Doença granulomatosa crônica: características clínicas, seguimento e terapêutica de cinco pacientes pediátricos / Chronic granulomatous disease: clinical characteristics, follow-up, and therapy of 5 pediatric patients

Introdução: A doença granulomatosa crônica (DGC) é caracterizada por um defeito na capacidade microbicida das células fagocíticas (monócitos e neutrófilos), com alta mortalidade se não diagnosticada precocemente. Os pacientes apresentam infecções recorrentes ou graves, suscetibilidade a granulomas em órgãos profundos, doenças autoimunes e doença inflamatória intestinal. Objetivo e Método: Relato de aspectos clínicos e do tratamento de cinco pacientes com doença granulomatosa crônica. Resultados: Cinco pacientes, três meninos, medianas de idade no início dos sintomas e diagnóstico de 8 meses e 48 meses, respectivamente, foram estudados por um período de 10 anos. Pneumonia (5/5) e doença micobacteriana (3/5) foram as manifestações iniciais mais comuns. Alterações pulmonares foram observadas em todos os casos. Mutações nos genes CYBB e NCF1 foram identificadas em três casos. Antibioticoprofilaxia foi instituída em todos os pacientes e três foram submetidos ao transplante de células tronco-hematopoiéticas (TCH), aos 7, 18 e 19 anos e com sobrevida atual entre 4 a 5 anos. Conclusão: O monitoramento cuidadoso de infecções graves com tratamento imediato foi crucial para a sobrevivência. O TCH, mesmo ao final da adolescência, promoveu a cura da DGC em três pacientes.

Introduction: Chronic granulomatous disease (CGD) is characterized by a defective microbicidal capacity of phagocytic cells (monocytes and neutrophils) with high mortality if not early diagnosed. Patients have recurrent or severe infections and are susceptible to granulomas in visceral organs, autoimmune diseases, and inflammatory bowel diseases. Objective and Method: To report the clinical features and treatment of 5 patients with CGD. Results: Five patients, 3 boys, with median ages at symptom onset and diagnosis of 8 months and 48 months, respectively, were followed for 10 years. Pneumonia (5/5) and mycobacterial disease (3/5) were the most common initial manifestations. Pulmonary changes were observed in all cases. Mutations in the CYBB and NCF1 genes were identified in 3 cases. All patients received antibiotic prophylaxis. Three patients underwent a hematopoietic stem cell transplant (HSCT) at 7, 18, and 19 years, with current survival of 4 to 5 years. Conclusion: Careful monitoring for severe infection with prompt treatment was crucial for survival. Even though HSCT was performed in late adolescence, it promoted the cure of CGD in 3 patients.

IL17A and IL17RA gene polymorphisms in Fanconi anemia.

Fanconi anemia is a rare autosomal recessive disease. In this disease, cytokine pathways can induce the bone marrow failure that is observed in individuals with Fanconi anemia. Interleukin IL-17 exhibits a protective effect in organisms because it induces neutrophil recruitment and shows a pathological role in several models of autoimmune diseases, periodontal disease, cancer, allograft rejection, and graft versus host disease. Polymorphisms in the IL17A and IL17RA genes were evaluated from DNA in saliva, comparing individuals with or without Fanconi anemia, using models of genotypic transmission (additive, dominant, and recessive). Polymorphisms in the IL17A and IL17RA genes (rs2241044 [C allele], rs879577 [C allele], rs9606615 [T allele], and rs2241043 [C allele]) were risk factors for developing Fanconi anemia. We also performed an analysis of gene markers with clinical variables in the Fanconi group. Polymorphisms in the IL17A gene (rs3819025 [A allele] and rs2275913 [G allele], respectively) were associated with an age of less than 20 years (p = 0.026; RP 0.65) and the female sex (p = 0.043; RP 0.88). The IL17RA gene was also associated with age and the presence of leukoplakia (a potentially malignant oral disorder). An age of less than 20 years was associated with rs917864 (T allele; p = 0.036; RP 0.67). The presence of leukoplakia was associated with rs17606615 (T allele; p = 0.042; RP 0.47). To our knowledge, this is the first study that associates IL17A and IL17RA gene polymorphisms with Fanconi anemia and examines rs2241044 polymorphisms in scientific literature thus far.

