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1.
J Allergy Clin Immunol Pract ; 8(1): 273-282, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31377437

RESUMO

BACKGROUND: Rituximab (RTX; anti-CD20 mAb) is a treatment option in children with refractory immune thrombocytopenia, autoimmune hemolytic anemia (AHA), and Evans syndrome (ES). Prevalence and clinical course of RTX-induced hypogammaglobulinemia in these patients are poorly known. OBJECTIVE: To evaluate the prevalence and risk factors for persistent hypogammaglobulinemia (PH) after RTX use. METHODS: Clinical and immunologic data from children treated with RTX for immune thrombocytopenia, AHA, and ES were collected from 16 Italian centers and 1 UK center at pre-RTX time point (0), +6 months, and yearly, up to 4 years post-RTX. Patients with previously diagnosed malignancy or primary immune deficiency (PID) were excluded. RESULTS: We analyzed 53 children treated with RTX for immune thrombocytopenia (n = 36), AHA (n = 13), and ES (n = 4). Median follow-up was 30 months (range, 12-48). Thirty-two percent of patients (17 of 53) experienced PH, defined as IgG levels less than 2 SD for age at last follow-up (>12 months after RTX). Significantly delayed B-cell recovery was observed in children experiencing PH (hazard ratio, 0.55; P < .05), and 6 of 17 (35%) patients had unresolved B-cell lymphopenia at last follow-up. PH was associated with IgA and IgM deficiency, younger age at RTX use (51 vs 116 months; P < .01), a diagnosis of AHA/ES, and better response to RTX. Nine patients with PH (9 of 17 [53%]) were eventually diagnosed with a PID. CONCLUSIONS: Post-RTX PH is a frequent condition in children with autoimmune cytopenia; a sizable proportion of patients with post-RTX PH were eventually diagnosed with a PID. In-depth investigation for PID is therefore recommended in these patients.

2.
J Clin Immunol ; 2019 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-31863244

RESUMO

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by life-threatening infections, inflammation, and autoimmunity with an impact on health-related quality of life (HRQoL). Few data are available for children, whereas no study has been conducted in adults. Here, we investigated HRQoL and emotional functioning of 19 children and 28 adults enrolled in Italian registry for CGD. PEDsQL and SDQ were used for children and their caregivers, and adults completed the SF-12 questionnaire. Mean scores were compared with norms and with patients affected by chronic diseases. Comparisons were made for CGD patients who underwent or not hematopoietic stem cell transplantation (HSCT). When compared with norms, CGD children exhibited higher difficulties in social/school areas, peer relationship, and conduct/emotional problems (< 5 years of age), as scored by proxies. Differently, CGD adults reported higher difficulties both in mental and physical area than norms. Only for children, clinical status had a damaging effect on psychosocial and school dimensions, whereas age had a negative impact on social areas. No significant difference was observed between patients treated or not with HSCT. When compared with patients affected by chronic diseases, CGD children and adults both displayed fewer physical disabilities. Differently, in mental scale adults scored lower than those with rheumatology diseases and had similar impairment in comparison with patients with diabetes mellitus and cancer. This study emphasized the impact of CGD on HRQoL since infancy and its decline in adulthood, with emotional difficulties occurring early. HRQoL impairment should be considered in clinical picture of CGD and pro-actively assessed and managed by clinicians.

3.
Pediatr Allergy Immunol Pulmonol ; 32(2): 70-75, 2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-31508259

RESUMO

Background: Subcutaneous immunoglobulin G (SCIG) may be a better option than intravenous immunoglobulin G (IVIG) for patients with primary immunodeficiencies (PID) due to reduced systemic and serious adverse reactions and easier administration. The Infusione Bimensile di Immunoglobuline Sottocute (IBIS) study investigated the effects of Hizentra®, a 20%-concentrated SCIG, administered biweekly in patients with PID. This subanalysis aimed to evaluate clinical and laboratory outcomes in the IBIS pediatric subcohort. Methods: Thirteen children with PID were observed for 12 months retrospectively (with previous IVIG/SCIG) and prospectively with biweekly Hizentra. Results: Mean ± standard deviation serum IG levels during the retrospective (833.8 ± 175.7 mg/dL) and the prospective (842.0 ± 188.0 mg/dL) phases were comparable; there were also no differences in the number of infections. Conclusions: Biweekly Hizentra is a noninferior option with respect to previous IVIG/SCIG-based treatment.

