Search

Your search keyword '"Giona F"' showing total 276 results
Start Over Author "Giona F"
276 results on '"Giona F"'

1. Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

Author

Biegstraaten, M., Cox, T.M., Belmatoug, N., Berger, M.G., Collin-Histed, T., Vom Dahl, S., Di Rocco, M., Fraga, C., Giona, F., Giraldo, P., Hasanhodzic, M., Hughes, D.A., Iversen, P.O., Kiewiet, A.I., Lukina, E., Machaczka, M., Marinakis, T., Mengel, E., Pastores, G.M., Plöckinger, U., Rosenbaum, H., Serratrice, C., Symeonidis, A., Szer, J., Timmerman, J., Tylki-Szymańska, A., Weisz Hubshman, M., Zafeiriou, D.I., Zimran, A., and Hollak, C.E.M.

Published
2018
Full Text
View/download PDF

2. Challenging Management of Severe Differentiation Syndrome in Pediatric Acute Promyelocytic Leukemia Treated with ATRA/ATO

Author

Molinaro, A, Zanta, D, Moleti, M, Giona, F, Conter, V, Rizzari, C, Biondi, A, Testi, A, Molinaro A., Zanta D., Moleti M. L., Giona F., Conter V., Rizzari C., Biondi A., Testi A. M., Molinaro, A, Zanta, D, Moleti, M, Giona, F, Conter, V, Rizzari, C, Biondi, A, Testi, A, Molinaro A., Zanta D., Moleti M. L., Giona F., Conter V., Rizzari C., Biondi A., and Testi A. M.

Published
2022

3. Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus

Author

Scarpa, M, Barbato, A, Bisconti, A, Burlina, A, Concolino, D, Deodato, F, Di Rocco, M, Dionisi-Vici, C, Donati, M, Fecarotta, S, Fiumara, A, Galeone, C, Giona, F, Giuffrida, G, Manna, R, Mariani, P, Pession, A, Scopinaro, A, Spada, M, Spandonaro, F, Trifirò, G, Carubbi, F, Cappellini, M, Scarpa, Maurizio, Barbato, Antonio, Bisconti, Annalisa, Burlina, Alberto, Concolino, Daniela, Deodato, Federica, Di Rocco, Maja, Dionisi-Vici, Carlo, Donati, Maria Alice, Fecarotta, Simona, Fiumara, Agata, Galeone, Carlotta, Giona, Fiorina, Giuffrida, Gaetano, Manna, Raffaele, Mariani, Paolo, Pession, Andrea, Scopinaro, Annalisa, Spada, Marco, Spandonaro, Federico, Trifirò, Gianluca, Carubbi, Francesca, Cappellini, Maria Domenica, Scarpa, M, Barbato, A, Bisconti, A, Burlina, A, Concolino, D, Deodato, F, Di Rocco, M, Dionisi-Vici, C, Donati, M, Fecarotta, S, Fiumara, A, Galeone, C, Giona, F, Giuffrida, G, Manna, R, Mariani, P, Pession, A, Scopinaro, A, Spada, M, Spandonaro, F, Trifirò, G, Carubbi, F, Cappellini, M, Scarpa, Maurizio, Barbato, Antonio, Bisconti, Annalisa, Burlina, Alberto, Concolino, Daniela, Deodato, Federica, Di Rocco, Maja, Dionisi-Vici, Carlo, Donati, Maria Alice, Fecarotta, Simona, Fiumara, Agata, Galeone, Carlotta, Giona, Fiorina, Giuffrida, Gaetano, Manna, Raffaele, Mariani, Paolo, Pession, Andrea, Scopinaro, Annalisa, Spada, Marco, Spandonaro, Federico, Trifirò, Gianluca, Carubbi, Francesca, and Cappellini, Maria Domenica

Abstract

Acid sphingomyelinase deficiency (ASMD) is an ultra-rare disease, and several gaps of knowledge on various issues remain, particularly at a regional/national level. Expert opinions collected through well-defined consensus methodologies are increasingly used to make available reliable information in the context of rare/ultra-rare diseases. With the aim to provide indications on infantile neurovisceral ASMD (also formerly known as Niemann–Pick disease type A), chronic neurovisceral ASMD (formerly known as Niemann–Pick disease type A/B) and chronic visceral ASMD (formerly known as Niemann–Pick disease type B) in Italy, we conducted a Delphi consensus of experts focused on five main areas: (i) patients and disease characteristics; (ii) unmet needs and quality of life; (iii) diagnostic issues; (iv) treatment-related aspects; and (v) patient journey. Pre-specified, objective criteria were used to outline the multidisciplinary panel, based on 19 Italian experts in ASMD in paediatric and adult patients from different Italian Regions, including both clinicians (n = 16) and ASMD patients’ advocacy or payors with expertise in rare diseases (n = 3). During two Delphi rounds, a high ratio of agreement was found on several topics related to ASMD characteristics, diagnosis, management and disease burden. Our findings may provide valuable indications for management of ASMD at a public health level in Italy.

Published
2023

4. 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

5. Challenging Management of Severe Differentiation Syndrome in Pediatric Acute Promyelocytic Leukemia Treated with ATRA/ATO

Author

Molinaro A., Zanta D., Moleti M. L., Giona F., Conter V., Rizzari C., Biondi A., Testi A. M., Molinaro, A, Zanta, D, Moleti, M, Giona, F, Conter, V, Rizzari, C, Biondi, A, and Testi, A

Subjects
Infectious Diseases, Differentiation Syndrome, ATRA/ATO combination, Acute Promyelocytic Leukemia, Hematology, Children
Abstract

The ATRA/ATO combination treatment of acute promyelocytic leukemia (APL) represents a paradigm of successful targeted and chemotherapy-free treatment in oncology. This therapeutic strategy is aimed at sparing patients from chemotherapy toxicity, while maintaining an excellent survival with a low risk of relapse. Main induction treatment-related complications are differentiation syndrome (DS) and hyperleukocytosis, which is related to DS and its severity. In the period December 2019 – December 2020, 8 children with newly diagnosed APL underwent induction therapy with ATRA/ATO in our center. In patients with WBC≥10x109/L two doses of Gemtuzumab Ozogamicin (GO) were added. In case of severe DS or hyperleukocytosis the differentiating agents were discontinued, high dose dexamethasone (DXM) and/or hydroxyurea (HU) were recommended. Five patients presented WBC

