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1.
Semina cienc. biol. saude ; 45(1): 199-210, jan./jun. 2024. tab; ilus
Article in Portuguese | LILACS | ID: biblio-1554831

ABSTRACT

Objetivo: investigar a percepção do peso corporal e as dificuldades encontradas pelas pessoas com deficiência visual na aquisição, na preparação e no consumo dos alimentos. Metodologia: estudo observacional transversal, com adultos e idosos com deficiência visual em Pelotas/RS, realizado no período de abril a maio de 2023. Foi utilizado um questionário composto de 42 itens. Os dados coletados foram analisados por análise descritiva e analítica, e apresentados como média ± desvio padrão ou percentual. Resultados: a amostra contou com 20 pessoas, predominantemente do sexo feminino e idosas. Em relação ao consumo alimentar, 50% dos participantes consomem feijão, 75% frutas e hortaliças, 50% bebidas adoçadas, biscoitos recheados e doces. Referente à percepção do peso corporal, percebeu-se que a maior parte do grupo sente que está acima do peso adequado e se sentem "insatisfeitos(as)". Sobre as dificuldades encontradas, 85% dos participantes relataram dificuldade extrema para identificar a validade dos alimentos, 70% para comprar alimentos frescos e perecíveis e 40% para usar a faca para cortar e descascar os alimentos. Conclusão: verificou-se que a maior parte do grupo sente que está acima do peso adequado e estão "insatisfeitos(as)" em relação ao peso corporal. Além disso, dependem de outra pessoa para escolher os alimentos a serem comprados, saber o prazo de validade, preparar alimentos que precisam ser porcionados, servir refeições no prato, cortar carnes, descascar vegetais e frutas, utilizar faca, entre outros. Esta dependência pode influenciar diretamente no seu consumo alimentar quando essas pessoas se encontram sozinhas, optando por consumir alimentos industrializados de fácil preparo ou prontos.


Objective: to investigate the perception of body weight and the difficulties encountered by people with visual impairments in acquiring, preparing and consuming food. Methodology: cross-sectional observational study, with adults and elderly people with visual impairment in Pelotas/RS, carried out from April to May 2023. A questionnaire composed of 42 items was used. The collected data were analyzed using descriptive and analytical analysis, and presented as mean ± standard deviation or percentage. Results: the sample included 20 people, predominantly female and elderly. Regarding food consumption, 50% of participants consume beans, 75% fruits and vegetables, 50% sweetened drinks, stuffed cookies and sweets. Regarding the perception of body weight, it was noticed that the majority of the group feels that they are overweight and feel "dissatisfied". Regarding the difficulties encountered, 85% of participants reported extreme difficulty in identifying the expiration date of food, 70% in purchasing fresh and perishable foods and 40% in using a knife to cut and peel food. Conclusion: it was found that the majority of the group feels that they are overweight and are "dissatisfied" with their body weight. Furthermore, they depend on someone else to choose the food to be purchased, know the expiration date, prepare food that needs to be portioned, serve meals on the plate, cut meat, peel vegetables and fruits, use a knife, among others. This dependence can directly influence their food consumption when these people are alone, choosing to consume easily prepared or ready-made processed foods.


Subject(s)
Humans , Male , Female
2.
Cien Saude Colet ; 27(7): 2753-2762, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35730844

ABSTRACT

Red cell distribution width (RDW) is a measure of erythrocyte size variability. Recent studies have shown that RDW is a predictive, and prognostic marker of mortality and cardiovascular (CVD) events in the general population and in CVD patients. This study aimed to investigate the association between RDW and CVD risk in a large sample of adults. A subsample of CVD free participants of the ELSA-Brasil cohort were included (n=4,481). In the cross-sectional approach, multiple regression analysis was used to investigate the association between RDW and the Framingham Risk Score (FRS). Linear mixed effect model evaluated whether baseline RDW predicted changes in CVD risk after about four-year follow up. Cross-sectional analysis showed that RDW was independently associated with FRS, participants in the fourth-quartile of RDW distribution had a 29% higher FRS than those in the first-quartile RDW (p<0.001). A longitudinal analysis revealed that RDW remained associated with increased FRS. In this large cohort of adult Brazilians, RDW was independently associated with increased CVD risk, as measured by the FRS, both at baseline and after four-year follow-up. However, RDW did not predict change in CVD risk in this short-term follow up.


