Continuous interstitial glucose monitoring for term newborns: analysis of the first day of life.

OBJECTIVE: Glycaemia in newborns changes significantly after birth; however, little is known about these changes. The objective was to describe continuous interstitial glucose values in term newborns who were exclusively breast fed on the first day of life. DESIGN: We studied 159 newborns with appropriate weights for gestational age, who were exclusively breast fed on the first day of life, using a continuous glucose monitoring device that calculates interstitial glucose every 5 min. The device was removed after 24 hours, and the results were analysed using the R program, which provides the minimum, maximum, median and a standard curve with centiles. RESULTS: At the second hour of life, the moment in which the sensor started to identify the newborn's glycaemia, interstitial glucose levels were 2.59-4.43 mmol/L (46.7-79.9 mg/dL). The median interstitial glucose level of the newborns during the first day of life was 3.33±0.48 mmol/L (60±8.6 mg/dL). Interstitial glucose levels dropped until the sixth hour of life, reaching 2.19-3.95 mmol/L (39.5-71.1 mg/dL), and then increased again. The maximum values were found at the 20th and 21st hours of life, which were 2.81-4.64 mmol/L (50.6-83.6 mg/dL). CONCLUSION: The interstitial glucose during the first 24 hours of life declined until the sixth hour of life, then increased around the 20th hour and remained stable until the end of the first day of life.

LioNeo project: a randomised double-blind clinical trial for nutrition of very-low-birth-weight infants.

We assessed the effectiveness of lyophilised banked human milk (HM) as a fortifier to feed very-low-birth-weight infants (VLBWI). This study aimed to evaluate the safety and tolerability of HM with HM lyophilisate as an additive compared with the standard additive (cows' milk protein). In this phase I double-blind randomised controlled clinical trial, set in the intensive and intermediate care units of a tertiary hospital, forty VLBWI were enrolled and allocated into two groups: HM plus HM lyophilisate (LioNeo) or HM plus commercial additive (HMCA). The inclusion criteria were preterm infants, birth weight 750-1500 g, small or adequate for gestational age, exclusively receiving donor HM, volume ≥ 100 ml/kg per d and haemodynamically stable. Participants were followed up for 21 consecutive days. The primary outcome measures were necrotising enterocolitis (NEC), late-onset sepsis (LOS), death, gastrointestinal (GI) bleeding or perforation, diarrhoea, regurgitation, vomiting and abdominal distension. The LioNeo and HMCA groups had similar weights at baseline. The regression models showed no differences between the groups in terms of the primary outcomes. Diarrhoea, GI perforation, NEC and LOS were absent in the LioNeo group (one LOS and one NEC in the HMCA group). Multiple regression analysis with the total volume of milk as a covariate did not show significant differences. The lyophilisation of donor HM was considered safe and tolerable for use in stable haemodynamically VLBWI.

DNA Damage, n-3 Long-Chain PUFA Levels and Proteomic Profile in Brazilian Children and Adolescents.

Fatty acids play a significant role in maintaining cellular and DNA protection and we previously found an inverse relationship between blood levels of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) and DNA damage. The aim of this study was to explore differences in proteomic profiles, for 117 pro-inflammatory proteins, in two previously defined groups of individuals with different DNA damage and EPA and DHA levels. Healthy children and adolescents (n = 140) aged 9 to 13 years old in an urban area of Brazil were divided by k-means cluster test into two clusters of DNA damage (tail intensity) using the comet assay (cluster 1 = 5.9% ± 1.2 and cluster 2 = 13.8% ± 3.1) in our previous study. The cluster with higher DNA damage and lower levels of DHA (6.2 ± 1.6 mg/dL; 5.4 ± 1.3 mg/dL, p = 0.003) and EPA (0.6 ± 0.2 mg/dL; 0.5 ± 0.1 mg/dL, p < 0.001) presented increased expression of the proteins CDK8-CCNC, PIK3CA-PIK3R1, KYNU, and PRKCB, which are involved in pro-inflammatory pathways. Our findings support the hypothesis that low levels of n-3 long-chain PUFA may have a less protective role against DNA damage through expression of pro-inflammatory proteins, such as CDK8-CCNC, PIK3CA-PIK3R1, KYNU, and PRKCB.

Biomarker-based validity of a food frequency questionnaire estimating intake in Brazilian children and adolescents.