Published
2021

9. Results and outcome of intermittent imatinib (ON/OFF schedule) in children and adolescents with chronic myeloid leukaemia

Author

Giona, F, Malaspina, F, Putti, M, Ladogana, S, Mura, R, Burnelli, R, Vacca, N, Rizzo, L, Bianchi, S, Moleti, M, Testi, A, Biondi, A, Locatelli, F, Saglio, G, Foa, R, Giona F., Malaspina F., Putti M. C., Ladogana S., Mura R., Burnelli R., Vacca N., Rizzo L., Bianchi S., Moleti M. L., Testi A. M., Biondi A., Locatelli F., Saglio G., Foa R., Giona, F, Malaspina, F, Putti, M, Ladogana, S, Mura, R, Burnelli, R, Vacca, N, Rizzo, L, Bianchi, S, Moleti, M, Testi, A, Biondi, A, Locatelli, F, Saglio, G, Foa, R, Giona F., Malaspina F., Putti M. C., Ladogana S., Mura R., Burnelli R., Vacca N., Rizzo L., Bianchi S., Moleti M. L., Testi A. M., Biondi A., Locatelli F., Saglio G., and Foa R.

Published
2020

11. Pediatric Mastocytosis: An Update

Author

Giona, F.

Subjects
Children, Mastocytosis, Skin involvement, Diseases of the blood and blood-forming organs, Review Article, RC633-647.5
Abstract

Mastocytosis is a rare clonal disorder, characterized by excessive proliferation and accumulation of mast cells (MC) in various organs and tissues. Cutaneous mastocytosis (CM), the most common form in children, is defined when MC infiltration is limited to the skin. Systemic mastocytosis (SM), the most common form in adults, is characterized by MC proliferation and accumulation in organs, such as bone marrow, lymph nodes, liver and spleen (1). Genetic aberrations, mainly the KIT D816V mutation, play a crucial role in the pathogenesis of mastocytosis, resulting in enhancing MC survival and subsequent accumulation in organs and tissues (2,3). CM includes 3 forms: solitary mastocytoma, maculopapular cutaneous mastocytosis (MPCM) and diffuse cutaneous mastocytosis (DCM). In the majority of children with CM, skin lesions regress spontaneously around puberty; unfortunately, in a few cases, it is not a self-limiting disease (4). Even if SM occurs occasionally, all children with mastocytosis require planned follow-up over time. Children with mastocytosis often suffer from MC mediator-related symptoms, the most common of which is itching, often triggered by rubbing the lesions. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers. Treatment with H1 and H2 histamine receptor blockers on demand, and the availability of epinephrine auto-injectors for the patients to use in case of severe anaphylactic reactions are recommended.

Published
2021

12. High-Aspect-Ratio Semiconducting Polymer Pillars for 3D Cell Cultures

Author

Tullii, G, Giona, F, Lodola, F, Bonfadini, S, Bossio, C, Varo, S, Desii, A, Criante, L, Sala, C, Pasini, M, Verpelli, C, Galeotti, F, Antognazza, M, Tullii G, Giona F, Lodola F, Bonfadini S, Bossio C, Varo S, Desii A, Criante L, Sala C, Pasini M, Verpelli C, Galeotti F, Antognazza MR, Tullii, G, Giona, F, Lodola, F, Bonfadini, S, Bossio, C, Varo, S, Desii, A, Criante, L, Sala, C, Pasini, M, Verpelli, C, Galeotti, F, Antognazza, M, Tullii G, Giona F, Lodola F, Bonfadini S, Bossio C, Varo S, Desii A, Criante L, Sala C, Pasini M, Verpelli C, Galeotti F, and Antognazza MR

Abstract

Hybrid interfaces between living cells and nano/microstructured scaffolds have huge application potential in biotechnology, spanning from regenerative medicine and stem cell therapies to localized drug delivery and from biosensing and tissue engineering to neural computing. However, 3D architectures based on semiconducting polymers, endowed with responsivity to visible light, have never been considered. Here, we apply for the first time a push-coating technique to realize high aspect ratio polymeric pillars, based on polythiophene, showing optimal biocompatibility and allowing for the realization of soft, 3D cell cultures of both primary neurons and cell line models. HEK-293 cells cultured on top of polymer pillars display a remarkable change in the cell morphology and a sizable enhancement of the membrane capacitance due to the cell membrane thinning in correspondence to the pillars' top surface, without negatively affecting cell proliferation. Electrophysiology properties and synapse number of primary neurons are also very well preserved. In perspective, high aspect ratio semiconducting polymer pillars may find interesting applications as soft, photoactive elements for cell activity sensing and modulation., Hybrid interfaces between living cells and nano/microstructured scaffolds have huge application potential in biotechnology, spanning from regenerative medicine and stem cell therapies to localized drug delivery and from biosensing and tissue engineering to neural computing. However, 3D architectures based on semiconducting polymers, endowed with responsivity to visible light, have never been considered. Here, we apply for the first time a push-coating technique to realize high aspect ratio polymeric pillars, based on polythiophene, showing optimal biocompatibility and allowing for the realization of soft, 3D cell cultures of both primary neurons and cell line models. HEK-293 cells cultured on top of polymer pillars display a remarkable change in the cell morphology and a sizable enhancement of the membrane capacitance due to the cell membrane thinning in correspondence to the pillars' top surface, without negatively affecting cell proliferation. Electrophysiology properties and synapse number of primary neurons are also very well preserved. In perspective, high aspect ratio semiconducting polymer pillars may find interesting applications as soft, photoactive elements for cell activity sensing and modulation.

