RESUMO
A rare cause of clitoral hypertrophy in a child is neurofibromatosis type 1 (NF1). Although evaluation, including karyotype and hormonal studies, is necessary to exclude ambiguous genitalia, the diagnosis of neurofibromatosis as a possible cause of clitoromegaly may help avoid lengthy and sometimes invasive interventions.
RESUMO
BACKGROUND: We aimed to investigate whether the presence of mannose binding lectin (MBL2), ficolin 2 (FCN2) polymorphisms or the combined deficiency significantly influence the risk and subsequently the frequency of chemotherapy-induced bacterial infections in children with B acute lymphoblastic leukemia (B-ALL). PROCEDURE: MBL2 polymorphisms for exon 1 and FCN2 polymorphisms for promoter regions -986, -602, -557, -64, -4 and exon 8 regions +6,359, +6,424 were determined in children with B-ALL. FCN2 haplotype was determined by gene sequencing. Number and duration of FN episodes as well as number of bacterial infections were recorded during induction chemotherapy. RESULTS: Forty-four children with B-ALL (median age 4.3 years, 65.9% males) suffered from 142 FN episodes and 92 bacterial infections (40.2% Gram positive and 59.8% Gram negative). MBL2 low-risk genotype was found in 59.1%, medium-risk in 31.8% and high-risk in 9%. FCN2 low-risk haplotypes were detected in 38.2%, medium-risk in 44.1% and high-risk in 17.6%. MBL2 genotype and FCN2 haplotype were not associated with increased frequency of FN episodes. MBL2 medium/high-risk genotype and FCN2 medium/high-risk haplotype were associated with prolonged duration of FN (P = 0.007 and P = 0.001, respectively) and increased number of bacterial infections (P = 0.001 and P = 0.002, respectively). The combined MBL2/FCN2 medium/high-risk genotype was associated with an increased number of bacterial infections (P = 0.001). CONCLUSIONS: MBL2 and FCN2 single or combined deficiencies are associated with increased duration of FN episodes as well as increased number of bacterial infections in children with B-ALL suggesting a prognostic role of these genes.
Assuntos
Infecções Bacterianas/genética , Neutropenia Febril/genética , Lectinas/fisiologia , Lectina de Ligação a Manose/fisiologia , Polimorfismo Genético , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Infecções Bacterianas/etiologia , Criança , Pré-Escolar , Códon/genética , Éxons/genética , Neutropenia Febril/induzido quimicamente , Feminino , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Imunidade Inata , Hospedeiro Imunocomprometido , Lactente , Lectinas/deficiência , Lectinas/genética , Masculino , Lectina de Ligação a Manose/deficiência , Lectina de Ligação a Manose/genética , Lectina de Ligação a Manose/imunologia , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/imunologia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/complicações , Risco , FicolinasRESUMO
A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level.
Assuntos
Encefalopatias Metabólicas Congênitas/diagnóstico , Leucocitose/etiologia , Púrpura/etiologia , Trombocitose/etiologia , Alelos , Atrofia , Encéfalo/patologia , Encefalopatias Metabólicas Congênitas/genética , Deleção Cromossômica , Análise Mutacional de DNA , Diagnóstico Diferencial , Éxons/genética , Evolução Fatal , Humanos , Interpretação de Imagem Assistida por Computador , Lactente , Imageamento por Ressonância Magnética , Masculino , Malonatos/urina , Proteínas Mitocondriais/genética , Proteínas de Transporte Nucleocitoplasmático/genética , Púrpura/diagnóstico , Púrpura/genéticaRESUMO
Primary immune thrombocytopenia (ITP) is the commonest acquired cause of bleeding in childhood. The aim of the present study was to evaluate the role of FcγRIIa and FcγRIIIa polymorphisms in the pathogenesis and therapeutic result of childhood ITP. The genotypic frequencies for two Fcγ receptor single-nucleotide polymorphisms, FcγRIIa-131 arginine (R) versus histidine (H) and FcγRIIIa-158 valine (V) versus phenylalanine (F) were examined in 53 children diagnosed with ITP. The genotype frequencies were compared with those of 45 healthy controls. The association between the above frequencies and disease natural course as well as therapeutic result following intravenous immunoglobulin (IVIG) administration was investigated. FcγRIIIa-158V was significantly overrepresented in children with ITP versus controls (P = 0.029), whereas no statistically significant difference was noted in FcγRIIa polymorphism distribution. No statistically significant difference was noted in the above genotype frequencies' distribution between children with newly diagnosed and chronic ITP, as well as with regards to the therapeutic result following IVIG administration. High-affinity FcγRIIIa variant (158 V) is possibly implicated in disease susceptibility, but neither of the two Fcγ receptor single-nucleotide polymorphisms seem to have any impact on chronicity or therapeutic effect of IVIG.