This study evaluated the validity of nutrient and food group intakes estimated by an FFQ against biomarkers. A 71-item semiquantitative FFQ was administered to 210 Brazilian children and adolescents aged 9-13 years. Intakes were correlated with biomarkers in plasma and red blood cells. Correlations between nutrients and their biomarkers were presented for animal protein, myristic acid (C14:0), EPA, DHA, ß-carotene, folate, and vitamins B3, B5 and B6. Food groups and biomarkers were correlated as follows: fish products with EPA and DHA; milk and dairy with C14:0, pyridoxal 5'-phosphate and vitamin B12; total vegetables and dark green and orange vegetables with ß-carotene; 5-methyltetrahydrofolate with green vegetables; and flour products with para-aminobenzoylglutamic acid. This FFQ is a valid tool for ranking Brazilian children and adolescents according to their intake of several nutrients and food groups.

NUTRITIONAL STATUS IN CHILDREN WITH CANCER: COMPARISON OF DEUTERIUM OXIDE DILUTION WITH BIOELECTRIC IMPEDANCE ANALYSIS AND ANTHROPOMETRY.

OBJECTIVE: To explore changes in the nutritional status of pediatric cancer patients before and after chemotherapy and evaluate the correlation between deuterium oxide dilution, bioelectric impedance analysis, and anthropometry for assessment of body composition. METHODS: This study included 14 children (aged 5.6 to 13.6 years) and classified them as having hematologic or solid tumors. They had their body composition analyzed according to deuterium oxide, bioelectric impedance, and anthropometric measurements before the first chemotherapy cycle and after three and six months of therapy. RESULTS: The patients in the hematologic tumor group had an increase in weight, height, body mass index, waist, hip, and arm circumference, subscapular skinfold thickness, and fat mass with the isotope dilution technique during chemotherapy. In the solid tumor group, the children showed a reduction in fat-free mass when assessed by bioimpedance analysis. We found a positive correlation between the triceps skinfold thickness and fat mass determined by bioimpedance analysis and deuterium oxide. The arm muscle circumference correlated with the fat-free mass estimated by bioimpedance analysis and deuterium oxide. CONCLUSIONS: Patients with hematologic tumors had an increase in body weight, height, and fat mass, which was not identified in the solid tumor group. The positive correlation between anthropometry (triceps skinfold thickness and arm muscle circumference), deuterium oxide dilution, and bioelectric impedance analysis shows the applicability of anthropometry in clinical practice.

Nutritional status in children with cancer: comparison of deuterium oxide dilution with bioelectric impedance analysis and anthropometry / Estado nutricional em crianças com câncer: comparação entre diluição de deutério, impedância bioelétrica e antropometria

ABSTRACT Objective: To explore changes in the nutritional status of pediatric cancer patients before and after chemotherapy and evaluate the correlation between deuterium oxide dilution, bioelectric impedance analysis, and anthropometry for assessment of body composition. Methods: This study included 14 children (aged 5.6 to 13.6 years) and classified them as having hematologic or solid tumors. They had their body composition analyzed according to deuterium oxide, bioelectric impedance, and anthropometric measurements before the first chemotherapy cycle and after three and six months of therapy. Results: The patients in the hematologic tumor group had an increase in weight, height, body mass index, waist, hip, and arm circumference, subscapular skinfold thickness, and fat mass with the isotope dilution technique during chemotherapy. In the solid tumor group, the children showed a reduction in fat-free mass when assessed by bioimpedance analysis. We found a positive correlation between the triceps skinfold thickness and fat mass determined by bioimpedance analysis and deuterium oxide. The arm muscle circumference correlated with the fat-free mass estimated by bioimpedance analysis and deuterium oxide. Conclusions: Patients with hematologic tumors had an increase in body weight, height, and fat mass, which was not identified in the solid tumor group. The positive correlation between anthropometry (triceps skinfold thickness and arm muscle circumference), deuterium oxide dilution, and bioelectric impedance analysis shows the applicability of anthropometry in clinical practice.