Subject(s)
Cardiovascular Diseases , Erythrocyte Indices , Adult , Cardiovascular Diseases/epidemiology , Cohort Studies , Heart Disease Risk Factors , Humans , Risk Factors
3.
Ciênc. Saúde Colet. (Impr.) ; 27(7): 2753-2762, 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1384434

ABSTRACT

Abstract Red cell distribution width (RDW) is a measure of erythrocyte size variability. Recent studies have shown that RDW is a predictive, and prognostic marker of mortality and cardiovascular (CVD) events in the general population and in CVD patients. This study aimed to investigate the association between RDW and CVD risk in a large sample of adults. A subsample of CVD free participants of the ELSA-Brasil cohort were included (n=4,481). In the cross-sectional approach, multiple regression analysis was used to investigate the association between RDW and the Framingham Risk Score (FRS). Linear mixed effect model evaluated whether baseline RDW predicted changes in CVD risk after about four-year follow up. Cross-sectional analysis showed that RDW was independently associated with FRS, participants in the fourth-quartile of RDW distribution had a 29% higher FRS than those in the first-quartile RDW (p<0.001). A longitudinal analysis revealed that RDW remained associated with increased FRS. In this large cohort of adult Brazilians, RDW was independently associated with increased CVD risk, as measured by the FRS, both at baseline and after four-year follow-up. However, RDW did not predict change in CVD risk in this short-term follow up.


Resumo Estudos recentes têm mostrado que o RDW (do inglês Red Cell Distribution Width) é um marcador preditivo e prognóstico de mortalidade e eventos cardiovasculares (DCV) na população geral e em pacientes com DCV. Este estudo teve como objetivo investigar a associação entre RDW e risco de DCV em uma grande amostra de adultos. Foram incluídas uma subamostra de participantes sem DCV da coorte ELSA-Brasil (n=4.481). Na abordagem transversal, a análise de regressão múltipla foi usada para investigar a associação entre o RDW e o Escore de Risco de Framingham (ERF). O modelo linear de efeito misto foi usado para avaliar se o RDW basal previa mudanças no risco de DCV após cerca de quatro anos de acompanhamento. A análise transversal mostrou que o RDW foi independentemente associado ao ERF, os participantes no quarto quartil da distribuição do RDW tiveram um ERF 29% maior do que aqueles no primeiro quartil RDW (p<0,001). Na análise longitudinal, o RDW permaneceu associado ao aumento do ERF. Nesta grande coorte de adultos brasileiros, o RDW foi independentemente associado ao aumento do risco de DCV, medido pelo ERF, tanto no início quanto após quatro anos de acompanhamento. No entanto, RDW não previu mudança no risco de DCV neste seguimento de curto prazo.

4.
Environ Health ; 19(1): 105, 2020 10 12.
Article in English | MEDLINE | ID: mdl-33046063

ABSTRACT

BACKGROUND: Persistent organic pollutants (POPs) may cause diabetes, in part through aryl hydrocarbon receptor (AhR) binding. Ensuing mitochondrial dysfunction is postulated to mediate this effect. We aim to investigate the association of POPs with incident diabetes indirectly by bio-assaying AhR ligand bioactivity and intracellular ATP level induced by participant serum samples. METHODS: In incident case-cohort analyses of one ELSA-Brasil center, 1605 eligible subjects without diabetes at baseline had incident diabetes ascertained by self-report, medication use, OGTT or HbA1c at follow-up 4 years later. We assayed AhR ligand bioactivity (AhRL) and intracellular ATP content, the latter reflecting the presence of mitochondria-inhibiting substances (MIS), following incubation of recombinant mouse Hepa1c1c7 cells with participant sera for 71 incident diabetes cases and 472 randomly selected controls. RESULTS: In multiply-adjusted proportional hazards regression analyses, those with above-median AhRL and below-median MIS-ATP had 69 and 226% greater risk of developing diabetes (HR = 1.69; 95%CI 1.01-2.83 and 3.26; 1.84-5.78), respectively. A strong interaction was seen between the two exposures (HRhigh AhRL/low MIS-ATP vs. low AhRL/high MIS-ATP = 8.15; 2.86-23.2). CONCLUSION: The markedly increased incidence of diabetes seen in those with both higher AhR ligand bioactivity and increased mitochondrial inhibition supports the hypothesis that widespread POPs exposure contributes to the diabetes epidemic.


Subject(s)
Diabetes Mellitus, Type 2/epidemiology , Receptors, Aryl Hydrocarbon/metabolism , Adenosine Triphosphate/metabolism , Adult , Animals , Cell Line , Diabetes Mellitus, Type 2/blood , Diabetes Mellitus, Type 2/metabolism , Environmental Pollutants/adverse effects , Female , Glycated Hemoglobin/analysis , Humans , Incidence , Ligands , Longitudinal Studies , Male , Mice , Middle Aged , Self Report
5.
Lancet Diabetes Endocrinol ; 7(4): 267-277, 2019 04.
Article in English | MEDLINE | ID: mdl-30803929

