Polymorphisms rs2010963 and rs833061 of the VEGF gene in polycystic ovary syndrome

SUMMARY OBJECTIVE: The polycystic ovary syndrome is the most common endocrine disorder, characterized by the dysregulation of ovarian angiogenesis. This alteration can be related to changes in the activities of the vascular endothelial growth factor (VEGF) gene. Single-nucleotide polymorphisms have been observed in the promoter, intronic, and untranslated regions of the VEGF gene, and several studies have suggested that these polymorphisms may be associated with the risk of polycystic ovary syndrome. This study aimed to investigate the association between rs2010963 and rs833061 polymorphisms and haplotypes of VEGF in the etiology of polycystic ovary syndrome. METHODS: A total of 210 women, 102 diagnosed with polycystic ovary syndrome and 108 controls, participated in this study. The genotyping of the samples was performed by PCR-RFLP and real-time PCR for rs2010963 and rs833061 polymorphisms, respectively. The statistical analyses were performed by the chi-square test and logistic regression model. RESULTS: The clinical characteristics of the patients showed that 75.8% of the patients did not become pregnant, 36.3% had a family history of polycystic ovary syndrome, 58.6% were obese, and about 60% had clinical characteristics of hyperandrogenism. There were no associations between the distribution of rs2010963 (OR 1.24; 95%CI 0.60-2.57; p=0.56) and rs833061 (OR 0.78; 95%CI 0.32-1.92; p=0.59) in patients and controls. CONCLUSIONS: The patients with polycystic ovary syndrome have similar rates of VEGF polymorphisms rs2010963 and rs833061 on the general population.

Can the genetic polymorphisms of the folate metabolism have an influence in the polycystic ovary syndrome?

ABSTRACT Objective To investigate the association of the genetic variants of the folate metabolism genes (MTHFR C677T; MTHFR A1298C; MTR A2756G; MTRR A66G and RFC-1 A80G) with the development of polycystic ovary syndrome (PCOS). Subjects and methods This study included 203 women (99 women with PCOS and 104 controls). The genotyping was performed by PCR-RFLP. Chi-squared test and multiple logistic regression were used in the statistical analysis. Haplotype analysis was conducted using the SNPstat program. The results were presented in odds ratio (OR) and confidence interval of 95% (CI-95%), with a significance level of 5% (p ≤ 0.05). Results The genotypic distribution of the RFC-1 A80G polymorphism showed significant difference between the two groups, showing that the heterozygous genotype (AG genotype) was most frequent in controls. The polymorphic homozygous (GG genotype) of MTRR A66G polymorphism were most frequent in controls. The T-C haplotype MTHFR C677T and A1298C polymorphisms were more frequent in the control group (OR = 0.19; CI 95% — 0.04 to 0.93 e p = 0.042). The multivariate analysis evidenced that family history of PCOS was more frequent in the PCOS group (OR = 3.29; CI 95% — 1.48 to 7.31; p = 0.003). Conclusion In our casuistry, the polymorphic homozygous of MTRR A66G polymorphism gene and heterozygous of RFC-1 A80G polymorphism gene, the haplotype T-C C677T and A1298C polymorphisms of MTHFR gene, can be associated with protective factors for the disease.

Low levels of dehydroepiandrosterone sulfate are associated with the risk of developing cardiac autonomic dysfunction in elderly subjects

ABSTRACT Objective: To assess the relationships between serum dehydroepiandrosterone sulfate (DHEA-S) levels and heart rate variability (HRV) among different age groups. Subjects and methods: Forty-five healthy men were divided into 3 groups: young age (YA; 20-39 yrs; n = 15), middle age (MA; 40-59 yrs; n = 15) and old age (OA; ≥ 60 yrs; n = 15). Hemodynamic parameters, linear analyses of HRV and concentrations of cortisol and DHEA-S were measured at rest. Results: The OA group presented a higher resting heart rate (84.3 ± 4.6 bpm) than the YA group (72.0 ± 4.4 bpm; p < 0.05). The YA group showed an attenuated variance of HRV (2235.1 ± 417.9 ms2) compared to the MA (1014.3 ± 265.2 ms2; p < 0.05) and OA (896.3 ± 274.1 ms2; p < 0.05) groups, respectively. The parasympathetic modulation of HRV was lower in both the MA (244.2 ± 58.0 ms2) and OA (172.8 ± 37.9 ms2) groups in comparison with the YA group (996.0 ± 255.4 ms2; p < 0.05), while serum DHEA-S levels were significantly lower in both the MA (91.2 ± 19.6 mg/dL) and OA (54.2 ± 17.7 mg/dL) groups compared to the YA group (240.0 ± 50.8 mg/dL; p < 0.05). A positive correlation between lower serum concentrations of DHEA-S and attenuated variance of HRV (r = 0.47, p = 0.031), as well as lower serum concentrations of DHEA-S and decreased parasympathetic modulation of HRV (r = 0.54, p = 0.010), were found. Conclusion: The present study demonstrated that the decline of plasma DHEA-S is associated with reduced cardiac autonomic modulation during the aging process.