RESUMO Objetivo: Verificar mudanças no estado nutricional de crianças com câncer antes e após o tratamento quimioterápico e avaliar a correlação entre diluição de óxido de deutério, análise de impedância bioelétrica (BIA) e dados antropométricos. Métodos: Quatorze crianças (entre 5,6 e 13,6 anos de idade) foram incluídas e classificadas como tendo tumores hematológicos ou sólidos. A composição corporal foi medida pelo óxido de deutério, impedância bioelétrica e medidas antropométricas antes da primeira quimioterapia e após três e seis meses de terapia. Resultados: Os pacientes do grupo de tumores hematológicos aumentaram o peso, a estatura, o índice de massa corporal, a circunferência da cintura, quadril e braço, dobra cutânea subescapular e a massa gorda com a técnica de diluição isotópica durante o tratamento quimioterápico. No grupo de tumores sólidos, as crianças mostraram uma redução na massa magra quando avaliadas por análise de impedância. Houve uma correlação positiva entre a dobra cutânea tricipital e a massa gorda determinadas pela análise de impedância e pelo óxido de deutério. A circunferência muscular do braço correlacionou-se com a massa magra estimada pela análise de impedância e pelo óxido de deutério. Conclusões: Pacientes com tumores hematológicos tiveram aumento no peso corporal, estatura e massa gorda, o que não foi observado naqueles com tumores sólidos. A boa correlação entre a antropometria (dobra cutânea tricipital e circunferência muscular do braço), a diluição do óxido de deutério e a análise da impedância bioelétrica mostra a aplicabilidade da antropometria na prática clínica.

Metabo groups in response to micronutrient intervention: Pilot study.

Micronutrients and their metabolites are cofactors in proteins involved in lipid metabolism. The present study was a subproject of the Harmonized Micronutrient Project (ClinTrials.gov # NCT01823744). Twenty participants were randomly selected from 136 children and adolescents that consumed a daily dose of 12 vitamins and 5 minerals supplementation for 6 weeks. The 20 individuals were divided into two pools of 10 individuals, according to their lipid profile at baseline (Pool 1 with lower triglycerides, LDL, and VLDL). The individuals were analyzed at baseline, after 6 weeks of daily supplementation, and after 6 weeks of a washout period in relation to anthropometric, body composition, food intake, lipid profile, micronutrient levels, and iTRAQ proteomic data. Genetic ancestry and its association with vitamin serum levels were also determined. After supplementation, LDL levels decreased while alpha-tocopherol and pantothenic acid levels increased in pool 2; lipid profiles in pool 1 did not change but had higher plasma levels of pantothenic acid, pyridoxal, and pyridoxic acid. In pool 2, expression of some proteins increased, and expression of other ones decreased after intervention, while in pool 1, the same proteins responded inversely or did not change their levels. Plasma alpha-tocopherol and Native American genetic ancestry explained a significant fraction of LDL plasma levels at baseline and in response to the intervention. After intervention, changes in expression of alpha-1 antitrypsin, haptoglobin, Ig alpha-1 chain C region, plasma protease C1 inhibitor, alpha-1-acid glycoprotein 1, fibrinogen alpha, beta, and gamma-chain in individuals in pool 2 may be associated with levels of LDL and vitamin E. Vitamin E and Native American genetic ancestry may also be implicated in changes of vitamin E and LDL levels. The results of this pilot study must be validated in future studies with larger sample size or in in vitro studies.

Metabolic Groups Related to Blood Vitamin Levels and Inflammatory Biomarkers in Brazilian Children and Adolescents.

Certain B-vitamins and vitamin A may be involved in inflammatory pathways associated with homocysteine and omega-3 fatty acids. The aims of this study were (i) to determine whether different metabolic profiles of B-vitamins and vitamin A in Brazilian children and adolescents were positively or negatively related to homocysteine and omega-3 fatty acids using k-means clustering analysis, (ii) compare nutrient intakes and metabolites between the different metabolic profiles, (iii) evaluate if the statistically significant metabolites found between the metabolic groups, can predict the variation of leukotriene A4 hydrolase (LTA4H) levels, a biomarker of low-grade inflammation, in the total studied population. This cross-sectional study included 124 children and adolescents, aged 9-13 y old. Dietary intake was assessed by the food frequency questionnaire and 24-hour recall. Biomarkers for vitamins B2, B6, B12, folate and vitamin A were measured in plasma. Omega-3 fatty acids and homocysteine were measured in red blood cells (RBC). Two different metabolic profiles were found. Thirty of these individuals had overall average higher riboflavin, pyridoxal, and vitamin B12 plasma levels (metabolic group 1) compared to 94 individuals (group 2). Group 2 had lower dietary intake of vitamin B2, vitamin A, and vitamin B12 and higher RBC levels of homocysteine. EPA and DHA erythrocyte levels were not different between metabolic groups. Multiple linear regression analyses showed that blood cobalamin, riboflavin, pyridoxal and homocysteine combined, explained 9.0% of LTA4H levels variation in the total studied population. The metabolic group that had low plasma levels of riboflavin, pyridoxal, and cobalamin also had a lower dietary intake of B-vitamin and higher RBC homocysteine. The combined levels of the riboflavin, pyridoxal, cobalamin and homocysteine biomarkers can predict the variation of LTA4H in the total population studied, but it is not clear how this regulation occurs.