ABSTRACT

BACKGROUND: The burden of diabetes is increasing worldwide and diabetes can be prevented with intervention in people with impaired glucose tolerance (IGT). Intermediate hyperglycaemia defined without an oral glucose tolerance test as impaired fasting glucose (IFG) and high HbA1c are also used to characterise risk. We aimed to assess the prognostic properties of five definitions of intermediate hyperglycaemia (also known as prediabetes) on the basis of their ability to predict who will progress to diabetes. METHODS: The Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) is an occupational cohort study of active or retired civil servants, aged 35-74 years, recruited from public universities and research institutes in six state capital cities in Brazil. We excluded participants who provided insufficient information to ascertain diabetes status, those without information on relevant covariates, and those with diabetes. We classified type 2 diabetes on the basis of self-report, medication use, measures of fasting plasma glucose (FPG), 2 h plasma glucose, and HbA1c. We used five laboratory definitions of intermediate hyperglycaemia: IGT (2 h plasma glucose ≥7·8 mmol/L [≥140 mg/dL]); IFG based on American Diabetes Association (ADA) criteria (FPG ≥5·5 mmol/L [≥100 mg/dL]); IFG based on WHO criteria (FPG ≥6·1 mmol/L [≥110 mg/dL]); HbA1c based on ADA criteria (HbA1c ≥39 mmol/mol [5·7%]); and HbA1c based on International Expert Committee criteria, IEC-HbA1c, (HbA1c ≥42 mmol/mol [6·0%]). We estimated risk of each definition using Cox regression and overall predictability (area under the receiver operating characteristic curve [AUC]) using logistic regression. FINDINGS: We recruited 15 105 participants from Aug 18, 2008, to Dec 20, 2010, and followed up for a mean of 3·7 (SD 0·63) years. Diabetes incidence rate was 2·0 per 100 person-years (95% CI 1·8-2·1). Among the 11 199 eligible participants, 6563 (59%) presented with some form of intermediate hyperglycaemia. ADA-IFG (4870/11 199 [43·5%), IEC-HbA1c (1005 [9·0%]), and ADA-HbA1c (2299 [20·5%]) poorly predicted diabetes (3·5-3·6 per 100 person-years). WHO-IFG (1140 [10·2%]) and IGT (2245 [20·0%]) predicted greater conversion (7·5 per 100 person-years and 5·8 per 100 person-years, respectively). All definitions presented either low sensitivity or specificity. Combinations of tests improved prognostic properties, with the combination of IGT or WHO-IFG showing the best, but still insufficient, predictability (sensitivity 67·7%, 95% CI 64·5-70·1; specificity 77·9%, 77·1-78·7). The AUC for the three underlying glycaemic tests was 65·0% (95% CI 63·0-66·9) for HbA1c, 74·6% (72·7-76·4) for FPG, and 77·1% (75·4-78·8) for 2 h plasma glucose, whereas the AUC for a score composed of clinical information was 71·6% (69·8-73·3). When this score was combined with results of an oral glucose tolerance test, the AUC reached 82·4% (80·9-83·9). INTERPRETATION: IFG based on WHO criteria and IGT predict diabetes progression better than do the other three definitions of intermediate hyperglycaemia, but their sensitivity is low. IFG based on ADA criteria has better sensitivity than the others, but classifies almost half of adults as having intermediate hyperglycaemia and poorly predicts diabetes. Combining glycaemic results with clinical information improves prognostic properties of those at risk. FUNDING: The Brazilian Ministry of Health (Science and Technology Department), the Brazilian Ministry of Science, Technology and Innovation (Financiadora de Estudos e Projetos and Conselho Nacional de Desenvolvimento Científico e Tecnológico), and the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior-Brasil (CAPES).


Subject(s)
Biomarkers/analysis , Diabetes Mellitus, Type 2/pathology , Glucose Intolerance/pathology , Hyperglycemia/physiopathology , Occupational Diseases/pathology , Adult , Aged , Blood Glucose/analysis , Brazil/epidemiology , Diabetes Mellitus, Type 2/epidemiology , Disease Progression , Female , Follow-Up Studies , Glucose Intolerance/epidemiology , Glycated Hemoglobin/analysis , Humans , Incidence , Longitudinal Studies , Male , Middle Aged , Occupational Diseases/epidemiology , Prognosis , Prospective Studies
6.
Atherosclerosis ; 274: 243-250, 2018 07.
Article in English | MEDLINE | ID: mdl-29729963

