Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined. METHODS: Through brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations. RESULTS: Ninety-six percent of patients had abnormal MRI results. The most common features were anomalies of corpus callosum (79.6% of cases), hippocampal abnormalities (77.8%), enlargement of cerebral ventricles (68.5%), and white matter abnormalities (reduction of thickness 40.7%, localized signal alterations 22.2%). Other consistent findings were large basal ganglia, cortical, and cerebellar malformations. Most features were underrepresented in the literature. We also found ZEB2 variations leading to synthesis of a defective protein to be favorable for psychomotor development and some epilepsy features but also associated with corpus callosum agenesis. CONCLUSION: This study delineated the spectrum of brain anomalies in MWS and provided new insights into the role of ZEB2 in neurodevelopment.Genet Med advance online publication 10 November 2016.

Nutritional assessment and serum zinc and copper concentration among children with acute lymphocytic leukemia: a longitudinal study.

CONTEXT AND OBJECTIVE: When undergoing chemotherapy and/or radiotherapy, children with acute lymphocytic leukemia may present important nutritional disorders because of the gastrointestinal toxicity of most chemotherapy agents or the effects of radiation on the organism. These patients may also present changes in their serum concentrations of trace elements such as zinc and copper. The present study aimed to follow anthropometric parameters and serum levels of zinc and copper in a group of children under treatment for acute lymphocytic leukemia. DESIGN AND SETTING: Longitudinal study, at the Pediatric Section of Hospital das Clínicas, Ribeirão Preto, Brazil. METHODS: Forty-five children with acute lymphocytic leukemia were studied. Anthropometric parameters such as weight and height and the daily intakes and serum levels of copper and zinc were recorded at diagnosis and during the treatment. RESULTS: During the initial phase of the treatment, there was an increase in energy intake accompanied by weight gain. However, during the later phases of treatment there was a reduction in energy intake with accompanying weight loss. Decreased growth rate during treatment was more pronounced in children with high-risk acute lymphocytic leukemia, probably due to radiation therapy. Serum zinc levels remained basically unaltered during the treatment, whereas copper levels decreased dramatically with the beginning of treatment. CONCLUSIONS: The treatment given to children with acute lymphocytic leukemia has an important effect on their linear growth rate and nutritional status, and also on their serum copper levels.

Nutritional assessment and serum zinc and copper concentration among children with acute lymphocytic leukemia: a longitudinal study

CONTEXT AND OBJECTIVE: When undergoing chemotherapy and/or radiotherapy, children with acute lymphocytic leukemia may present important nutritional disorders because of the gastrointestinal toxicity of most chemotherapy agents or the effects of radiation on the organism. These patients may also present changes in their serum concentrations of trace elements such as zinc and copper. The present study aimed to follow anthropometric parameters and serum levels of zinc and copper in a group of children under treatment for acute lymphocytic leukemia. DESIGN AND SETTING: Longitudinal study, at the Pediatric Section of Hospital das Clínicas, Ribeirão Preto, Brazil. METHODS: Forty-five children with acute lymphocytic leukemia were studied. Anthropometric parameters such as weight and height and the daily intakes and serum levels of copper and zinc were recorded at diagnosis and during the treatment. RESULTS: During the initial phase of the treatment, there was an increase in energy intake accompanied by weight gain. However, during the later phases of treatment there was a reduction in energy intake with accompanying weight loss. Decreased growth rate during treatment was more pronounced in children with high-risk acute lymphocytic leukemia, probably due to radiation therapy. Serum zinc levels remained basically unaltered during the treatment, whereas copper levels decreased dramatically with the beginning of treatment. CONCLUSIONS: The treatment given to children with acute lymphocytic leukemia has an important effect on their linear growth rate and nutritional status, and also on their serum copper levels.