IL17A and IL17RA gene polymorphisms in Fanconi anemia

Abstract Fanconi anemia is a rare autosomal recessive disease. In this disease, cytokine pathways can induce the bone marrow failure that is observed in individuals with Fanconi anemia. Interleukin IL-17 exhibits a protective effect in organisms because it induces neutrophil recruitment and shows a pathological role in several models of autoimmune diseases, periodontal disease, cancer, allograft rejection, and graft versus host disease. Polymorphisms in the IL17A and IL17RA genes were evaluated from DNA in saliva, comparing individuals with or without Fanconi anemia, using models of genotypic transmission (additive, dominant, and recessive). Polymorphisms in the IL17A and IL17RA genes (rs2241044 [C allele], rs879577 [C allele], rs9606615 [T allele], and rs2241043 [C allele]) were risk factors for developing Fanconi anemia. We also performed an analysis of gene markers with clinical variables in the Fanconi group. Polymorphisms in the IL17A gene (rs3819025 [A allele] and rs2275913 [G allele], respectively) were associated with an age of less than 20 years (p = 0.026; RP 0.65) and the female sex (p = 0.043; RP 0.88). The IL17RA gene was also associated with age and the presence of leukoplakia (a potentially malignant oral disorder). An age of less than 20 years was associated with rs917864 (T allele; p = 0.036; RP 0.67). The presence of leukoplakia was associated with rs17606615 (T allele; p = 0.042; RP 0.47). To our knowledge, this is the first study that associates IL17A and IL17RA gene polymorphisms with Fanconi anemia and examines rs2241044 polymorphisms in scientific literature thus far.

Cytogenetics in Fanconi Anemia: The Importance of Follow-Up and the Search for New Biomarkers of Genomic Instability.

Fanconi Anemia (FA) is a disease characterized by genomic instability, increased sensitivity to DNA cross-linking agents, and the presence of clonal chromosomal abnormalities. This genomic instability can compromise the bone marrow (BM) and confer a high cancer risk to the patients, particularly in the development of Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML). The diagnosis of FA patients is complex and cannot be based only on clinical features at presentation. The gold standard diagnostic assay for these patients is cytogenetic analysis, revealing chromosomal breaks induced by DNA cross-linking agents. Clonal chromosome abnormalities, such as the ones involving chromosomes 1q, 3q, and 7, are also common features in FA patients and are associated with progressive BM failure and/or a pre-leukemia condition. In this review, we discuss the cytogenetic methods and their application in diagnosis, stratification of the patients into distinct prognostic groups, and the clinical follow-up of FA patients. These methods have been invaluable for the understanding of FA pathogenesis and identifying novel disease biomarkers. Additional evidence is required to determine the association of these biomarkers with prognosis and cancer risk, and their potential as druggable targets for FA therapy.

Nursing diagnosis after hematopoietic stem cell transplant due to Fanconi anemia / Diagnósticos de enfermería en trasplantados de células madre hematopoyéticas por anemia de Fanconi / Diagnósticos de enfermagem em transplantados de células-tronco hematopoéticas por anemia de Fanconi

ABSTRACT Objectives: to identify nursing diagnoses in patients who underwent hematopoietic stem-cell transplants due to Fanconi anemia, according to the NANDA-I taxonomy. Methods: exploratory study using a retrospective analysis of 85 records from patients who underwent hematopoietic stem-cell transplants due to Fanconi anemia, developed in a specialize transplant center in the South of Brazil. The results were analyzed using descriptive statistics. Results: 73 different diagnoses were found in 9 out of the 13 domains from the NANDA-I taxonomy. From these, 22 were in 50% or more of the patients investigated, and most of them are related to the domain Safety/Protection. Conclusions: it was possible to identify the nursing diagnosis in the patients who underwent hematopoietic stem cell transplants due to Fanconi anemia, contributing to design a plan for the care of these patients. The same was true for those with other syndromes of chromosomal instability that need to undergo this transplant.

RESUMEN Objetivos: identificar diagnósticos de enfermería en pacientes sometidos a trasplante de células madre hematopoyéticas por anemia de Fanconi, segundo la taxonomía NANDA-I. Métodos: estudio exploratorio mediante análisis retrospectivo de registros de 85 prontuarios de pacientes sometidos a trasplante de células madre hematopoyéticas por anemia de Fanconi, desarrollado en un centro trasplantador de referencia del Sur Brasileño. Analizados los datos utilizándose estadística descriptiva. Resultados: identificaron 73 diferentes diagnósticos en 9 de los 13 dominios de la taxonomía NANDA-I. De estos, 22 diagnósticos atingieron 50% o más de los pacientes investigados, y el mayor número está relacionado al dominio de Seguridad y Protección. Conclusiones: fue posible identificar los diagnósticos de enfermería presentes en pacientes sometidos a un trasplante de células madre hematopoyéticas por anemia de Fanconi, contribuyendo para el delineamento del plan de cuidados de esos pacientes, incluso para aquellos con otros síndromes de inestabilidad cromosómica que necesitan ser sometidos al trasplante.