4.
J Clin Immunol ; 38(5): 602-609, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29951948

RESUMO

Immunoglobulin G (IgG) replacement therapy is a standard treatment for patients with primary immunodeficiency diseases (PIDs). Hizentra®, a 20% human subcutaneous IgG (SCIG), is approved for biweekly administration for PIDs. The aim of the multicenter IBIS study was to prospectively investigate the efficacy of biweekly Hizentra® compared with previous IVIG or SCIG treatment regimens in patients with PIDs. The study consisted of a 12-month retrospective period followed by 12-month prospective observational period. The main endpoints included pre-infusion IgG concentrations, proportion of patients with serious bacterial infections (SBIs), other infections, hospitalizations due to PID-related illnesses, and days with antibiotics during the study periods. Of the 36 patients enrolled in the study, 35 patients continued the study (mean age 26.1 ± 14.4 years; 68.6% male). The mean pre-infusion IgG levels for prior immunoglobulin regimens during the retrospective period (7.84 ± 2.09 g/L) and the prospective period (8.55 ± 1.76 g/L) did not show any significant variations (p = 0.4964). The mean annual rate of SBIs/patient was 0.063 ± 0.246 for both prospective and retrospective periods. No hospitalizations related to PIDs were reported during the prospective period versus one in the retrospective period. All patients were either very (76.5%) or quite (23.5%) satisfied with biweekly Hizentra® at the end of the study. In conclusion, the IBIS study provided real-world evidence on the efficacy of biweekly Hizentra® in patients with PIDs, thus verifying the data generated by the pharmacometric modeling and simulation study in a normal clinical setting.


Assuntos
Imunoglobulina G/administração & dosagem , Síndromes de Imunodeficiência/tratamento farmacológico , Adulto , Estudos de Coortes , Esquema de Medicação , Feminino , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/diagnóstico , Masculino , Satisfação do Paciente , Resultado do Tratamento , Adulto Jovem
5.
Hematol Rep ; 9(2): 7012, 2017 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-28626543

RESUMO

We report a case of paroxysmal nocturnal hemoglobinuria (PNH) in a 14 year-old girl presenting a cerebral arterial thrombosis. The initial diagnosis was carential anemia due to menarche following identification of slight macrocytic anemia, leucopenia and mild thrombocytopenia at routine blood analysis. The child was eventually referred to a children's hospital after the onset of progressive fatigue, anorexia and paleness. Severe anemia (hemoglobin 6 g/dL) with negative Coombs test, mild leucopenia (white blood cells 4.9×109/L) and thrombocytopenia (platelets 97×109/L) and high values of lactate dehydrogenase (2855 U/L) were identified; a packed red cells transfusion was administered. Her condition worsened and she subsequently presented complete right hemiplegia, aphasia and coma; magnetic resonance imaging revealed a massive ischemic lesion. A diagnosis of PNH was eventually made following high sensitivity flow cytometry, which identified a PNH clone (CD66b negative equal to 93.7% of granulocytes). Fast recovery from neurologic and hematological problems occurred in response to anticoagulant therapy and intravenous therapy with eculizumab. We are convinced that PNH should be included in the differential diagnosis of children presenting with cytopenia.

6.
Int J Immunopathol Pharmacol ; 30(1): 73-82, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27927705

RESUMO

In patients with primary antibody deficiencies, subcutaneous administration of IgG (SCIG) replacement is effective, safe, well-tolerated, and can be self-administered at home. A new SCIG replacement at 20% concentration (Hizentra®) has been developed and has replaced Vivaglobin® (SCIG 16%). An observational prospective multi-centric open-label study, with retrospective comparison was conducted in 15 Italian centers, in order to investigate whether and to what extent switching to Hizentra® would affect frequency of infusions, number of infusion sites, patients' satisfaction, and tolerability in patients previously treated with Vivaglobin® or intravenous immunoglobulins (IVIG). Any variations of dosage, frequency and duration of the infusions, and of number of infusion sites induced by Hizentra® with respect to the former treatment were recorded. Practical advantages and disadvantages of Hizentra®, with respect to the medicinal product formerly used, and the variations in patients' therapy-related satisfaction were monitored by means of the TSQM (Treatment Satisfaction Questionnaire for Medication); number, frequency, and duration of infectious events and adverse effects were recorded. Eighty-two patients switched to Hizentra®: 19 (23.2%) from IVIG and 63 (76.8%) from Vivaglobin®. The mean interval between infusions was not affected by the shift (7.0 ± 2.0 days with previous treatment versus 7.1 ± 1.2 during Hizentra®). A decrease in the number of infusion sites with Hizentra® was recorded in 12 out of 56 patients for whom these data were available. At 6 months, 89.7% of patients were satisfied with Hizentra®; no difference in terms of effectiveness, side effects, convenience, and global satisfaction was observed. No difference in the incidence of adverse events was reported.