Published
2019

13. The proportion of different BCR-ABL1 transcript types in chronic myeloid leukemia. An international overview

Author

Baccarani, M, Castagnetti, F, Gugliotta, G, Rosti, G, Soverini, S, Albeer, A, Pfirrmann, M, Bekadja, Ma, Entasoltan, B, Nachi, M, Elghandour, A, El Sorady, M, Abdelfattah, R, El Nahass, Y, Samra, M, Azzazi, M, Elsobki, E, Moussa, M, Fahmy, O, Mattar, M, Shehata, Azmy, Se, (Azmy, E, 9 ), Emad), Bolarinwa, (Bolarinwa, Ra, ( 10 ), Rahman A., Eid, (Eid, S, Samir)( 11, ), Khelif, (Khelif, A, Abderrhaim)( 11, ), Hached, (Hached, F, Farhat)( 11, ), Menif, (Menif, S, Samia)( 12, ), Rahman, (Rahman, H, Hafizur)( 13, ), Huang, (Huang, Xj, Xiaojun)(, 14, 15, ), Jiang, (Jiang, Q, Qian)(, 14, (Ye, Yx, Yuanxin)( 16, ), Zhu, (Zhu, Hl, Huanling)( 16, ), Chen, (Chen, Sn, Suning)( 17, ), Varma, (Varma, N, Neelam)( 18, ), Ganesan, (Ganesan, P, Prasanth)( 19, ), Gundeti, (Gundeti, S, Sadashivudu)( 20, ), Malhotra, (Malhotra, H, Hemant)( 21, ), Radhakrishnan, (Radhakrishnan, Vs, ( 22 ), Vivek S., Kumar, (Kumar, L, Lalit)( 23, ), Sharawat, (Sharawat, Sk, Surender Kumar)( 23, ), Seth, (Seth, T, Tulika)( 24, ), Ausekar, (Ausekar, Bv, ( 25 ), B. V., Balasubramanian, (Balasubramanian, P, Poonkuzhali)( 26, ), Poopak, (Poopak, B, Behzad)(, 27, 28, ), Inokuchi, (Inokuchi, K, Koiti)( 29, ), Kim, (Kim, Dw, Dong-Wook)( 30, ), Kindi, Al, S (Al Kindi, Salam)( 31, ), Mirasol, (Mirasol, A, Angelina)( 32, ), Qari, (Qari, M, Mohammed)( 33, ), Goh, (Goh, Yt, Yeow Tee)( 34, ), Shih, (Shih, Ly, Lee-Yung)(, 35, 36, ), Branford, (Branford, S, Susan)(, 37, 38, ), Lion, (Lion, T, Thomas)( 39, ), Valent, (Valent, P, Peter)( 40, ), Burgstaller, (Burgstaller, S, Sonja)( 41, ), Thaler, (Thaler, J, Joseph)( 41, ), Labar, (Labar, B, Boris)( 42, ), Zadro, (Zadro, R, Renata)( 42, ), Mayer, (Mayer, J, Jiri)(, 43, 44, ), Zackova, (Zackova, D, Daniela)(, 43, Faber, (Faber, E, Edgar)( 45, ), Pallisgaard, (Pallisgaard, N, Niels)( 46, ), Xavier-Mahon, (Xavier-Mahon, F, Francois)( 47, ), Lippert, (Lippert, E, Eric)( 48, ), Cayuela, (Cayuela, Jm, Jean Michel)( 49, ), Rea, (Rea, D, Delphine)( 49, ), Millot, (Millot, F, Frederic)( 50, ), Suttorp, (Suttorp, M, Meinolf)( 51, ), Hochhaus, (Hochhaus, A, Andreas)( 52, ), Niederwieser, (Niederwieser, D, Dietger)( 53, ), Saussele, (Saussele, S, Susanne)( 54, ), Haferlach, (Haferlach, T, Torsten)( 55, ), Jeromine, (Jeromine, S, Sabine)( 55, ), Panayiotidis, (Panayiotidis, P, Panayiotis)(, 56, 57, ), Conneally, (Conneally, E, Eibhlin)( 58, ), Langabeer, (Langabeer, S, Steve)( 58, ), Nagler, (Nagler, A, Arnon)(, 59, 60, ), Rupoli, (Rupoli, S, Serena)( 61, ), Santoro, (Santoro, N, Nicola)( 62, ), Albano, (Albano, F, Francesco)( 63, ), Castagnetti, (Castagnetti, F, Fausto), Ottaviani, (Ottaviani, E, Emanuela)(, 64, 65, ), Rambaldi, (Rambaldi, A, Alessandro)(, 66, 67, ), Stagno, (Stagno, F, Fabio)( 68, ), Molica, (Molica, S, Stefano)( 69, ), Biagiotti, (Biagiotti, C, Caterina)( 70, ), Scappini, (Scappini, B, Barbara)( 70, ), Lemoli, (Lemoli, R, Roberto)( 71, ), Iurlo, (Iurlo, A, Alessandra)(, 72, 73, ), Pungolino, (Pungolino, E, Ester)( 74, ), Menna, (Menna, G, Giuseppe), Pane, (Pane, F, Fabrizio)( 76, ), Gottardi, (Gottardi, E, Enrico)(, 77, 78, ), Rege-Cambrin, (Rege-Cambrin, G, Giovanna)(, 77, Binotto, (Binotto, G, Gianni)( 79, ), Putti, (Putti, Mc, Maria Caterina)( 80, ), Falzetti, (Falzetti, F, Franca)( 81, ), Visani, (Visani, G, Giuseppe)( 82, ), Galimberti, (Galimberti, S, Sara)( 83, ), Musto, (Musto, P, Pellegrino)( 84, ), Abruzzese, (Abruzzese, E, Elisabetta)( 85, ), Breccia, (Breccia, M, Massimo)( 86, ), Giona, (Giona, F, Fiorina)( 86, ), Chiusolo, (Chiusolo, P, Patrizia)( 87, ), Sica, (Sica, S, Simona)( 87, ), Fava, (Fava, C, Carmen)( 88, ), Ferrero, (Ferrero, D, Dario)( 88, ), Tiribelli, (Tiribelli, M, Mario)( 89, ), Bonifacio, (Bonifacio, M, Massimiliano)( 90, ), Griskevicius, (Griskevicius, L, Laimonas)( 91, ), Musteata, (Musteata, V, Vasile)( 92, ), Janssen, (Janssen, J, Jeroen)( 93, ), Prejzner, (Prejzner, W, Witold)( 94, ), Sacha, (Sacha, T, Tomasz)( 95, ), Waclaw, (Waclaw, J, Joanna)( 95, ), Almeida, (Almeida, Am, Antonio Medina)( 96, ), Kulikov, (Kulikov, S, Sergei)( 97, ), Turkina, (Turkina, A, Anna)( 97, ), Bogdanovic, (Bogdanovic, A, Andrija)( 98, ), Zupan, (Zupan, I, Irena)( 99, ), Marce, (Marce, S, Silvia)( 100, ), Cervantes, (Cervantes, F, Francisco)( 101, ), Steegmann, (Steegmann, Jl, Juan Luis)( 102, ), Kotlyarchuk, (Kotlyarchuk, K, Konstyantyn)( 103, ), Milner, (Milner, Bj, ( 104 ), Benedict J., Rose, (Rose, S, Susan)( 105, ), Clench, (Clench, T, Tim)( 106, ), Waits, (Waits, P, Paula)( 107, ), Austin, (Austin, S, Steve)( 108, ), Wickham, (Wickham, C, Caroline)( 109, ), Clark, (Clark, R, Richard)( 110, ), Apperley, (Apperley, J, Jane), Claudiani, (Claudiani, S, Simone)( 111, ), Foroni, (Foroni, L, Letizia)( 111, ), Szydlo, (Szydlo, R, Richard)( 111, ), Burt, (Burt, E, Emma)( 112, ), Bescoby, (Bescoby, R, Ruth)( 113, ), Cork, (Cork, L, Leanne)( 113, ), O'Brien, (O'Brien, S, Stephen)( 113, ), Green, (Green, B, Bethaney)( 114, ), Hawtree, (Hawtree, S, Sarah)( 114, ), Watson, (Watson, M, Mark)( 114, ), Bengio, (Bengio, Rm, Raquel Maria)( 115, ), Larripa, (Larripa, I, Irene)( 115, ), Pavlovsky, (Pavlovsky, C, Carolina)( 116, ), Moiraghi, (Moiraghi, B, Beatriz)( 117, ), Pinna, De, CAR (Requiao de Pinna, Cristiane Almeida)( 118, ), Magalhaes, GHR (Romani Magalhaes, Gustavo Henrique)( 119, ), Pagnano, (Pagnano, K, Katia)( 120, ), Funke, (Funke, V, Vaneuza)( 121, ), Tavares, (Tavares, Rs, Renato Sampaio)( 122, ), Prado, (Prado, A, Adriana)( 123, ), Azevedo, (Azevedo, Aa, Alita Andrade)( 124, ), Fogliatto, (Fogliatto, L, Laura)( 125, ), Bonecker, (Bonecker, S, Simone)( 126, ), Centrone, (Centrone, R, Renato)( 127, ), Moellman, (Moellman, A, Artur)( 128, ), Conchon, (Conchon, M, Monika)( 130, ), Centurion, (Centurion, Me, Maria Elida)( 131, ), (Prado, Ai, Ana-Ines)( 132, ), Lopez, (Lopez, Jl, ( 133 ), J. L., Petruzziello, (Petruzziello, F, Fara)( 75, ), Bendit, (Bendit, I, Israel), Baccarani M., Castagnetti F., Gugliotta G., Rosti G., Soverini S., Albeer A., and Pfirrmann M.

