Notarangelo, Ilaria Fotzi, Ugo Ramenghi, Giovanna Russo, Gianluca Dell'Orso, Elisa Bertoni, Angelica Barone, Paola Giordano, Paola Saracco, Francesca Compagno, Piero Farruggia, Angela Petrone, Maddalena Marinoni, Giuseppe Lassandro, Maddalena Casale, Silverio Perrotta, Marco Spinelli, Marco Zecca, Assunta Tornesello, Gianluca Boscarol, Milena Motta, Maurizio Miano, Angela Guarina, Angela Maggio, Elena Chiocca, Giuseppe Puccio, Silvia Salvatore, Guarina, A., Marinoni, M., Lassandro, G., Saracco, P., Perrotta, S., Facchini, E., Notarangelo, L. D., Russo, G., Giordano, P., Romano, F., Bertoni, E., Gorio, C., Boscarol, G., Motta, M., Spinelli, M., Barone, A., Zecca, M., Compagno, F., Ladogana, S., Maggio, A., Miano, M., Dell'Orso, G., Chiocca, E., Fotzi, I., Petrone, A., Tornesello, A., D'Alba, I., Salvatore, S., Casale, M., Puccio, G., Ramenghi, U., and Farruggia, P.

Subjects
Pediatrics, medicine.medical_specialty, Celiac, thrombocytopenia, Disease, Coeliac disease, Immune system, children, immune system diseases, hemic and lymphatic diseases, Children, Immune, Pediatric, Thrombocytopenia, medicine, Humans, Inosine Triphosphate, Child, Purpura, Retrospective Studies, Purpura, Thrombocytopenic, Idiopathic, business.industry, Case-control study, coeliac, Idiopathic, Hematology, Case-Control Studies, Celiac Disease, medicine.disease, Immune thrombocytopenia, Thrombocytopenic, pediatric, Multicenter study, Cohort, immune, business, Research Article
Abstract

The association between celiac disease (CD) and immune thrombocytopenia (ITP) is still uncertain. The aim of this study was to characterize the coexistence of these two diseases in Italian children.This is a retrospective multicenter study investigating the occurrence of CD in 28 children with ITP diagnosed from January 1, 2000, to December 31, 2019.The first diagnosis was ITP in 57.1% and CD in 32.1% of patients. In 3 patients (10.7%), the two diagnoses were simultaneous. All the potential and silent cases of CD in our cohort were diagnosed in the groups of “ITP first” and “simultaneous diagnosis”. In all children ITP was mild, and in 2 out of 8 not recovered from ITP at the time of CD diagnosis a normalization of platelet counts (100,000/μL) occurred 3 and 5 months after starting a gluten-free diet, respectively.We think that screening for CD should be considered in children with ITP regardless of the presence of gastrointestinal symptoms. Furthermore, some patients may recover from ITP after starting a gluten-free diet.İmmün trombositopeni (İTP) ve çölyak hastalığı (ÇH) arasındaki ilişki hala belirsizliğini korumaktadır. Bu çalışmanın amacı İtalyan çocuklarında bu iki hastalık arasındaki ilişkiyi ortaya koymaktır.Bu çalışma, 1 Ocak 2000’den 31 Aralık 2019’a kadar İTP tanısına ek olarak ÇH tanısı alan 28 çocuğun araştırıldığı geriye dönük çok merkezli bir çalışmadır.Hastaların %57,1’inde ilk tanı İTP ve %32,1’inde ÇH idi. Üç hastada (%10,7) iki tanı aynı anda konulmuştu. Kohortumuzdaki tüm potansiyel ve sessiz ÇH olguları “önce İTP” ve “eşzamanlı tanı” gruplarında teşhis edildi. Tüm çocuklarda İTP hafifti ve ÇH tanısı sırasında trombositopenisi devam eden 8 çocuktan 2’sinde, glutensiz diyete başladıktan sonra sırasıyla 3 ve 5 ayda trombosit sayılarında normalleşme (100.000/μL) görüldü.Bu çalışma İTP’li çocuklarda gastrointestinal semptomların varlığına bakılmaksızın ÇH taramasının yapılması gerektiğini düşündürmektedir. Bazı hastalarda trombosit sayılarının glutensiz bir diyete başladıktan sonra düzelebileceği akılda bulundurulmalıdır.