Assuntos
Polimorfismo de Nucleotídeo Único , Púrpura Trombocitopênica Idiopática/genética , Receptores de IgG/genética , Adolescente , Alelos , Criança , Pré-Escolar , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Grécia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Lactente , Masculino , Púrpura Trombocitopênica Idiopática/terapia , Receptores de IgG/fisiologia , Resultado do TratamentoRESUMO
We report our institutional experience of the management of 2 cases of rare non-Wilms' tumors; a rhabdoid tumor in a 17-month old boy and a clear cell sarcoma in a 5-year old girl. The two patients were treated with ifosfamide/carboplatin/etoposide (ICE) alternating with vincristine/doxorubicin/cyclophosphamide (VDC) and cyclophosphamide/etoposide (CE) alternating with vincristine/doxorubicin/cyclophosphamide (VDC) and radiotherapy, respectively. Both patients showed full response with no significant adverse events. At 2-year follow up, they are disease and relapse free. Although contemporary treatment regimens are very promising, multicenter collaborative studies are needed in order to define a standard treatment for non-Wilms' tumors.
RESUMO
BACKGROUND: We conducted a study to evaluate the efficacy of intravenous (IV) anti-D against IV immunoglobulin (IVIG) in newly diagnosed immune thrombocytopenia (ITP) in children and to identify the clinical characteristics of the children most likely to benefit from one or the other treatment. PROCEDURE: Children (6 mo to 14 y) with newly diagnosed ITP and a platelet count <20,000/µL were treated either with a single bolus dose of 50 µg/kg IV anti-D or with 0.8 to 1 g/kg IVIG in a randomized manner. RESULTS: Twenty-five patients, mean age of 6.8 years, were treated either with IV anti-D (n=10) or with IVIG (n=15). Both drugs were equally efficient in raising the platelet count above 20,000/µL at 24 hours posttreatment. Children who presented with bleeding stage 1 or 2 (no mucosal bleeding) responded better to IVIG treatment, in terms of an increase in platelet count at 24 hours posttreatment (P=0.04). Hemoglobin drop was greater in the anti-D group (P=0.002). CONCLUSIONS: A single bolus dose of 50 µg/kg of IV anti-D is a safe and effective first-line treatment in newly diagnosed ITP in childhood and mucosal bleeding is a poor prognostic factor for treatment with IVIG.
Assuntos
Imunoglobulinas Intravenosas/administração & dosagem , Isoanticorpos/administração & dosagem , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , Púrpura Trombocitopênica Idiopática/imunologia , Adolescente , Criança , Pré-Escolar , Relação Dose-Resposta Imunológica , Feminino , Hemorragia/imunologia , Hemorragia/prevenção & controle , Humanos , Imunoglobulinas Intravenosas/efeitos adversos , Lactente , Isoanticorpos/efeitos adversos , Masculino , Contagem de Plaquetas , Estudos Prospectivos , Pulsoterapia , Púrpura Trombocitopênica Idiopática/diagnóstico , Imunoglobulina rho(D) , Resultado do TratamentoRESUMO
BACKGROUND: As of late, a number of studies have focused on the association of the gene for methyletetrahydrofolate reductase (MTHFR) with risk for acute lymphoblastic leukemia (ALL) in children and in adults, as well as with response to chemotherapy. The degree of this association may vary according to the ethnic background and geographic localization of the population under study, or the phase of treatment when response to chemotherapy is concerned. PROCEDURE: We have analyzed the MTHFR C677T polymorphism in 52 patients and 88 control individuals, all ethnic Greek residents of northern Greece, and examined the association of this polymorphism with (a) susceptibility to childhood ALL and (b) the distribution of average plasma alanine aminotransferase (ALT) levels, white blood cell counts (WBC), and hemoglobin levels (Hb) during the induction and consolidation phases of treatment. RESULTS AND CONCLUSIONS: We were able to detect a statistically significant protective effect, with respect to ALL, associated with carriage of the MTHFR 677T allele [OR = 0.387 (95% CI = 0.193-0.776)]. In addition, we observed a general tendency towards lower values in all three parameters studied, associated with the MTHFR 677CC genotype, which was more evident in the transition from the induction to the consolidation phase, indicating that MTHFR genotyping may be of prognostic value in the early phase of treatment for childhood ALL, in our population.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/farmacologia , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adolescente , Alanina Transaminase/sangue , Alanina Transaminase/efeitos dos fármacos , Protocolos de Quimioterapia Combinada Antineoplásica/farmacocinética , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Frequência do Gene , Genótipo , Grécia/epidemiologia , Humanos , Lactente , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/etnologia , Estudos RetrospectivosRESUMO
Excessive production of tumor necrosis factor alpha (TNFalpha) may influence the risk and/or progression of hematologic malignancies and has been associated with febrile episodes at diagnosis. We have examined the putative association of the C-850T polymorphism of the human TNFalpha gene with childhood acute lymphoblastic leukemia (ALL) and with clinical and laboratory findings at diagnosis, in 58 childhood ALL patients from northern Greece. No statistically significant associations have emerged between this polymorphism and either the risk for childhood ALL or presence of fever, anemia, leukocytosis and leukopenia at diagnosis, in this study.