Subjects
Male, 0301 basic medicine, Cancer Research, bcr-abl, Fusion Proteins, bcr-abl, Global Health, 0302 clinical medicine, hemic and lymphatic diseases, 80 and over, Odds Ratio, Prevalence, Age Factor, Chronic, Young adult, Child, MOLECULAR RESPONSE, Leukemic, Aged, 80 and over, Leukemia, Hematology, Gene Expression Regulation, Leukemic, CHRONIC MYELOGENOUS LEUKEMIA, Age Factors, Myeloid leukemia, Middle Aged, Oncology, Child, Preschool, 030220 oncology & carcinogenesis, Female, Life Sciences & Biomedicine, Human, Adult, Transcriptional Activation, medicine.medical_specialty, Adolescent, Immunology, IMATINIB MESYLATE, DENDRITIC CELLS, CML PATIENTS, Young Adult, 03 medical and health sciences, Myelogenous, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Internal medicine, medicine, Humans, 1112 Oncology and Carcinogenesis, BCR/ABL TRANSCRIPT, Preschool, CYTOGENETIC RESPONSE, Aged, Science & Technology, CHRONIC-PHASE, business.industry, Infant, Newborn, Fusion Proteins, ABL FUSION PROTEINS, P190 BCR-ABL, Infant, 1103 Clinical Sciences, Odds ratio, Newborn, medicine.disease, International BCR-ABL Study Group, Settore MED/15 - MALATTIE DEL SANGUE, 030104 developmental biology, Imatinib mesylate, Gene Expression Regulation, BCR-ABL Positive, business, Chronic myelogenous leukemia
Abstract

There are different BCR-ABL1 fusion genes that are translated into proteins that are different from each other, yet all leukemogenic, causing chronic myeloid leukemia (CML) or acute lymphoblastic leukemia. Their frequency has never been systematically investigated. In a series of 45503 newly diagnosed CML patients reported from 45 countries, it was found that the proportion of e13a2 (also known as b2a2) and of e14a2 (also known as b3a2), including the cases co-expressing e14a2 and e13a2, was 37.9% and 62.1%, respectively. The proportion of these two transcripts was correlated with gender, e13a2 being more frequent in males (39.2%) than in females (36.2%), was correlated with age, decreasing from 39.6% in children and adolescents down to 31.6% in patients ≥ 80 years old, and was not constant worldwide. Other, rare transcripts were reported in 666/34561 patients (1.93%). The proportion of rare transcripts was associatedwith gender (2.27% in females and 1.69% in males) and with age (from 1.79% in children and adolescents up to 3.84% in patients ≥ 80 years old). These data show that the differences in proportion are not by chance. This is important, as the transcript type is a variable that is suspected to be of prognostic importance for response to treatment, outcome of treatment, and rate of treatment-free remission.