RESUMO Objetivos: identificar diagnósticos de enfermagem em pacientes submetidos a transplante de células-tronco hematopoéticas por anemia de Fanconi, segundo a taxonomia da NANDA-I. Métodos: estudo exploratório mediante análise retrospectiva dos registros de 85 prontuários de pacientes submetidos a transplante de células-tronco hematopoéticas por anemia de Fanconi, desenvolvido em um centro transplantador de referência do Sul do Brasil. Analisaram-se os dados utilizando-se estatística descritiva. Resultados: identificaram-se 73 diferentes diagnósticos em 9 dos 13 domínios da taxonomia da NANDA-I. Destes, 22 diagnósticos atingiram 50% ou mais dos pacientes investigados, e o maior número está relacionado ao domínio de Segurança e Proteção. Conclusões: foi possível identificar os diagnósticos de enfermagem presentes em pacientes submetidos a um transplante de células-tronco hematopoéticas por anemia de Fanconi, contribuindo para o delineamento do plano de cuidados desses pacientes, assim como para aqueles com outras síndromes de instabilidade cromossômica que necessitam ser submetidos ao transplante.

Brazilian Nutritional Consensus in Hematopoietic Stem Cell Transplantation: children and adolescents.

The Brazilian Nutritional Consensus in Hematopoietic Stem Cell Transplantation: Children and Adolescents was developed by dietitians, physicians, and pediatric hematologists from 10 Brazilian reference centers in hematopoietic stem cell transplantation. The aim was to emphasize the importance of nutritional status and body composition during treatment, as well as the main characteristics related to patient´s nutritional assessment. This consensus is intended to improve and standardize nutrition therapy during hematopoietic stem cell transplantation. The consensus was approved by the Brazilian Society of Bone Marrow Transplantation.

Nursing diagnosis after hematopoietic stem cell transplant due to Fanconi anemia.

OBJECTIVES: to identify nursing diagnoses in patients who underwent hematopoietic stem-cell transplants due to Fanconi anemia, according to the NANDA-I taxonomy. METHODS: exploratory study using a retrospective analysis of 85 records from patients who underwent hematopoietic stem-cell transplants due to Fanconi anemia, developed in a specialize transplant center in the South of Brazil. The results were analyzed using descriptive statistics. RESULTS: 73 different diagnoses were found in 9 out of the 13 domains from the NANDA-I taxonomy. From these, 22 were in 50% or more of the patients investigated, and most of them are related to the domain Safety/Protection. CONCLUSIONS: it was possible to identify the nursing diagnosis in the patients who underwent hematopoietic stem cell transplants due to Fanconi anemia, contributing to design a plan for the care of these patients. The same was true for those with other syndromes of chromosomal instability that need to undergo this transplant.

Self-perception of periodontal health status among individuals with Fanconi anemia

ABSTRACT Introduction: Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations and bone marrow failure. One of the most common oral diseases in individuals with FA is periodontitis and adequate self-perception of periodontal status could contribute to its prevention and early detection. Aim: To compare oral health self-perception, measured by a questionnaire, with the clinical oral condition of patients with FA. Methods and Results: Fifty-six patients with FA, over 11 years of age, answered a questionnaire about dental history and self-reported oral health. Decayed, missing, and filled teeth (DMFT), Visible Plaque Index (VPI) and Gingival Bleeding Index (GBI) were measured. The median age of participants was 21 years (min 11, max 44), 31 (55%) were females and 25 (45%) males. Thirty-five (62.5%) participants rated their oral condition as satisfactory and 7 (12.5%) participants reported tooth mobility, 10 (17.9%) exposed roots and 21 (37.5%) gingival bleeding. Clinical examination detected average DMFT = 5.23, VPI = 31.36% and GBI = 33.77%. The gingival bleeding report was more frequent among individuals with higher GBI (p = 0.014). The DMFT was higher in those who had already undergone dental treatments (p = 0.031). There was an association between participants who presented dental caries and who rated their oral health as poor (p = 0.03). The question "Do your gums bleed easily?" had good accuracy in the evaluation of periodontal disease (p = 0.68). Conclusion: Oral health self-perception of individuals with FA about gingival inflammation was associated with their gingival bleeding index.

