Skeletal involvement in Gaucher disease: extent of bone disease, splenic volume, and quality of life.

OBJECTIVE: To investigate the correlations among the extent of bone involvement, splenic volume, and quality of life in patients with Gaucher disease. MATERIALS AND METHODS: This was a descriptive, prospective cross-sectional study of 18 patients with Gaucher disease who underwent 3-T magnetic resonance imaging of both femurs and the lumbar spine. Semiquantitative analyses were performed on the basis of the bone marrow burden (BMB) score. We looked for linear relationships among the variables splenic volume, quality of life score, and BMB score. RESULTS: We identified a linear relationship between the BMB scores and splenic volume. The quality of life score showed no statistically significant relationship with splenic volume or the BMB score. CONCLUSION: The linear relationship between the BMB score and the splenic volume indicates that the extent of bone disease is greater in individuals with splenomegaly. No correlation was found between the BMB and quality of life scores, illustrating the insidious and silent progression of Gaucher disease.

OBJETIVO: Investigar a correlação entre a extensão do envolvimento ósseo, o volume esplênico e a qualidade de vida em pacientes com doença de Gaucher. MATERIAIS E MÉTODOS: Estudo descritivo, prospectivo e transversal de 18 pacientes com doença de Gaucher submetidos a ressonância magnética de 3-T de ambos os fêmures e da coluna lombar. Análise semiquantitativa foi feita utilizando o escore bone marrow burden (BMB). Correlação linear foi estudada para as variáveis volume esplênico, qualidade de vida e escore BMB. RESULTADOS: Uma correlação linear entre os escores BMB e volume esplênico foi demonstrada. Em relação ao índice de qualidade de vida, não foi observada correlação estatisticamente significante nem com o volume esplênico e nem com o escore BMB. CONCLUSÃO: Nosso estudo demonstrou uma correlação linear entre o escore BMB e o volume esplênico, correspondendo a maior extensão de doença óssea em indivíduos com maior esplenomegalia. Nenhuma correlação foi encontrada entre o escore BMB e a qualidade de vida, indicando a natureza insidiosa e a progressão silenciosa da doença de Gaucher.

Skeletal involvement in Gaucher disease: extent of bone disease, splenic volume, and quality of life / Envolvimento ósseo na doença de Gaucher: extensão do acometimento ósseo, volume esplênico e qualidade de vida

Abstract Objective: To investigate the correlations among the extent of bone involvement, splenic volume, and quality of life in patients with Gaucher disease. Materials and Methods: This was a descriptive, prospective cross-sectional study of 18 patients with Gaucher disease who underwent 3-T magnetic resonance imaging of both femurs and the lumbar spine. Semiquantitative analyses were performed on the basis of the bone marrow burden (BMB) score. We looked for linear relationships among the variables splenic volume, quality of life score, and BMB score. Results: We identified a linear relationship between the BMB scores and splenic volume. The quality of life score showed no statistically significant relationship with splenic volume or the BMB score. Conclusion: The linear relationship between the BMB score and the splenic volume indicates that the extent of bone disease is greater in individuals with splenomegaly. No correlation was found between the BMB and quality of life scores, illustrating the insidious and silent progression of Gaucher disease.

Resumo Objetivo: Investigar a correlação entre a extensão do envolvimento ósseo, o volume esplênico e a qualidade de vida em pacientes com doença de Gaucher. Materiais e Métodos: Estudo descritivo, prospectivo e transversal de 18 pacientes com doença de Gaucher submetidos a ressonância magnética de 3-T de ambos os fêmures e da coluna lombar. Análise semiquantitativa foi feita utilizando o escore bone marrow burden (BMB). Correlação linear foi estudada para as variáveis volume esplênico, qualidade de vida e escore BMB. Resultados: Uma correlação linear entre os escores BMB e volume esplênico foi demonstrada. Em relação ao índice de qualidade de vida, não foi observada correlação estatisticamente significante nem com o volume esplênico e nem com o escore BMB. Conclusão: Nosso estudo demonstrou uma correlação linear entre o escore BMB e o volume esplênico, correspondendo a maior extensão de doença óssea em indivíduos com maior esplenomegalia. Nenhuma correlação foi encontrada entre o escore BMB e a qualidade de vida, indicando a natureza insidiosa e a progressão silenciosa da doença de Gaucher.