Published
2019

15. Second-line therapy in paediatric warm autoimmune haemolytic anaemia. Guidelines from the Associazione Italiana Onco-Ematologia Pediatrica (AIEOP)

Author

Ladogana, S, Maruzzi, M, Samperi, P, Condorelli, A, Casale, M, Giordano, P, Notarangelo, L, Farruggia, P, Giona, F, Nocerino, A, Fasoli, S, Casciana, M, Miano, M, Tucci, F, Casini, T, Saracco, P, Barcellini, W, Zanella, A, Perrotta, S, Russo, G, Baronci, C, Casadei, A, Cazzaniga, G, Coluzzi, S, Ciliberti, A, Del Vecchio, G, Facchini, E, Girelli, G, Lazzareschi, I, Masera, N, Perseghin, P, Peruccio, D, Petrone, A, Sau, A, Schiro, R, Tumino, M, Vasta, I, Verzegnassi, F, Ladogana S., Maruzzi M., Samperi P., Condorelli A., Casale M., Giordano P., Notarangelo L. D., Farruggia P., Giona F., Nocerino A., Fasoli S., Casciana M. L., Miano M., Tucci F., Casini T., Saracco P., Barcellini W., Zanella A., Perrotta S., Russo G., Baronci C., Casadei A. M., Cazzaniga G., Coluzzi S., Ciliberti A., Del Vecchio G. C., Facchini E., Girelli G., Lazzareschi I., Masera N., Perseghin P., Peruccio D., Petrone A., Sau A., Schiro R., Tumino M., Vasta I., Verzegnassi F., Ladogana, S, Maruzzi, M, Samperi, P, Condorelli, A, Casale, M, Giordano, P, Notarangelo, L, Farruggia, P, Giona, F, Nocerino, A, Fasoli, S, Casciana, M, Miano, M, Tucci, F, Casini, T, Saracco, P, Barcellini, W, Zanella, A, Perrotta, S, Russo, G, Baronci, C, Casadei, A, Cazzaniga, G, Coluzzi, S, Ciliberti, A, Del Vecchio, G, Facchini, E, Girelli, G, Lazzareschi, I, Masera, N, Perseghin, P, Peruccio, D, Petrone, A, Sau, A, Schiro, R, Tumino, M, Vasta, I, Verzegnassi, F, Ladogana S., Maruzzi M., Samperi P., Condorelli A., Casale M., Giordano P., Notarangelo L. D., Farruggia P., Giona F., Nocerino A., Fasoli S., Casciana M. L., Miano M., Tucci F., Casini T., Saracco P., Barcellini W., Zanella A., Perrotta S., Russo G., Baronci C., Casadei A. M., Cazzaniga G., Coluzzi S., Ciliberti A., Del Vecchio G. C., Facchini E., Girelli G., Lazzareschi I., Masera N., Perseghin P., Peruccio D., Petrone A., Sau A., Schiro R., Tumino M., Vasta I., and Verzegnassi F.

Published
2018

16. 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

17. Results and outcome of intermittent imatinib (ON/OFF schedule) in children and adolescents with chronic myeloid leukaemia

Author

Giona, F., Malaspina, F., Putti, M. C., Ladogana, S., Mura, R., Burnelli, R., Vacca, N., Rizzo, L., Bianchi, S., Moleti, M. L., Testi, A. M., Biondi, A., Locatelli, Franco, Saglio, G., Foa, R., Locatelli F. (ORCID:0000-0002-7976-3654), Giona, F., Malaspina, F., Putti, M. C., Ladogana, S., Mura, R., Burnelli, R., Vacca, N., Rizzo, L., Bianchi, S., Moleti, M. L., Testi, A. M., Biondi, A., Locatelli, Franco, Saglio, G., Foa, R., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

NO ABSTRACT

Published
2020

18. Use of Eltrombopag in Children With Chronic Immune Thrombocytopenia (ITP): A Real Life Retrospective Multicenter Experience of the Italian Association of Pediatric Hematology and Oncology (AIEOP)

Author

Giordano, P., Lassandro, G., Barone, A., Cesaro, S., Fotzi, I., Giona, F., Ladogana, S., Miano, M., Marzollo, A., Nardi, M., Notarangelo, L. D., Pession, A., Ruggiero, Antonio, Russo, G., Saracco, P., Spinelli, M., Tolva, A., Tornesello, Assunta, Palladino, V., Del Vecchio, G. C., Ruggiero A. (ORCID:0000-0002-6052-3511), Tornesello A. (ORCID:0000-0002-7485-7440), Giordano, P., Lassandro, G., Barone, A., Cesaro, S., Fotzi, I., Giona, F., Ladogana, S., Miano, M., Marzollo, A., Nardi, M., Notarangelo, L. D., Pession, A., Ruggiero, Antonio, Russo, G., Saracco, P., Spinelli, M., Tolva, A., Tornesello, Assunta, Palladino, V., Del Vecchio, G. C., Ruggiero A. (ORCID:0000-0002-6052-3511), and Tornesello A. (ORCID:0000-0002-7485-7440)

Abstract

Background: The thrombopoietin receptor agonist eltrombopag has been shown to be safe and effective for children with chronic immune thrombocytopenia (ITP). The aim of the present study was to characterize eltrombopag use in current clinical practice. Material and Methods: This is a retrospective multicenter study conducted in 17 centers affiliated to the Italian Association of Pediatric Hematology and Oncology (AIEOP). The primary objective of the study was to determine the prevalence of eltrombopag use in Italian children affected by chronic ITP, after EMA authorization for pediatric age. The secondary objective was to assess efficacy in the first 6 months and safety during the whole period of eltrombopag treatment in current clinical practice. A total of 386 children with chronic ITP were retrospectively enrolled and eligible for analysis. Among these patients, 71 received eltrombopag. Results: The prevalence of eltrombopag use was 19% (95% CI 0.15–0.23). Thirty-one patients (44%) were male and 40 patients (56%) were female. The median age at the first dose of eltrombopag was 12 years (3–17 years). The median duration of eltrombopag treatment was 11 months (1–32 months) and the median starting dose was 50 mg/day (12, 5–75 mg/day). Thirty-two patients (45%) required one or more concomitant ITP medications during the first 6 months of treatment with eltrombopag. Thirty-nine patients (55%) never required concomitant medications. Median platelet counts and proportion of patients achieving the target platelet count of at least 30 × 109/L and 100 × 109/L significantly increased during the first 6 months of treatment (p < 0.0001). Additionally, eltrombopag has been proved effective in the absence of concomitant therapies. The most common Adverse Events were headache (7%) and thrombocytosis (6%). Conclusion: Our study highlighted the crucial role of eltrombopag as second line treatment in children with chronic ITP.

