-866G/A and Ins/Del polymorphisms in UCP2 gene are associated with reduced short-term weight loss in patients who underwent Roux-en-Y gastric bypass.

BACKGROUND: Uncoupling protein 2 (UCP2) plays an important role in energy expenditure regulation. Previous studies have associated the common -866G/A (rs659366) and Ins/Del polymorphisms in the UCP2 gene with metabolic and obesity-related phenotypes. However, it is still unclear whether these polymorphisms influence weight loss after bariatric surgery. OBJECTIVES: To investigate whether UCP2 -866G/A and Ins/Del polymorphisms are associated with weight loss outcomes after bariatric surgery. SETTING: Longitudinal study in a university hospital. METHODS: We retrospectively evaluated 186 patients who underwent Roux-en-Y gastric bypass (RYGB) surgery for clinical and laboratory characteristics in the preoperative period, 6, 12, and 18 months after RYGB. The -866G/A (rs659366) polymorphism was genotyped using real-time PCR, while the Ins/Del polymorphism was genotyped by direct separation of PCR products in 2.5% agarose gels. RESULTS: Patients with the -866A/A genotype showed higher body mass index (BMI) after 6, 12, and 18 months of surgery and excess body weight after 6 and 12 months compared with G/G patients. They also showed lower excess weight loss (EWL%) after 6 and 12 months of surgery. Ins allele carriers (Ins/Ins + Ins/Del) had lower delta (Δ) BMI 12 months after surgery compared with Del/Del patients. Accordingly, patients carrying haplotypes with ≥2 risk alleles of these polymorphisms had higher BMI and excess weight and lower EWL% during follow-up. CONCLUSION: UCP2 -866A/A genotype is associated with higher BMI and excess weight and lower EWL% during an 18-month follow-up of patients who underwent RYGB, while the Ins allele seems to be associated with lower ΔBMI 12 months after surgery. Further studies are needed to confirm the associations of the -866G/A and Ins/Del polymorphisms with weight loss after bariatric surgery.

Patient-centered Management of Type 2 Diabetes Mellitus Based on Specific Clinical Scenarios: Systematic Review, Meta-analysis and Trial Sequential Analysis.

INTRODUCTION: New antihyperglycemic medications have been proven to have cardiovascular (CV) and renal benefits in type 2 diabetes mellitus (T2DM); however, an evidence-based decision tree in specific clinical scenarios is lacking. MATERIALS AND METHODS: Systematic review and meta-analysis of randomized controlled trials (RCTs), with trial sequential analysis (TSA). Randomized controlled trial inclusion criteria were patients with T2DM from 1 of these subgroups: elderly, obese, previous atherosclerotic CV disease (ASCVD), previous coronary heart disease (CHD), previous heart failure (HF), or previous chronic kidney disease (CKD). Randomized controlled trials describing those subgroups with at least 48 weeks of follow-up were included. Outcomes: 3-point major adverse cardiovascular events (MACE), CV death, hospitalization due to HF, and renal outcomes. We performed direct meta-analysis with the number of events in the intervention and control groups in each subset, and the relative risk of the events was calculated. RESULTS: Sodium-glucose cotransporter 2 inhibitors (SGLT2i) and glucagon-like peptide 1 receptor agonists (GLP-1 RA) were the only antihyperglycemic agents related to a reduction in CV events in different populations. For obese and elderly populations, GLP-1 RA were associated with benefits in 3-point MACE; for patients with ASCVD, both SGLT2i and GLP-1 RA had benefits in 3-point MACE, while for patients with CHD, only SGLT2i were beneficial. CONCLUSIONS: SGLT2i and GLP-1 RA reduced CV events in selected populations: SGLT2i led to a reduction in events in patients with previous CHD, ASCVD, and HF. GLP-1 RA led to a reduction in CV events in patients with ASCVD, elderly patients, and patients with obesity. Trial sequential analysis shows that these findings are conclusive. This review opens a pathway towards evidence-based, personalized treatment of T2DM. REGISTRATION: PROSPERO CRD42019132807.

Plasma progranulin levels in obese patients before and after Roux-en-Y gastric bariatric surgery: a longitudinal study.