Self-perception of periodontal health status among individuals with Fanconi anemia.

INTRODUCTION: Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations and bone marrow failure. One of the most common oral diseases in individuals with FA is periodontitis and adequate self-perception of periodontal status could contribute to its prevention and early detection. AIM: To compare oral health self-perception, measured by a questionnaire, with the clinical oral condition of patients with FA. METHODS AND RESULTS: Fifty-six patients with FA, over 11 years of age, answered a questionnaire about dental history and self-reported oral health. Decayed, missing, and filled teeth (DMFT), Visible Plaque Index (VPI) and Gingival Bleeding Index (GBI) were measured. The median age of participants was 21 years (min 11, max 44), 31 (55%) were females and 25 (45%) males. Thirty-five (62.5%) participants rated their oral condition as satisfactory and 7 (12.5%) participants reported tooth mobility, 10 (17.9%) exposed roots and 21 (37.5%) gingival bleeding. Clinical examination detected average DMFT = 5.23, VPI = 31.36% and GBI = 33.77%. The gingival bleeding report was more frequent among individuals with higher GBI (p =  0.014). The DMFT was higher in those who had already undergone dental treatments (p =  0.031). There was an association between participants who presented dental caries and who rated their oral health as poor (p =  0.03). The question "Do your gums bleed easily?" had good accuracy in the evaluation of periodontal disease (p =  0.68). CONCLUSION: Oral health self-perception of individuals with FA about gingival inflammation was associated with their gingival bleeding index.

A case series of medication-related fibrovascular hyperplasia following hematopoietic stem cell transplantation for Fanconi anemia.

Systemic medications categorized as diphenylhydantoin, calcineurin inhibitor and calcium channel blocker may have effects on the oral cavity by modifying the inflammatory and immune response and causing undesired tissue proliferative reactions. Calcineurin inhibitors are medications commonly used for long periods in patients undergoing allogeneic hematopoietic stem cell transplant (HSCT) and solid organ transplantation. Medication-related fibrovascular hyperplasia (MRFH) is an extra gingival hyperplastic nodular growth associated with medications use. This study reports five cases of pediatric patients (6 to 12-years-old) diagnosed with Fanconi anemia (FA) after HSCT who presented similar oral mucosal lesions associated with the use of cyclosporine, phenobarbital and amlodipine. After excision of the lesions, histopathological analysis described them as pyogenic granuloma (PG). As the aetiology of the lesions manifested by the patients was associated with the use of medications, the final diagnosis was MRFH. Despite the clinical and histopathological similarity between PG and MRFH, it is fundamental to know the aetiological agent for achieving definitive diagnosis and correct management. Considering the etiologic agent (medication) and histopathological findings, it is suggested that the most appropriate term for this manifestation should be "medication-related fibrovascular hyperplasia". The correct nomenclature related to extra gingival hyperplastic lesions identified in patients on medications with potential to induce hyperplastic reactions should be adopted to facilitate scientific communication and improve the treatment.

Brazilian Nutritional Consensus in Hematopoietic Stem Cell Transplantation: children and adolescents / Consenso Brasileiro de Nutrição em Transplante de Células-Tronco Hematopoiéticas: crianças e adolescentes

ABSTRACT The Brazilian Nutritional Consensus in Hematopoietic Stem Cell Transplantation: Children and Adolescents was developed by dietitians, physicians, and pediatric hematologists from 10 Brazilian reference centers in hematopoietic stem cell transplantation. The aim was to emphasize the importance of nutritional status and body composition during treatment, as well as the main characteristics related to patient´s nutritional assessment. This consensus is intended to improve and standardize nutrition therapy during hematopoietic stem cell transplantation. The consensus was approved by the Brazilian Society of Bone Marrow Transplantation.

RESUMO O Consenso Brasileiro de Nutrição em Transplante de Células-Tronco Hematopoiéticas: crianças e adolescentes foi elaborado com a participação de nutricionistas, médicos nutrólogos e médicos hematologistas pediátricos de 10 centros brasileiros que são referência em transplante de células-tronco hematopoiéticas. O objetivo foi salientar a importância do estado nutricional e da composição corporal durante o tratamento, bem como as principais características relacionadas à avaliação nutricional do paciente. As intenções, ao se estabelecer o consenso, foram aprimorar e padronizar a terapia nutricional durante o transplante de células-tronco hematopoiéticas. O consenso foi aprovado pela Sociedade Brasileira de Transplante de Médula Óssea.