Published
2020

20. A case of motor neuron involvement in Gaucher disease

Author

Pozzilli, V., primary, Giona, F., additional, Ceccanti, M., additional, Cambieri, C., additional, Frasca, V., additional, Onesti, E., additional, Libonati, L., additional, Di Bari, S., additional, Fiorini, I., additional, Cardarelli, L., additional, Santopietro, M., additional, and Inghilleri, M., additional

Published
2019
Full Text
View/download PDF

21. Second-line therapy in paediatric warm autoimmune haemolytic anaemia. Guidelines from the Associazione Italiana Onco-Ematologia Pediatrica (AIEOP)

Author

Ladogana S., Maruzzi M., Samperi P., Condorelli A., Casale M., Giordano P., Notarangelo L. D., Farruggia P., Giona F., Nocerino A., Fasoli S., Casciana M. L., Miano M., Tucci F., Casini T., Saracco P., Barcellini W., Zanella A., Perrotta S., Russo G., Baronci C., Casadei A. M., Cazzaniga G., Coluzzi S., Ciliberti A., Del Vecchio G. C., Facchini E., Girelli G., Lazzareschi I., Masera N., Perseghin P., Peruccio D., Petrone A., Sau A., Schiro R., Tumino M., Vasta I., Verzegnassi F., Ladogana, Saverio, Maruzzi, Matteo, Samperi, Piera, Condorelli, Annalisa, Casale, Maddalena, Giordano, Paola, Notarangelo, Lucia D., Farruggia, Piero, Giona, Fiorina, Nocerino, Agostino, Fasoli, Silvia, Casciana, Maria L., Miano, Maurizio, Tucci, Fabio, Casini, Tommaso, Saracco, Paola, Barcellini, Wilma, Zanella, Alberto, Perrotta, Silverio, Russo, Giovanna, Baronci, Carlo, Casadei, Anna Maria, Cazzaniga, Giovanni, Coluzzi, Serelina, Corti, Paola, Del Vecchio, Giovanni C., Facchini, Elena, Girelli, Gabriella, Lazzareschi, Ilaria, Masera, Nicoletta, Perseghin, Paolo, Peruccio, Daniela, Petrone, Angelamaria, Sau, Antonella, Schirò, Raffaella, Tumino, Manuela, Vasta, Isabella, Verzegnassi, Federico, Ladogana, S, Maruzzi, M, Samperi, P, Condorelli, A, Casale, M, Giordano, P, Notarangelo, L, Farruggia, P, Giona, F, Nocerino, A, Fasoli, S, Casciana, M, Miano, M, Tucci, F, Casini, T, Saracco, P, Barcellini, W, Zanella, A, Perrotta, S, Russo, G, Baronci, C, Casadei, A, Cazzaniga, G, Coluzzi, S, Ciliberti, A, Del Vecchio, G, Facchini, E, Girelli, G, Lazzareschi, I, Masera, N, Perseghin, P, Peruccio, D, Petrone, A, Sau, A, Schiro, R, Tumino, M, Vasta, I, and Verzegnassi, F

Subjects
Male, autoimmune haemolytic anaemia, child, therapy, rituximab, mycophenolate mofetil, splenectomy, therapy, Erythrocytes, Adolescent, Incidence, mycophenolate mofetil, Infant, Hematology, Guideline, splenectomy, rituximab, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Humans, Immunology and Allergy, autoimmune haemolytic anaemia, Female, Anemia, Hemolytic, Autoimmune, Child, Autoantibodies
Published
2018

25. UTILIZZO DELL’ELTROMBOPAG NELLA 'REAL LIFE' DEI BAMBINI AFFETTI DA TROMBOCITOPENIA IMMUNE CRONICA (ITP): ESPERIENZA MULTICENTRICA DELLA ASSOCIAZIONE ITALIANA DI EMATOLOGIA ED ONCOLOGIA PEDIATRICA (AIEOP)

Author

Palladino1, V., Lassandro1, G., Del Vecchio1, G. C., Cesaro2, S., Fontanili3, I., Fotzi4, I., Gabelli5, M., Giona, F., Ladogana, S., Marzollo, A., Miano, M., Nardi, M., Notarangelo, L. D., Pession, A., Ruggiero, A., Russo, G., Saracco, P., Spinelli, M., Tolva, A., Tornesello, A., Zecca, M., and Giordano, P.

Subjects
PEDIATRICO, ELTROMBOPAG, TROMBOCITOPENIA
Published
2019

26. Retrospective And Prospective Study Of Childhood Autoimmune Hemolytic Anemia. A Preliminary Report From The Red Cell Working Group Of The Paediatric Hemato-Oncology Italian Associations (Aieop)

Author

Ladogana, S., Colombatti, R., Perrotta, S., Maggio, A., Maruzzi, M., Ciliberti, A., Samperi, P., Casale, M., Giordano, P., Del Vecchio, G. C., Perillo, T., Boscarol, G., Notarangelo, L. D., Casini, T., Miano, M., Fasoli, S., Corti, P., Guarina, A., Arcioni, F., Sau, A., Giona, F., Palumbo, G., Saracco, P., Petrone, A., Verzegnassi, F., Piccolo, C., and Russo, S. Cesaro and G.