Vitamin B2 and Folate Concentrations are Associated with ARA, EPA and DHA Fatty Acids in Red Blood Cells of Brazilian Children and Adolescents.

Vitamins B2, B6, B12, and folate are essential for methylation reactions and possibly influence the transport of polyunsaturated fatty acids in plasma and red blood cells (RBC). Associations between B-vitamin biomarkers and fatty acid (FA) profile were analyzed in Brazilian children and adolescents. This cross-sectional study included 249 children and adolescents, aged 9-13 years old. Dietary intake was assessed by the food frequency questionnaire and the healthy eating index (HEI). Biomarkers for vitamins B2, B6, B12, and folate were measured in plasma. The FA profile and the metabolites of one-carbon metabolism were measured in RBC. Associations were tested with multiple linear regression models. An increase of 1 nmol/L in vitamin B2 was associated with an increase of 0.19 mg/dL of EPA, 0.20 mg/dL of ARA, and 0.25 mg/dL of DHA in RBC. An increase of 1 ng/mL in plasma folate was associated with an increase of 0.14 mg/dL of EPA, 0.22 mg/dL of ARA, and 0.21 mg/dL of DHA in RBC. These findings highlight the importance of an adequate intake of vitamin B2 and folate in childhood, since they may improve the FA profile in RBCs and may help prevent cardiovascular disease.

Neurocomportamento de bebês nascidos pré-termo, pequenos e adequados para a idade gestacional / Neurobehavior of preterm, small and appropriate for gestational age newborn infants

RESUMO Objetivo: Comparar o desenvolvimento neurocomportamental de bebês pré-termo com idade pós-concepcional entre 32 e 36 semanas e 6 dias, de acordo com a adequação do peso para a idade gestacional ao nascer. Métodos: Realizou-se um estudo transversal de comparação entre dois grupos independentes. Os 55 bebês prematuros que compuseram a amostra estavam internados em uma unidade de cuidados intermediários neonatais e foram avaliados por meio de Neurobehavioral Assessment of the Preterm Infant (NAPI) com idade pós-concepcional entre 32 e 36 semanas e 6 dias e comparados de acordo com a adequação do peso para a idade gestacional. Além da comparação entre os grupos, bebês nascidos pequenos para a idade gestacional (PIG) e os adequados para a idade gestacional (AIG) também foram comparados, considerando o tipo de crescimento intrauterino. Os seguintes instrumentos foram utilizados: NAPI, roteiro de anamnese, Critério de Classificação Econômica Brasil, da Associação Brasileira de Empresas de Pesquisa (ABEP), e prontuário médico. Resultados: Na população de estudo, a idade gestacional média foi de 32,0 semanas, enquanto a idade pós-conceptual e cronológica à avaliação foi de 34,8 semanas e 19,5 dias, respectivamente, sendo 55% dos bebês do sexo feminino. Não houve nenhuma diferença nos domínios do NAPI entre os grupos PIG e AIG, nem nos subgrupos de bebês PIG classificados segundo o crescimento em simétrico ou assimétrico. Conclusões: Não houve diferença entre os bebês PIG e AIG em relação ao desenvolvimento neurocomportamental avaliado antes de chegar ao termo.

ABSTRACT Objective: To compare the neurobehavioral development of preterm infants with postconceptional age between 32 and 36 weeks and 6 days, according to the adequacy of the weight for the gestational age at birth. Methods: A cross-sectional study was performed comparing two independent groups. The 55 preterm infants who were included in the sample were hospitalized in a neonatal intermediate care unit and were evaluated using the Neurobehavioral Assessment of the Preterm Infant (NAPI) at the postconceptional age between 32 and 36 weeks and 6 days and compared according to the adequacy of the weight for the gestational age. In addition to the comparison between the groups, infants who were born small for gestational age (SGA) and those ones adequate for gestational age (AGA) were also compared, considering the type of intrauterine growth. The following instruments were used: NAPI, anamnesis script, Brazilian Economic Classification Criteria, and medical records. Results: Infants were born with mean gestational age of 32.0 weeks, with the postconceptional age and postnatal age of 34.8 weeks and 19.5 days, respectively. The sample consisted of 55% of female infants. The results did not show any differences in NAPI domains between SGA and AGA groups, neither in the subgroups of SGA babies with symmetric or asymmetric growth. Conclusions: There was no difference between SGA and AGA babies in relation to neurobehavioral development evaluated before reaching term.