Assuntos
Imunoglobulina G/administração & dosagem , Síndromes de Imunodeficiência/tratamento farmacológico , Administração Intravenosa , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Imunoglobulina G/sangue , Imunoglobulina G/uso terapêutico , Imunoglobulinas/administração & dosagem , Imunoglobulinas/uso terapêutico , Imunoglobulinas Intravenosas/administração & dosagem , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/sangue , Injeções Subcutâneas , Masculino , Pessoa de Meia-Idade , Adulto Jovem
9.
Clin Drug Investig ; 35(3): 179-85, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25672929

RESUMO

BACKGROUND AND OBJECTIVES: Subcutaneous immunoglobulin (SCIG) therapy is becoming increasingly popular as self-administration is possible because intravenous access is unnecessary, and there is a lower frequency of systemic adverse events. The aim of this study was to evaluate the shifting from intravenous immunoglobulins (IVIGs) replacement therapy to SCIG in patients with primary immunodeficiency (PID) in a routine real-life situation. METHODS: In a multicenter prospective observational study, we enrolled 50 patients suffering from PID who were monitored for 24 months; 44 patients switched from IVIG and six from different SCIG preparations. The study preparation (human IgG 16 %, Vivaglobin(®), CSL Behring GmbH, Germany) was subcutaneously infused weekly (maximum volume 15 mL/site; maximum infusion rate 22 mL/h). The study endpoints were: annual rate of severe bacterial infections (SBIs), local adverse reactions, quality of life, days off school/work, and days of hospitalization. RESULTS: Thirty-three of 39 (84.6 %) patients who completed the study experienced an infection or signs thereof. Only five SBIs were observed, corresponding to an annual rate of 0.056 episodes per patient in 44 subjects [intention-to-treat (ITT) population]. A significant decrease in both days of hospitalization (1.93 ± 4.08 vs. 0.64 ± 2.94) and days off school/work (15.27 ± 23.17 vs. 2.26 ± 4.45) was recorded at 24 months. Local reactions were observed in 14/50 (28 %) patients, mainly consisting of skin manifestations at the injection site. Only three (6.8 %) patients discontinued due to infusion site reactions. In patients shifting from IVIG to SCIG, the total mean score of Life Quality Index (LQI) improved from 76.9 ± 16.8 to 90.7 ± 11.6 (P < 0.01) at 6 months; there was an improvement also in the overall patients' evaluation. CONCLUSIONS: A total of 93.2 % patients tolerated the new route of administration and reported a significant improvement in their LQI. Our results from a routine clinical practice in a real-life population are consistent with those of phase III clinical studies.


Assuntos
Imunoglobulinas/imunologia , Imunoglobulinas/uso terapêutico , Síndromes de Imunodeficiência/imunologia , Síndromes de Imunodeficiência/terapia , Adolescente , Adulto , Feminino , Humanos , Imunoglobulinas/administração & dosagem , Injeções Subcutâneas , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto Jovem
10.
J Pediatr ; 164(6): 1475-80.e2, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24657119

RESUMO

OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. STUDY DESIGN: A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. RESULTS: The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations (P = .015) and speech disorders (P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. CONCLUSIONS: Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.


Assuntos
Anormalidades Múltiplas/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Síndrome de DiGeorge/diagnóstico , Progressão da Doença , Monitorização Fisiológica/métodos , Anormalidades Múltiplas/epidemiologia , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Cromossomos Humanos Par 22/genética , Diagnóstico Tardio , Deficiências do Desenvolvimento/diagnóstico , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/terapia , Diagnóstico Precoce , Feminino , Seguimentos , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Fatores de Tempo , Adulto Jovem
11.
Int J Infect Dis ; 23: 25-7, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24661930

RESUMO

Genital warts caused by human papillomavirus (HPV) are the most frequent sexually transmitted infection. We describe a case of severe perianal and genital HPV infection in a patient with acquired aplastic anemia, unresponsive to traditional therapies and treated effectively with a combination of interferon and ribavirin.