Perfil clínico de crianças submetidas a transplante de células-tronco hematopoiéticas / Perfil clínico de niños sometidos a trasplante de células madre hematopoyéticas / Clinical profile of children undergoing hematopoietic stem cell transplantation

RESUMO Objetivo identificar o perfil clínico de crianças em pós-transplante de células-tronco hematopoiéticas. Método pesquisa quantitativa, transversal, retrospectiva, em serviço transplantador do Sul/Brasil, com dados de prontuários de crianças com 12 anos incompletos, submetidas a transplante. Para análise utilizaram-se medidas de tendência central, dispersão, frequências e testes do qui-quadrado e Fisher para associar variáveis. Resultados a média de idade foi de 6,2 anos, predomínio do sexo masculino 92 (66,7%), diagnóstico Anemia de Fanconi 42 (30,4%) e transplante alogênico não aparentado 71 (51,4%). A alta hospitalar aconteceu em até 30 dias pós-transplante para 85 (61,6%) e 48 (34,8%) foram reinternadas. As perdas do cateter acometeram 11 crianças (8%) e as principais intercorrências clínicas ambulatoriais foram dor, tosse, coriza e febre. Infecção viral esteve relacionada ao transplante não aparentado e doença do enxerto contra hospedeiro. Conclusão o perfil identificado corrobora o planejamento de cuidados a esta população, contribuindo com a prática de enfermagem.

RESUMEN Objetivo identificar el perfil clínico de niños tras realización de trasplante de células madre hematopoyéticas. Método investigación cuantitativa, trasversal, retrospectiva, en servicio trasplantador de Sur/Brasil, con datos de prontuarios de niños con 12 años sin cumplir, sometidos a trasplante. Para análisis, se utilizaron medidas de tendencia central, dispersión, frecuencias y prueba chi cuadrada y Fisher a fin de asociar variables. Resultados el promedio de edad fue de 6,2 años, predominio del sexo masculino, 92 (66,7%), diagnóstico Anemia de Fanconi 42 (30,4%) y trasplante alógeno sin parentesco 71 (51,4%). El alta hospitalario ocurrió en hasta 30 días tras el trasplante para 85 (61,6%) y 48 (34,8%) se reingresaron. Las pérdidas del catéter atingieron 11 niños (8%) y las principales complicaciones clínicas ambulatorias fueron dolor, tos, secreción nasal y fiebre. Infección viral fue asociada al trasplante sin parentesco y enfermedad del injerto contra huésped. Conclusión el perfil identificado corrobora el planeamiento de cuidados a esa población, contribuyendo con la práctica de enfermería.

ABSTRACT Objective to identify the clinical profile of children in the hematopoietic stem cell post-transplant period. Method quantitative, cross-sectional, retrospective study, performed in a transplantation service of the South of Brazil, with data from the medical records of children less than 12 years of age, who had undergone transplantation. Measures of central tendency, dispersion and frequency were used for the analysis and the chi-squared and Fisher's tests to associate variables. Results the mean age was 6.2 years, males, with 92 (66.7%), the diagnosis of Fanconi anemia, with 42 (30.4%), and unrelated allogeneic transplantation, with 71 (51.4%), were predominant. Hospital discharge occurred within 30 days after transplantation for 85 (61.6%) patients and 48 (34.8%) were readmitted. Catheter failures occurred in 11 children (8.0%) and the main outpatient clinical intercurrences were pain, cough, runny nose and fever. Viral infection was associated with the unrelated transplant and graft-versus-host disease. Conclusion the profile identified corroborates the care planning for this population, contributing to the nursing practice.

Periodontal status of candidates for allogeneic hematopoietic stem cell transplantation.

PURPOSE: The aim of this study was to describe the periodontal profile of -candidates for allogeneic hematopoietic stem cell transplantation. METHODS: This cross-sectional prospective study was performed from March 2014 to March 2015. After an initial interview, eligible individuals were evaluated by the following clinical parameters: visible plaque, bleeding on probing, probing depth, and clinical attachment level at six sites per tooth, excluding third molars. RESULTS: Thirty-six candidates for allogeneic hematopoietic stem cell transplantation (HSCT) were clinically assessed. Eight (22%) patients were diagnosed with gingivitis and 21 (58%) of them with periodontitis. The gingival bleeding was statistically correlated with the percentage of sites with visible plaque (p < 0.0001; r = 0.630) and did not correlate with the number of platelets (p = 0.643, r = -0.082). CONCLUSIONS: The candidates for allogeneic HSCT studied showed a high prevalence of periodontal diseases with unmonitored local infection before transplantation.