NEUROBEHAVIOR OF PRETERM, SMALL AND APPROPRIATE FOR GESTATIONAL AGE NEWBORN INFANTS. / NEUROCOMPORTAMENTO DE BEBÊS NASCIDOS PRÉ-TERMO, PEQUENOS E ADEQUADOS PARA A IDADE GESTACIONAL.

OBJECTIVE: To compare the neurobehavioral development of preterm infants with postconceptional age between 32 and 36 weeks and 6 days, according to the adequacy of the weight for the gestational age at birth. METHODS: A cross-sectional study was performed comparing two independent groups. The 55 preterm infants who were included in the sample were hospitalized in a neonatal intermediate care unit and were evaluated using the Neurobehavioral Assessment of the Preterm Infant (NAPI) at the postconceptional age between 32 and 36 weeks and 6 days and compared according to the adequacy of the weight for the gestational age. In addition to the comparison between the groups, infants who were born small for gestational age (SGA) and those ones adequate for gestational age (AGA) were also compared, considering the type of intrauterine growth. The following instruments were used: NAPI, anamnesis script, Brazilian Economic Classification Criteria, and medical records. RESULTS: Infants were born with mean gestational age of 32.0 weeks, with the postconceptional age and postnatal age of 34.8 weeks and 19.5 days, respectively. The sample consisted of 55% of female infants. The results did not show any differences in NAPI domains between SGA and AGA groups, neither in the subgroups of SGA babies with symmetric or asymmetric growth. CONCLUSIONS: There was no difference between SGA and AGA babies in relation to neurobehavioral development evaluated before reaching term.

OBJETIVO: Comparar o desenvolvimento neurocomportamental de bebês pré-termo com idade pós-concepcional entre 32 e 36 semanas e 6 dias, de acordo com a adequação do peso para a idade gestacional ao nascer. MÉTODOS: Realizou-se um estudo transversal de comparação entre dois grupos independentes. Os 55 bebês prematuros que compuseram a amostra estavam internados em uma unidade de cuidados intermediários neonatais e foram avaliados por meio de Neurobehavioral Assessment of the Preterm Infant (NAPI) com idade pós-concepcional entre 32 e 36 semanas e 6 dias e comparados de acordo com a adequação do peso para a idade gestacional. Além da comparação entre os grupos, bebês nascidos pequenos para a idade gestacional (PIG) e os adequados para a idade gestacional (AIG) também foram comparados, considerando o tipo de crescimento intrauterino. Os seguintes instrumentos foram utilizados: NAPI, roteiro de anamnese, Critério de Classificação Econômica Brasil, da Associação Brasileira de Empresas de Pesquisa (ABEP), e prontuário médico. RESULTADOS: Na população de estudo, a idade gestacional média foi de 32,0 semanas, enquanto a idade pós-conceptual e cronológica à avaliação foi de 34,8 semanas e 19,5 dias, respectivamente, sendo 55% dos bebês do sexo feminino. Não houve nenhuma diferença nos domínios do NAPI entre os grupos PIG e AIG, nem nos subgrupos de bebês PIG classificados segundo o crescimento em simétrico ou assimétrico. CONCLUSÕES: Não houve diferença entre os bebês PIG e AIG em relação ao desenvolvimento neurocomportamental avaliado antes de chegar ao termo.

Clinical and Vitamin Response to a Short-Term Multi-Micronutrient Intervention in Brazilian Children and Teens: From Population Data to Interindividual Responses.

SCOPE: Micronutrients are in small amounts in foods, act in concert, and require variable amounts of time to see changes in health and risk for disease. These first principles are incorporated into an intervention study designed to develop new experimental strategies for setting target recommendations for food bioactives for populations and individuals. METHODS AND RESULTS: A 6-week multivitamin/mineral intervention is conducted in 9-13 year olds. Participants (136) are (i) their own control (n-of-1); (ii) monitored for compliance; (iii) measured for 36 circulating vitamin forms, 30 clinical, anthropometric, and food intake parameters at baseline, post intervention, and following a 6-week washout; and (iv) had their ancestry accounted for as modifier of vitamin baseline or response. The same intervention is repeated the following year (135 participants). Most vitamins respond positively and many clinical parameters change in directions consistent with improved metabolic health to the intervention. Baseline levels of any metabolite predict its own response to the intervention. Elastic net penalized regression models are identified, and significantly predict response to intervention on the basis of multiple vitamin/clinical baseline measures. CONCLUSIONS: The study design, computational methods, and results are a step toward developing recommendations for optimizing vitamin levels and health parameters for individuals.

