Chronic neutropenia in childhood: experience of a tertiary center

Abstract Objective: To assess the prevalence of chronic neutropenia (CN) and the clinical profile of patients with CN aged up to 18 years, followed in the pediatric hematology, rheumatology, or immunology outpatient clinic of a tertiary medical center from May 1, 2018, to 30 April 2019. Methods: Retrospective observational study carried out by collecting data from the patient's medical charts. CN was defined as absolute neutrophil count (ANC) below 1.5 × 109/L lasting over three months. Autoimmune neutropenia (AIN) was defined by clinical criteria and an over twofold increase in ANC after glucocorticoid stimulation. AIN was considered secondary when associated with autoimmune or immunoregulatory disorders. Wilcoxon and Fisher's exact tests were used to compare variables; the significance level was 5 %. Results: A total of 1,039 patients were evaluated; 217 (20 %) presented CN. Twenty-one (2 %) had AIN, classified as primary in 57 % of the cases. The average age at the onset of symptoms was 38.6 months. During follow-up, patients had 4.2 infections on average; frequency was higher among patients with secondary AIN (p = 003). Isolated neutropenia occurred in 43 % of the patients with AIN. Neutropenia resolved in eight (38 %) of the 21 patients with AIN within 19.6 months on average. Eight patients with secondary AIN met the criteria for Inborn Errors of Immunity. Conclusion: AIN prevalence was 2 %. Most cases were first evaluated by a pediatric immunologist or rheumatologist rather than a pediatric hematologist. This study highlights the need for a multidisciplinary approach involving a pediatric immunologist, rheumatologist, and hematologist.

Chronic neutropenia in childhood: experience of a tertiary center.

OBJECTIVE: To assess the prevalence of chronic neutropenia (CN) and the clinical profile of patients with CN aged up to 18 years, followed in the pediatric hematology, rheumatology, or immunology outpatient clinic of a tertiary medical center from May 1, 2018, to 30 April 2019. METHODS: Retrospective observational study carried out by collecting data from the patient's medical charts. CN was defined as absolute neutrophil count (ANC) below 1.5 × 109/L lasting over three months. Autoimmune neutropenia (AIN) was defined by clinical criteria and an over twofold increase in ANC after glucocorticoid stimulation. AIN was considered secondary when associated with autoimmune or immunoregulatory disorders. Wilcoxon and Fisher's exact tests were used to compare variables; the significance level was 5 %. RESULTS: A total of 1,039 patients were evaluated; 217 (20 %) presented CN. Twenty-one (2 %) had AIN, classified as primary in 57 % of the cases. The average age at the onset of symptoms was 38.6 months. During follow-up, patients had 4.2 infections on average; frequency was higher among patients with secondary AIN (p = 003). Isolated neutropenia occurred in 43 % of the patients with AIN. Neutropenia resolved in eight (38 %) of the 21 patients with AIN within 19.6 months on average. Eight patients with secondary AIN met the criteria for Inborn Errors of Immunity. CONCLUSION: AIN prevalence was 2 %. Most cases were first evaluated by a pediatric immunologist or rheumatologist rather than a pediatric hematologist. This study highlights the need for a multidisciplinary approach involving a pediatric immunologist, rheumatologist, and hematologist.

Accurate determination of energy needs in children and adolescents with cancer.

Studies on children with cancer have suggested that energy expenditure may indeed be greater than predicted for healthy children. Nutritional assessment is important for intervention and for the prevention of complications associated with malnutrition. The present study aimed to describe the nutritional status, energy expenditure, and substrate utilization of children and adolescents with cancer compared to healthy children matched for age, sex, and body mass index. Subjects were evaluated by anthropometry, food intake pattern, and body composition analysis. Energy expenditure and substrate oxidation were measured by indirect calorimetry. Indirect calorimetry data, energy, and macronutrient intake, anthropometry, and body composition parameters showed no significant differences between groups. There was no evidence of increased energy expenditure or of a change in substrate utilization in children with cancer compared to the healthy group. The data regarding usual food consumption showed no significant differences between groups.

Analysis of the p53 gene by PCR-SSCP in ten cases of WilmsÆ tumor

CONTEXT: Mutations of the p53 tumor suppressor gene are the most frequent alterations observed in human neoplasias affecting adults. In pediatric oncology, however, they have seldom been identified. WilmsÆ tumor is a renal neoplasia commonly occurring in children and is associated with mutations of the WT1 gene. The correlation between WilmsÆ tumor and alterations of the p53 gene has not been well established, with a low frequency of mutations having been reported in this type of tumor. Mutation may be associated with advanced stage disease and unfavorable histology. OBJECTIVE: To screen for mutations of the p53 gene by the PCR-SSCP method and DNA sequencing in cases of WilmsÆ tumor sug-gestive of mutation. DESIGN: Case Report. CASE REPORT: Evaluations of exons 5-9 of the p53 gene in DNA samples extracted by PCR-SSCP from 10 WilmsÆ tumors in children at different stages, and DNA sequencing. Changes in SSCP analy-sis were observed in exon 8 in two samples. The probable muta-tions were not confirmed by DNA sequencing. The absence of point mutations in p53 gene observed in the 10 samples of WilmsÆ tumor studied agrees with literature data, with DNA sequencing being of fundamental importance for the confirmation of possible mutations

Estudo citogenético de leucemia näo-linfóide aguda da infância: análise de doze casos / Cytogenetic study of acute nonlymphoid childhood leukemia. Analysis of 12 cases

Os autores analisam citigeneticamente doze caos de leucemia näo-linfóide aguda da infância (LNLA), objetivando estabelecer correlaçöes entre alteraçöes cromossômicas, evoluçäo e progressäo da doença. 91,66 por cento dos casos exibiam anomalias. Dois pacientes com classificaçäo FAB M1 e M2 apresentaram translocaçäo t(8;21), associada à monossomia do X e à trissomia desse cromossomo, mais alteraçäo do 7, respectivamente. Ambos faleceram, o primeiro após transplante de medula óssea com recidiva da doença e o segundo com septicemia, confirmando o caráter agerssivo dessa translocaçäo quando associada a outras alteraçöes cromossômicas. Em um dos casos a presença de alteraçöes cromossômicas complexas foi fundamental p[ara a confirmaçäo diagnóstica de eritroleucemia. Cinco pacientes exibiram alteraçöes cromossômicas primárias e seis do tipo secundário. No grupo com alteraçöes primárias se encontram os três pacientes vivos livres da doença. No grupo com alteraçöes secundárias, todos foram a óbito, dois por recidiva, dois por resistência à doença e dois por septicemia, após entrar em remissäo...