BACKGROUND: Bariatric surgery stands out as the most effective long-term intervention for sustainable weight loss and metabolic improvement in patients with severe obesity. Progranulin was recently identified as an adipokine related to obesity and inflammation, revealing a metabolic function and proinflammatory properties. OBJECTIVE: To evaluate plasma progranulin levels before and after 6 months of bariatric surgery in Roux-en-Y gastric bypass (RYGB). SETTING: Tertiary referral hospital, southern Brazil. METHODS: This was a prospective longitudinal study, including 23 obese patients who underwent RYGB. Demographic and clinical characteristics, body composition, and resting energy expenditure were evaluated. Plasma progranulin was determined with enzyme-linked immunosorbent assays in a peripheral blood sample collected before and 6 months after the surgical procedure. RESULTS: The participants were mostly women (78.3%), with a mean age of 42.3 ± 10.8 years and baseline body mass index of 48.8 ± 10.4 kg/m2. Regarding the anthropometric parameters, there were differences in the pre- and post-RYGB values, with reduction of weight, body mass index, body fat percentage, and cervical and abdominal circumferences. All laboratory parameters improved, such as lipid profile and fasting glycemia, and resting energy expenditure values decreased significantly. Plasma progranulin levels decreased from 47.6 ± 13.5 ng/mL before RYGB to 40.4 ± 9.9 ng/mL after 6 months of surgery (P = .005). The reduction of progranulin did not correlate with body composition or laboratory data. CONCLUSIONS: Plasma progranulin levels significantly reduced 6 months after RYGB, but it could not be explained by changes in anthropometry, body composition, or glycemic or lipid profile.

UCP2, IL18, and miR-133a-3p are dysregulated in subcutaneous adipose tissue of patients with obesity.

The aim of this study was to compare the expression of UCP2, NLRP3, IL1B, IL18, and miR-133a-3p in subcutaneous adipose tissue (SAT) of 61 patients divided according to BMI: Group 1 (n = 8; BMI<25.0 kg/m2), Group 2 (n = 24; BMI 30.0-39.9 kg/m2), and Group 3 (n = 29; BMI≥40.0 kg/m2). SAT biopsies were obtained from individuals who underwent bariatric surgery or elective abdominal surgery. Gene expressions were quantified using qPCR. Bioinformatics analyses were employed to investigate target genes and pathways related to miR-133a-3p. UCP2 and miR-133a-3p expressions were decreased in SAT of Groups 2 and 3 while IL18 was increased compared to Group 1. NLRP3 and IL1B expressions did not differ between groups; however, NLRP3 was positively correlated with waist circumference and excess weight. Bioinformatics analysis demonstrated that UCP2 and NLRP3 are targets of miR-133a-3p. In conclusion, UCP2 and miR-133a-3p expressions are downregulated in patients with obesity, while IL18 is upregulated. NRLP3 is correlated with waist circumference and weight excess.

Self-perceived body image, dissatisfaction with body weight and nutritional status of Brazilian adolescents: a nationwide study / Auto-imagem corporal, insatisfação com o peso corporal e estado nutricional deadolescentes brasileiros: um estudo nacional

Abstract Objectives The purpose of this study was to evaluate the agreement and risk factors for underestimation and overestimation between nutritional status and self-perceived body image and to assess the prevalence and associated factors for dissatisfaction with body weight among Brazilian adolescents. Methods Students aged 12-17 years participating in the Study of Cardiovascular Risk in Adolescents ("ERICA"), a multicenter, cross-sectional, school-based country-wide study, were included (n = 71,740). Variables assessed as covariates were sex, age, skin color, socioeconomic status, and common mental disorders (screened by the General Health Questionnaire, GHQ-12). Multinomial logistic regression was used to explore the association between covariates and combinations between self-perceived body image and body mass index (agreement, underestimation and overestimation). The associations between dissatisfaction with body weight and exposure variables were investigated using multivariable Poisson regression models. Results Approximately 66% students rightly matched their body mass index with self-perceived weight (kappa coefficient was 0.38 for boys and 0.35 for girls). Agreement was higher among younger students and adolescents from low income households. Male sex, older age, and GHQ-12 score ≥3 were associated with weight overestimation. Prevalence of dissatisfaction with body weight was 45.0% (95% CI: 44.0-46.0), and higher among girls, older adolescents, those with underweight or overweight/obesity, as well as those who were physically inactive and with GHQ-12 ≥3. Conclusions Most of the sample rightly self-perceived their body image according to body mass index. Students with body image misperception and those dissatisfied with their weight were more likely to present a positive screening for common mental disorders.

