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  • 1
    Language: English
    In: Journal of allergy and clinical immunology, 2015, Vol.137 (1), p.188-196.e4
    Description: Background Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening disease affecting mostly children but also adults and characterized by hyperinflammatory features. A subset of patients, referred to as having familial hemophagocytic lymphohistiocytosis (FHL), have various underlying genetic abnormalities, the frequencies of which have not been systematically determined previously. Objective This work aims to further our understanding of the pathogenic bases of this rare condition based on an analysis of our 25 years of experience. Methods From our registry, we have analyzed a total of 500 unselected patients with HLH. Results Biallelic pathogenic mutations defining FHL were found in 171 (34%) patients; the proportion of FHL was much higher (64%) in patients given a diagnosis during the first year of life. Taken together, mutations of the genes PRF1 (FHL2) and UNC13D (FHL3) accounted for 70% of cases of FHL. Overall, a genetic diagnosis was possible in more than 90% of our patients with FHL. Perforin expression and the extent of degranulation have been more useful for diagnosing FHL than hemophagocytosis and the cytotoxicity assay. Of 281 (56%) patients classified as having “sporadic” HLH, 43 had monoallelic mutations in one of the FHL-defining genes. Given this gene dosage effect, FHL is not strictly recessive. Conclusion We suggest that the clinical syndrome HLH generally results from the combined effects of an exogenous trigger and genetic predisposition. Within this combination, different weights of exogenous and genetic factors account for the wide disease spectrum that ranges from HLH secondary to severe infection to FHL.
    Subject(s): Allergy and Immunology ; immunologic tests ; PRF1 ; Hemophagocytic lymphohistiocytosis ; UNC13D ; Genetic Predisposition to Disease ; Perforin - genetics ; Membrane Proteins - genetics ; Humans ; Middle Aged ; Child, Preschool ; Infant ; Male ; Young Adult ; Adolescent ; Adult ; Female ; Italy ; Registries ; Lymphohistiocytosis, Hemophagocytic - genetics ; Child ; Infant, Newborn ; Lymphohistiocytosis, Hemophagocytic - immunology ; Genetic research ; Transplantation ; Stem cells ; Medical genetics ; Analysis ; Abridged Index Medicus ; Immune Deficiencies, Infection, and Systemic Immune Disorders ; FHL, Familial hemophagocytic lymphohistiocytosis ; HSCT, Hematopoietic stem cell transplantation ; MAS, Macrophage activation syndrome ; XLP, X-linked lymphoproliferative syndrome ; HLH, Hemophagocytic lymphohistiocytosis ; NK, Natural killer
    ISSN: 0091-6749
    E-ISSN: 1097-6825
    Source: Backfile Package - All of Back Files EBS [ALLOFBCKF]
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  • 2
    Language: English
    In: Anticancer research, 2019-03-01, Vol.39 (3), p.1259-1266
    Description: Background/Aim: In the last few decades, treatment strategies for acute lymphoblastic leukemia (ALL) have been associated not only with improvement of prognosis, but also with an increasing rate of late complication as osteonecrosis (ON). Herein, the cumulative incidence, risk factors, new conservative therapeutic strategies as hyperbaric oxygen therapy (HBO), and outcome of symptomatic ON were studied in pediatric patients with ALL. Patients and Methods: Between 2000 and 2017, 495 children and young adolescents with a diagnosis of ALL were evaluated. All the symptomatic patients underwent magnetic resonance imaging (MRI) to detect bone vascularization and structure. Results: Twenty-three out of 495 patients presented ON (4.6%). ON was associated with an older age (p〈0.0001) and a higher steroid dose (p=0.0013). All the patients underwent standard therapies and HBO was performed in 8 of 23 patients. During the follow-up, 15 patients were stable: 6 were totally asymptomatic, 5 complained of pain during activity, and 4 presented mild function limitation. Conclusion: Our data highlight the importance of early diagnosis of ON by screening MRI in asymptomatic patients, in order to start conservative treatment strategies. Moreover, HBO could have beneficial effects on ON patients.