Participação do pai jovem no acompanhamento do pré-natal: a visão do profissional de saúde / The young father involvement in the prenatal care: the perspectiveof healh professional / Participación del padre joven en el seguimiento del prenatal: el punto de vista del profesional de salud

Objetivo: conhecer a visão dos enfermeiros/as e médicos/as sobre a paternidade na adolescência; identificar ações direcionadas ao jovem pai no pré-natal. Método: pesquisa documental com abordagem qualitativa, com dados produzidos pelo projeto "Saúde sexual e reprodutiva como direito de mulheres e homens na atenção à saúde". Os documentos/entrevistas com profissionais que realizam consultas de pré-natal nas ESF possibilitaram a análise de conteúdo nas categorias: "Visão dos profissionais sobre paternidade na adolescência" e "Ações no pré-natal voltadas aos jovens pais". Resultados: as participantes declararam a diferença entre ser pai jovem e adulto, destacando-se a maturidade. A maioria condenou a gravidez na adolescência, e a não-frequência dos pais às consultas. Conclusão: ser pai, em qualquer idade, não afasta as relações tradicionais de gênero, sendo sua inclusão insuficiente. Interpretar negativamente a paternidade na adolescência contribui no afastamento desse jovem pai aos serviços de saúde

Objective: recognize nurses' and doctors' overview on adolescent fatherhood; Identify which actions are guided to a young father during prenatal care. Method: documental research with a qualitative approach, with data produced by the project "Sexual and reproductive health as women and men's right in health care." The documents/interviews from the professionals who consult prenatal in ESF enabled the analysis of the content in categories: "Professionals' overview on adolescent paternity" and "Actions during prenatal period on young fathers." Results: the participants stated the difference between being a young or adult father with emphasis in their maturity. Most of them bashed teenage pregnancy and also fathers' absences in consultations. Conclusion: being a father does not bring traditional gender relations out at any age, but his inclusion is unsatisfactory. A negative interpretation on adolescent paternity contributes to young father's distancing to health care services

Objetivo: conocer puntos de vista de enfermeros/as y médicos/as sobre paternidad adolescente; identificar acciones dirigidas al joven padre durante prenatal. Método: Investigación documental con enfoque cualitativo, cuyos datos son producidos por el proyecto "Salud sexual y reproductiva como derecho de mujeres y hombres en atención de salud." Documentos/entrevistas con profesionales realizando consultas de prenatal en ESF posibilitaron análisis de contenido en estas categorías: "Puntos de vista de profesionales sobre paternidad adolescente" y "Acciones en prenatal volcadas hacia jóvenes padres". Resultados: participantes declararon haber diferencia entre ser padre joven y adulto, destacando la madurez. La mayoría condenó el embarazo adolescente, y la no-asistencia de los padres a las consultas. Conclusión: ser padre, a cualquier edad, mantiene las relaciones tradicionales de género por tanto su inclusión es insuficiente. Interpretar negativamente la paternidad adolescente contribuye al alejamiento del joven padre de servicios de salud

Methods for acquiring MRI data in children with autism spectrum disorder and intellectual impairment without the use of sedation.

BACKGROUND: Magnetic resonance imaging (MRI) has been widely used in studies evaluating the neuropathology of autism spectrum disorder (ASD). Studies are often limited, however, to higher functioning individuals with ASD. MRI studies of individuals with ASD and comorbid intellectual disability (ID) are lacking, due in part to the challenges of acquiring images without the use of sedation. METHODS: Utilizing principles of applied behavior analysis (ABA), we developed a protocol for acquiring structural MRI scans in school-aged children with ASD and intellectual impairment. Board certified behavior analysts worked closely with each child and their parent(s), utilizing behavior change techniques such as pairing, shaping, desensitization, and positive reinforcement, through a series of mock scanner visits to prepare the child for the MRI scan. An objective, quantitative assessment of motion artifact in T1- and diffusion-weighted scans was implemented to ensure that high-quality images were acquired. RESULTS: The sample consisted of 17 children with ASD who are participants in the UC Davis Autism Phenome Project, a longitudinal MRI study aimed at evaluating brain developmental trajectories from early to middle childhood. At the time of their initial scan (2-3.5 years), all 17 children had a diagnosis of ASD and development quotient (DQ) <70. At the time of the current scan (9-13 years), 13 participants continued to have IQs in the range of ID (mean IQ = 54.1, sd = 12.1), and four participants had IQs in the normal range (mean = 102.2, sd = 7.5). The success rate in acquiring T1-weighted images that met quality assurance for acceptable motion artifact was 100 %. The success rate for acquiring high-quality diffusion-weighted images was 94 %. CONCLUSIONS: By using principles of ABA in a research MRI setting, it is feasible to acquire high-quality images in school-aged children with ASD and intellectual impairment without the use of sedation. This is especially critical to ensure that ongoing longitudinal studies of brain development can extend from infancy and early childhood into middle childhood in children with ASD at all levels of functioning, including those with comorbid ID.