Published
2021

9. HbS/β+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation

Author

Notarangelo, L. D., Agostini, A., Casale, M., Samperi, P., Arcioni, F., Gorello, P., Perrotta, S., Masera, N., Barone, A., Bertoni, E., Bonetti, E., Burnelli, R., Casini, T., Del, Vecchio, Filippini, G. C., Giona, B., Giordano, F., Gorio, P., Marchina, C., Nardi, E., Petrone, M., Colombatti, A., Sainati, R., Russo, L. r., Email Author View Correspondence (jump link), G., Notarangelo, L. D., Agostini, A., Casale, M., Samperi, P., Arcioni, F., Gorello, P., Perrotta, S., Masera, N., Barone, A., Bertoni, E., Bonetti, E., Burnelli, R., Casini, T., Del Vecchio, G. C., Filippini, B., Giona, F., Giordano, P., Gorio, C., Marchina, E., Nardi, M., Petrone, Angelo, Colombatti, R., Sainati, L., and Russo, G.

Subjects
Male, Thalassemia, Hemoglobin, Sickle, HbS/β+ thalassemia, Italy, Sickle cell disease, children, genotype, phenotype, Avascular necrosis, Disease, beta-Globins, Gastroenterology, Sickle, 0302 clinical medicine, Genotype, Public Health Surveillance, Child, Stroke, Anemia, Hematology, General Medicine, Middle Aged, Sickle Cell, Phenotype, 030220 oncology & carcinogenesis, Child, Preschool, Cohort, Female, HbS, beta plus thalassemia, Adult, medicine.medical_specialty, Adolescent, Anemia, Sickle Cell, Sepsis, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, Hemoglobin, Preschool, Alleles, Genetic Association Studies, Infant, Retrospective Studies, beta-Thalassemia, business.industry, Retrospective cohort study, medicine.disease, business, 030215 immunology
Abstract

Objectives: HbS/β+ patients’ presence in Italy increased due to immigration; these patients are clinically heterogeneous, and specific guidelines are lacking. Our aim is to describe a cohort of HbS/β+ patients, with genotype-phenotype correlation, in order to offer guidance for clinical management of such patients. Methods: Retrospective cohort study of HbS/β+ patients among 15 AIEOP Centres. Results: A total of 41 molecularly confirmed S/β+ patients were enrolled (1-55years, median 10.9) and classified on β+ mutation: IVS-I-110, IVS-I-6, promoter, and “others.” Prediagnostic events included VOC 16/41 (39%), ACS 6/41 (14.6%), sepsis 3/41 (3.7%), and avascular necrosis 3/41 (7,3%). Postdiagnostic events were VOC 22/41 (53.6% %), sepsis 4/41 (9.7%), ACS 4/41 (9.7%), avascular necrosis 3/41 (7.3%), aplastic crisis 2/41 (4.8%), stroke 1/41 (2.4%), ACS 1/41 (2.4%), and skin ulcerations 1/41 (2.4%). The IVS-I-110 group presented the lowest median age at first SCD-related event (P=.02 vs promoter group) and the higher median number of severe events/year (0.26 events/patient/year) (P=.01 vs IVS-I-6 and promoter groups). Promoter group presented a specific skeletal phenotype. Treatment regimen applied was variable among the centers. Conclusions: HbS/β+ is not always a mild disease. Patients with IVS-I-110 mutation could benefit from a standard of care like SS and S/β° patients. Standardization of treatment is needed.

Published
2019

10. Recommendations for the management of acute immune thrombocytopenia in children. A Consensus Conference from the Italian Association of Pediatric Hematology and Oncology.