CONTEXTO E OBJETIVO: Crianças portadoras de leucemia linfóide aguda quando em tratamento quimioterápico e/ou radioterápico podem apresentar comprometimento do estado nutricional devido aos efeitos tóxicos a nível gastrointestinal dos agentes quimioterápicos ou aos efeitos da radioterapia sobre o organismo. Esses pacientes também podem apresentar alterações nas concentrações séricas de zinco e cobre. O objetivo foi acompanhar os parâmetros antropométricos e os níveis séricos de zinco e cobre de crianças em tratamento para leucemia linfóide aguda. TIPO DE ESTUDO E LOCAL: Estudo longitudinal, realizado no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto, São Paulo, Brasil, que envolveu 45 crianças do Serviço de Oncologia pediátrica, portadoras de leucemia linfóide aguda. MÉTODOS: Medidas antropométricas como peso e altura, medidas de consumo alimentar, assim como níveis séricos de zinco e cobre foram avaliados ao diagnóstico e durante o tratamento. RESULTADOS: No início do tratamento, houve aumento na ingestão calórica, acompanhada de ganho de peso, no entanto, nas fases seguintes ao tratamento houve redução na ingestão alimentar, resultando em perda de peso. Diminuição na velocidade de crescimento foi notada nas crianças com leucemia linfóide aguda de alto risco que foram submetidas a radioterapia. Os níveis séricos de zinco não sofreram alterações durante o tratamento, já os níveis séricos de cobre tiveram importante diminuição em relação ao início do tratamento. CONCLUSÕES: Pudemos observar alterações no estado nutricional, assim como alterações nas concentrações séricas de micronutrientes durante o tratamento para leucemia linfóide aguda.

Chromosomal imbalances detected in primary bone tumors by comparative genomic hybridization and interphase fluorescence in situ hybridization

We applied a combination of comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), to characterize the genetic aberrations in three osteosarcomas (OS) and one Ewing's sarcoma. CGH identified recurrent chromosomal losses at 10p14-pter and gains at 8q22.3-24.1 in OS. Interphase FISH allowed to confirm 8q gain in two cases. A high amplification level of 11q12-qter was detected in one OS. The Ewing's sarcoma showed gain at 1p32-36.1 as the sole chromosome alteration. These studies demonstrate the value of molecular cytogenetic methods in the characterization of recurrent genomic alterations in bone tumor tissue

Tumores testiculares e paratesticulares na infância / Testicular and paratesticular tumors in chilhood

Este estudo visa apresentar os dados referentes à idade, manifestação clínica, diagnóstico histopatológico e evolução de pacientes pediátricos portadores de neoplasia testicular e paratesticular tratados no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto. Procedeu-se a análise retrospectiva dos prontuários médicos de pacientes, com idade até 18 anos, portadores de neoplasia testicular primária e/ou paratesticular diagnosticados no período compreendido entre janeiro de 1984 a agosto de 2000. Foram atendidos 17 pacientes com idade entre 3 meses e 17 anos (mediana = 3 anos). O acometimento da gônada direita foi semelhante ao da esquerda (n=8 para cada lado), com 1 paciente apresentando tumor bilateral. A manifestação clínica mais frequente foi a de massa escrotal indolor. Nos tumores testiculares houve predomínio das neoplasia de células germinativas (n = 11), e 2 tumores de células de Leydig. Todos os tumores extratesticulares eram rabdomiossarcomas. Apesar da baixa incidência de neoplasia testicular e paratesticular na infância, esse diagnóstico deve ser considerado nos pacientes com massa escrotal indolor.

Preservação da fertilidade em mulheres submetidas à quimioterapia / Preservation of female fertility after chemotherapy

Com o aumento na sobrevida das pacientes submetidas a quimioterapia, as repercussões a longo prazo tornam-se mais preocupantes, pois, dependendo do tipo, da dose e da idade da paciente, podem levar a um dano gonadal, muitas vezes irreversível. Na tentativa de se preservar a fertilidade destas pacientes têm sido aventadas drogas supressoras do eixo hipotálamo-hipófise-ovariano, técnicas de reprodução assistida e de criopreservação de embriões, oócitos e tecido ovariano. O uso de contraceptivos orais e de inibidores de apoptose não tem se demonstrado eficaz. Os análogos do GnRH apresentam efeito quimioprotetor controverso, embora os resultados pareçam promissores. O congelamento de embriões já é uma opção bastante viável, com taxas de gestação razoáveis, porém é indicado para casos selecionados. O congelamento de oócitos ainda apresenta algumas limitações com baixas taxas de gestação. O congelamento de tecido ovariano é o que atualmente oferece maiores dificuldades, principalmente quanto à técnica de reimplante, devido ao risco para isquemia; porém, a longo prazo parece bastante promissor. Se for eficaz, o congelamento de tecido ovariano poderá ser o método de escolha na terapia coodjuvante destas pacientes