Resumo Objetivos A finalidade deste estudo foi avaliar a concordância e os fatores de risco para subestimação e superestimação entre o estado nutricional e a autoimagem corporal e para avaliar a prevalência e os fatores associados à insatisfação com o peso corporal entre adolescentes brasileiros. Métodos Foram incluídos estudantes entre 12 e 17 anos que participavam do Estudo de Riscos Cardiovasculares em Adolescentes ("ERICA"), um estudo multicêntrico, transversal, nacional e de base escolar (n = 71.740). As variáveis analisadas como covariáveis foram sexo, idade, cor da pele, situação socioeconômica e transtornos mentais comuns (triados pelo Questionário de Saúde Geral, QSG-12). A regressão logística multinomial foi usada para explorar a associação entre as covariáveis e as combinações entre a autoimagem corporal e o índice de massa corporal (concordância, subestimação e superestimação). As associações entre a insatisfação com o peso corporal e as variáveis de exposição foram investigadas com os modelos multivariáveis de regressão de Poisson. Resultados Aproximadamente 66% dos estudantes associaram corretamente seu índice de massa corporal com o peso autopercebido (o coeficiente kappa foi 0,38 para meninos e 0,35 para meninas). A concordância foi maior entre jovens e adolescentes de baixa renda. Sexo masculino, adolescentes mais velhos e um escore QSG 12 ≥ 3 foram associados à superestimação do peso. A prevalência de insatisfação com o peso corporal foi 45,0% (IC de 95%: 44,0-46,0), maior entre meninas, adolescentes mais velhos, aqueles abaixo do peso ou com sobrepeso/obesidade, fisicamente inativos e com QSG-12 ≥ 3. Conclusões A maior parte da amostra associou corretamente sua imagem corporal de acordo com o índice de massa corporal. Estudantes com distorção da autoimagem corporal e aqueles insatisfeitos com seu peso foram mais propensos a apresentar rastreamento positivo para transtornos mentais comuns.

Self-perceived body image, dissatisfaction with body weight and nutritional status of Brazilian adolescents: a nationwide study.

OBJECTIVES: The purpose of this study was to evaluate the agreement and risk factors for underestimation and overestimation between nutritional status and self-perceived body image and to assess the prevalence and associated factors for dissatisfaction with body weight among Brazilian adolescents. METHODS: Students aged 12-17 years participating in the Study of Cardiovascular Risk in Adolescents ("ERICA"), a multicenter, cross-sectional, school-based country-wide study, were included (n=71,740). Variables assessed as covariates were sex, age, skin color, socioeconomic status, and common mental disorders (screened by the General Health Questionnaire, GHQ-12). Multinomial logistic regression was used to explore the association between covariates and combinations between self-perceived body image and body mass index (agreement, underestimation and overestimation). The associations between dissatisfaction with body weight and exposure variables were investigated using multivariable Poisson regression models. RESULTS: Approximately 66% students rightly matched their body mass index with self-perceived weight (kappa coefficient was 0.38 for boys and 0.35 for girls). Agreement was higher among younger students and adolescents from low income households. Male sex, older age, and GHQ-12 score ≥3 were associated with weight overestimation. Prevalence of dissatisfaction with body weight was 45.0% (95% CI: 44.0-46.0), and higher among girls, older adolescents, those with underweight or overweight/obesity, as well as those who were physically inactive and with GHQ-12 ≥3. CONCLUSIONS: Most of the sample rightly self-perceived their body image according to body mass index. Students with body image misperception and those dissatisfied with their weight were more likely to present a positive screening for common mental disorders.

Prevalence of adherence to pharmacological treatment in patients with type 2 diabetes mellitus

Introduction: Evidence in the literature indicates that patients with type 2 diabetes (T2D) have a very low level of adherence to pharmacological treatment and that despite several interventions to improve it, a number of obstacles to optimal care limit the extent to which such goals can be achieved. This study attemts to assess the sociodemographic profile of patients with T2D, and to identify the main reasons for nonadherence. Methods: This cross-sectional study evaluated patients with T2D for at least 6 months who are regularly followed at an endocrinology outpatient clinic or who have been admitted to a university hospital. Adherence was assessed by a modifed Morisky Green test and the Batalla test. Results: Ninety-six patients were included, mostly women (59%), white (76%), and with mean age of 52 ± 12 years. Only 49% of patients adhered to drug treatment according to the Batalla test, while 24% were classifed as high adherence, 41% as moderate adherence and 34% as low adherence to drug treatment according to the modifed Morisky Green test. Considering glycated hemoglobin levels as a reference method, only 37% of patients were within the currently recommended values, with higher adherence among women compared to men (44% vs. 23%, P = 0.044). Conclusions: The prevalence of adherence among patients with T2D was very low. Older age, insulin therapy and male sex were more strongly associated with worse adherence. The main barrier limiting treatment adherence was lack of motivation, especially due to difculties in adopting a healthy and balanced diet. (AU)