Author

Russo G, Parodi E, Farruggia P, Notarangelo LD, Perrotta S, Casale M, Cesaro S, Del Borrello G, Del Vecchio GC, Giona F, Gorio C, Ladogana S, Lassandro G, Marzollo A, Maslak K, Miano M, Nardi M, Palumbo G, Rossi F, Spinelli M, Tolva A, Saracco P, Ramenghi U, and Giordano P

Subjects
Humans, Child, Italy, Hemorrhage therapy, Hemorrhage etiology, Immunoglobulins, Intravenous therapeutic use, Child, Preschool, Female, Male, Acute Disease, Hematology, Purpura, Thrombocytopenic, Idiopathic therapy, Purpura, Thrombocytopenic, Idiopathic diagnosis, Purpura, Thrombocytopenic, Idiopathic epidemiology
Abstract

Background: Immune thrombocytopenia (ITP) is an acquired immune-mediated bleeding disorder characterized by isolated thrombocytopenia. Its estimated yearly incidence in the pediatric population is 1.9-6.4/100,000. ITP in children is usually a self-limiting and benign disorder. The clinical management of children with ITP often remains controversial, as robust randomized trials on the management of this disorder are lacking. Treatments vary widely in clinical practice and existing guidelines from hematology societies on clinical management offer indications based largely on expert opinion rather than strong evidence., Materials and Methods: The Coagulative Disorder Working Group of the Italian Association of Pediatric Hematology and Oncology (AIEOP) developed this document to collect shared expert opinions on the management of newly diagnosed ITP, updating previous guidelines and providing recommendations to pediatricians. Each statement has been given a score expressing the strength of evidence, appropriateness and agreement among participants., Results: Clear-cut definitions of the clinical phases of the disease and clinical response are stated. Recommendations are given regarding the classification of bleeding symptoms, evaluation of bleeding risk, diagnosis, and prognostic factors. Specific recommendations for treatment include indications for first-line (intravenous immunoglobulins, steroids) and second-line (combined therapy, thrombopoietin receptor agonists, immunosuppressive drugs, rituximab) therapeutic agents, as well as hemorrhagic emergency and supportive treatment, including emergency splenectomy. The optimal follow-up schedule, the relation between ITP and vaccines and health-related quality-of-life issues are also discussed., Discussion: The panel achieved broad consensus on issues related to how to treat children with newly diagnosed ITP, providing a comprehensive review of all relevant clinical aspects.

Published
2024
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11. Long term use of eltrombopag in children with chronic immune thrombocytopenia: extended real life retrospective multicenter experience of the Italian Association of Pediatric Hematology and Oncology.

Author

Giordano P, Lassandro G, Barone A, Cesaro S, Fotzi I, Giona F, Gorio C, Maggio A, Miano M, Marzollo A, Nardi M, Pession A, Ruggiero A, Russo G, Saracco P, Spinelli M, Tolva A, Tornesello A, Palladino V, and Del Vecchio GC

Abstract

Background: The present multicenter retrospective study on eltrombopag administration in Italian children with chronic ITP aims to extend follow-up of our previous study., Materials and Methods: This retrospective multicenter study was conducted in 17 centers affiliated to the Italian Association of Pediatric Hematology and Oncology (AIEOP). Patients were classified into three subgroups: group 1 included patients who discontinued treatment due to a stable platelet count; group 2 included patients who discontinued treatment due to ineffectiveness; group 3 included patients who did not permanently discontinue treatment., Results: 56 patients were eligible for analysis. The median duration of eltrombopag treatment was 40 months (7-71 months). Twenty patients (36%) discontinued permanently eltrombopag. The reasons of permanent discontinuation were adverse effects ( n = 1), inefficacy ( n = 10), stable platelet count ( n = 9). All patients of group 1 maintained a durable response without additional treatments after eltrombopag discontinuation. We found that patients of group 2 were on treatment for less time (median treatment time: 13.5 months, min: 6.0 - max: 56.0) than patients of group 1 (median treatment time: 34 months, min: 16.0 - max: 62.0) ( p < 0.05). Patients of group 2 mostly did not achieve a stable platelet count in the first 6 months of treatment and underwent concomitant therapies during follow-up respect of group 1 and group 3 ( p < 0.01)., Conclusion: Our study found that the benefits of eltrombopag treatment, in terms of platelet count improvement and use of additional therapies, are identifiable from the first 6 months of treatment., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Giordano, Lassandro, Barone, Cesaro, Fotzi, Giona, Gorio, Maggio, Miano, Marzollo, Nardi, Pession, Ruggiero, Russo, Saracco, Spinelli, Tolva, Tornesello, Palladino and Del Vecchio.)