ABSTRACT

BACKGROUND AND AIMS: Non-high-density lipoprotein cholesterol (non-HDL-C) goals are defined as 30 mg/dL (0.78 mmol/L) higher than the respective low-density lipoprotein cholesterol (LDL-C) goals. This definition, however, do not consider the population distribution of non-HDL-C, which could represent a more appropriate individual goal when both markers are discordant. The aim of this study is to establish non-HDL-C goals at the same population percentiles of LDL-C. METHODS: Non-HDL-C values were assigned at the same percentiles correspondent to the LDL-C treatment goals for 14,837 participants from the Longitudinal Study of Adult Health (ELSA-Brasil) with triglycerides levels ≤ 400 mg/dL (4.52 mmol/L). We also assessed the frequency of reclassification, defined as the number of subjects with LDL-C levels in the recommended therapeutic category, but with non-HDL-C levels above or below the category. RESULTS: The non-HDL-C values, based on correspondent LDL-C population percentiles, were 92 (2.38), 122 (3.16), 156 (4.04), 191 (4.95), and 223 mg/dL (5.78 mmol/L). Among participants with LDL-C <70 mg/dL (1.81 mmol/L), 22.8% were reclassified in a higher category according to the guidelines-based non-HDL-C cut-off and 30.1% according to the population percentile-based cut-off; 25.6% and 64.1%, respectively, if triglycerides concurrently 150-199 mg/dL (1.69-2.25 mmol/L). CONCLUSIONS: Our results demonstrated that non-HDL-C percentiles-based goals were up to 8 mg/dL (0.21 mmol/L) lower than the guidelines recommended goal and had a profound impact on the reclassification of participants, notably when LDL-C was <100 mg/dL (2.56 mmol/L), the treatment goal for high risk patients. Therefore, non-HDL-C goals should be changed for reduction of residual risk.


Subject(s)
Anticholesteremic Agents/therapeutic use , Cholesterol, LDL/blood , Dyslipidemias/drug therapy , Adult , Aged , Biomarkers/blood , Brazil/epidemiology , Clinical Decision-Making , Comorbidity , Dyslipidemias/blood , Dyslipidemias/diagnosis , Dyslipidemias/epidemiology , Female , Health Status , Humans , Longitudinal Studies , Male , Middle Aged , Practice Guidelines as Topic , Risk Assessment , Risk Factors , Treatment Outcome
7.
BMC Pregnancy Childbirth ; 16: 68, 2016 Mar 30.
Article in English | MEDLINE | ID: mdl-27029489

ABSTRACT

BACKGROUND: Gestational diabetes mellitus (GDM), a hyperglycemic state detected during pregnancy, is an established risk factor for diabetes. However, treatment during pregnancy in and of itself is not able to eliminate this risk, and a considerable fraction of women with GDM will develop frank diabetes in the decade following pregnancy. Our aim is to conduct a multicenter randomized controlled trial to investigate the effectiveness of a lifestyle intervention program implemented after a pregnancy complicated by GDM in delaying or preventing the development of type 2 diabetes. METHODS: Women aged 18 or older identified as having recent GDM are recruited and followed by telephone to assess eligibility for the trial. To be eligible, women must have used insulin during pregnancy or present intermediate hyperglycemia postpartum. Women are encouraged to enter the trial as early as 10 weeks, and are permitted to do so up to 2 years after a pregnancy with GDM. An estimated 740 women will be randomized to either conventional care or to coach-based interventions focused on breastfeeding, weight loss, healthy eating, and increased physical activity, and predominantly delivered by telephone. Women are followed annually to detect new onset diabetes, the primary outcome, and additional secondary outcomes which include reversion to normoglycemia, weight loss, physical activity and fitness, and insulin resistance. DISCUSSION: Though previous studies have demonstrated that type 2 diabetes can be delayed or prevented, no study has yet demonstrated the feasibility and effectiveness of similar interventions implemented in the postpartum period for women with recent GDM. If shown to be successful, this approach could become an important means of preventing diabetes in primary care settings. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02327286; Registered 23 December 2014.


Subject(s)
Diabetes Mellitus, Type 2/prevention & control , Life Style , Postpartum Period , Program Evaluation/methods , Adult , Brazil , Diabetes Mellitus, Type 2/etiology , Diabetes, Gestational/pathology , Female , Humans , Pregnancy , Research Design , Risk Factors , Young Adult
8.
Cien Saude Colet ; 20(11): 3309-18, 2015 Nov.
Article in Portuguese | MEDLINE | ID: mdl-26602709

ABSTRACT

The scope of this article is to describe the quality of the diet of adolescents according to sociodemographic and behavioral factors. It involved a cross-sectional study with 3,959 eighteen-year-old adolescents belonging to the birth cohort of 1993 in Pelotas in the State of Rio Grande do Sul, Brazil. Dietary intake was assessed using a semi quantitative Food Frequency Questionnaire with a recall period of 12 months. The diet quality was assessed using the Diet Quality Index Revised (DQI-R). This index ranges from 0 to 100 points and the higher the score, the better the diet quality. The overall DQI-R mean score was 62.4 points (DP). The lowest rates were observed for dark green and orange vegetables (3.0), total vegetables (3.4) and dairy products (3.6). Non-Caucasian adolescents (63.1), from families in which the heads of the household had less schooling (63.6) and belonging to the lowest quintile of the asset index (64.7) had higher average scores in the DQI-R. Lower averages were found among adolescents who smoked (58.5) and who consumed alcoholic beverages (56.0). This study showed that diet quality of the adolescents assessed deserve attention, especially with regard to the intake of vegetables, milk and dairy products.