    Subject(s): Life Sciences & Biomedicine ; Oncology ; Science & Technology
    ISSN: 0250-7005
    E-ISSN: 1791-7530
    Source: HighWire Press (Free Journals)
    Source: Web of Science - Science Citation Index Expanded - 2019〈img src="http://exlibris-pub.s3.amazonaws.com/fromwos-v2.jpg" /〉
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  • 3
    Language: English
    In: Leukemia, 2020-06, Vol.34 (6), p.1694-1700
    Subject(s): Cyclophosphamide - administration & dosage ; Prednisone - administration & dosage ; Antineoplastic Combined Chemotherapy Protocols - administration & dosage ; Humans ; Mercaptopurine - administration & dosage ; Child, Preschool ; Infant ; Male ; Treatment Outcome ; Time ; Cytarabine - administration & dosage ; Asparaginase - administration & dosage ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - drug therapy ; Adolescent ; Vincristine - administration & dosage ; Female ; Methotrexate - administration & dosage ; Child ; Daunorubicin - administration & dosage ; Pediatrics
    ISSN: 0887-6924
    E-ISSN: 1476-5551
    Source: Nature Open Access
    Source: Alma/SFX Local Collection
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  • 4
    Language: English
    In: The New England journal of medicine, 2020-05-07, Vol.382 (19), p.1811-1822
    Description: Primary hemophagocytic lymphohistiocytosis, a rare genetic immune disorder characterized by hyperinflammation, manifests in infancy and is associated with high mortality. In a study involving 34 children, an antibody to interferon-γ (emapalumab) produced responses in 65%; it served as a bridge to marrow transplantation in 70% of those who had received previous treatment.
    Subject(s): Antibodies, Neutralizing - administration & dosage ; Infections - etiology ; Humans ; Antibodies, Monoclonal - adverse effects ; Chemokine CXCL9 - blood ; Child, Preschool ; Infant ; Male ; Lymphohistiocytosis, Hemophagocytic - mortality ; Interferon-gamma - antagonists & inhibitors ; Anti-Inflammatory Agents - administration & dosage ; Antibodies, Neutralizing - adverse effects ; Female ; Drug Therapy, Combination ; Child ; Dexamethasone - administration & dosage ; Lymphohistiocytosis, Hemophagocytic - drug therapy ; Kaplan-Meier Estimate ; Hematopoietic Stem Cell Transplantation ; Treatment Outcome ; Lymphohistiocytosis, Hemophagocytic - therapy ; Lymphohistiocytosis, Hemophagocytic - complications ; Antibodies, Monoclonal - administration & dosage ; Adolescent ; Age of Onset ; Histoplasmosis ; Dexamethasone ; Statistical analysis ; Laboratories ; Toxicity ; Mortality ; Stem cell transplantation ; Histiocytosis ; Patients ; Hemopoiesis ; Confidence intervals ; Hypotheses ; γ-Interferon ; Lymphocytosis ; Chemokines ; Abridged Index Medicus
    ISSN: 0028-4793
    E-ISSN: 1533-4406
    Source: Single Journals
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  • 5
    Language: English
    In: Pediatric pulmonology, 2017-10, Vol.52 (10), p.E73-E76
    Description: The autoimmune manifestations of primary immunodeficiencies, such as autoimmune lymphoproliferative syndrome (ALPS) and common variable immunodeficiency (CVID), often constitute a great therapeutic challenge and have a significant impact on patients’ morbidity and mortality. The most common autoimmune presentations are autoimmune cytopenias, but organ‐related autoimmunity is also frequently observed. From a pulmonology perspective, granulomatous/lymphocytic interstitial lung disease (GLILD) is a severe immunological complication which significantly worsens the clinical outcome of these patients and for which there are currently few guidelines or protocols for treatment. We present three cases where the use of Mycophenolate in the context of autoimmune cytopenias proved beneficial also on the lung disease.
    Subject(s): ALPS ; GLILD ; CVID ; mycophenolate ; interstitial lung disease ; Humans ; Immunosuppressive Agents - therapeutic use ; Child, Preschool ; Male ; Treatment Outcome ; Lung Diseases - drug therapy ; Young Adult ; Mycophenolic Acid - therapeutic use ; Adolescent ; Female ; Immunologic Deficiency Syndromes - drug therapy ; Autoimmune Diseases - drug therapy ; Autoimmunity - drug effects ; Autoimmunity ; Lung diseases
    ISSN: 8755-6863
    E-ISSN: 1099-0496
    Source: Alma/SFX Local Collection
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  • 6
    Language: English
    In: The lancet oncology, 2016, Vol.17 (6), p.e231-e239
    Description: Summary Although there are high survival rates for children with acute lymphoblastic leukaemia, their outcome is often counterbalanced by the burden of toxic effects. This is because reported frequencies vary widely across studies, partly because of diverse definitions of toxic effects. Using the Delphi method, 15 international childhood acute lymphoblastic leukaemia study groups assessed acute lymphoblastic leukaemia protocols to address toxic effects that were to be considered by the Ponte di Legno working group. 14 acute toxic effects (hypersensitivity to asparaginase, hyperlipidaemia, osteonecrosis, asparaginase-associated pancreatitis, arterial hypertension, posterior reversible encephalopathy syndrome, seizures, depressed level of consciousness, methotrexate-related stroke-like syndrome, peripheral neuropathy, high-dose methotrexate-related nephrotoxicity, sinusoidal obstructive syndrome, thromboembolism, and Pneumocystis jirovecii pneumonia) that are serious but too rare to be addressed comprehensively within any single group, or are deemed to need consensus definitions for reliable incidence comparisons, were selected for assessment. Our results showed that none of the protocols addressed all 14 toxic effects, that no two protocols shared identical definitions of all toxic effects, and that no toxic effect definition was shared by all protocols. Using the Delphi method over three face-to-face plenary meetings, consensus definitions were obtained for all 14 toxic effects. In the overall assessment of outcome of acute lymphoblastic leukaemia treatment, these expert opinion-based definitions will allow reliable comparisons of frequencies and severities of acute toxic effects across treatment protocols, and facilitate international research on cause, guidelines for treatment adaptation, preventive strategies, and development of consensus algorithms for reporting on acute lymphoblastic leukaemia treatment.