Published
2019

28. Risultati preliminari degli Studi Prospettico e Retrospettivo (OEP 2015-01 e 2015-02) sull’Anemia Emolitica Autoimmune (AEA) del bambino di nuova diagnosi

Author

Ladogana, S., Colombatti, R., Perrotta, S., Maggio, A., Maruzzi, M., Ciliberti, A., Samperi, P., Casale, M., Giordano, P., Del Vecchio, G. C., Martire, B., Boscarol, G., Notarangelo, L. D., Casini, T., Miano, M., Fasoli, S., Corti, P., Masera, N., Guarina, A., Arcioni, F., Sau, A., Giona, F., Palumbo, G., Saracco, P., Petrone, A., Verzegnassi, F., Piccolo, C., Cesaro, S., and Russo, G.

Subjects
Anemia emolitica autoimmune, bambino, strategie terapeutiche
Published
2019

36. 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

38. Real-Life Management of Children and Adolescents with Chronic Myeloid Leukemia: The Italian Experience

Author

Giona, F., Santopietro, M., Menna, G., Putti, M. C., Micalizzi, C., Santoro, N., Ziino, O., Mura, R., Ladogana, S., Iaria, G., Sau, A., Burnelli, R., Vacca, N., Bernasconi, S., Consarino, C., Petruzziello, F., Moleti, M. L., Biondi, A., Locatelli, Franco, Foa, R., Locatelli F. (ORCID:0000-0002-7976-3654), Giona, F., Santopietro, M., Menna, G., Putti, M. C., Micalizzi, C., Santoro, N., Ziino, O., Mura, R., Ladogana, S., Iaria, G., Sau, A., Burnelli, R., Vacca, N., Bernasconi, S., Consarino, C., Petruzziello, F., Moleti, M. L., Biondi, A., Locatelli, Franco, Foa, R., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Background: To date, no data on the adherence to specific guidelines for children with chronic myeloid leukemia (CML) in chronic phase (CP) have been reported. Methods: Since 2001, guidelines for treatment with imatinib mesylate (IM) and monitoring in patients younger than 18 years with CP-CML have been shared with 9 pediatric referral centers (P centers) and 4 reference centers for adults and children/adolescents (AP centers) in Italy. In this study, the adherence to these guidelines was analyzed. Results: Thirty-four patients with a median age of 11.4 years and 23 patients with a median age of 11.0 years were managed at 9 P and at 4 AP centers, respectively. Evaluations of bone marrow (BM) and/or peripheral blood (PB) were available for more than 90% of evaluable patients. Cytogenetics and molecular monitoring of PB were more consistently performed in AP centers, whereas molecular analysis of BM was carried out more frequently in P centers. Before 2009, some patients who responded to IM underwent a transplantation, contrary to the guidelines' recommendations. Conclusions: Our experience shows that having specific guidelines is an important tool for an optimal management of childhood CP-CML, together with exchange of knowledge and proactive discussions within the network.

Published
2018

39. Early response does not predict outcome in children and adolescents with chronic myeloid leukaemia treated with high-dose imatinib

Author

Giona, F., Saglio, G., Santopietro, M., Menna, G., Putti, M. C., Micalizzi, C., Iaria, G., Santoro, N., Ladogana, S., Mura, R., Burnelli, R., Consarino, C., Cosmi, C., Moleti, M. L., Leszl, A., Tucci, F., Nanni, M., Diverio, D., Biondi, A., Locatelli, Franco, Foa, R., Locatelli F. (ORCID:0000-0002-7976-3654), Giona, F., Saglio, G., Santopietro, M., Menna, G., Putti, M. C., Micalizzi, C., Iaria, G., Santoro, N., Ladogana, S., Mura, R., Burnelli, R., Consarino, C., Cosmi, C., Moleti, M. L., Leszl, A., Tucci, F., Nanni, M., Diverio, D., Biondi, A., Locatelli, Franco, Foa, R., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

NO ABSTRACT

Published
2018

40. Real-Life Management of Children and Adolescents with Chronic Myeloid Leukemia: The Italian Experience

Author

Giona, F, Santopietro, M, Menna, G, Putti, M, Micalizzi, C, Santoro, N, Ziino, O, Mura, R, Ladogana, S, Iaria, G, Sau, A, Burnelli, R, Vacca, N, Bernasconi, S, Consarino, C, Petruzziello, F, Moleti, M, Biondi, A, Locatelli, F, Foà, R, Giona, Fiorina, Santopietro, Michelina, Menna, Giuseppe, Putti, Maria Caterina, Micalizzi, Concetta, Santoro, Nicola, Ziino, Ottavio, Mura, Rosamaria, Ladogana, Saverio, Iaria, Grazia, Sau, Antonella, Burnelli, Roberta, Vacca, Nadia, Bernasconi, Sayla, Consarino, Caterina, Petruzziello, Fara, Moleti, Maria Luisa, Biondi, Andrea, Locatelli, Franco, Foà, Robin, Giona, F, Santopietro, M, Menna, G, Putti, M, Micalizzi, C, Santoro, N, Ziino, O, Mura, R, Ladogana, S, Iaria, G, Sau, A, Burnelli, R, Vacca, N, Bernasconi, S, Consarino, C, Petruzziello, F, Moleti, M, Biondi, A, Locatelli, F, Foà, R, Giona, Fiorina, Santopietro, Michelina, Menna, Giuseppe, Putti, Maria Caterina, Micalizzi, Concetta, Santoro, Nicola, Ziino, Ottavio, Mura, Rosamaria, Ladogana, Saverio, Iaria, Grazia, Sau, Antonella, Burnelli, Roberta, Vacca, Nadia, Bernasconi, Sayla, Consarino, Caterina, Petruzziello, Fara, Moleti, Maria Luisa, Biondi, Andrea, Locatelli, Franco, and Foà, Robin