Access to oral care before hematopoietic stem cell transplantation: understand to improve.

PURPOSE: Although the relevance of dental intervention before transplant is recognized, many patients are undergoing transplantation without receiving dental care. The objective of this study was to identify the searching profile, access, and use of dental services by candidates to hematopoietic stem cell transplantation (HSCT), and the difficulties faced by those candidates. METHODS: All candidates for an allogeneic HSCT from a bone marrow transplant unit were invited to take part in this research from March 2014 to March 2015. A questionnaire was developed consisting of five sections with questions about personal information, hematologic disease, access to dental services, and history of dental treatment, patient's preferences, and knowledge. RESULTS: One hundred and ten candidates for allogeneic HSCT participated in this study. Fifty-five participants received professional oral care in the previous year of interview. The majority of patients (64 %) went to a dentist not linked to transplant staff, and private dental service was the most visited (42 %). To visit a dentist during the previous year was statistically associated with the habit of going to a dentist outside the hospital (p < 0.001), which was statistically associated with the family income (p = 0.001). The main barriers to access to dental treatment were lack of guidance (66 %), apprehension (45 %), and lack of confidence (29 %) in an "external" dentist. CONCLUSIONS: Most of the barriers seem to be associated to lack of confidence and information among patients and professionals, as well as a lack of parameters for scheduling or referrals to dental care, especially for those with a low-socioeconomic background.

Unrelated hematopoietic stem cell transplantation in the pediatric population: single institution experience

Hematopoietic stem cell transplantation has been successfully used to treat the pediatric population with malignant and non-malignant hematological diseases. This paper reports the results up to 180 days after the procedure of all unrelated hematopoietic stem cell transplantations in pediatric patients that were performed in one institution.METHODS: A retrospective review was performed of all under 18-year-old patients who received unrelated transplantations between 1995 and 2009. Data were analyzed using the log-rank test, Cox stepwise model, Kaplan-Meier method, Fine and Gray model and Fisher's exact test.RESULTS: This study included 118 patients (46.8%) who received bone marrow and 134 (53.2%) who received umbilical cord blood transplants. Engraftment occurred in 89.47% of the patients that received bone marrow and 65.83% of those that received umbilical cord blood (p-value < 0.001). Both neutrophil and platelet engraftments were faster in the bone marrow group. Acute graft-versus-host disease occurred in 48.6% of the patients without statistically significant differences between the two groups (p-value = 0.653). Chronic graft-versus-host disease occurred in 9.2% of the patients with a higher incidence in the bone marrow group (p-value = 0.007). Relapse occurred in 24% of the 96 patients with malignant disease with 2-year cumulative incidences of 45% in the bone marrow group and 25% in the umbilical cord blood group (p-value = 0.117). Five-year overall survival was 47%, with an average survival time of 1207 days, and no significant differences between the groups (p-value = 0.4666).CONCLUSION: Despite delayed engraftment in the umbilical cord blood group, graft-versus-host disease, relapse and survival were similar in both groups...

Unrelated hematopoietic stem cell transplantation in the pediatric population: single institution experience.

OBJECTIVE: Hematopoietic stem cell transplantation has been successfully used to treat the pediatric population with malignant and non-malignant hematological diseases. This paper reports the results up to 180 days after the procedure of all unrelated hematopoietic stem cell transplantations in pediatric patients that were performed in one institution. METHODS: A retrospective review was performed of all under 18-year-old patients who received unrelated transplantations between 1995 and 2009. Data were analyzed using the log-rank test, Cox stepwise model, Kaplan-Meier method, Fine and Gray model and Fisher's exact test. RESULTS: This study included 118 patients (46.8%) who received bone marrow and 134 (53.2%) who received umbilical cord blood transplants. Engraftment occurred in 89.47% of the patients that received bone marrow and 65.83% of those that received umbilical cord blood (p-value<0.001). Both neutrophil and platelet engraftments were faster in the bone marrow group. Acute graft-versus-host disease occurred in 48.6% of the patients without statistically significant differences between the two groups (p-value=0.653). Chronic graft-versus-host disease occurred in 9.2% of the patients with a higher incidence in the bone marrow group (p-value=0.007). Relapse occurred in 24% of the 96 patients with malignant disease with 2-year cumulative incidences of 45% in the bone marrow group and 25% in the umbilical cord blood group (p-value=0.117). Five-year overall survival was 47%, with an average survival time of 1207 days, and no significant differences between the groups (p-value=0.4666). CONCLUSION: Despite delayed engraftment in the umbilical cord blood group, graft-versus-host disease, relapse and survival were similar in both groups.