Assuntos
Anemia Aplástica/complicações , Condiloma Acuminado/tratamento farmacológico , Condiloma Acuminado/virologia , Interferon-alfa/uso terapêutico , Ribavirina/uso terapêutico , Linfócitos T CD4-Positivos/efeitos dos fármacos , Linfócitos T CD4-Positivos/metabolismo , Condiloma Acuminado/complicações , Combinação de Medicamentos , Feminino , Humanos , Papillomaviridae/efeitos dos fármacos , Resultado do Tratamento , Adulto Jovem
12.
J Clin Immunol ; 33(7): 1185-91, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23975689

RESUMO

PURPOSE: A sensitive imaging technique that assesses ataxia telangiectasia (AT) lung disease without ionizing radiation is highly desirable. We designed a study to evaluate lung changes using magnetic resonance imaging (MRI), and to investigate the relationships among severity and extent of pulmonary abnormalities and clinical, microbiological and functional data in children and young adults with AT. METHODS: Fifteen AT patients (age, 11.3 years; range, 6-31) underwent 3.0-T MRI, spirometry, and deep throat or sputum culture. Images were scored using a modified Helbich score. RESULTS: Although only 8 patients (53 %) had recurrent/chronic respiratory symptoms, MRI identified lung abnormalities in all. Bronchiectasis, peribronchial thickening, mucous plugging, and collapse/consolidation were present in 60 %, 87 %, 67 %, and 13 % of cases, respectively, with no difference between subjects with or without respiratory symptoms. No difference in changes of specific scores was found between the two groups, but the total MRI score was higher in patients with respiratory symptoms (6.5 versus 5, respectively; p = 0.02). Total or specific MRI scores were not associated with patients' age. Of all scores, only mucous plugging subscore appeared significantly related to FEV1 (r = 0.7, p = 0.04) and FEF25-75% (r = 0.9, p = 0.001). MRI scores from patients with positive (n = 5) or negative (n = 10) sputum culture were not significantly different. CONCLUSIONS: MRI is valuable in the assessment of extent and severity of pulmonary changes in children and adults with AT. It represents an helpful tool for the longitudinal evaluation of patients and may be also used as an outcome surrogate to track the effects of medications.


Assuntos
Ataxia Telangiectasia/diagnóstico , Bronquiectasia/diagnóstico , Pulmão/patologia , Imagem por Ressonância Magnética , Adolescente , Adulto , Ataxia Telangiectasia/fisiopatologia , Bronquiectasia/fisiopatologia , Criança , Progressão da Doença , Estudos de Viabilidade , Feminino , Humanos , Pulmão/diagnóstico por imagem , Masculino , Muco/metabolismo , Cintilografia , Testes de Função Respiratória , Adulto Jovem
13.
J Pediatr Hematol Oncol ; 35(6): 478-81, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23892353

RESUMO

Ewing sarcoma (ES) is the second most common type of primary bone malignancy, and retains a high propensity to metastasize; the prognosis of patients with disseminated disease is very poor, with an event-free survival rate of <20%. Current multimodality treatment for ES consists of combined chemotherapy before and concurrent with surgery and local radiotherapy for the involved bone. Cisplatin is one of the most widely used drugs for the treatment of bone tumors in children, but is not currently used in ES. We describe a child with multifocal ES, treated with a phase II trial including a single-drug window therapy, which displayed a dramatic response to 2 courses of cisplatin and had a favorable outcome.