Whey Protein Supplementation Enhances Body Fat and Weight Loss in Women Long After Bariatric Surgery: a Randomized Controlled Trial.

BACKGROUND: The ideal nutritional approach for weight regain after bariatric surgery remains unclear. OBJECTIVE: The objective of this study is to assess the effect of whey protein supplementation on weight loss and body composition of women who regained weight 24 or more months after bariatric surgery. METHODS: This is a 16-week open-label, parallel-group, randomized controlled trial of women who regained at least 5 % of their lowest postoperative weight after a Roux-en-Y gastric bypass (RYGB). A total of 34 participants were treated with hypocaloric diet and randomized (1:1) to receive or not supplementation with whey protein, 0.5 g/kg of the ideal body weight. The primary outcomes were changes in body weight, fat free mass (FFM), and fat mass (FM), evaluated by tetrapolar bioelectrical impedance analysis (BIA). Secondary outcomes included resting energy expenditure, blood glucose, lipids, adiponectin, interleukin 6 (IL-6), and cholecystokinin levels. Statistical analyses included generalized estimating equations adjusted for age and physical activity. RESULTS: Fifteen patients in each group were evaluated: mean age was 45 ± 11 years, body mass index (BMI) was 35.7 ± 5.2 kg/m2, and time since surgery was 69 ± 23 months. Protein intake during follow-up increased by approximately 75 % in the intervention group (p = 0.01). The intervention group presented more body weight loss (1.86 kg, p = 0.017), accounted for FM loss (2.78, p = 0.021) and no change in FFM, as compared to controls (gain of 0.42 kg of body weight and 0.6 kg of FM). No differences in secondary outcomes were observed between groups. CONCLUSIONS: Whey protein supplementation promoted body weight and FM loss in women with long-term weight regain following RYGB.

Early reduction of resting energy expenditure and successful weight loss after Roux-en-Y gastric bypass.

BACKGROUND: Weight loss and body composition changes after Roux-en-Y gastric bypass (RYGB) may influence resting energy expenditure (REE). The effect of lower REE after the procedure on long-term weight remains to be elucidated. OBJECTIVE: To evaluate the effects of RYGB on REE and body composition 6 months after RYGB and to find out whether postsurgery REE affects weight at 12 and 18 months SETTING: Tertiary referral hospital, southern Brazil METHOD: A prospective study involving 30 RYGB patients aged>18 years was performed. Body composition was evaluated by X-ray absorptiometry and REE by indirect calorimetry. All patients were assessed before RYGB and 6 months postoperatively. Further analysis of weight was carried out at 12 and 18 months. RESULTS: Baseline body mass index was 49±9 kg/m² and mean weight was 128±19 kg, half of which comprised fat mass (50±5%). Baseline mean REE was 2297±182 kcal/d. The percent total weight loss was 26±7%, 32±9%, and 34±9% at 6, 12, and 18 months, respectively. The percent excess weight loss gradually increased from 54 ± 12% at 6 months, to 67 ± 18% at 12 months, and 71 ± 19% at 18 months. REE was significantly lower at follow-up (-405±108 kcal/d; P<.001). Furthermore, an inverse correlation between REE at 6 months and percent excess weight loss at 18 months (r =-.612; P = .035) was observed in the subgroup of patients whose REE decreased>405 kcal/d at 6 months. CONCLUSION: Patients undergoing RYGB who had a substantial drop in REE at 6 months may exhibit less long-term weight loss.

