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  1. Article ; Online: Immune neutropenias of infancy and childhood.

    Farruggia, Piero

    World journal of pediatrics : WJP

    2016  Volume 12, Issue 2, Page(s) 142–148

    Abstract: Background: Anti-neutrophil antibodies are a well-recognized cause of neutropenia, producing a potential increase in risk of infection: in the majority of patients antibodies react against antigens located on the IgG Fc receptor type 3b (FcRIIIb), but ... ...

    Abstract Background: Anti-neutrophil antibodies are a well-recognized cause of neutropenia, producing a potential increase in risk of infection: in the majority of patients antibodies react against antigens located on the IgG Fc receptor type 3b (FcRIIIb), but other target antigens have been identified.
    Data sources: In this review the most important papers of auto and alloimmune neutropenias of infancy and childhood were analyzed. PubMed, Google Scholar and Thompson ISI Web of Knowledge were searched for identifying relevant papers.
    Results: Primary autoimmune neutropenia of infancy is mostly a benign condition with self-limited course, whereas isolated alloimmune neonatal neutropenia or secondary autoimmune neutropenia may be occasionally complicated by severe infections.
    Conclusion: Granulocyte colony stimulating factor is an effective therapy for patients affected by all types of autoimmune and alloimmune neutropenia, even though most of them do not need any therapy.
    MeSH term(s) Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; Neutropenia/immunology
    Language English
    Publishing date 2016-05
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2236681-7
    ISSN 1867-0687 ; 1708-8569
    ISSN (online) 1867-0687
    ISSN 1708-8569
    DOI 10.1007/s12519-015-0056-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: A self-repair history: compensatory effect of a

    Persico, Ilaria / Fontana, Giorgia / Faleschini, Michela / Zanchetta, Melania Eva / Ammeti, Daniele / Cappelli, Enrico / Corsolini, Fabio / Mosa, Clara / Guarina, Angela / Bogliolo, Massimo / Surrallés, Jordi / Dufour, Carlo / Farruggia, Piero / Savoia, Anna / Bottega, Roberta

    Frontiers in genetics

    2023  Volume 14, Page(s) 1209138

    Abstract: Introduction: ...

    Abstract Introduction:
    Language English
    Publishing date 2023-07-20
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2023.1209138
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Pearson syndrome.

    Farruggia, Piero / Di Marco, Floriana / Dufour, Carlo

    Expert review of hematology

    2018  Volume 11, Issue 3, Page(s) 239–246

    Abstract: Introduction: Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review ... ...

    Abstract Introduction: Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert commentary: PS is a very rare mitochodrial disease that involves different organs and systems. Clinical phenotype is extremely variable and may change over the course of disease itself with the possibility both of worsenings and improvements. Outcome is invariably lethal and at the moment no cure is available. Accurate supportive treatment and follow up program in centres with experience in mitochondrial diseases and marrow failure may positively influence quality and duration of life.
    MeSH term(s) Acyl-CoA Dehydrogenase, Long-Chain/deficiency ; Acyl-CoA Dehydrogenase, Long-Chain/genetics ; Acyl-CoA Dehydrogenase, Long-Chain/metabolism ; Anemia, Sideroblastic/genetics ; Anemia, Sideroblastic/metabolism ; Anemia, Sideroblastic/pathology ; Anemia, Sideroblastic/therapy ; DNA, Mitochondrial/genetics ; DNA, Mitochondrial/metabolism ; Humans ; Lipid Metabolism, Inborn Errors/genetics ; Lipid Metabolism, Inborn Errors/metabolism ; Lipid Metabolism, Inborn Errors/pathology ; Lipid Metabolism, Inborn Errors/therapy ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/metabolism ; Mitochondrial Diseases/pathology ; Mitochondrial Diseases/therapy ; Muscular Diseases/genetics ; Muscular Diseases/metabolism ; Muscular Diseases/pathology ; Muscular Diseases/therapy
    Chemical Substances DNA, Mitochondrial ; Acyl-CoA Dehydrogenase, Long-Chain (EC 1.3.8.8)
    Language English
    Publishing date 2018-01-23
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2516804-6
    ISSN 1747-4094 ; 1747-4086
    ISSN (online) 1747-4094
    ISSN 1747-4086
    DOI 10.1080/17474086.2018.1426454
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Diagnosis and management of primary autoimmune neutropenia in children: insights for clinicians.

    Farruggia, Piero / Dufour, Carlo

    Therapeutic advances in hematology

    2015  Volume 6, Issue 1, Page(s) 15–24

    Abstract: Autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (FcγIIIb receptor), causing ... ...