Adrenoleucodistrofia ligada ao X: correlação entre o escore de Loes e parâmetros do tensor de difusão / X-linked adrenoleukodystrophy: correlation between Loes score and diffusion tensor imaging parameters

Objetivo: Avaliar a correlação dos parâmetros do tensor de difusão com o escore de Loes e se os parâmetros do tensor de difusão poderiam indicar alterações estruturais precoces. Materiais e Métodos: As medidas do tensor de difusão foram obtidas em 30 exames de 14 pacientes com adrenoleucodistrofia ligada ao X e foram correlacionadas com o escore de Loes. Um grupo controle de 28 pacientes masculinos foi avaliado para estabelecer medidas do tensor de difusão pareadas por idade. Análises estatísticas intra e interobservador foram feitas. Resultados: As medidas do tensor de difusão apresentam forte correlação com o escore de Loes segundo o coeficiente de Pearson (r), com valores de –0,86, 0,89, 0,89 e 0,84 para a fração de anisotropia e difusibilidades média, radial e axial (p < 0,01). A análise da mudança nas medidas do tensor de difusão no estágio inicial da doença indica que os valores de difusibilidades média e radial podem ajudar a predizer a progressão da doença. Conclusão: As medidas de parâmetros do tensor de difusão poderiam ser usadas como um adjunto ao escore de Loes, auxiliando no monitoramento da doença e alertando uma possível progressão do escore de Loes na faixa de interesse para decisões terapêuticas. .

Objective: The present study was aimed at evaluating the correlation between diffusion tensor imaging parameters and Loes score as well as whether those parameters could indicate early structural alterations. Materials and Methods: Diffusion tensor imaging measurements were obtained in 30 studies of 14 patients with X-linked adrenoleukodystrophy and were correlated with Loes scores. A control group including 28 male patients was created to establish agematched diffusion tensor imaging measurements. Inter- and intraobserver statistical analyses were undertaken. Results: Diffusion tensor imaging measurements presented strong Pearson correlation coefficients (r) of –0.86, 0.89, 0.89 and 0.84 for fractional anisotropy and mean, radial and axial diffusivities (p < 0.01). Analysis of changes in diffusion tensor measurements at early stage of the disease indicates that mean and radial diffusivities might be useful to predict the disease progression. Conclusion: Measurements of diffusion tensor parameters can be used as an adjunct to the Loes score, aiding in the monitoring of the disease and alerting for possible Loes score progression in the range of interest for therapeutic decisions. .

Processo de brincar da criança hospitalizada guiado pelo modelo lúdico / The play process of the hospitalized child, guided by the ludic model / Proceso de jugar del niño hospitalizado de acuerdo con el modelo lúdico

O brincar é fundamental para o desenvolvimento saudável da criança e durante a hospitalização pode configurar-se como estratégia de cuidado, desde que sua aplicação seja sistematizada e fundamentada. O objetivo do estudo é relatar o processo de brincar guiado pelo Modelo Lúdico. Os participantes foram três crianças do sexo masculino, hospitalizadas em um serviço de transplante de medula óssea, entre setembro e outubro de 2012. A coleta dos dados se deu por meio de instrumentos adaptados do Modelo Lúdico e se desenvolveu em três etapas: conhecendo a criança, cuidando e brincando e acompanhando a evolução do comportamento lúdico. As crianças foram participativas, demonstrando autonomia, prazer e manutenção do papel ocupacional. O Modelo Lúdico foi considerado importante ferramenta para nortear o cuidado integral e humanizado nesse contexto.

Playing is fundamental for the healthy development of the child, and during hospitalization can be configured as a care strategy, as long as it is applied systematically and grounded in theory. This study's objective is to report the play process guided by the Ludic Model. The participants were three male children, receiving inpatient treatment in a bone marrow transplantation service, between September and October 2012. Data collection occurred through instruments adapted from the Ludic Model, and progressed in three stages: getting to know the child, caring and playing, and accompanying the evolution of the ludic behavior. The children were participative, demonstrating autonomy, pleasure, and maintenance of the occupational role. The Ludic Model was considered an important tool for guiding the comprehensive and humanized care in this context.