Determinants of body weight regulation in humans

ABSTRACT Body weight is regulated by the ability of hypothalamic neurons to orchestrate behavioral, endocrine and autonomic responses via afferent and efferent pathways to the brainstem and the periphery. Weight maintenance requires a balance between energy intake and energy expenditure. Although several components that participate in energy homeostasis have been identified, there is a need to know in more detail their actions as well as their interactions with environmental and psychosocial factors in the development of human obesity. In this review, we examine the role of systemic mediators such as leptin, ghrelin and insulin, which act in the central nervous system by activating or inhibiting neuropeptide Y, Agouti-related peptide protein, melanocortin, transcript related to cocaine and amphetamine, and others. As a result, modifications in energy homeostasis occur through regulation of appetite and energy expenditure. We also examine compensatory changes in the circulating levels of several peripheral hormones after diet-induced weight loss.

Low Gestational Weight Gain in Obese Women and Pregnancy Outcomes.

Obesity during pregnancy and excessive weight gain during this period are associated with several maternal-fetal and neonatal complications. Moreover, a significant percentage of women have weight retention in the postpartum period, especially those with excessive weight gain during pregnancy. The recommendations of the 2009 Institute of Medicine were based on observational studies that have consistently shown that women with weight gain within the recommended range had better outcomes during pregnancy. In patients with obesity, however, there is no recommendation for weight gain, according to the class of obesity. This review, therefore, aims to evaluate the evidence on key maternal and fetal complications related to low weight gain during pregnancy in obese and overweight patients.

Determinants of body weight regulation in humans.

Body weight is regulated by the ability of hypothalamic neurons to orchestrate behavioral, endocrine and autonomic responses via afferent and efferent pathways to the brainstem and the periphery. Weight maintenance requires a balance between energy intake and energy expenditure. Although several components that participate in energy homeostasis have been identified, there is a need to know in more detail their actions as well as their interactions with environmental and psychosocial factors in the development of human obesity. In this review, we examine the role of systemic mediators such as leptin, ghrelin and insulin, which act in the central nervous system by activating or inhibiting neuropeptide Y, Agouti-related peptide protein, melanocortin, transcript related to cocaine and amphetamine, and others. As a result, modifications in energy homeostasis occur through regulation of appetite and energy expenditure. We also examine compensatory changes in the circulating levels of several peripheral hormones after diet-induced weight loss.

O coração na obesidade: Mecanismos e consequências / Heart in obesity: Mechanism and consequences

A obesidade está associada a risco aumentado de doença cardiovascular, tanto pela associação a múltiplos fatores de risco que frequentemente a acompanham como pelos efeitos diretos do excesso de peso sobre a estrutura e a dinâmica cardíacas. A patogênese da disfunção miocárdica na obesidade é complexa e multifatorial. Alterações hemodinâmicas, neuro-humorais e no metabolismo dos substratos energéticos estão implicadas no desenvolvimento da miocardiopatia da obesidade. Acredita-se que as mudanças estruturais e funcionais no miócito cardíaco representem uma “má adaptação” às alterações metabólicas descritas na obesidade,levando à disfunção miocárdica progressiva e, finalmente, à insuficiência cardíaca. A perda de peso induz significativas mudanças tanto na estrutura miocárdica quanto na disfunção diastólica relacionada à obesidade. Abordagens farmacológicas que atuem sobre o remodelamento cardíaco, bloqueando a fibrogênese, tais como TGF-β1, espécies reativas de oxigênio ou endotelina-1, têm apresentado resultados promissores em estudos experimentais.

Obesity is associated with increased risk of cardiovascular disease, both by the presence of multiple well documente drisk factors that often accompany this condition, and the direct effects of excess of weight on cardiac structure and dynamics. The pathogenesis of myocardial dysfunction in obesity is complex and multifactorial. Neurohumoral, hemodynamic, and metabolism changes of energy substrates are implicated in the development of the cardiomyopathy of obesity. It is believed that the structural and functional changes in cardiac myocytes represent a “maladaptive”metabolic alteration described in obesity, leading to progressive heart failure and ultimately to myocardial dysfunction. Weight loss can induce significant changes inboth myocardial structure and diastolic dysfunction relatedto obesity. Pharmacological approaches that act on cardiac remodeling blocking fibrogenesis, such as TGF-β1, reactive oxygen species and endothelin-1, have shown promising results in experimental research.