    Abstract Autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (FcγIIIb receptor), causing their peripheral destruction. It is the most frequent type of neutropenia in children under 3-4 years of age and in most cases shows a benign, self-limited course. The diagnosis is based on evidence of indirect antineutrophil antibodies, whose detection frequently remains difficult. In this review we have analyzed the literature regarding AIN and present our personal experience in diagnosis and management.
    Language English
    Publishing date 2015-01-24
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2585183-4
    ISSN 2040-6215 ; 2040-6207
    ISSN (online) 2040-6215
    ISSN 2040-6207
    DOI 10.1177/2040620714556642
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Pediatric immune thrombocytopenia: a focus on eltrombopag as second-line therapy.

    Palumbo, Giuseppe / Farruggia, Piero / Ramenghi, Ugo / Russo, Giovanna / Borchiellini, Alessandra / Spinelli, Marco / Dufour, Carlo / Giona, Fiorina / Ladogana, Saverio / Zecca, Marco / Perrotta, Silverio / Pession, Andrea / Giordano, Paola

    Hematology (Amsterdam, Netherlands)

    2023  Volume 28, Issue 1, Page(s) 2210906

    Abstract: Background: Immune thrombocytopenia (ITP) is the most common acquired bleeding disorder. In both children and adults, the primary goal of any therapeutic approach consists of cessation of bleeding and its prevention. Several options are currently ... ...

    Abstract Background: Immune thrombocytopenia (ITP) is the most common acquired bleeding disorder. In both children and adults, the primary goal of any therapeutic approach consists of cessation of bleeding and its prevention. Several options are currently available for first-line therapy in Europe, including corticosteroids and intravenous immunoglobulin (IVIg) infusion, which has a similar efficacy and safety profile in both the pediatric and adult populations. When second-line therapy is needed in the pediatric setting, current guidelines recommend eltrombopag as the drug of choice.
    Procedure: The aim of this article is to summarize the available evidence and present real-life experience on eltrombopag as second-line therapy in pediatric patients with ITP, with a focus on dosing and response to therapy as well as its tapering and discontinuation.
    Results: In our setting, eltrombopag is associated with good safety profile as well as promising efficacy; dose de-escalation was feasible in 94% of cases and often reached very low pro/kg dosage, with full discontinuation in 15% of cases. In daily practice, a standardized approach for discontinuation of eltrombopag in pediatric patients with ITP is still lacking. Herein, an easy-to-use scheme for tapering and discontinuation in candidate pediatric patients is proposed that proposes 25% dose reduction every four weeks.
    Conclusions: In future management of pediatric ITP patients, it will be crucial to assess if thrombopoietin receptor agonists might be more effective in earlier phases of the disease and can modify the course of the disease.
    MeSH term(s) Adult ; Humans ; Child ; Purpura, Thrombocytopenic, Idiopathic/drug therapy ; Thrombocytopenia/chemically induced ; Benzoates/adverse effects ; Hydrazines/adverse effects
    Chemical Substances eltrombopag (S56D65XJ9G) ; Benzoates ; Hydrazines
    Language English
    Publishing date 2023-05-19
    Publishing country England
    Document type Journal Article
    ZDB-ID 1341428-8
    ISSN 1607-8454 ; 1024-5332 ; 1024-5340
    ISSN (online) 1607-8454
    ISSN 1024-5332 ; 1024-5340
    DOI 10.1080/16078454.2023.2210906
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: The European Guidelines on Diagnosis and Management of Neutropenia in Adults and Children: A Consensus Between the European Hematology Association and the EuNet-INNOCHRON COST Action.

    Fioredda, Francesca / Skokowa, Julia / Tamary, Hannah / Spanoudakis, Michail / Farruggia, Piero / Almeida, Antonio / Guardo, Daniela / Höglund, Petter / Newburger, Peter E / Palmblad, Jan / Touw, Ivo P / Zeidler, Cornelia / Warren, Alan J / Dale, David C / Welte, Karl / Dufour, Carlo / Papadaki, Helen A

    HemaSphere

    2023  Volume 7, Issue 4, Page(s) e872

    Abstract: Neutropenia, as an isolated blood cell deficiency, is a feature of a wide spectrum of acquired or congenital, benign or premalignant disorders with a predisposition to develop myelodysplastic neoplasms/acute myeloid leukemia that may arise at any age. In ...