Published
2023
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12. Development and Initial Validation of the ONCOREUM Score to Differentiate Childhood Cancer with Arthropathy from Juvenile Idiopathic Arthritis.

Author

Civino A, Bovis F, Ponzano M, Alighieri G, Prete E, Sorrentino S, Magni-Manzoni S, Vinti L, Romano M, Santoro N, Filocamo G, Belotti T, Santarelli F, Gorio C, Cattalini M, Stabile G, Conter V, Rondelli R, Pession A, and Ravelli A

Subjects
Child, Humans, Bayes Theorem, Cross-Sectional Studies, Arthritis, Juvenile complications, Arthritis, Juvenile diagnosis, Neoplasms complications, Neoplasms diagnosis, Joint Diseases diagnosis, Joint Diseases etiology
Abstract

Objective: To develop and validate a weighted score, the ONCOREUM score, that aids physicians in differentiation of cancer with arthropathy from juvenile idiopathic arthritis (JIA)., Study Design: Data were extracted from the ONCOREUM Study, a multicenter, cross-sectional investigation aimed at comparing children with cancer and arthropathy to children with JIA. Three statistical approaches were applied to develop the ONCOREUM score and assess the role of each variable in the diagnosis of cancer with arthropathy, including 2 approaches based on multivariable stepwise selection (models 1 and 2) and 1 approach on a Bayesian model averaging method (model 3). The β coefficients estimated in the models were used to assign score points. Considering that not missing a child with cancer is a mandatory clinical objective, discriminating performance was assessed by fixing sensitivity at 100%. Score performance was evaluated in both developmental and validation samples (representing 80% and 20% of the study population, respectively)., Results: Patients with cancer and arthropathy (49 with solid tumors and 46 with hematologic malignancies without peripheral blasts) and 677 patients with JIA were included. The highest area under the receiver operating characteristic (ROC) curve (AUC) in the validation data set was yielded by model 1, which was selected to constitute the ONCOREUM score. The score ranged from -18 to 21.8, and the optimal cutoff obtained through ROC analysis was -6. The sensitivity, specificity, and AUC of the cutoff in the validation sample were 100%, 70%, and 0.85, respectively., Conclusions: The ONCOREUM score is a powerful and easily applicable tool that may facilitate early differentiation of malignancies with articular complaints from JIA., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Published
2023
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13. Clinical and immunological analysis of a large kindred affected by autoimmune lymphoproliferative syndrome (ALPS) due to a novel TNFRSF6 mutation displaying age dependent disease activity.

Author

Tessarin G, Baronio M, Gazzurelli L, Rossi S, Gorio C, Bertoni E, Chiarini M, Moratto D, Mazza C, Porta F, Badolato R, and Lougaris V

Subjects
Humans, fas Receptor genetics, Mutation, Autoimmune Lymphoproliferative Syndrome genetics, Autoimmune Diseases, Lymphoproliferative Disorders
Abstract

Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest.

Published
2022
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14. "CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).

Author

Lassandro G, Palladino V, Faleschini M, Barone A, Boscarol G, Cesaro S, Chiocca E, Farruggia P, Giona F, Gorio C, Maggio A, Marinoni M, Marzollo A, Palumbo G, Russo G, Saracco P, Spinelli M, Verzegnassi F, Morga F, Savoia A, and Giordano P