Tuberculose infantil: estudo retrospectivo / Tuberculosis in childhood: retrospective study

Introdução: a tuberculose (TB) infantil permanece como uma das doenças mais prevalentes e preocupantes no mundo, sobretudo em nações em desenvolvimento, onde as taxas são ainda mais elevadas e os casos descritos subestimados pela dificuldade em se estabelecer um diagnóstico definitivo. Dessa forma, este estudo tem como objetivo descrever o perfil clínico e epidemiológico dos pacientes com TB infantil pulmonar e extrapulmonar.Métodos: foram avaliados retrospectivamente, através de questionário, pacientes com idade de até 15 anos, internados no Serviço de Pediatria do Hospital de Clínicas de Porto Alegre (HCPA), no período de janeiro de 2002 a setembro de 2007. Resultados: dos 52 pacientes incluídos, 63% apresentavam TB pulmonar. Das formas extra-pulmonares, a meningoencefalite foi a mais prevalente (22%). Comorbidades foram detectadas em 31 (60%) pacientes, dos quais 15 (29%) apresentavam desnutrição grave, 9 (18%) HIV positivo e 7 (13%) pneumopatia crônica. Das manifestações clínicas, febre e tosse estavam presentes na maioria dos pacientes. O padrão radiológico predominante foi o de consolidação pulmonar (51%). A maioria dos pacientes referia história de contato com paciente bacilífero (64%). Conclusão: a TB pulmonar representa a principal forma de apresentação clínica da TB, sendo o diagnóstico feito de forma presuntiva na maioria dos casos. Os resultados do nosso estudo reforçam a importância da anamnese (história epidemiológica e vacinal) e achados clínicos e radiológicos para o diagnóstico de TB infantil. Tendo em vista que a TB em crianças é considerada um “evento sentinela”, indicando recente transmissão a partir de um adulto infectado, além da maior gravidade da doença nesta população, torna-se imperativo uma maior ênfase na prevenção e diagnóstico precoces.

Background: tuberculosis (TB) in childhood remains one of the most prevalent and disturbing diseases worldwide. This is especially true in developing countries, where TB rates are even higher and the number of cases is underestimated because of the difficulty to establish definitive diagnosis. Aim: the present study was to describe the clinical and epidemiological profile of children with pulmonary and extrapulmonary TB. Methods: we used a questionnaire to retrospectively evaluate patients aged up to 15 years admitted to the Pediatric Unit of HCPA from January 2002 to September 2007. Results: of the 52 patients included in the study, 63% had pulmonary TB. Among the extrapulmonary forms, meningoencephalitis was the most prevalent (22%). Comorbidities were detected in 31 (60%) patients, and 15 (29%) of them had severe malnutrition, 9 (18%) were positive for HIV, and 7 (13%) had chronic lung disease. Among the clinical manifestations, fever and cough were present in most patients. The predominant radiological pattern was pulmonary consolidation (51%). Most patients reported a history of contact with contagious TB patients (64%). Conclusion: pulmonary TB is the main clinical presentation of TB, and most patients receive a presumptive diagnosis. Our results reinforce the importance of anamnesis (epidemiological and vaccination history) and clinical and radiological findings to establish the diagnosis of TB in childhood. Considering that TB in children is a “sentinel event”, indicating recent transmission from an infected adult, and because of the greater severity of the disease in this population, it is crucial to emphasize prevention and early diagnosis.

[ENPP1 K121Q polymorphism and ischemic heart disease in diabetic patients].

BACKGROUND: The ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene is a candidate gene for insulin resistance. Insulin resistance is a major component of metabolic syndrome (MetS) and has been implicated in ischemic heart disease (IHD). OBJECTIVE: To evaluate the association between the K121Q polymorphism of the ENPP1 gene and IHD in white patients with type 2 diabetes mellitus (DM). METHODS: A cross-sectional study was performed in type 2 DM patients (n = 573, 50.6% males, age 59.5+/-10.4 years). IHD was defined by the presence of angina or myocardial infarction according to the Worth Health Organization cardiovascular questionnaire and/or compatible electrocardiographic (Minnesota Code), or perfusional abnormalities in myocardial scintigraphy. The K121Q polymorphism of ENPP1 gene was genotyped using PCR-based methods and restriction enzyme digestion. RESULTS: IHD was present in 209 (36.5%) patients. The distribution of KK, KQ and QQ genotypes among patients with IHD was 60.8%, 34.4% and 4.8%, not different from the genotype distribution in the group without IHD (64%, 32.7% and 3.3%, P=0.574). No difference was found in the clinical and laboratory characteristics between the three genotypes, neither regarding the prevalence of Metabolic Syndrome. CONCLUSION: No association was found between polymorphism K121A of ENPP1 gene and the presence of IHD.