Subject(s)
Adolescent Behavior , Diet , Adolescent , Alcohol Drinking , Brazil , Cross-Sectional Studies , Feeding Behavior , Female , Humans , Male , Vegetables
9.
Ciênc. Saúde Colet. (Impr.) ; 20(11): 3309-3318, Nov. 2015. graf
Article in Portuguese | LILACS | ID: lil-766408

ABSTRACT

O objetivo deste artigo é descrever a qualidade da dieta de adolescentes segundo fatores sociodemográficos e comportamentais. Estudo transversal com 3.959 adolescentes de dezoito anos de idade, pertencentes à coorte de nascimentos de 1993, de Pelotas, Rio Grande do Sul, Brasil. O consumo alimentar foi avaliado através de um Questionário de Frequência Alimentar semiquantitativo, com período recordatório de 12 meses. A qualidade da dieta foi avaliada através do Índice de Qualidade da Dieta Revisado (IQD-R). Este índice varia de 0 a 100 pontos e quanto maior a pontuação, melhor a qualidade da dieta. A média geral do escore do IQD-R foi de 62,4 pontos (DP 12). Adolescentes com cor da pele não branca (63,1), provenientes de familias cujos chefes tinham menor escolaridade (63,6) e pertencentes ao menor quintil do índice de bens (64,7) apresentaram maiores médias no escore do IQD-R. Menores médias foram encontradas entre adolescentes que fumavam (58,5) e que consumiam bebida alcoólica (56,0). Este estudo mostrou que a qualidade da dieta dos adolescentes avaliados merece atenção, especialmente no que se refere à ingestão de vegetais, leites e derivados.


The scope of this article is to describe the quality of the diet of adolescents according to sociodemographic and behavioral factors. It involved a cross-sectional study with 3,959 eighteen-year-old adolescents belonging to the birth cohort of 1993 in Pelotas in the State of Rio Grande do Sul, Brazil. Dietary intake was assessed using a semi quantitative Food Frequency Questionnaire with a recall period of 12 months. The diet quality was assessed using the Diet Quality Index Revised (DQI-R). This index ranges from 0 to 100 points and the higher the score, the better the diet quality. The overall DQI-R mean score was 62.4 points (DP). The lowest rates were observed for dark green and orange vegetables (3.0), total vegetables (3.4) and dairy products (3.6). Non-Caucasian adolescents (63.1), from families in which the heads of the household had less schooling (63.6) and belonging to the lowest quintile of the asset index (64.7) had higher average scores in the DQI-R. Lower averages were found among adolescents who smoked (58.5) and who consumed alcoholic beverages (56.0). This study showed that diet quality of the adolescents assessed deserve attention, especially with regard to the intake of vegetables, milk and dairy products.


Subject(s)
Humans , Male , Female , Adolescent , Adolescent Behavior , Diet , Vegetables , Brazil , Alcohol Drinking , Cross-Sectional Studies , Feeding Behavior
10.
Cardiovasc Diabetol ; 14: 21, 2015 Feb 13.
Article in English | MEDLINE | ID: mdl-25855488

ABSTRACT

OBJECTIVE: To assess glucose and triglyceride excursions 2 hours after the ingestion of a standardized meal and their associations with clinical characteristics and cardiovascular complications in individuals with diabetes. RESEARCH DESIGN AND METHODS: Blood samples of 898 subjects with diabetes were collected at fasting and 2 hours after a meal containing 455 kcal, 14 g of saturated fat and 47 g of carbohydrates. Self-reported morbidity, socio-demographic characteristics and clinical measures were obtained by interview and exams performed at the baseline visit of the ELSA-Brasil cohort study. RESULTS: Median (interquartile range, IQR) for fasting glucose was 150.5 (123-198) mg/dL and for fasting triglycerides 140 (103-199) mg/dL. The median excursion for glucose was 45 (15-76) mg/dL and for triglycerides 26 (11-45) mg/dL. In multiple linear regression, a greater glucose excursion was associated with higher glycated hemoglobin (10.7, 95% CI 9.1-12.3 mg/dL), duration of diabetes (4.5; 2.6-6.4 mg/dL, per 5 year increase), insulin use (44.4; 31.7-57.1 mg/dL), and age (6.1; 2.5-9.6 mg/dL, per 10 year increase); and with lower body mass index (-5.6; -8.4- -2.8 mg/dL, per 5 kg/m2 increase). In adjusted logistic regression models, a greater glucose excursion was marginally associated with the presence of cardiovascular comorbidities (coronary heart disease, myocardial infarction and angina) in those with obesity. CONCLUSIONS: A greater postprandial glycemic response to a small meal was positively associated with indicators of a decreased capacity for insulin secretion and negatively associated with obesity. No pattern of response was observed with a greater postprandial triglyceride excursion.