Bioelectrical Impedance Vector Analysis in Healthy Term Infants in the First Three Months of Life in Brazil.

OBJECTIVE: Bioelectrical impedance vectorial analysis (BIVA) can be considered a favorable method for evaluation and monitoring of nutritional and hydration status without assumptions regarding body composition or requirement of prediction formulas. The present study aimed to determine bivariate tolerance intervals of the whole-body impedance vector for healthy term infants aged 1 to 3 months. METHODS: This is a descriptive cross-sectional study. Anthropometric and bioelectrical impedance data (800 mA-50 kHz) were obtained. Bivariate vector analysis was conducted with the resistance-reactance (RXc) graph method. BIVA software was used to construct the graphs. RESULTS: A total of 150 appropriate for gestational age infants (48.7% boys) who were exclusively breastfed and were 56.4 (SD = 23.1) days of age were studied. RXc tolerance ellipses (50, 75, and 95%) were constructed for boys and girls, but a general reference graph was defined for all infants considering the overlapping of ellipses between the genders. All graphs differed from those in national and foreign studies. CONCLUSION: New reference tolerance ellipses (95, 75, and 50%) for 1- to 3-month-old infants were constructed, pointing out the need for specific reference values of total body impedance vectors in different regions of Brazil. The RXc tolerance ellipses can be used for clinical practice and provide an easy method to evaluate and monitor body composition and hydration status.

Phase angle and World Health Organization criteria for the assessment of nutritional status in children with osteogenesis imperfecta / Ângulo de fase e critérios da Organização Mundial de Saúde na avaliação do estado nutricional em crianças com osteogênese imperfeita

Abstract Objective: To compare the phase angle of patients with osteogenesis imperfecta treated at a tertiary university hospital with patients in a control group of healthy children, and to assess the nutritional status of these patients through the body mass index proposed by the World Health Organization. Methods: Cross-sectional study carried out in a university hospital that included seven patients with osteogenesis imperfecta and a control group of 17 healthy children of the same gender and age. Weight and height were measured and bioelectrical impedance was performed. Subsequently, the phase angle was calculated based on resistance and reactance values. Results: The phase angle of the group of children with osteogenesis imperfecta was significantly lower than that of the control group (p<0.05). The body mass index criterion for age of the World Health Organization showed no difference between groups. Conclusions: Children with osteogenesis imperfecta have a nutritional risk detected by the phase angle, which is a useful tool for nutritional screening. The calculation result could help in the diet therapy of patients with osteogenesis imperfecta.

Resumo Objetivo: Comparar o ângulo de fase de pacientes com osteogênese imperfeita atendidos em um hospital universitário terciário com pacientes de um grupo controle de crianças saudáveis, bem como avaliar o estado nutricional desses pacientes pelo índice de massa corporal proposto pela Organização Mundial de Saúde. Métodos: Estudo transversal feito em hospital universitário que incluiu sete pacientes com osteogênese imperfeita e um grupo controle composto por 17 crianças saudáveis de mesmo sexo e idade. Foram aferidos peso e estatura e foi feito o exame de impedância bioelétrica. Posteriormente, o ângulo de fase foi calculado a partir dos valores de resistência e reactância. Resultados: O ângulo de fase do grupo de crianças com osteogênese imperfeita foi significativamente menor do que o do grupo controle (p<0,05). O critério de índice de massa corporal por idade da Organização Mundial de Saúde não mostrou diferença entre os grupos. Conclusões: Crianças com osteogênese imperfeita têm um risco nutricional detectado pelo ângulo de fase, é uma ferramenta útil para triagem nutricional. O resultado do cálculo poderia auxiliar a dietoterapia de pacientes com osteogênese imperfeita.