Abstract

Background: Inherited thrombocytopenias (ITs) are rare congenital bleeding disorders characterized by different clinical expression and variable prognosis. ITs are poorly known by clinicians and often misdiagnosed with most common forms of thrombocytopenia., Material and Methods: "CHildren with Inherited Platelet disorders Surveillance" study (CHIPS) is a retrospective - prospective observational cohort study conducted between January 2003 and January 2022 in 17 centers affiliated to the Italian Association of Pediatric Hematology and Oncology (AIEOP). The primary objective of this study was to collect clinical and laboratory data on Italian pediatric patients with inherited thrombocytopenias. Secondary objectives were to calculate prevalence of ITs in Italian pediatric population and to assess frequency and genotype-phenotype correlation of different types of mutations in our study cohort., Results: A total of 139 children, with ITs (82 male - 57 female) were enrolled. ITs prevalence in Italy ranged from 0.7 per 100,000 children during 2010 to 2 per 100,000 children during 2022. The median time between the onset of thrombocytopenia and the diagnosis of ITs was 1 years (range 0 - 18 years). A family history of thrombocytopenia has been reported in 90 patients (65%). Among 139 children with ITs, in 73 (53%) children almost one defective gene has been identified. In 61 patients a pathogenic mutation has been identified. Among them, 2 patients also carry a variant of uncertain significance (VUS), and 4 others harbour 2 VUS variants. VUS variants were identified in further 8 patients (6%), 4 of which carry more than one variant VUS. Three patients (2%) had a likely pathogenic variant while in 1 patient (1%) a variant was identified that was initially given an uncertain significance but was later classified as benign. In addition, in 17 patients the genetic diagnosis is not available, but their family history and clinical/laboratory features strongly suggest the presence of a specific genetic cause. In 49 children (35%) no genetic defect were identified. In ninetyseven patients (70%), thrombocytopenia was not associated with other clinically apparent disorders. However, 42 children (30%) had one or more additional clinical alterations., Conclusion: Our study provides a descriptive collection of ITs in the pediatric Italian population., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2022 Lassandro, Palladino, Faleschini, Barone, Boscarol, Cesaro, Chiocca, Farruggia, Giona, Gorio, Maggio, Marinoni, Marzollo, Palumbo, Russo, Saracco, Spinelli, Verzegnassi, Morga, Savoia and Giordano.)

Published
2022
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15. Pathogenesis of Autoimmune Cytopenias in Inborn Errors of Immunity Revealing Novel Therapeutic Targets.

Author

Cortesi M, Soresina A, Dotta L, Gorio C, Cattalini M, Lougaris V, Porta F, and Badolato R

Subjects
Autoimmunity genetics, Child, Humans, Anemia, Hemolytic, Autoimmune diagnosis, Anemia, Hemolytic, Autoimmune genetics, Anemia, Hemolytic, Autoimmune therapy, Purpura, Thrombocytopenic, Idiopathic diagnosis, Purpura, Thrombocytopenic, Idiopathic genetics, Purpura, Thrombocytopenic, Idiopathic therapy, Thrombocytopenia complications
Abstract

Autoimmune diseases are usually associated with environmental triggers and genetic predisposition. However, a few number of autoimmune diseases has a monogenic cause, mostly in children. These diseases may be the expression, isolated or associated with other symptoms, of an underlying inborn error of immunity (IEI). Autoimmune cytopenias (AICs), including immune thrombocytopenic purpura (ITP), autoimmune hemolytic anemia (AIHA), autoimmune neutropenia (AN), and Evans' syndrome (ES) are common presentations of immunological diseases in the pediatric age, with at least 65% of cases of ES genetically determined. Autoimmune cytopenias in IEI have often a more severe, chronic, and relapsing course. Treatment refractoriness also characterizes autoimmune cytopenia with a monogenic cause, such as IEI. The mechanisms underlying autoimmune cytopenias in IEI include cellular or humoral autoimmunity, immune dysregulation in cases of hemophagocytosis or lymphoproliferation with or without splenic sequestration, bone marrow failure, myelodysplasia, or secondary myelosuppression. Genetic characterization of autoimmune cytopenias is of fundamental importance as an early diagnosis improves the outcome and allows the setting up of a targeted therapy, such as CTLA-4 IgG fusion protein (Abatacept), small molecule inhibitors (JAK-inhibitors), or gene therapy. Currently, gene therapy represents one of the most attractive targeted therapeutic approaches to treat selected inborn errors of immunity. Even in the absence of specific targeted therapies, however, whole exome genetic testing (WES) for children with chronic multilineage cytopenias should be considered as an early diagnostic tool for disease diagnosis and genetic counseling., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Cortesi, Soresina, Dotta, Gorio, Cattalini, Lougaris, Porta and Badolato.)