    Subject(s): Hematology, Oncology and Palliative Medicine ; Delphi Technique ; Drug-Related Side Effects and Adverse Reactions - prevention & control ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - therapy ; Humans ; Radiation Tolerance ; Drug-Related Side Effects and Adverse Reactions - etiology ; Toxicity Tests, Acute ; Combined Modality Therapy - adverse effects ; Child ; Consensus
    ISSN: 1470-2045
    E-ISSN: 1474-5488
    Source: Alma/SFX Local Collection
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  • 7
    Language: English
    In: Pediatric blood & cancer, 2017-12, Vol.64 (12), p.e26692-n/a
    Description: Wiskott–Aldrich syndrome (WAS) is an inherited X‐linked disorder characterized by microthrombocytopenia, immunodeficiency, and eczema. Hematopoietic stem cell transplantation (HSCT) is the treatment of choice. Eltrombopag, a thrombopoietin receptor agonist, may be useful to prevent bleeding while awaiting HSCT. We present a case of a male with WAS, profound thrombocytopenia, and bleeding diathesis successfully managed with eltrombopag before HSCT. Eltrombopag was given for 32 weeks obtaining a stable platelet count without any platelet transfusion. The patient did not experience any bleeding symptom. Eltrombopag may be a suitable therapeutic option for patients with WAS and severe thrombocytopenia as “bridge” to definitive cure.
    Subject(s): hematopoietic stem cell transplantation ; Wiskott–Aldrich syndrome ; thrombocytopenia ; eltrombopag ; Hydrazines - therapeutic use ; Pyrazoles - therapeutic use ; Benzoates - therapeutic use ; Humans ; Wiskott-Aldrich Syndrome - drug therapy ; Child, Preschool ; Hematopoietic Stem Cell Transplantation ; Male ; Wiskott-Aldrich syndrome ; Transplantation ; Hematopoietic stem cells
    ISSN: 1545-5009
    E-ISSN: 1545-5017
    Source: Alma/SFX Local Collection
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  • 8
    Language: English
    In: International journal of environmental research and public health, 2020-01-16, Vol.17 (2), p.567
    Description: There is still little research on psychological wellbeing, life satisfaction and reported problems in preadolescents and adolescents under therapy for leukaemia, and also little research comparing them with their healthy peers. The present study aimed to analyse the life satisfaction, hope, psychological wellbeing and reported problems’ intensity in 60 patients aged 8–18 during the first year of therapy, to identify those more at risk and to compare their reports with matched healthy peers. A battery of self-reported questionnaires was administered during hospitalisation or day hospital admissions post 6 months and post 12 months from the diagnosis. Younger patients (aged 8–13 years) were more at risk than older ones in their problems’ intensity and psychological symptoms; females and Acute Myeloid Leukaemia patients reported lower current life satisfaction perceptions; hope was associated with lower depression symptoms and mood problems. Healthy peers have a better perception of current life, but reported a lower hope score, more anxiety symptoms and more cognitive problems than patients. The first 6 months were more critical for patients’ psychological health. Basing on these empirical data, the inclusion of mental health care professionals or supportive psychotherapy into the treatment is recognized as extremely useful.