El jugar es fundamental para el desarrollo saludable del niño y durante la hospitalización puede configurarse como estrategia de cuidado, desde que su aplicación sea sistematizada y fundamentada. El objetivo del estudio fue relatar el proceso de jugar de acuerdo con el Modelo Lúdico. Los participantes fueron tres niños del sexo masculino, hospitalizados en un servicio de trasplante de médula, entre septiembre y octubre de 2012. Los datos fueron obtenidos por medio de instrumentos adaptados del Modelo Lúdico y eso se desarrolló en tres etapas: conociendo el niño, cuidando y jugando y acompañando la evolución del comportamiento lúdico. Los niños fueron participativos, demostrando autonomía, placer y manutención del papel ocupacional. El Modelo Lúdico fue considerado importante herramienta para nortear el cuidado integral y humanizado en ese contexto.

Vitamin D deficiency in children and adolescents submitted to hematopoietic stem cell transplantation.

BACKGROUND: Sub-optimal levels of vitamin D have been found to be highly prevalent in all age groups, with epidemiologic studies demonstrating a link between vitamin D deficiency and disease susceptibility, such as infection and cancer, and mortality rates. In adult transplant patients, it has been suggested that the immunomodulatory properties of vitamin D may have an important role in the prevention and treatment of graft-versus-host disease. OBJECTIVE: The objective of this study was to assess serum 25-hydroxyvitamin D levels of children and adolescents submitted to allogeneic hematopoietic stem cell transplantation. METHODS: Serum 25-hydroxyvitamin D levels of 66 patients, aged 4-20 years, were assessed at three stages: before hospitalization for hematopoietic stem cell transplantation and at 30 and 180 days after hematopoietic stem cell transplantation. The control group consisted of 25 healthy children. RESULTS: At the pre-hematopoietic stem cell transplantation stage, patients had lower levels of 25-hydroxyvitamin D compared to controls (25.7 ± 12.3 ng/mL vs. 31.9 ± 9.9 ng/mL; p-value = 0.01), and a higher prevalence of 25-hydroxyvitamin D deficiency (32% vs. 8%; p-value = 0.01). Prevalence increased significantly after hematopoietic stem cell transplantation (p-value = 0.01) with half of the patients having vitamin D deficiency at 180 days after transplantation. At this stage, mean serum 25-hydroxyvitamin D levels were 20.9 ± 10.9 ng/mL, a significant decline in relation to baseline (p-value = 0.01). No correlation was found between 25-hydroxyvitamin D levels and vitamin D intake, graft-versus-host disease, corticoid use or survival rates. CONCLUSION: Low levels of 25-hydroxyvitamin D were detected even before hematopoietic stem cell transplantation and were significantly lower at 180 days after hematopoietic stem cell transplantation, thus recommending vitamin D supplementation for children and adolescents submitted to hematopoietic stem cell transplantation.

Vitamin D deficiency in children and adolescents submitted to hematopoietic stem cell transplantation

Background: Sub-optimal levels of vitamin D have been found to be highly prevalent in all age groups, with epidemiologic studies demonstrating a link between vitamin D deficiency and disease susceptibility, such as infection and cancer, and mortality rates. In adult transplant patients, it has been suggested that the immunomodulatory properties of vitamin D may have an important role in the prevention and treatment of graft-versus-host disease. Objective: The objective of this study was to assess serum 25-hydroxyvitamin D levels of children and adolescents submitted to allogeneic hematopoietic stem cell transplantation. Methods: Serum 25-hydroxyvitamin D levels of 66 patients, aged 4-20 years, were assessed at three stages: before hospitalization for hematopoietic stem cell transplantation and at 30 and 180 days after hematopoietic stem cell transplantation. The control group consisted of 25 healthy children. Results: At the pre-hematopoietic stem cell transplantation stage, patients had lower levels of 25-hydroxyvitamin D compared to controls (25.7 ± 12.3 ng/mL vs. 31.9 ± 9.9 ng/mL; p-value = 0.01), and a higher prevalence of 25-hydroxyvitamin D deficiency (32% vs. 8%; p-value = 0.01). Prevalence increased significantly after hematopoietic stem cell transplantation (p-value = 0.01) with half of the patients having vitamin D deficiency at 180 days after transplantation. At this stage, mean serum 25-hydroxyvitamin D levels were 20.9 ± 10.9 ng/mL, a significant decline in relation to baseline (p-value = 0.01). No correlation was found between 25-hydroxyvitamin D levels and vitamin D intake, graft-versus-host disease, corticoid use or survival rates...