Published
2022
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16. Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations.

Author

Baronio M, Saettini F, Gazzurelli L, Rossi S, Marzollo A, Ricci S, Zama D, Palterer B, Clementina C, Lorenzo L, Chiarini M, Sottini A, Imberti L, Gorio C, Rossini L, Badolato R, Plebani A, Moratto D, and Lougaris V

Subjects
B-Lymphocytes, Child, Flow Cytometry, Humans, Killer Cells, Natural, Lymphocyte Count, Jacobsen Distal 11q Deletion Syndrome
Abstract

Purpose: Jacobsen syndrome (JS) is a rare form of genetic disorder that was recently classified as a syndromic immunodeficiency. Available detailed immunological data from JS patients are limited., Methods: Clinical and immunological presentation of twelve pediatric patients with JS by means of revision of clinical records, flow cytometry, real-time PCR, and lymphocyte functional testing were collected., Results: Recurrent infections were registered in 6/12 patients (50%), while bleeding episodes in 2/12 (16.7%). White blood cell and absolute lymphocyte counts were reduced in 8/12 (66.7%) and 7/12 (58.3%) patients, respectively. Absolute numbers of CD3 + and CD4 + T cells were reduced in 8/12 (66.7%) and 7/12 (58.3%), respectively. Of note, recent thymic emigrants (RTE) were reduced in all tested patients (9/9), with T-cell receptor excision circle analysis (TRECs) showing a similar trend in 8/9 patients; naïve CD4 + T cells were low only in 5/11 patients (45.4%). Interestingly, B-cell counts, IgM memory B cells, and IgM serum levels were reduced in 10/12 (83.3%) patients. Natural killer (NK) cell counts were mostly normal but the percentages of CD16 + CD56 low/- cells were expanded in 7/7 patients tested. The observed immunological alterations did not correlate with patients' age. Finally, responses to proliferative stimuli were normal at presentation for all patients, although they may deteriorate over time., Conclusions: Our data suggest that patients affected with JS may display important numeric and maturational alterations in the T-, B-, and NK-cell compartments. These findings suggest that JS patients should be regularly monitored from an immunological point of view., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Published
2022
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17. Acute events in children with sickle cell disease in Italy during the COVID-19 pandemic: useful lessons learned.

Author

Munaretto V, Voi V, Palazzi G, Notarangelo LD, Corti P, Baretta V, Casale M, Barone A, Cuzzubbo D, Samperi P, Tripodi S, Giona F, Miano M, Nocerino A, Del Vecchio GC, Piccolo C, Sau A, Filippini B, Casciana ML, Arcioni F, Migliavacca M, Saracco P, Gorio C, Cesaro S, Perrotta S, Zecca M, Giordano P, Fasoli S, Coppadoro B, Russo G, Sainati L, and Colombatti R

Subjects
Acute Chest Syndrome epidemiology, Child, Emergency Service, Hospital, Female, Humans, Italy epidemiology, Male, Anemia, Sickle Cell complications, COVID-19 epidemiology
Published
2021
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18. Association of Immune Thrombocytopenia and Celiac Disease in Children: A Retrospective Case Control Study

Author

Guarina A, Marinoni M, Lassandro G, Saracco P, Perrotta S, Facchini E, Notarangelo LD, Russo G, Giordano P, Romano F, Bertoni E, Gorio C, Boscarol G, Motta M, Spinelli M, Barone A, Zecca M, Compagno F, Ladogana S, Maggio A, Miano M, Dell'Orso G, Chiocca E, Fotzi I, Petrone A, Tornesello A, D'Alba I, Salvatore S, Casale M, Puccio G, Ramenghi U, and Farruggia P