    Subject(s): life perceptions ; cognitive problems ; psychological wellbeing ; in treatment ; children ; adolescents ; leukaemia ; healthy peers ; hope
    ISSN: 1660-4601
    ISSN: 1661-7827
    E-ISSN: 1660-4601
    Source: PubMed Central
    Source: Alma/SFX Local Collection
    Source: DOAJ Directory of Open Access Journals - Not for CDI Discovery
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  • 9
    Language: English
    In: Clinical cancer research, 2020-02-15, Vol.26 (4), p.812-820
    Description: Purpose: We investigated nilotinib exposure in pediatric patients with chronic myeloid leukemia (CML) or Philadelphia chromosome–positive (Phþ) acute lymphoblastic leukemia (ALL) resistant to, relapsed on, refractory to, or intolerant of previous treatment. Patients and Methods: Fifteen patients (aged 1–〈18 years) with CML resistant to or intolerant of imatinib and/or dasatinib (n ¼ 11) or Phþ ALL relapsed on or refractory to standard therapy (n ¼ 4) enrolled in this phase I study. Nilotinib (230 mg/m2 twice daily; equivalent to the adult 400-mg twice-daily dose) was administered orally in 12 or 24 cycles of 28 days. The primary objective was to characterize the pharmacokinetics of nilotinib in pediatric patients. Results: The area under the concentration–time curve at steady state was slightly lower in pediatric patients versus adults (14,751.4 vs. 17,102.9 ng/h/mL); the geometric mean ratio (GMR; pediatric:adult) was 0.86 [90% confidence interval (CI), 0.70–1.06]. Body surface area–adjusted systemic clearance was slightly higher in pediatric versus adult patients (GMR, 1.30; 90% CI, 1.04–1.62). Nilotinib was generally well tolerated. The most common adverse events were headache, vomiting, increased blood bilirubin, and rash. Three patients with CML achieved major molecular response, and three with Phþ ALL achieved complete remission. Conclusions: Nilotinib 230 mg/m2 twice daily in pediatric patients provided a pharmacokinetics and safety profile comparable with the adult reference dose; clinical activity was demonstrated in both CML and Phþ ALL. This dose is recommended for further evaluation in pediatric patients. The safety profile was consistent with that in adults.
    Subject(s): Oncology ; Cancer Research
    ISSN: 1078-0432
    E-ISSN: 1557-3265
    Source: HighWire Press (Free Journals)
    Source: Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
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  • 10
    Language: English
    In: European radiology, 2020-06, Vol.30 (6), p.3217-3225
    Description: R2* cardiac magnetic resonance (CMR) allows the non-invasive measurement of myocardial iron. We calibrated cardiac R2* values against myocardial tissue-measured iron concentration by using a segmental approach and we assessed the iron distribution. Five hearts of thalassemia patients were donated after death/transplantation to the CoreLab of the Myocardial Iron Overload in Thalassemia Network. A multislice multiecho R2* approach was adopted. After CMR, used as guidance, the heart was cut in three short-axis slices and each slice was cut into different equiangular segments according to AHA segmentation and differentiated into endocardial and epicardial layers. Tissue iron concentration was measured by atomic absorption spectrometer technique. Fifty-five samples were used since only for two hearts all the 16 samples were analyzed. Mean iron concentration was 4.71 ± 4.67 mg/g dw. Segmental iron levels ranged from 0.24 to 13.78 mg/g dw. The coefficient of variability of iron for myocardial segments ranged from 8.08 to 24.54% (mean 13.49 ± 6.93%). Iron concentration was significantly higher in the epicardial than in the endocardial layer (5.99 ± 6.01 vs 4.84 ± 4.87 mg/g dw; p = 0.042). Four different circumferential regions (anterior, septal, inferior, and lateral) were defined. A circumferential heterogeneity was noted, with more iron in the anterior region, followed by the inferior region. The direct nonlinear fitting of R2* and [Fe] data led to the calibration curve: [Fe] = 0.0022 ∙ (R2*-ROI) (R-square = 0.956). Our data further validate R2* CMR using a segmental approach as a sensitive and early technique for quantifying iron distribution in the current clinical practice. • Calibration in humans for cardiovascular magnetic resonance R2* against myocardial iron concentration was provided. • A circumferential heterogeneity in cardiac iron distribution was detected: more iron was observed in the anterior region, followed by the inferior region. This finding corroborates the use of a segmental T2* CMR approach in the clinical practice to detect a heterogeneous iron distribution. • The comparison between the cardiac T2* values obtained with the region-based and the pixel-wise approaches showed a significant correlation and no significant difference but, in presence of significant iron load, the region-based approach resulted in significantly higher T2* values.
    Subject(s): Cardiac patients
    ISSN: 0938-7994
    E-ISSN: 1432-1084
    Source: Alma/SFX Local Collection
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