A Spoken-Language Intervention for School-Aged Boys With Fragile X Syndrome.

Using a single case design, a parent-mediated spoken-language intervention was delivered to three mothers and their school-aged sons with fragile X syndrome, the leading inherited cause of intellectual disability. The intervention was embedded in the context of shared storytelling using wordless picture books and targeted three empirically derived language-support strategies. All sessions were implemented through distance videoteleconferencing. Parent education sessions were followed by 12 weekly clinician coaching and feedback sessions. Data were collected weekly during independent homework and clinician observation sessions. Relative to baseline, mothers increased their use of targeted strategies, and dyads increased the frequency and duration of story-related talking. Generalized effects of the intervention on lexical diversity and grammatical complexity were observed. Implications for practice are discussed.

Magnetic resonance imaging and BMB score in the evaluation of bone involvement in Gaucher's disease patients.

OBJECTIVE: To evaluate by magnetic resonance imaging changes in bone marrow of patients undergoing treatment for type I Gaucher's disease. MATERIALS AND METHODS: Descriptive, cross-sectional study of Gaucher's disease patients submitted to 3 T magnetic resonance imaging of femurs and lumbar spine. The images were blindly reviewed and the findings were classified according to the semiquantitative bone marrow burden (BMB) scoring system. RESULTS: All of the seven evaluated patients (three men and four women) presented signs of bone marrow infiltration. Osteonecrosis of the femoral head was found in three patients, Erlenmeyer flask deformity in five, and no patient had vertebral body collapse. The mean BMB score was 11, ranging from 9 to 14. CONCLUSION: Magnetic resonance imaging is currently the method of choice for assessing bone involvement in Gaucher's disease in adults due to its high sensitivity to detect both focal and diffuse bone marrow changes, and the BMB score is a simplified method for semiquantitative analysis, without depending on advanced sequences or sophisticated hardware, allowing for the classification of the disease extent and assisting in the treatment monitoring.

OBJETIVO: Avaliar, por meio de ressonância magnética, alterações da medular óssea de pacientes em tratamento para doença de Gaucher tipo I. MATERIAIS E MÉTODOS: Estudo descritivo e transversal de pacientes com doença de Gaucher tipo I, com realização de ressonância magnética de 3 T da coluna lombar e fêmures, analisada por meio do escore semiquantitativo denominado bone marrow burden (BMB), sem conhecimento das informações clínicas. RESULTADOS: Dos sete pacientes avaliados (três homens e quatro mulheres), todos apresentaram sinais de infiltração da medula óssea. Osteonecrose da cabeça femoral foi encontrada em três pacientes, deformidade em frasco de Erlenmeyer em cinco e nenhum paciente apresentou colapso de corpo vertebral. A pontuação média do escore BMB total foi 11, variando de 9 a 14. CONCLUSÃO: A ressonância magnética é, atualmente, o método de escolha em adultos para avaliar o envolvimento ósseo na doença de Gaucher, em virtude da sua elevada sensibilidade na detecção de alterações tanto focais quanto difusas da medula óssea, sendo o escore BMB um método simplificado de análise semiquantitativa, sem depender de sequências avançadas ou de hardware sofisticado, permitindo classificar a extensão do acometimento da doença e ajudando no monitoramento do tratamento.