    Abstract Neutropenia, as an isolated blood cell deficiency, is a feature of a wide spectrum of acquired or congenital, benign or premalignant disorders with a predisposition to develop myelodysplastic neoplasms/acute myeloid leukemia that may arise at any age. In recent years, advances in diagnostic methodologies, particularly in the field of genomics, have revealed novel genes and mechanisms responsible for etiology and disease evolution and opened new perspectives for tailored treatment. Despite the research and diagnostic advances in the field, real world evidence, arising from international neutropenia patient registries and scientific networks, has shown that the diagnosis and management of neutropenic patients is mostly based on the physicians' experience and local practices. Therefore, experts participating in the European Network for the Innovative Diagnosis and Treatment of Chronic Neutropenias have collaborated under the auspices of the European Hematology Association to produce recommendations for the diagnosis and management of patients across the whole spectrum of chronic neutropenias. In the present article, we describe evidence- and consensus-based guidelines for the definition and classification, diagnosis, and follow-up of patients with chronic neutropenias including special entities such as pregnancy and the neonatal period. We particularly emphasize the importance of combining the clinical findings with classical and novel laboratory testing, and advanced germline and/or somatic mutational analyses, for the characterization, risk stratification, and monitoring of the entire spectrum of neutropenia patients. We believe that the wide clinical use of these practical recommendations will be particularly beneficial for patients, families, and treating physicians.
    Language English
    Publishing date 2023-03-30
    Publishing country United States
    Document type Journal Article
    ISSN 2572-9241
    ISSN (online) 2572-9241
    DOI 10.1097/HS9.0000000000000872
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Pediatric gray zone lymphoma according to the 2022 WHO classification: An Italian cohort study.

    Restivo, Giulia Angela / Farruggia, Piero / Pillon, Marta / Mascarin, Maurizio / Elia, Caterina / Recupero, Santina / Muggeo, Paola / Cagnazzo, Celeste / Onofrillo, Daniela / Mura, Rosamaria / Furfari, Ilaria / Trizzino, Angela / Bertolini, Patrizia / Sala, Alessandra / De Santis, Raffaela / Galimberti, Daniela / Schiavello, Elisabetta / Carraro, Elisa

    Pediatric blood & cancer

    2023  , Page(s) e30481

    Abstract: Background: The 2022 World Health Organization (WHO) classification redefines the concept of gray zone lymphoma (GZL), restricting it in practice to cases of mediastinal/thymic origin (mediastinal gray zone lymphoma, MGZL) with overlapping features ... ...

    Abstract Background: The 2022 World Health Organization (WHO) classification redefines the concept of gray zone lymphoma (GZL), restricting it in practice to cases of mediastinal/thymic origin (mediastinal gray zone lymphoma, MGZL) with overlapping features between primary mediastinal B-cell lymphoma (PMBCL) and classical Hodgkin lymphoma (CHL). Cases with histological characteristics of GZL but occurring without mediastinal involvement are better classified as diffuse large B-cell lymphoma, not otherwise specified (DLBCL NOS), with few exceptions.
    Procedure: We collected clinical and pathological data about all Italian pediatric patients diagnosed with GZL over a 20-year period.
    Results: We identified only four cases of bona fide MGZL. All patients were adolescent and presented with a mediastinal disease, always associated with other nodal involvement. B symptoms and increased levels of both erythrocyte sedimentation rate (ESR) and lactate dehydrogenase (LDH) were observed. Only two patients achieved a first complete remission, suggesting a more aggressive clinical behavior than either PMBCL or CHL.
    Conclusion: Prospective studies evaluating prognostic factors and establishing the most effective first-line therapy for MGZL are highly needed.
    Language English
    Publishing date 2023-05-30
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.30481
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Extranodal Biphenotypic Non-Hodgkin Lymphoma of the Popliteal Cavity: A Case Report and Review of Literature.

    Restivo, Giulia A / Mussolin, Lara / D'Angelo, Paolo / Zin, Angelica / Pigazzi, Martina / Carraro, Elisa / D'Amore, Emanuele S G / Pillon, Marta / Farruggia, Piero

    Diagnostics (Basel, Switzerland)

    2022  Volume 12, Issue 7

    Abstract: Primary soft-tissue lymphoma (PSTL) is a rare extranodal non-Hodgkin lymphoma, characterized by a mass growing within soft-tissue, which is connective tissue, adipose tissue, and skeletal muscle. Here, we describe a case of biphenotypic lymphoblastic ... ...