Assuntos
Antineoplásicos/administração & dosagem , Neoplasias Ósseas/tratamento farmacológico , Cisplatino/administração & dosagem , Sarcoma de Ewing/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Ósseas/radioterapia , Criança , Ensaios Clínicos Fase II como Assunto , Terapia Combinada , Humanos , Masculino , Sarcoma de Ewing/radioterapia
14.
J Allergy Clin Immunol ; 130(3): 735-742.e6, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22621957

RESUMO

BACKGROUND: Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with immunodeficiency syndrome (VODI), which is characterized by hypogammaglobulinemia, T-cell dysfunction, and a high frequency of hepatic veno-occlusive disease. OBJECTIVES: We sought to further characterize the clinical features, B-lineage cellular immunologic findings, and molecular pathogenesis of this disorder in 9 patients with new diagnoses, including 4 novel mutations from families of Italian, Hispanic, and Arabic ethnic origin. METHODS: Methods used include clinical review; Sanger DNA sequencing of the SP110 gene; determination of transfected mutant protein function by using immunofluorescent studies in Hep-2 cells; quantitation of B-cell subsets by means of flow cytometry; assessments of B-cell function after stimulation with CD40 ligand, IL-21, or both; and differential gene expression array studies of EBV-transformed B cells. RESULTS: We confirm the major diagnostic criteria and the clinical utility of SP110 mutation testing for the diagnosis of VODI. Analysis of 4 new alleles confirms that VODI is caused by reduced functional SP110 protein levels. Detailed B-cell immunophenotyping demonstrated that Sp110 deficiency compromises the ability of human B cells to respond to T cell-dependent stimuli and differentiate into immunoglobulin-secreting cells in vitro. Expression microarray studies have identified pathways involved in B-lymphocyte differentiation and macrophage function. CONCLUSION: These studies show that a range of mutations in SP110 that cause decreased SP110 protein levels and impaired late B-cell differentiation cause VODI and that the condition is not restricted to the Lebanese population.


Assuntos
Hepatopatia Veno-Oclusiva/genética , Síndromes de Imunodeficiência/genética , Proteínas Nucleares/genética , Adulto , Linfócitos B/citologia , Linfócitos B/imunologia , Criança , Pré-Escolar , Hepatopatia Veno-Oclusiva/tratamento farmacológico , Hepatopatia Veno-Oclusiva/imunologia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/tratamento farmacológico , Síndromes de Imunodeficiência/imunologia , Imunofenotipagem , Lactente , Antígenos de Histocompatibilidade Menor , Mutação , Proteínas Nucleares/análise
15.
Ital J Pediatr ; 37: 50, 2011 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-22014148

RESUMO

Castleman's disease (CD) is a rare, localized or generalized, lymphoproliferative disorder with a frequent mediastinal location, but possible in any lymph node or extra nodal site. It usually appears in young adults whilst it rarely occurs in childhood. There are only about 100 pediatric cases published, five of them in Italy. We report 3 cases of localized Castleman's disease, investigated in our Department in a 3 years period and reviewed the literature.


Assuntos
Hiperplasia do Linfonodo Gigante/diagnóstico por imagem , Hiperplasia do Linfonodo Gigante/patologia , Adolescente , Axila/patologia , Hiperplasia do Linfonodo Gigante/radioterapia , Hiperplasia do Linfonodo Gigante/cirurgia , Pré-Escolar , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Masculino , Mediastino/diagnóstico por imagem , Mediastino/patologia , Pescoço/patologia , Radiografia , Ombro/patologia , Resultado do Tratamento
16.
Pediatr Hematol Oncol ; 28(3): 237-43, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21271778

RESUMO

Hepatopathy-thrombocytopenia syndrome (HTS) is a severe complication very similar to vein occlusive disease (VOD), also known as hepatic sinusoidal obstructive syndrome (SOS), characterized by fever, hepatopathy (hepatomegaly with abnormal liver function tests), ascites, weight gain, jaundice, and thrombocytopenia (platelet count less than 25 × 10(3)/µL). It has been generally observed in patients with Wilms tumor, and is commonly associated to administration of actinomycin D. We report three children with Wilms tumor, with severe HTS/SOS, but had a different outcome, in spite of vigorous supportive therapy.


Assuntos
Doença Hepática Induzida por Substâncias e Drogas , Dactinomicina/efeitos adversos , Neoplasias Renais/tratamento farmacológico , Trombocitopenia/induzido quimicamente , Tumor de Wilms/tratamento farmacológico , Antibióticos Antineoplásicos/efeitos adversos , Feminino , Humanos , Lactente , Masculino , Literatura de Revisão como Assunto , Síndrome
17.
Indian J Pediatr ; 77(10): 1147-9, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20872097

RESUMO

An association between nephrotic syndrome and extrarenal neoplasia was described for the first time in 1922. Since then a large number of cases have been published, few of them describing the link between Hodgkin disease (HD) and nephrotic syndrome (NS). It shows that the incidence of nephrotic syndrome in Hodgkin lymphoma is less than 1%. Till date, to the best of author's knowledge, there are about 50 pediatric cases published, no one among Italian children. In the present paper, the authors report 2 cases observed in their department in the 7 yrs period.