Doença de gaucher tipo 1 no esqueleto: revisão da américa latina / Gaucher disease type 1 in the skeleton: review of latin america / Enfermedad de gaucher tipo 1 en el esqueleto: revisión de américa latina

RESUMO A doença de Gaucher (DG) é a doença de depósito lisossômico mais prevalente, que se caracteriza pelo acúmulo de glicosilceramida e glucosilesfingosina em todos os tecidos do corpo. Com o advento da terapia de reposição de enzimas, o prognóstico dos pacientes com DG melhorou acentuadamente. Ainda assim, as manifestações esqueléticas associadas à DG respondem lentamente à terapia de reposição de enzimas e são as que contribuem de forma mais significativa para a morbidade do paciente. Esta revisão das manifestações ósseas da DG apresenta as mais recentes teorias sobre a sua fisiopatologia e uma revisão sistemática de estudos com pacientes latino-americanos que relataram a frequência das manifestações ósseas e os efeitos da terapia de reposição de enzimas sobre seu tratamento. Concluímos, destacando a importância da identificação precoce e do manejo adequado das doses apropriadas da terapia de reposição de enzimas para reduzir a morbidade causada pela DG.

ABSTRACT Gaucher disease (GD) is the most prevalent lysosomal storage disease, and is characterized by the accumulation of glucosylceramide and glucosylsphingosine in tissues throughout the body. With the advent of enzyme replacement therapy, the prognosis for patients with GD has dramatically improved. Still, the skeletal manifestations associated with GD respond slowly to enzyme replacement therapy and are the most significant contributor of disease related patient morbidity. This review of bone manifestations in GD presents the most recent theories on its pathophysiology, and gives a systematic review of studies with Latin American patients that report the frequency of bone manifestations and the effects of enzyme replacement therapy on their treatment. We conclude by emphasizing the importance of early identification and proper management at appropriate dosage levels of enzyme replacement therapy to reduce the morbidity caused by GD.

RESUMEN La enfermedad de Gaucher (EG) es la patología de depósito lisosomal más prevalente, que se caracteriza por la acumulación de glucosilceramida y glucosilesfingosina en todos los tejidos del cuerpo. Con el advenimiento de la terapia de reemplazo enzimático el pronóstico de los pacientes con EG ha mejorado notablemente. Sin embargo, las manifestaciones esqueléticas asociadas a la EG responden lentamente a la terapia de reemplazo enzimático y son las que contribuyen más significativamente a la morbilidad del paciente. Esta revisión de las manifestaciones óseas de la EG presenta las últimas teorías sobre la fisiopatología y una revisión sistemática de estudios de pacientes latinoamericanos que informaron la frecuencia de manifestaciones óseas y los efectos de la terapia de reemplazo enzimático en el tratamiento. Como conclusión, destacamos la importancia de la identificación temprana y del manejo adecuado de las dosis apropiadas de terapia de reemplazo enzimático para reducir la morbilidad causada por la EG.

Phase angle and World Health Organization criteria for the assessment of nutritional status in children with osteogenesis imperfecta. / Ângulo de fase e critérios da Organização Mundial de Saúde na avaliação do estado nutricional em crianças com osteogênese imperfeita.

OBJECTIVE: To compare the phase angle of patients with osteogenesis imperfecta treated at a tertiary university hospital with patients in a control group of healthy children, and to assess the nutritional status of these patients through the body mass index proposed by the World Health Organization. METHODS: Cross-sectional study carried out in a university hospital that included seven patients with osteogenesis imperfecta and a control group of 17 healthy children of the same gender and age. Weight and height were measured and bioelectrical impedance was performed. Subsequently, the phase angle was calculated based on resistance and reactance values. RESULTS: The phase angle of the group of children with osteogenesis imperfecta was significantly lower than that of the control group (p<0.05). The body mass index criterion for age of the World Health Organization showed no difference between groups. CONCLUSIONS: Children with osteogenesis imperfecta have a nutritional risk detected by the phase angle, which is a useful tool for nutritional screening. The calculation result could help in the diet therapy of patients with osteogenesis imperfecta.

Maple syrup urine disease in Brazil: a panorama of the last two decades / Doença da urina de xarope de bordo no Brasil: um panorama das últimas duas décadas

OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. RESULTS: Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57-7). Median age at onset of symptoms was 10 days (IQR 5-30), whereas median age at diagnosis was 60 days (IQR 29-240, p = 0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n = 12) and without (n = 71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. CONCLUSION: In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country. .