Abstract

Background: To date, no data on the adherence to specific guidelines for children with chronic myeloid leukemia (CML) in chronic phase (CP) have been reported. Methods: Since 2001, guidelines for treatment with imatinib mesylate (IM) and monitoring in patients younger than 18 years with CP-CML have been shared with 9 pediatric referral centers (P centers) and 4 reference centers for adults and children/adolescents (AP centers) in Italy. In this study, the adherence to these guidelines was analyzed. Results: Thirty-four patients with a median age of 11.4 years and 23 patients with a median age of 11.0 years were managed at 9 P and at 4 AP centers, respectively. Evaluations of bone marrow (BM) and/or peripheral blood (PB) were available for more than 90% of evaluable patients. Cytogenetics and molecular monitoring of PB were more consistently performed in AP centers, whereas molecular analysis of BM was carried out more frequently in P centers. Before 2009, some patients who responded to IM underwent a transplantation, contrary to the guidelines' recommendations. Conclusions: Our experience shows that having specific guidelines is an important tool for an optimal management of childhood CP-CML, together with exchange of knowledge and proactive discussions within the network

Published
2018

41. Early response does not predict outcome in children and adolescents with chronic myeloid leukaemia treated with high-dose imatinib

Author

Giona, F, Saglio, G, Santopietro, M, Menna, G, Putti, M, Micalizzi, C, Iaria, G, Santoro, N, Ladogana, S, Mura, R, Burnelli, R, Consarino, C, Cosmi, C, Moleti, M, Leszl, A, Tucci, F, Nanni, M, Diverio, D, Biondi, A, Locatelli, F, Foà, R, BIONDI, ANDREA, Foà, R., Giona, F, Saglio, G, Santopietro, M, Menna, G, Putti, M, Micalizzi, C, Iaria, G, Santoro, N, Ladogana, S, Mura, R, Burnelli, R, Consarino, C, Cosmi, C, Moleti, M, Leszl, A, Tucci, F, Nanni, M, Diverio, D, Biondi, A, Locatelli, F, Foà, R, BIONDI, ANDREA, and Foà, R.

Published
2018

42. Second-line therapy in paediatric warm autoimmune haemolytic anaemia. Guidelines from the Associazione Italiana Onco-Ematologia Pediatrica (AIEOP)

Author

Ladogana, S., Maruzzi, M., Samperi, P., Condorelli, A., Casale, M., Giordano, P., Notarangelo, L. D., Farruggia, P., Giona, F., Nocerino, A., Fasoli, S., Casciana, M. L., Miano, M., Tucci, F., Casini, T., Saracco, P., Barcellini, W., Zanella, A., Perrotta, S., Russo, G., Baronci, C., Casadei, A. M., Cazzaniga, G., Coluzzi, S., Ciliberti, A., Del Vecchio, G. C., Facchini, E., Girelli, G., Lazzareschi, I., Masera, N., Perseghin, P., Peruccio, D., Petrone, A., Sau, A., Schiro, R., Tumino, M., Vasta, I., Verzegnassi, F., Zanella A., Cazzaniga G., Ciliberti A., Facchini E., Lazzareschi I. (ORCID:0000-0001-7221-2983), Vasta I., Ladogana, S., Maruzzi, M., Samperi, P., Condorelli, A., Casale, M., Giordano, P., Notarangelo, L. D., Farruggia, P., Giona, F., Nocerino, A., Fasoli, S., Casciana, M. L., Miano, M., Tucci, F., Casini, T., Saracco, P., Barcellini, W., Zanella, A., Perrotta, S., Russo, G., Baronci, C., Casadei, A. M., Cazzaniga, G., Coluzzi, S., Ciliberti, A., Del Vecchio, G. C., Facchini, E., Girelli, G., Lazzareschi, I., Masera, N., Perseghin, P., Peruccio, D., Petrone, A., Sau, A., Schiro, R., Tumino, M., Vasta, I., Verzegnassi, F., Zanella A., Cazzaniga G., Ciliberti A., Facchini E., Lazzareschi I. (ORCID:0000-0001-7221-2983), and Vasta I.

Abstract

No abstract available

Published
2018

43. Mast Cell Disorders, Melanoma and Pancreatic Carcinoma: From a Clinical Observation to a Brief Review of the Literature

Author

Giovanni Paolino, Belmonte, M., Trasarti, S., Santopietro, M., Bizzoni, L., Riminucci, M., Cardarelli, L., Iannella, E., Albanesi, M., Moliterni, E., Didona, D., Calvieri, S., Foà, R., and Giona, F.

Subjects
Male, Pancreatic Neoplasms, Skin Neoplasms, pancreatic carcinoma, Mastocytosis, Melanoma, Tryptases, melanoma, mastocytosis, Humans, Adenocarcinoma, Aged
Abstract

Mastocytosis can be associated with other clonal or non-clonal hematologic diseases as well as a variety of non-hematologic malignancies. A 75-year-old Caucasian male patient was referred to us with a 5-month history of neutrophilic leukocytosis and mild splenomegaly. He had developed a cutaneous melanoma sixteen years ago. According to the clinical and pathological features, a final diagnosis of systemic mastocytosis was established. The patient started treatment with interferon-α at a dose of 3 MIU/day, combined with low doses of prednisone. We observed a rapid disappearance of symptoms. Unfortunately, after 3 months a diagnosis of pancreatic adenocarcinoma was established. A review of the literature suggests that mastocytes could have a pivotal role in several malignancies. Different chemokines, mitogenic factors, chemical mediators of inflammation, and specific gene mutations could explain the association between mastocytosis and other hematologic and non-hematologic disorders.

Published
2017

49. Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm

Author

Di Rocco, M., Andria, G., Deodato, F., Giona, F., Micalizzi, C., and Pession, Andrea

Subjects
Algorithm, Early Diagnosis, Gaucher Disease, Bone Marrow, Biopsy, Splenomegaly, Gaucher disease, Pediatric age, Algorithms, Child, Humans
Abstract

Gaucher disease (GD) is caused by an enzyme deficiency that leads to the accumulation of glycolipids in various organs. Although the signs and symptoms of GD emerge in childhood in the majority of patients, the disease often remains unrecognized for many years with delay of benefits of therapy or development of irreversible complications. Based on published data and data from the International Collaborative Gaucher Group Registry, an algorithm has been drafted for early diagnosis of GD in pediatric patients. It will help hematologists in promoting a timely diagnosis and early access to therapy for pediatric patients with GD.

Published
2014

Catalog

Books, media, physical & digital resources
See catalog results