Subject(s)
Blood Glucose/metabolism , Diabetes Mellitus, Type 2/blood , Meals/physiology , Postprandial Period/physiology , Triglycerides/blood , Aged , Brazil/epidemiology , Cohort Studies , Cross-Sectional Studies , Diabetes Mellitus, Type 2/diagnosis , Diabetes Mellitus, Type 2/epidemiology , Female , Humans , Longitudinal Studies , Male , Middle Aged
11.
Gene ; 536(2): 344-7, 2014 Feb 25.
Article in English | MEDLINE | ID: mdl-24342658

ABSTRACT

This study aimed to determine the enzymatic activity in dried blood samples collected on filter paper (DBS) for the diagnosis of the following diseases: Fabry, Pompe, Mucopolysaccharidosis type I (MPS I) and Mucopolysaccharosis type VI (MPS VI). DBS was used for high risk patientscreening, according to clinical suspicion. Plasma, leukocytes and cultured fibroblasts were used to confirm the diagnosis when necessary. Among the 529 DBS samples sent to the laboratory, 164 had abnormal results. Confirmatory materials of 73 individuals were rerouted. The frequency of diagnosis for lysosomal storage disorders was 5.9%. DBS is an alternative screening technique used in high risk populations, which should lead to earlier diagnosis for lysosomal storage disorders (LSDs), help patients get treatment sooner and improve the outcome of the disease.


Subject(s)
Hydrolases/metabolism , Lysosomal Storage Diseases/diagnosis , Lysosomes/enzymology , Lysosomes/metabolism , Blood Specimen Collection , Female , Humans , Lysosomal Storage Diseases/enzymology , Lysosomal Storage Diseases/metabolism , Male , Mass Screening/methods
12.
Rev Saude Publica ; 47 Suppl 2: 63-71, 2013 Jun.
Article in Portuguese | MEDLINE | ID: mdl-24346722

ABSTRACT

The ELSA (Estudo Longitudinal de Saúde do Adulto - Brazilian Longitudinal Study for Adult Health) is a multicenter cohort study which aims at the identification of risk factors associated with type 2 diabetes and cardiovascular diseases in the Brazilian population. The paper describes the strategies for the collection, processing, transportation, and quality control of blood and urine tests in the ELSA. The study decided to centralize the tests at one single laboratory. The processing of the samples was performed at the local laboratories, reducing the weight of the material to be transported, and diminishing the costs of transportation to the central laboratory at the Universidade de São Paulo Hospital. The study included tests for the evaluation of diabetes, insulin resistance, dyslipidemia, electrolyte abnormalities, thyroid hormones, uric acid, hepatic enzyme abnormalities, inflammation, and total blood cell count. In addition, leukocyte DNA, urine, plasma and serum samples were stored. The central laboratory performed approximately 375,000 tests.


Subject(s)
Laboratories/organization & administration , Specimen Handling/methods , Transportation/methods , Adult , Brazil , Cardiovascular Diseases/diagnosis , Diabetes Mellitus, Type 2/diagnosis , Humans , Longitudinal Studies , Multicenter Studies as Topic
13.
Rev Saude Publica ; 47 Suppl 2: 72-8, 2013 Jun.
Article in Portuguese | MEDLINE | ID: mdl-24346723

ABSTRACT

The Brazilian Longitudinal Study for Adult Health (ELSA-Brasil) is a multicenter prospective cohort of civil servants designed to assess the determinants of chronic diseases, especially cardiovascular diseases and type 2 diabetes. The present article describes the main design and implementation points of the ELSA-Brasil biobank project. Economic, political, logistical and technological aspects of this study are characterized. Additionally, it discusses the final biorepository protocol and the facilities implemented to achieve this objective. The design and implementation process of the ELSA-Brasil biobank took three years to be performed. Both the central and local biobanks were built according to the best biorepository techniques, using different technological solutions for the distinct needs expected in this study.