Magnetic resonance imaging and BMB score in the evaluation of bone involvement in Gaucher’s disease patients / Ressonância magnética e o escore BMB na avaliação do acometimento ósseo em pacientes com doença de Gaucher

AbstractObjective:To evaluate by magnetic resonance imaging changes in bone marrow of patients undergoing treatment for type I Gaucher’s disease.Materials and Methods:Descriptive, cross-sectional study of Gaucher’s disease patients submitted to 3 T magnetic resonance imaging of femurs and lumbar spine. The images were blindly reviewed and the findings were classified according to the semiquantitative bone marrow burden (BMB) scoring system.Results:All of the seven evaluated patients (three men and four women) presented signs of bone marrow infiltration. Osteonecrosis of the femoral head was found in three patients, Erlenmeyer flask deformity in five, and no patient had vertebral body collapse. The mean BMB score was 11, ranging from 9 to 14.Conclusion:Magnetic resonance imaging is currently the method of choice for assessing bone involvement in Gaucher’s disease in adults due to its high sensitivity to detect both focal and diffuse bone marrow changes, and the BMB score is a simplified method for semiquantitative analysis, without depending on advanced sequences or sophisticated hardware, allowing for the classification of the disease extent and assisting in the treatment monitoring.

ResumoObjetivo:Avaliar, por meio de ressonância magnética, alterações da medular óssea de pacientes em tratamento para doença de Gaucher tipo I.Materiais e Métodos:Estudo descritivo e transversal de pacientes com doença de Gaucher tipo I, com realização de ressonância magnética de 3 T da coluna lombar e fêmures, analisada por meio do escore semiquantitativo denominado bone marrow burden(BMB), sem conhecimento das informações clínicas.Resultados:Dos sete pacientes avaliados (três homens e quatro mulheres), todos apresentaram sinais de infiltração da medula óssea. Osteonecrose da cabeça femoral foi encontrada em três pacientes, deformidade em frasco de Erlenmeyer em cinco e nenhum paciente apresentou colapso de corpo vertebral. A pontuação média do escore BMB total foi 11, variando de 9 a 14.Conclusão:A ressonância magnética é, atualmente, o método de escolha em adultos para avaliar o envolvimento ósseo na doença de Gaucher, em virtude da sua elevada sensibilidade na detecção de alterações tanto focais quanto difusas da medula óssea, sendo o escore BMB um método simplificado de análise semiquantitativa, sem depender de sequências avançadas ou de hardware sofisticado, permitindo classificar a extensão do acometimento da doença e ajudando no monitoramento do tratamento.

Multisystemic Langerhans cell histiocytosis with advanced lung involvement.

Langerhans cell histiocytosis is a rare disease of unknown cause, characterized by the proliferation of histiocytic cells (Langerhans cells), that can sometimes be especially difficult to diagnose due to its wide clinical spectrum, ranging from a single lesion to a multisystemic disorder. Appropriate disease staging is fundamental, since treatment depends upon the severity of the disease, and imaging methods play a fundamental role not only in diagnosing and assessing the extent of Langerhans cell histiocytosis, as well as guiding the appropriate treatment for the patient and their monitoring.

Sources of variation in energy and nutrient intakes among children from six to thirty months old in a population-based study.

The objective of this article was to describe and analyze sources of variation in the dietary intakes of children aged 6 to 30 months. The data was obtained from two 24-hour recall surveys of a sample of 383 children of both sexes in the metropolitan region of Rio de Janeiro, Brazil. Age and the food insecurity scale, which was used as a proxy to characterize socioeconomic differences, were considered. The analysis was based on food groups. The ratio of the coefficients' variation was calculated, and the crude and de-attenuated relative means for energy and macro- and micronutrients were estimated. In addition, the number of 24-hour recall replications was also estimated. Age and food insecurity had significant impacts on the average number of servings of food groups. The coefficients of variation ratios for most nutrients were < 1, except for vitamin C and for children in the younger age group. The number of 24-hour recall required ranged from 1 to 6 days and was higher for vitamin C.