    Abstract Primary soft-tissue lymphoma (PSTL) is a rare extranodal non-Hodgkin lymphoma, characterized by a mass growing within soft-tissue, which is connective tissue, adipose tissue, and skeletal muscle. Here, we describe a case of biphenotypic lymphoblastic lymphoma arising from soft tissue of the popliteal fossa in an 11-year-old boy. A pediatric review about PSTL revealed that anaplastic large cell lymphoma is the most common histological type and a biphenotypic lymphoblastic lymphoma has not yet been reported in childhood. Lymphoma should always be considered in patients presenting with a soft-tissue mass, and a comprehensive immunohistochemical evaluation, including B-cell, T-cell, and myeloid markers, is needed to make a correct diagnosis and establish the most suitable treatment.
    Language English
    Publishing date 2022-07-07
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2662336-5
    ISSN 2075-4418
    ISSN 2075-4418
    DOI 10.3390/diagnostics12071649
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Diagnosis and management of neutropenia in children: The approach of the Study Group on Neutropenia and Marrow Failure Syndromes of the Pediatric Italian Hemato-Oncology Association (Associazione Italiana Emato-Oncologia Pediatrica - AIEOP).

    Fioredda, Francesca / Onofrillo, Daniela / Farruggia, Piero / Barone, Angelica / Veltroni, Marinella / Notarangelo, Lucia Dora / Menna, Giuseppe / Russo, Giovanna / Martire, Baldassarre / Finocchi, Andrea / Verzegnassi, Federico / Bonanomi, Sonia / Ramenghi, Ugo / Pillon, Marta / Dufour, Carlo

    Pediatric blood & cancer

    2022  Volume 69, Issue 6, Page(s) e29599

    Abstract: Neutropenia refers to a group of diseases characterized by a reduction in neutrophil levels below the recommended age threshold. The present study aimed to review the diagnosis and management of neutropenia, including a diagnostic toolkit and candidate ... ...

    Abstract Neutropenia refers to a group of diseases characterized by a reduction in neutrophil levels below the recommended age threshold. The present study aimed to review the diagnosis and management of neutropenia, including a diagnostic toolkit and candidate underlying genes. This study also aimed to review the progress toward the definition of autoimmune and idiopathic neutropenia rising in infancy or in late childhood but without remission, and provide suggestions for efficient diagnostics, including indications for the bone marrow and genetic testing. The management and treatment protocols for common and unique presentations are also reviewed, providing evidence tailored to a single patient.
    MeSH term(s) Bone Marrow ; Bone Marrow Transplantation ; Child ; Humans ; Italy ; Medical Oncology ; Neutropenia/diagnosis ; Neutropenia/therapy ; Syndrome
    Language English
    Publishing date 2022-03-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.29599
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Rasburicase-induced Methemoglobinemia: A Case Report and Literature Review.

    Pirrone, Ilaria / Farruggia, Piero / Cacciatore, Francesca / Giambona, Antonino / Guarina, Angela / Marcello, Anna Paola / Mosa, Clara / Scalzo, Simona / D'Angelo, Paolo

    Journal of pediatric hematology/oncology

    2020  Volume 43, Issue 6, Page(s) e886–e890

    Abstract: Rasburicase is a recombinant urate oxidase enzyme indicated for tumor lysis syndrome, a potential life-threatening oncologic emergency that occurs most commonly during initial chemotherapy for hematological malignancies. As a result of the defects in the ...

    Abstract Rasburicase is a recombinant urate oxidase enzyme indicated for tumor lysis syndrome, a potential life-threatening oncologic emergency that occurs most commonly during initial chemotherapy for hematological malignancies. As a result of the defects in the physiological antioxidant pathway, erythrocytes of patients with glucose-6-phosphate dehydrogenase deficiency are not protected against the oxidizing stress exerted by hydrogen peroxide generated with the administration of rasburicase. The authors report a 14-year-old patient, diagnosed with T-cell acute lymphoblastic leukemia, who developed methemoglobinemia and hemolytic anemia with low oxygen saturation after starting steroids, hyperhydratation, and rasburicase administration. The complications resolved with supportive therapy only.
    MeSH term(s) Adolescent ; Anemia, Hemolytic/chemically induced ; Anemia, Hemolytic/diagnosis ; Humans ; Male ; Methemoglobinemia/chemically induced ; Methemoglobinemia/diagnosis ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/diagnosis ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Recombinant Proteins/adverse effects ; Recombinant Proteins/therapeutic use ; Urate Oxidase/adverse effects ; Urate Oxidase/therapeutic use
    Chemical Substances Recombinant Proteins ; rasburicase (08GY9K1EUO) ; Urate Oxidase (EC 1.7.3.3)
    Language English
    Publishing date 2020-10-29
    Publishing country United States
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000001979
    Database MEDical Literature Analysis and Retrieval System OnLINE

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