Subject(s)
Biological Specimen Banks/organization & administration , Cardiovascular Diseases/diagnosis , Diabetes Mellitus/diagnosis , Adult , Biological Specimen Banks/standards , Brazil , Chronic Disease , Epidemiologic Research Design , Humans , Multicenter Studies as Topic , Prospective Studies
14.
Rev. saúde pública ; 47(supl.2): 72-78, jun. 2013. tab, graf
Article in Portuguese | LILACS | ID: lil-688065

ABSTRACT

O Estudo Longitudinal de Saúde do Adulto (ELSA-Brasil) é uma coorte prospectiva multicêntrica de funcionários públicos delineada para avaliar os determinantes das doenças crônicas, principalmente a doença cardiovascular e o diabetes tipo 2. Neste artigo são descritos os principais pontos do delineamento e implementação do projeto do biobanco do ELSA-Brasil. São detalhados aspectos econômicos, políticos, logísticos e tecnológicos do estudo. O artigo também discute o protocolo final de estocagem de material biológico e as instalações implementadas para atingir esse objetivo. O processo de delineamento e implementação do biobanco do ELSA-Brasil durou três anos. Tanto os biobancos centrais quanto os locais foram constituídos de acordo com as melhores práticas de estocagem de material biológico, usando soluções tecnológicas diferentes para as diferentes necessidades previstas no estudo.


The Brazilian Longitudinal Study for Adult Health (ELSA-Brasil) is a multicenter prospective cohort of civil servants designed to assess the determinants of chronic diseases, especially cardiovascular diseases and type 2 diabetes. The present article describes the main design and implementation points of the ELSA-Brasil biobank project. Economic, political, logistical and technological aspects of this study are characterized. Additionally, it discusses the final biorepository protocol and the facilities implemented to achieve this objective. The design and implementation process of the ELSA-Brasil biobank took three years to be performed. Both the central and local biobanks were built according to the best biorepository techniques, using different technological solutions for the distinct needs expected in this study.


Subject(s)
Adult , Humans , Biological Specimen Banks/organization & administration , Cardiovascular Diseases/diagnosis , Diabetes Mellitus/diagnosis , Biological Specimen Banks/standards , Brazil , Chronic Disease , Epidemiologic Research Design , Multicenter Studies as Topic , Prospective Studies
15.
Rev. saúde pública ; 47(supl.2): 63-71, jun. 2013. tab
Article in Portuguese | LILACS | ID: lil-688072

ABSTRACT

O Estudo Longitudinal de Saúde do Adulto (ELSA-Brasil) é um estudo de coorte multicêntrico com o objetivo de identificar os fatores de risco associados ao diabetes tipo 2 e à doença cardiovascular na população brasileira. O artigo descreve as estratégias de coleta, processamento, transporte e de controle de qualidade dos exames de sangue e urina no ELSA. O estudo optou pela centralização dos exames em um único laboratório. O processamento das amostras foi realizado nos laboratórios locais, reduzindo o peso do material a ser transportado e diminuindo os custos do transporte para o laboratório central no Hospital da Universidade de São Paulo. O estudo incluiu exames para avaliação de diabetes, resistência à insulina, dislipidemias, alterações eletrolíticas, hormônios tireoidianos, ácido úrico, alterações de enzimas hepáticas, inflamação e hemograma completo. Além desses exames, foram estocados DNA de leucócitos, amostras de urina, plasma e soro. O laboratório central realizou aproximadamente 375.000 exames.


The ELSA (Estudo Longitudinal de Saúde do Adulto - Brazilian Longitudinal Study for Adult Health) is a multicenter cohort study which aims at the identification of risk factors associated with type 2 diabetes and cardiovascular diseases in the Brazilian population. The paper describes the strategies for the collection, processing, transportation, and quality control of blood and urine tests in the ELSA. The study decided to centralize the tests at one single laboratory. The processing of the samples was performed at the local laboratories, reducing the weight of the material to be transported, and diminishing the costs of transportation to the central laboratory at the Universidade de São Paulo Hospital. The study included tests for the evaluation of diabetes, insulin resistance, dyslipidemia, electrolyte abnormalities, thyroid hormones, uric acid, hepatic enzyme abnormalities, inflammation, and total blood cell count. In addition, leukocyte DNA, urine, plasma and serum samples were stored. The central laboratory performed approximately 375,000 tests.


Subject(s)
Adult , Humans , Laboratories/organization & administration , Specimen Handling/methods , Transportation/methods , Brazil , Cardiovascular Diseases/diagnosis , /diagnosis , Longitudinal Studies , Multicenter Studies as Topic
16.
Gene ; 508(2): 197-8, 2012 Oct 25.
Article in English | MEDLINE | ID: mdl-22884741

ABSTRACT

This study investigates the miniaturization of the screening technique using dried blood spots on filter paper (DBS) to measure GBA and CT activities, and GBA and ß-galactosidase activities in leukocytes. 274 DBS from individuals with suspected GD were screened for 1.5 years. Of these, we confirmed the diagnosis in 13.5%. The miniaturization of the DBS and leukocyte techniques afforded to reduce costs and sample size appropriate for a reliable diagnosis.


