Cileide Cunha Moulin

Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review.

BackgroundGaucher disease (GD) type I is the most common type of GD. Its main clinical manifestations are hepatosplenomegaly as well as bone and hematological abnormalities. The objective of the present study was to perform a literature review on the growth and metabolism of GD type I patients.MethodsWe searched Pubmed and Scielo.br databases with predetermined study limits: case series (n≥5), clinical trials, systematic reviews, and meta-analyses, and enzyme replacement therapy (ERT) with alglucerase or imiglucerase. The outcomes of interest were the following: growth and development, weight, height, malnutrition, overweight, obesity, basal metabolism, hypermetabolism, insulin resistance, and diabetes. A total of 175 articles were found, of which 28 met the inclusion criteria; these articles were grouped into three central themes: 1) growth of children and adolescents before and after ERT; 2) metabolic changes that remained during ERT; and 3) changes in metabolic status resulting from the treatment.Results and discussionThe articles included in the present literature review are very heterogeneous, which hinders the analysis of data. They indicated that GD patients usually show low weight and height before ERT, which are improved with treatment in children and adolescents. Studies evaluating the energy metabolism by indirect calorimetry have indicated that the disease is associated with hypermetabolism. In adults, some changes in energy metabolism remain on ERT, and alterations, such as insulin resistance, seem to be associated with the treatment. It is not clear which are the required doses of imiglucerase for obtaining an adequate cost-effective relation, as well as the advisable therapeutic measures to avoid possible long-term adverse effects related to ERT.ConclusionsERT tends to normalise the growth of children and adolescents with GD type I, it seems to cause a partial response in relation to some metabolic changes associated with the disease, and it can causes metabolic changes such as weight gain in adult patients. Therefore, additional research is necessary.

Formação para nutricionistas que atuam no Programa Nacional de Alimentação Escolar: uma avaliação da efetividade

This article seeks to verify the effectiveness of training for nutritionists conducted by the Cooperation Center for Student Food and Nutrition of the Federal University of Rio Grande do Sul (CECANES UFRGS), between 2007 and 2009. The focus of the evaluation was to observe the perception of those subjects with regard to achieving the objectives of the training and the potential of the training topics covered in the training in order to change the day-to-day work of the Brazilian School Nutrition Program (PNEA). Methodology developed by the CECANES UFRGS team was used for the evaluation of effectiveness. Data collection was conducted with 118 nutritionists who work in school nutrition in the state of Rio Grande do Sul by filling out an electronic questionnaire specifically designed for this study. In the analysis of the results it was revealed that the training fulfilled its objectives (P < 0.05), making the assignments and what is expected of the professionals at PNAE clear to more than 95% of the nutritionists. When the participants were asked about the obstacles encountered, they reported difficulty in adapting the theory covered in the training with the reality in which they act. The themes addressed contributed to the promotion of changes in the implementation of management practices in the PNAE.

Gaucher disease type I: Assessment of basal metabolic rate in patients from southern Brazil

INTRODUCTION Gaucher disease (GD) is characterized by clinical heterogeneity and is associated with metabolic abnormalities such as increased resting energy expenditure. OBJECTIVES To assess the basal metabolic rate (BMR) of patients with GD type I followed at the Gaucher Disease Reference Center of Rio Grande do Sul, Brazil. PATIENTS AND METHODS Fourteen patients (male=6) and 14 healthy controls matched by gender, age and body mass index (BMI) were included in the study. The nutritional status of patients was assessed by BMI. The BMR was measured by indirect calorimetry. In two patients, it was possible to perform BMR in the pre- and the post-treatment periods. RESULTS Mean age and BMI of patients and controls were, respectively, 32.8 ± 17.6 and 32.1 ± 16.6 years and 23.3 ± 3.1 and 22.4 ± 3.1 kg/m(2). Twelve patients were receiving enzyme replacement therapy (ERT) with imiglucerase (mean duration of treatment=5.2 ± 4.3 years; mean dosage of imiglucerase=24.2 ± 7.3 UI/kg/inf). Five patients (36%) were overweight, and nine (64%) were normal weight. Mean BMR of patients on ERT was 27.1% higher than that of controls (p=0.007). There was no difference between the BMR of patients on ERT and not on ERT (n=4) (p=0.92). Comparing the BMR of patients on ERT and their controls with the BMR estimated by the Harris-Benedict equation, the BMR of patients was 6.3% higher than the estimated (p = 0.1), while the BMR of their controls was 17.0% lower than the estimated (p = 0.001). CONCLUSION Most treated GD type I patients were normal weight. The patients including those on ERT showed higher BMR when compared to controls. Imiglucerase is probably unable to normalize the hypermetabolism presented by GD type I patients. Additional studies should be performed to confirm our findings.

Ghrelin, leptin and adiponectin levels in Gaucher disease type I patients on enzyme replacement therapy

BACKGROUND Gaucher disease type I (GD type I) is characterized by clinical heterogeneity and is associated with metabolic abnormalities such as increased basal metabolic rate. OBJECTIVE To evaluate ghrelin, leptin and adiponectin levels in patients with GD type I on enzyme replacement therapy (ERT). SUBJECTS AND METHODS A cross-sectional study of patients with GD type I (n = 15), matched for sex, age and BMI with healthy controls. The levels of glucose, insulin, ghrelin, leptin and adiponectin were assessed in both groups. Insulin resistance was defined by the index HOMA-IR. RESULTS Eight patients had adequate weight, seven were overweight (4 preobese, 3 obese class I). Eight patients presented metabolic syndrome, five of whom with insulin resistance. The median levels of ghrelin, leptin and adiponectin of the patients did not differ from those of the controls. Ghrelin and adiponectin levels were correlated with each other; inversely correlated with BMI, waist circumference and triglyceride levels; and directly correlated with HDL-cholesterol. Leptin levels were inversely correlated with LDL-cholesterol and directly correlated with BMI, waist circumference, enzyme dosage, triglycerides, insulin, and HOMA-IR. CONCLUSIONS Metabolic syndrome and overweight appear to be common in patients with GD type I on ERT. As leptin was strongly associated with insulin and HOMA index, it could become a biomarker to assess early evidence of insulin resistance in patients with GD. Further studies are needed to investigate the associations found.