Obesidade e genética

O artigo revisa as metodologias de abordagem clínica e de pesquisa sobre obesidade, os estudos sobre herança da obesidade, as formas mendelianas de obesidade não sindrômica, as formas poligênicas da obesidade comum e as variações genômicas estruturais na obesidade

Obesity and genetics

O artigo revisa as metodologias de abordagem clínica e de pesquisa sobre obesidade, os estudos sobre herança da obesidade, as formas mendelianas de obesidade não sindrômica, as formas poligênicas da obesidade comum e as variações genômicas estruturais na obesidade.The article reviews the methodological approaches and clinical research on obesity, the studies about inheritance of obesity, Mendelian forms of nonsyndromic obesity, poligenic forms of common obesity and the structural genomic variations in obesity

Methylation of BDNF and SLC6A4 gene promoters in Brazilian patients with temporal lobe epilepsy presenting or not psychiatric comorbidities

The relationship between epilepsy and psychiatric comorbidities has been recognized for centuries, but its pathophysiological mechanisms are still misunderstood. It is biologically plausible that genetic or epigenetic variations in genes that codify important neurotransmitters involved in epilepsy as well as in psychiatric disorders may influence the development of the latter in patients with epilepsy. However, this possibility remains poorly investigated. The aim of this study was to evaluate the methylation profile of the BDNF and SLC6A4, two genes importantly involved in neuroplasticity, in patients with temporal lobe epilepsy (TLE) regarding the development or not of psychiatric comorbidities. One hundred and thirty-nine patients with TLE, 90 females and 45 males, were included in the study. The mean age of patients was 44.0 (+12.0) years, and mean duration of epilepsy was 25.7 (+13.3) years. The Structured Clinical Interview for DSM-IV shows that 83 patients (59.7%) had neuropsychiatric disorders and 56 (40.3%) showed no psychiatric comorbidity. Mood disorders were the most common psychiatric disorder observed, being present in 64 (46.0%) of all 139 patients. Thirtythree (23.7%) patients showed anxiety disorders, 10 (7.2%) patients showed history of psychosis and 8 (5.8%) patients showed history of alcohol//drug abuse. Considering all 139 patients, 18 (12.9%) demonstrated methylation of the promoter region of both BDNF and SLC6A4 genes. A significant decreased methylation profile was observed only in TLE patients with mood disorders when compared with TLE patients without a history of mood disorders (O.R. = 3.45; 95% C.I. = 1.08–11.11; p = 0.04). A subanalysis showed that TLE patients with major depressive disorder mostly account for this result (O.R. = 7.20; 95% C.I. = 1.01–56.16; p = 0.042). A logistic regression analysis showed that the independent factors associated with a history of depression in our TLE patients was female sex (O.R. = 2.30; 95% C.I. = 1.02–5.18; p = 0.044), not controlled seizures (O.R. = 2.51; 95% C.I. = 1.16–5.41; p = 0.019) and decreased methylation in BDNF and SLC6A4 genes (O.R. = 5.32; 95% C.I. = 1.14–25.00; p = 0.033). Our results suggest that BDNF or SLC6A4 genes profile methylation is independently associated with depressive disorders in patients with epilepsy. Further studies are necessary to clarify these matters

Breast milk leptin concentrations and infant anthropometric indicators in SGA versus non-SGA breastfed infants born at term

Leptin concentrations in breast milk can influence metabolic programming during the first months of life. Small for gestational age (SGA) newborns show a peculiar growth pattern after birth, which can lead to adulthood diseases. This study aims to assess an association between leptin concentration in mature breast milk and the infant anthropometric indicators of the SGA and the non-SGA groups, in addition, to comparing the hormone level between these groups. A longitudinal study was performed with mother-infant pairs. The maternal sociodemographic information was collected in the first 48 h postpartum. Breast milk was collected at one month postpartum and leptin concentrations were obtained by immunoassays. The infant anthropometric measurements were collected at three and six months postpartum and included weight, height (to body mass index-BMI calculated), triceps skinfold (TSF), and subscapular skinfold (SSF). The BMI for age (BMI/A), TSF, and SSF were calculated by Z-score indicators. Data from 67 mother-infant pairs (n = 16 SGA and n = 51 non-SGA) were analyzed. In univariate analyses, the breast milk of the SGA group had lower leptin concentrations than the non-SGA group (p = 0.006), however, after adjustment, there was no difference between groups (p = 0.181). In the SGA group, there was a significant association between leptin concentrations and lower SSF at six months in infants, after adjustment (p = 0.003). In the non-SGA group, the breast milk leptin was associated with lower BMI/A at three and six months in infants, after adjustment (p = 0.002 and p = 0.010, respectively). The association between breast milk leptin concentrations with SSF in the SGA group and BMI/A in the non-SGA group suggests that leptin may be a modulating factor in infant growth in the first months of life

Impact of perinatal different intrauterine environments on child growth and development : planning and baseline data for a cohort study