Polimorfismo K121Q do gene ENPP1 e cardiopatia isquêmica em pacientes com diabete melito / Polimorfismo K121Q del gen ENPP1 y cardiopatía isquémica en pacientes con diabetes melitus / ENPP1 K121Q polymorphism and ischemic heart disease in diabetic patients

FUNDAMENTO: O gene ecto-nucleotídeo pirofosfatase/fosfodiesterase 1 (ENPP1) é um gene candidato à resistência insulínica. A resistência à insulina é um componente importante da síndrome metabólica e tem sido implicada no desenvolvimento de doença cardíaca isquêmica (DCI). OBJETIVO: Avaliar a associação entre o polimorfismo K121Q do gene ENPP1 e a presença da DCI em pacientes caucasianos com diabete melito (DM) tipo 2. MÉTODOS: Estudo transversal foi realizado em pacientes com DM tipo 2 (n=573; 50,6 por cento homens; idade 59,5±10,4 anos). DCI foi definida pela presença de angina ou infarto agudo do miocárdio pelo questionário cardiovascular da Organização Mundial da Saúde e/ou alterações compatíveis no ECG (código Minnesota) ou cintilografia miocárdica. O polimorfismo K121Q foi genotipado através da técnica de PCR e digestão enzimática. RESULTADOS: DCI esteve presente em 209 (36,5 por cento) pacientes. A frequência dos genótipos KK, KQ e QQ entre os pacientes com DCI foi 60,8 por cento, 34,4 por cento e 4,8 por cento, semelhante à distribuição dos genótipos entre os pacientes sem DCI (64,0 por cento, 32,7 por cento e 3,3 por cento, P = 0,574). Não se observou diferença nas características clínicas ou laboratoriais entre os três genótipos, nem em relação à presença de síndrome metabólica. CONCLUSÃO: Nenhuma associação foi encontrada entre o polimorfismo K121A do gene ENPP1 e a presença de DCI ou características fenotípicas de resistência insulínica.

BACKGROUND: The ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene is a candidate gene for insulin resistance. Insulin resistance is a major component of metabolic syndrome (MetS) and has been implicated in ischemic heart disease (IHD). OBJECTIVE: To evaluate the association between the K121Q polymorphism of the ENPP1 gene and IHD in white patients with type 2 diabetes mellitus (DM). METHODS: A cross-sectional study was performed in type 2 DM patients (n = 573, 50.6 percent males, age 59.5±10.4 years). IHD was defined by the presence of angina or myocardial infarction according to the Worth Health Organization cardiovascular questionnaire and/or compatible electrocardiographic (Minnesota Code), or perfusional abnormalities in myocardial scintigraphy. The K121Q polymorphism of ENPP1 gene was genotyped using PCR-based methods and restriction enzyme digestion. RESULTS: IHD was present in 209 (36.5 percent) patients. The distribution of KK, KQ and QQ genotypes among patients with IHD was 60.8 percent, 34.4 percent and 4.8 percent, not different from the genotype distribution in the group without IHD (64 percent, 32.7 percent and 3.3 percent, P=0.574). No difference was found in the clinical and laboratory characteristics between the three genotypes, neither regarding the prevalence of Metabolic Syndrome. CONCLUSION: No association was found between polymorphism K121A of ENPP1 gene and the presence of IHD.

FUNDAMENTO: El gen ecto-nucleótido pirofosfatasa/fosfodiesterasa 1 (ENPP1) es un gen candidato a la resistencia insulínica. La resistencia a la insulina es un componente importante del síndrome metabólico y ha sido involucrada en el desarrollo de enfermedad cardiaca isquémica (ECI). OBJETIVO: Evaluar la asociación entre el polimorfismo K121Q del gen ENPP1 y la presencia de ECI en pacientes caucásicos con diabetes melitus (DM) tipo 2. MÉTODOS: SE Realizó un estudio transversal en pacientes con DM tipo 2 (n=573; 50,6 por ciento hombres; edad 59,5±10,4 años). Se definió la ECI por la presencia de angina o infarto agudo de miocardio mediante el cuestionario cardiovascular de la Organización Mundial de la Salud y/o alteraciones compatibles en el ECG (código Minnesota) o centellograma miocárdico. El polimorfismo K121Q fue genotipificado mediante la técnica de PCR y digestión enzimática. RESULTADOS: La ECI estuvo presente en 209 (36,5 por ciento) pacientes. La frecuencia de los genotipos KK, KQ y QQ entrel os pacientes con ECI fue del 60,8 por ciento, 34,4 por ciento y 4,8 por ciento, semejante a la distribución de los genotipos entre los pacientes sin ECI (64,0 por ciento, 32,7 por ciento y 3,3 por ciento, P = 0,574). No se observó diferencia en las características clínicas o de laboratorio entre los tres genotipos, ni en relación con la presencia de síndrome metabólico. CONCLUSIÓN: No se encontró ninguna asociación entre el polimorfismo K121A del gen ENPP1 y la presencia de ECI o características fenotípicas de resistencia insulínica.