Assuntos
Doença de Hodgkin/epidemiologia , Síndrome Nefrótica/epidemiologia , Síndromes Paraneoplásicas/epidemiologia , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Comorbidade , Ciclofosfamida/uso terapêutico , Feminino , Doença de Hodgkin/tratamento farmacológico , Humanos , Prednisona/uso terapêutico , Procarbazina/uso terapêutico , Vincristina/uso terapêutico
18.
Ital J Pediatr ; 36: 41, 2010 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-20504362

RESUMO

Hepatic hemangioma, adenoma and focal nodular hyperplasia are the most frequent benign lesions of the liver, but they are all infrequent among pediatric population. The reports of focal nodular hyperplasia in children have recently increased in number, with many cases associated to drug intake, particularly to chemotherapy. We here describe, to our knowledge, the first case of focal nodular hyperplasia in association with diabetes mellitus in childhood.


Assuntos
Diabetes Mellitus Tipo 1/complicações , Hiperplasia Nodular Focal do Fígado/complicações , Biópsia , Criança , Diagnóstico Diferencial , Hiperplasia Nodular Focal do Fígado/diagnóstico , Hiperplasia Nodular Focal do Fígado/cirurgia , Seguimentos , Hepatectomia/métodos , Humanos , Masculino , Tomografia Computadorizada por Raios X
19.
Mol Immunol ; 46(10): 1935-41, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19410294

RESUMO

Chronic Granulomatous Disease (CGD) is a rare inherited disorder in which phagocytes fail to produce antimicrobial superoxide because NADPH oxidase activity is absent. In about 65% of the cases, the disease is due to mutations affecting the X-linked CYBB gene, encoding the gp91(phox) subunit of NADPH oxidase. We investigated 34 CGD male patients by DHPLC and direct sequencing. A mutation was found in the CYBB gene of 33 patients and 9 of these were novel: one non-sense mutation (c.1123 G>T), three missense mutations (c.58G>A; c.1076 G>C; c.1357 T>A), two splice site mutations (c.141+5G>T; c.142-1G>A), one duplication (c.42_45dupCATT), one deletion (c.184delT), and one rare deletion of two non-contiguous nucleotides (c.1287delT+c.1290delC). One patient had the most frequent GT homozygous deletion in exon2 of the NCF-1 gene encoding the p47(phox) subunit of NADPH oxidase. The carrier analysis was performed in 23 patients' mothers and 16 female relatives through molecular and FISH studies. No clear correlation between the severity of clinical symptoms and the type of mutation could be demonstrated. This study further supports the great heterogeneity of the disease and the notion that genetic analysis is a critical step in obtaining a definitive diagnosis for CGD.


Assuntos
Grupo com Ancestrais do Continente Europeu/genética , Doença Granulomatosa Crônica/enzimologia , Doença Granulomatosa Crônica/genética , Glicoproteínas de Membrana/genética , Mutação/genética , NADPH Oxidases/genética , Adolescente , Adulto , Linhagem Celular , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Genótipo , Doença Granulomatosa Crônica/epidemiologia , Humanos , Incidência , Lactente , Recém-Nascido , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , NADPH Oxidase 2
20.
Pediatr Hematol Oncol ; 26(3): 129-35, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19382034

RESUMO

Hypereosinophilic syndrome (HES) represents a heterogeneous group of diseases, some of which are being clarified by recent advances in molecular genetics. It is very rare in children. Uncertainties in classification and lack of prospective studies make therapeutic decisions difficult. The authors report two cases of HES in which steroid therapy was effective.


Assuntos
Síndrome Hipereosinofílica/diagnóstico , Síndrome Hipereosinofílica/tratamento farmacológico , Exame de Medula Óssea , Criança , Análise Citogenética , Humanos , Masculino , Prednisona/uso terapêutico , Esteroides/uso terapêutico , Resultado do Tratamento
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