Subjects
Child, Humans, Case-Control Studies, Retrospective Studies, Celiac Disease complications, Celiac Disease diagnosis, Celiac Disease epidemiology, Purpura, Thrombocytopenic, Idiopathic complications, Purpura, Thrombocytopenic, Idiopathic diagnosis, Purpura, Thrombocytopenic, Idiopathic epidemiology, Thrombocytopenia
Abstract

Objective: The association between celiac disease (CD) and immune thrombocytopenia (ITP) is still uncertain. The aim of this study was to characterize the coexistence of these two diseases in Italian children., Materials and Methods: This is a retrospective multicenter study investigating the occurrence of CD in 28 children with ITP diagnosed from January 1, 2000, to December 31, 2019., Results: The first diagnosis was ITP in 57.1% and CD in 32.1% of patients. In 3 patients (10.7%), the two diagnoses were simultaneous. All the potential and silent cases of CD in our cohort were diagnosed in the groups of “ITP first” and “simultaneous diagnosis”. In all children ITP was mild, and in 2 out of 8 not recovered from ITP at the time of CD diagnosis a normalization of platelet counts (>100,000/μL) occurred 3 and 5 months after starting a gluten-free diet, respectively., Conclusion: We think that screening for CD should be considered in children with ITP regardless of the presence of gastrointestinal symptoms. Furthermore, some patients may recover from ITP after starting a gluten-free diet.

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

Author

Civino A, Alighieri G, Prete E, Caroleo AM, Magni-Manzoni S, Vinti L, Romano M, Santoro N, Filocamo G, Belotti T, Santarelli F, Gorio C, Ricci F, Colombini A, Pastore S, Cesaro S, Barone P, Verzegnassi F, Olivieri AN, Ficara M, Miniaci A, Russo G, Gallizzi R, Pericoli R, Breda L, Mura R, Podda RA, Onofrillo D, Lattanzi B, Tirtei E, Maggio MC, De Santis R, Consolini R, Arlotta A, La Torre F, Mainardi C, Pelagatti MA, Coassin E, Capolsini I, Burnelli R, Tornesello A, Soscia F, De Fanti A, Rigante D, Pizzato C, De Fusco C, Abate ME, Roncadori A, Rossi E, Stabile G, Biondi A, Lepore L, Conter V, Rondelli R, Pession A, and Ravelli A

Abstract

Background: Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such, we aimed to assess the prevalence and characteristics of presenting musculoskeletal manifestations in patients at cancer onset and to identify the factors that differentiate childhood malignancies with arthropathy from juvenile idiopathic arthritis., Methods: We did a multicentre, cross-sectional study at 25 paediatric haemato-oncology centres and 22 paediatric rheumatology centres in Italy. We prospectively recruited patients who were younger than 16 years that were newly diagnosed with cancer or juvenile idiopathic arthritis. We excluded patients with glucocorticoid pre-treatment (>1 mg/kg per day of oral prednisone or equivalent for ≥2 consecutive weeks). We collected data for patients with a new diagnosis of cancer or juvenile idiopathic arthritis using an electronic case report form on a web-based platform powered by the Cineca Interuniversity Consortium. The primary outcome was to describe the frequency and characteristics of musculoskeletal manifestations at cancer onset; and the secondary outcome was to identify factors that could discriminate malignancies presenting with arthropathy, with or without other musculoskeletal symptoms, from juvenile idiopathic arthritis using multivariable logistic regression analysis., Findings: Between May 1, 2015, and May 31, 2018, 1957 patients were eligible, of which 1277 (65%) had cancer and 680 (35%) had juvenile idiopathic arthritis. Musculoskeletal symptoms occurred in 324 (25% [95% CI 23·0-27·8]) of 1277 patients with cancer, of whom 207 had arthropathy. Patients with malignant bone tumours had the highest frequency of musculoskeletal symptoms (53 [80%] of 66), followed by patients with Langerhans histiocytosis (16 [47%] of 34), leukaemia (189 [32%] of 582), soft-tissue sarcomas (16 [24%] of 68), and neuroblastoma (21 [19%] of 109). In the 324 patients with cancer and musculoskeletal symptoms, the most common complaints were joint pain (199 [61%]), followed by limb bone pain (112 [35%]). Joint involvement had a prevalent monoarticular pattern (100 [48%] of 207) and oligoarticular pattern (86 [42%] had 2-4 joints involved and 20 [10%] had >4 joints involved), with the most frequently involved joints being the hip (88 [43%] of 207) and knee (81 [39%]). On multivariable analysis, limb bone pain was the independent variable most strongly associated with cancer (odds ratio [OR] 87·80 [95% CI 18·89-408·12]), followed by weight loss (59·88 [6·34-565·53]), thrombocytopenia (12·67 [2·40-66·92]), monoarticular involvement (11·30 [4·09-31·19]), hip involvement (3·30 [1·13-9·61]), and male sex (2·40 [1·03-5·58]). Factors independently associated with juvenile idiopathic arthritis were morning stiffness (OR 0·04 [95% CI 0·01-0·20]), joint swelling (0·03 [0·01-0·09]), and involvement of the small hand joints (0·02 [0-1·05])., Interpretation: Our study provides detailed information about presenting musculoskeletal manifestations of childhood cancers and highlights the clinical and laboratory features that are most helpful in the differential diagnosis with juvenile idiopathic arthritis., Funding: Associazione Lorenzo Risolo., Competing Interests: Declaration of interests We declare no competing interests., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Published
2021
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20. HbS/β+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation.