OBJETIVO: Caracterizar uma amostra de pacientes brasileiros com a doença da urina de xarope de bordo (DXB) diagnosticados entre 1992 e 2011. MÉTODOS: Os pacientes foram identificados por meio de um laboratório de referência nacional para o diagnóstico de DXB e por meio do contato com outros serviços de genética médica no Brasil. Os dados foram coletados por meio de uma revisão de prontuários. RESULTADOS: Foram incluídos no estudo 83 pacientes de 75 famílias (idade média: três anos; intervalo interquartil (IQR): 0,57-7). A idade média no surgimento dos sintomas era de 10 dias (IQR: 5-30), ao passo que a idade média no diagnóstico era de 60 dias (IQR: 29-240; p = 0,001). Somente três (3,6%) pacientes foram diagnosticados antes do surgimento de manifestações clínicas. Uma comparação entre pacientes com (n = 12) e sem (n = 71) um diagnóstico precoce mostra que o diagnóstico precoce está associado à presença de histórico familiar positivo e à redução na prevalência de manifestações clínicas no momento do diagnóstico, porém sem melhor resultado. Em geral, 98,8% dos pacientes têm algum atraso no desenvolvimento psicomotor ou neurológico. CONCLUSÃO: No Brasil, os pacientes com DXB normalmente recebem um diagnóstico tardio e exibem um envolvimento neurológico e baixa sobrevivência, mesmo com um diagnóstico precoce. Sugerimos que políticas públicas específicas para o diagnóstico e tratamento da DXB sejam desenvolvidas e implementadas no país. .

Maple syrup urine disease in Brazil: a panorama of the last two decades.

OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. RESULTS: Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57-7). Median age at onset of symptoms was 10 days (IQR 5-30), whereas median age at diagnosis was 60 days (IQR 29-240, p=0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n=12) and without (n=71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. CONCLUSION: In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country.

Dietary Intake, Anthropometric and Body Composition Assessment of Adolescents Enrolled in a Basic Health Unit in Ribeirão Preto, São Paulo, Brazil / Ingestão dietética, avaliação antropométrica e composição corporal de adolescentes atendidos em um Centro de Atenção Primária à Saúde em Ribeirão Preto, São Paulo, Brasil

Objectives: This study aimed to describe and compare the nutritional profile of three groups of adolescents of the same age and gender, diagnosed as overweight, obese and eutrophic as determined by the Body Mass Index (BMI). Materials and Methods: This is a cross-sectional, observational, comparative, and descriptive study in which adolescents were evaluated using anthropometric measurements suchas skinfolds, waist circumference, BMI and body composition assessed by bioelectric impedance. Asemi-quantitative questionnaire about eating frequency was applied to evaluate food intake. The sample was determined by convenience. A total of 517 adolescents were attended at the CMSCVL between October 2005 and December 2006. Of these, 141 (27.3%) agreed to participate and satisfied the inclusion criteria...

Objetivos: Este estudo teve como objetivo descrever e comparar o perfil nutricional de três grupos de adolescentes da mesma idade e sexo, com diagnóstico de sobrepeso, obesidade e eutrofia, determinado pelo Índice de Massa Corporal (IMC). Materiais e Métodos: Estudo transversal, observacional, comparativo, descritivo, no qual os adolescentes foram avaliados utilizando medidas antropométricas, tais como dobras cutâneas, circunferência da cintura, IMC e composição corporal avaliada pela impedância bioelétrica. Um questionário semi-quantitativo sobre a freqüência alimentar foi aplicado para avaliar a ingestão de alimentos. A amostra foi determinada por conveniência. Foram atendidos no CMSCVL, no período entre outubro de 2005 e dezembro de 2006, 517 adolescentes. Desse total, 141 (27,3%) concordaram em participar e estavam dentro dos critérios de inclusão...

[Newborn screening for galactosemia: a health economics evaluation]. / Avaliação econômica em saúde: triagem neonatal da galactosemia.

This study assesses the efficiency of the galactosemia add-on test in neonatal screening performed on regular Guthrie card blood spots. Based on estimated average incidence of galactosemia (1:19,984 newborns) in São Paulo State, Brazil, the study develops a cost-benefit analysis model, using a B/C ratio and a 9.25% annual interest rate in order to decapitalize the results. Sensitivity analysis is also performed, varying (as a function of the interest or discount rate) from 0 and 20% and according to the 95% confidence interval (1:7,494-1:59,953 newborns). The results show that the savings obtained by improved health of galactosemic patients detected early by add-on neonatal screening is superior to the costs (B/C=1.33), characterizing galactosemia add-on testing in neonatal screening as an efficient policy. The lower the prevailing interest rate in the economy, the more efficient the neonatal screening policy.