Subject(s)
Biological Assay , Gaucher Disease/blood , Gaucher Disease/diagnosis , Hexosaminidases/blood , Leukocytes/metabolism , Mass Screening , beta-Galactosidase/blood , Blood Specimen Collection , Brazil , Case-Control Studies , Humans
17.
Clin Biochem ; 44(10-11): 922-6, 2011 Jul.
Article in English | MEDLINE | ID: mdl-21531218

ABSTRACT

OBJECTIVES: To analyze the effect of blood collection and storage conditions on activity of α-galactosidase A, arylsulfatase B and α-glucosidase. DESIGN AND METHODS: Blood was collected in EDTA, heparin, or direct spotting on filter paper and stored at different temperatures (-20, 4, 25 and 37°C) and storage times (3, 10, 17 and 180 days). The influence of filter paper size was also assessed (3.0 and 1.2mm). RESULTS: No statistically significant difference was observed between the three collection methods. α-Glucosidase A activity significantly decreased after the 10th day, while arylsulfatase B activity only differed significantly after the 180th day, and α-galactosidase A activity remained constant throughout this storage time. Excellent correlation coefficients were observed for the two filter paper sizes used. CONCLUSIONS: Both paper sizes may be employed. Filter paper specimens should be transported under refrigeration as soon as possible after blood collection.


Subject(s)
Blood Specimen Collection/methods , Filtration , N-Acetylgalactosamine-4-Sulfatase/blood , Paper , alpha-Galactosidase/blood , alpha-Glucosidases/blood , Humans , Temperature , Time Factors
18.
Clin Chem Lab Med ; 49(8): 1299-1302, 2011 Aug.
Article in English | MEDLINE | ID: mdl-21574888

ABSTRACT

BACKGROUND: Dried blood spots (DBS) on filter paper is a valuable sampling technique in clinical chemistry, but the stability of enzymes used in the diagnosis of lysosomal storage diseases (LSDs) needs to be evaluated. METHODS: In a first experiment, blood from 20 subjects was collected using a syringe without additives and distributed into EDTA tubes, heparin tubes, and spotted on filter paper for the comparison of sampling effects. In a second experiment, blood from 30 healthy subjects was spotted on filter paper and analyzed for ß-galactosidase and total hexosaminidase activities after storage of the samples at different temperatures for up to 180 days. RESULTS: Initially, we observed that enzyme activities were the same, independent of the collection method. When DBS was stored at 37°C the activity of ß-galactosidase dropped to 85% of the initial value after 180 days (p<0.05). At all other temperatures (-20°C, 4°C and 25°C), the results were within the methodological error. Total hexosaminidase activity did not change significantly during the entire study period and at different storage temperatures. CONCLUSIONS: The two enzymes investigated in the present study may be stored for up to 17 days (ß-galactosidase) or 180 days (total hexosaminidase) until analysis without loss of activity.


Subject(s)
Blood Specimen Collection/methods , Temperature , beta-Galactosidase/metabolism , beta-N-Acetylhexosaminidases/metabolism , Blood Specimen Collection/instrumentation , Humans , Lysosomal Storage Diseases/blood , Lysosomal Storage Diseases/enzymology , Paper , Time Factors , beta-Galactosidase/blood , beta-N-Acetylhexosaminidases/blood
19.
Am J Med Genet A ; 119A(3): 348-51, 2003 Jun 15.
Article in English | MEDLINE | ID: mdl-12784303

ABSTRACT

Lysosomal storage disorders (LSD) present great clinical variability. Included in this group are sialic acid metabolism disorders (SAMD). In the present study, we describe the application of a 3-step protocol for the diagnosis of SAMD, including (1). oligosaccharide and sialyloligosaccharide chromatography; (2). quantitative determination of sialic acid; and (3). measurement of neuraminidase activity. Application of our protocol to 124 individuals at risk for SAMD led to the diagnosis of five affected patients, two with type I sialidosis, one with type II sialidosis, and two with galactosialidosis. Due to its simplicity and efficiency, we propose the use of this protocol for the diagnostic evaluation of patients with suspected SAMD, which could be specially useful to non-specialized laboratories and to services located in developing countries.


Subject(s)
Lysosomal Storage Diseases/diagnosis , Oligosaccharides/urine , Sialic Acids/metabolism , Adolescent , Brazil , Child , Child, Preschool , Clinical Protocols , Humans , Infant, Newborn , Lysosomal Storage Diseases/urine , Neuraminidase/deficiency , Oligosaccharides/chemistry , Risk Factors , Sialic Acids/urine , beta-Galactosidase/metabolism
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