Desnutrição calórico-proteica do tipo kwashiorkor desencadeada por alergia à proteína do leite de vaca / Kwashiorkor-type malnutrition due to cow's milk protein allergy

A enteropatia induzida por proteína alimentar, uma das formas de apresentação de hipersensibilidade alimentar, tem na alergia à proteína do leite de vaca a causa mais comum dessa síndrome. Ocorre comumente em lactentes, e o diagnóstico depende de uma anamnese minuciosa associada a uma resposta clínica favorável à retirada do antígeno. No presente relato, paciente do sexo feminino de 1 ano e 8 meses, interna para investigação de desnutrição calórico-proteica grave com história de vômitos, diarreia sanguinolenta e perda ponderal pronunciada a partir dos 8 meses de idade. Amamentação exclusiva no primeiro mês de vida e fórmula láctea do segundo ao quarto mês; desde então, com leite de vaca integral. Na admissão, chorosa, irritada, emagrecida, desidratada, cabelos despigmentados e quebradiços, em anasarca e com hepatomegalia. Exames laboratoriais revelaram anemia megaloblástica, leucocitose e hipoalbuminemia. Hipóteses diagnósticas: doença celíaca, fibrose cística e alergia à proteína do leite de vaca. Realizada endoscopia digestiva alta com biópsia: discreto aumento de eosinófilos na lâmina própria em mucosa gástrica e duodenal e esofagite crônica discreta com raros eosinófilos intraepiteliais. Teste do suor negativo. Estabelecido o diagnóstico de alergia à proteína do leite de vaca desencadeando um quadro de desnutrição calórico-proteica grave do tipo kwashiorkor e iniciada dieta com hidrolisado proteico. A alergia à proteína do leite de vaca é uma apresentação clínica frequente de alergia alimentar em lactentes e pré-escolares, sendo as repercussões gastrintestinais e nutricionais significativas nessa faixa etária. Dessa forma, o diagnóstico de alergia à proteína do leite de vaca deve ser considerado em pacientes com desnutrição calórico-proteica, uma vez que a desnutrição primária, por ingestão insuficiente, tenha sido excluída.

Dietary protein-induced enteropathy is one of the presentations of food allergy, and cow's milk protein allergy (CMPA) is its most common cause, frequently affecting infants. Diagnosis depends on thorough history associated with favorable clinical response to the antigen with drawal. This case report describes the case of a twenty-month-old female patient admitted to investigate protein-energy malnutrition (PEM) with severe vomiting, bloody diarrhea and significant weight loss since eight months of age. She was breastfed during the first month of life, receiving infant formula up to the fourth month and, since then, whole cow's milk. At admission, the patient was very irritable, crying, angry, dehydrated, with severe weight loss, brittle and depigmented hair, edema and hepatomegaly. Laboratory tests showed megaloblastic anemia, leukocytosis and hypoalbuminemia. Diagnostic hypotheses: celiac disease, cystic fibrosis and CMPA. Esophagogastroduodenoscopy with biopsy showed slight increase in intra-epithelial eosinophils in the duodenum and chronic mild esophagitis with rare eosinophil infiltrate. Sweat test was negative. Diagnosis of kwashiorkor-type malnutrition triggered by CMPA was made, and hydrolyzed protein diet was started with favorable clinical outcome. CMPA is a prevalent clinical presentation of food allergy in infants and preschool children, and nutritional consequences are also important in these age groups. Therefore, CMPA diagnosis should always be considered in patients with PEM, provided the primary malnutrition secondary to insufficient food intake is excluded.