Author

Notarangelo LD, Agostini A, Casale M, Samperi P, Arcioni F, Gorello P, Perrotta S, Masera N, Barone A, Bertoni E, Bonetti E, Burnelli R, Casini T, Del Vecchio GC, Filippini B, Giona F, Giordano P, Gorio C, Marchina E, Nardi M, Petrone A, Colombatti R, Sainati L, and Russo G

Subjects
Adolescent, Adult, Alleles, Anemia, Sickle Cell epidemiology, Child, Child, Preschool, Female, Genetic Association Studies, Humans, Infant, Italy epidemiology, Male, Middle Aged, Public Health Surveillance, Retrospective Studies, Young Adult, beta-Thalassemia epidemiology, Anemia, Sickle Cell diagnosis, Anemia, Sickle Cell genetics, Genotype, Hemoglobin, Sickle genetics, Phenotype, beta-Globins genetics, beta-Thalassemia diagnosis, beta-Thalassemia genetics
Abstract

Objectives: HbS/β+ patients' presence in Italy increased due to immigration; these patients are clinically heterogeneous, and specific guidelines are lacking. Our aim is to describe a cohort of HbS/β+ patients, with genotype-phenotype correlation, in order to offer guidance for clinical management of such patients., Methods: Retrospective cohort study of HbS/β+ patients among 15 AIEOP Centres., Results: A total of 41 molecularly confirmed S/β+ patients were enrolled (1-55 years, median 10.9) and classified on β+ mutation: IVS-I-110, IVS-I-6, promoter, and "others." Prediagnostic events included VOC 16/41 (39%), ACS 6/41 (14.6%), sepsis 3/41 (3.7%), and avascular necrosis 3/41 (7,3%). Postdiagnostic events were VOC 22/41 (53.6% %), sepsis 4/41 (9.7%), ACS 4/41 (9.7%), avascular necrosis 3/41 (7.3%), aplastic crisis 2/41 (4.8%), stroke 1/41 (2.4%), ACS 1/41 (2.4%), and skin ulcerations 1/41 (2.4%). The IVS-I-110 group presented the lowest median age at first SCD-related event (P = .02 vs promoter group) and the higher median number of severe events/year (0.26 events/patient/year) (P = .01 vs IVS-I-6 and promoter groups). Promoter group presented a specific skeletal phenotype. Treatment regimen applied was variable among the centers., Conclusions: HbS/β+ is not always a mild disease. Patients with IVS-I-110 mutation could benefit from a standard of care like SS and S/β° patients. Standardization of treatment is needed., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Published
2020
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