Sources of variation in energy and nutrient intakes among children from six to thirty months old in a population-based study / Fontes de variação no consumo de energia e nutrientes entre crianças de seis a trinta meses de um estudo de base populacional

Este artigo tem como objetivo descrever e analisar fontes de variação do consumo dietético de crianças na faixa etária de 6 a 30 meses de idade, obtidas por meio de dois recordatórios de 24 horas, aplicados em uma amostra de 383 crianças de ambos os sexos da Região Metropolitana do Rio de Janeiro, Brasil. Além da idade utilizou-se a escala de insegurança alimentar como proxy para caracterizar diferenças socioeconômicas. A análise baseou-se em grupos de alimentos, calculou-se a razão dos coeficientes de variação, sendo estimadas as médias brutas e deatenuadas para energia, macro e micronutrientes, e o número de repetições de recordatórios de 24 horas. Idade e insegurança alimentar influenciaram significantemente a média das porções dos grupos de alimentos. A razão dos coeficientes de variação para a maioria dos nutrientes foi menor que 1, "exceto para vitamina C no grupo de crianças na faixa etária mais jovem". O número de recordatórios necessários variou de um a seis dias, sendo maiores para vitamina C.

The objective of this article was to describe and analyze sources of variation in the dietary intakes of children aged 6 to 30 months. The data was obtained from two 24-hour recall surveys of a sample of 383 children of both sexes in the metropolitan region of Rio de Janeiro, Brazil. Age and the food insecurity scale, which was used as a proxy to characterize socioeconomic differences, were considered. The analysis was based on food groups. The ratio of the coefficients' variation was calculated, and the crude and de-attenuated relative means for energy and macro- and micronutrients were estimated. In addition, the number of 24-hour recall replications was also estimated. Age and food insecurity had significant impacts on the average number of servings of food groups. The coefficients of variation ratios for most nutrients were < 1, except for vitamin C and for children in the younger age group. The number of 24-hour recall required ranged from 1 to 6 days and was higher for vitamin C.

Comparação de dois programas computacionais utilizados na estimativa do consumo alimentar de crianças / Comparison of two nutrition software applications used to estimate food intake of children

OBJETIVO: Avaliar a concordância entre dois programas computacionais de análise do consumo alimentar de crianças de 6 a 30 meses. MATERIAIS E MÉTODOS: Foram selecionadas 100 crianças de 6 a 30 meses de idade entre 407 crianças cujas mães responderam o recordatório de 24 horas em visitas domiciliares. Foram comparados: 1) as gramaturas das medidas caseiras dos 10 alimentos mais consumidos entre os dois programas e em relação a uma tabela de pesos e medidas nacional; 2) os valores médios do consumo de consumo de energia e nutrientes. A análise estatística foi feita através do coeficiente de correlação de Spearman e metodologia descrita por Bland & Altman. RESULTADOS: Foram observadas diferenças entre as gramaturas em relação à medida caseira correspondente para quase todos os alimentos selecionados. Comparando as médias de consumo entre os dois programas, observamos maior correlação entre o consumo de carboidratos (r=0,81) e menor correlação para o consumo de zinco (r=0,52). As médias de consumo de energia e de macronutrientes pelo programa Virtual Nutri foram superiores aos valores obtidos pelo NutWin, enquanto que para o consumo de micronutrientes observamos valores superiores na análise pelo program NutWin. O consumo de vitamina C e retinol revelou diferença reduzida entre os programas. CONCLUSÃO: Os programas selecionados para análise do consumo dietético infantil apresentam diferenças quanto às gramaturas utilizadas, que se refletem através das diferenças na estimava de energia e nutrientes consumidos.

OBJECTIVE: To evaluate the agreement between two nutrition software applications frequently used to estimate food intake in children from 6 to 30 months of age. METHODS: One hundred children, from 6 to 30 months, were sampled from 407 children, whose mothers answered a 24-hour recall. Interviews took place in the households. Sizes of portions for the 10 most frequently consumed foods were compared based on both software applications. Portion sizes in each software application were compared to the national table of portion sizes. Estimated energy intake and nutrients were also analyzed. The statistical analysis was conducted using the Spearman correlation coefficient and the Bland & Altman method. RESULTS: There were great differences between portion sizes in each software application in relation to the corresponding portion size in the national table for almost all foods selected. Comparing the mean intake between the two software applications, the greatest correlation was between carbohydrates (r=0.81) and the smallest correlation was observed for zinc (r=0.52). The mean energy intake and macronutrient intake by the Virtual Nutri program were higher than values based on the NutWin application. On the other hand, values of micronutrient intake were higher on the NutWin software. The two software applications differed slightly on the intakes of vitamin C and retinol. CONCLUSION: The choice of software application may play an important role when estimating the food intake of children, both in relation to portion sizes and also because of food composition tables.