Background: Several studies have shown that exposure of the fetus and newborn to prenatal and perinatal events, respectively, may influence the health outcomes of the child throughout their life cycle. Objective: This study aimed to increase the knowledge on the impact of different intrauterine environments on child growth and development, as we know that pregnancy and early years are a window of opportunity for health promotion and prevention interventions of diseases. Methods: The recruitment occurred 24 to 48 hours after delivery and involved mothers and their newborns in 2 public hospitals in Porto Alegre, Brazil, from December 2011 to January 2016. The mothers-newborns dyads were allocated to 5 groups: diabetes mellitus, mothers with a clinical diagnosis of diabetes; systemic arterial hypertension (SAH), mothers with a clinical diagnosis of systematic arterial hypertensive disease during pregnancy; maternal smoking, mothers who smoked at any moment of gestation; small for gestational age (SGA), mothers with SGA newborns because of intrauterine growth restriction; and control, mothers without the clinical characteristics previously mentioned. Several protocols and anthropometric measurements were applied in the interviews at immediate postpartum and 7 and 15 days and 1, 3, and 6 months after birth. For this study, we analyzed only data collected during postpartum interviews. The statistical analyses were performed using Pearson chi-square test, Mann-Whitney test, or Kruskal-Wallis test with Dunn post hoc. The significance level was set at 5%. The Hospital Ethics and Research Committees approved the study. Results: Of the 485 eligible mothers-newborns dyads, 400 agreed to participate (82.5%, 400/485). As expected, newborns from the SGA group had significantly lower birth weight, smaller stature, and lower cephalic perimeter (P<.001). This group also had the highest percentage of primiparous women in comparison with other groups (P=.005) except for control. Mothers from the SAH group had the highest mean age, the highest percentage of cesarean sections, and presented greater gestational weight gain. Conclusions: In this study, we describe the planning and structure for the systematic follow-up of mother-newborn dyads in the first 6 months after birth, considering the important demographic and epidemiological transition scenario in Brazil. The results of this prospective longitudinal study may provide a better understanding of the causal mechanisms involved in health and life course disease related to different adverse intrauterine environments

Implementation of the asparaginase activity assessment technique for clinical use : experience of a Brazilian Center

Acute lymphoid leukemia is a childhood cancer that in high‑income countries has event‑free survival rates of 80% and global survival rates of 90%. In Brazil these rates are under 70%. This difference may be due to the implementation of supportive care, including the assessment of asparaginase (ASNase) activity. ASNase may cause hypersensitivity reactions and silent drug inactivation. For this reason, ASNase activity monitoring is an essential tool to ensure an effective treatment. Our aim was to implement an ASNase activity measurement technique at a hospital setting. samples from children who were given Escherichia coli‑derived ASNase were collected. The results of the analyses conducted in our laboratory Hospital de Clínicas de Porto Alegre were compared to those of two institutions: Centro Infantil Boldrini and University of Munster. 262 samples were assessed. The results of the first analyses were compared with those obtained at Centro Infantil Boldrini and showed an ICC of 0.954. Thirty samples were sent to the University of Munster and presented an ICC was 0.960. Our results, when compared to those of national and international centers, showed an excellent agreement. The study was able to implement an ASNase activity test to monitor the treatment

Serum proinflammatory cytokines and nutritional status in pediatric chronic liver disease

AIM: To evaluate the nutritional status and its association with proinflammatory cytokines in children with chronic liver disease. METHODS: We performed a cross-sectional study with 43 children and adolescents, aged 0 to 17 years, diagnosed with chronic liver disease. All patients regularly attended the Pediatric Hepatology Unit and were under nutritional follow up. The exclusion criteria were fever from any etiology at the time of enrollment, inborn errors of the metabolism and any chronic illness. The severity of liver disease was assessed by Child-Pugh, Model for End-stage Liver Disease (MELD) and Pediatric End Stage Liver Disease (PELD) scores. Anthropometric parameters were height/age, body mass index/age and triceps skinfold/age according to World Health Organization standards. The cutoff points for nutritional status were risk of malnutrition (Z-score < -1.00) and malnutrition (Z-score < -2.00). Interleukin-1β (IL-1β), IL-6 and tumor necrosis factor-α levels were assessed by commercial ELISA kits. For multivariate analysis, linear regression was applied to assess the association between cytokine levels, disease severity and nutritional status RESULTS: The median (25th-75th centile) age of the study population was 60 (17-116)-mo-old, and 53.5% were female. Biliary atresia was the main cause of chronic liver disease (72%). With respect to Child-Pugh score, cirrhotic patients were distributed as follows: 57.1% Child-Pugh A, a mild presentation of the disease, 34.3% Child-Pugh B, a moderate stage of cirrhosis and 8.6% Child-Pugh C, were considered severe cases. PELD and MELD scores were only above the cutoff point in 5 cases. IL-6 values were increased in patients at nutritional risk (34.9%) compared with those who were well-nourished [7.12 (0.58-34.23) pg/mL vs 1.63 (0.53-3.43) pg/mL; P = 0.02], correlating inversely with triceps skinfold-for-age z-score (rs = -0.61; P < 0.001). IL-6 levels were associated with liver disease severity assessed by Child-Pugh score (P = 0.001). This association remained significant after adjusting for nutritional status in a linear regression model. CONCLUSION: High IL-6 levels were found in children with chronic liver disease at nutritional risk. Inflammatory activity may be related to nutritional status deterioration in these patients