Metabolic and hormonal assessment of adolescent and young adult women with prior premature adrenarche

OBJECTIVE: Follow-up studies of girls with premature adrenarche have reported the development of polycystic ovary syndrome, insulin resistance, and dyslipidemia and a propensity to cardiovascular disease. The aim of this study was to analyze the presence of these conditions in patients previously treated at the Universidade Federal do Triângulo Mineiro. METHODS: A total of 130 medical records reported premature adrenarche. One hundred and twenty-two patients were invited to participate, of whom 54 accepted; 34 patients were selected, as they had reached their final height. Anthropometric, blood glucose, insulin, and lipid and hormonal profile (LH, FSH, estradiol, 17α-OH-progesterone, androstenedione, dehydroepiandrosterone sulfate, testosterone) data were obtained, the HOMA-IR index was calculated, and pelvic ultrasonography was performed. To characterize polycystic ovary syndrome and metabolic syndrome, the Rotterdam and International Diabetes Federation criteria, respectively, were used. Data were analyzed according to measures of dispersion, frequency and correlations of interest. RESULTS: The age of the participants ranged from 15.2 to 28.2 years/months; 23.5% of the patients were overweight, 11.8% were obese, 29.4% had a large waist circumference, and 8.8% were hypertensive. None of the patients had altered glucose levels, and insulin levels and HOMA-IR were elevated in 29.4% and 38.2% of the participants, respectively; 14.7% of the patients exhibited acanthosis nigricans. The lipid profiles of the participants were variable, and one patient (2.9%) had metabolic syndrome. Polycystic ovary syndrome was found in 41.2% of patients. CONCLUSION: The percentage of patients with polycystic ovary syndrome who also had overweight, obesity and insulin resistance corroborates the literature data about the need for follow-up aiming at interventions, especially for conditions associated with cardiometabolic risk.

Polycystic ovarian syndrome: rs1799752 polymorphism of ACE gene

SUMMARY PURPOSE: To investigate the contribution of the deletion polymorphism and insertion (rs1799752) of the angiotensin converting enzyme (ACE) gene in the aetiology of Polycystic Ovarian Syndrome (PCOS). METHODOLOGY: 97 women diagnosed with PCOS who received care at the Gynaecology and Obstetrics clinic of the Hospital das Clínicas of UFTM, participated in this study. The control group consisted of 94 women. All participants were submitted to the collection of 10 mL of whole blood and the genomic DNA was obtained by the saline extraction method. The genotyping of the samples was performed by means of the Polymerase Chain Reaction (PCR). The statistics analyses were performed by descriptive analysis, univariate analysis and logistic regression model. The results were presented in odds ratio (OR) and confidence interval of 95% (CI-95%), with a significance level of 5% (p≤0.05). RESULTS: There were no statistical differences between patients and controls for the genotypic (χ2 = 1.52, p = 0.47) and allelic frequencies (χ2 = 0.21, p = 0.76). The distribution of the genotypic frequency is not in HWE for patients (χ2 = 18.80, p <0.05) and for controls (χ2 = 6.85, p <0.05). In relation to the risk factors for the syndrome, the history of familial PCOS is more frequent between women with the syndrome. CONCLUSION: In the study population, there was no association between I/D polymorphism of the ACE gene and PCOS.

RESUMO OBJETIVO: Investigar a contribuição do polimorfismo de deleção e inserção (rs1799752) do gene enzima conversora de angiotensina (ECA) na etiologia da Síndrome dos Ovários Policísticos (SOP). MÉTODOS: Participaram deste estudo 97 mulheres diagnosticadas com SOP, atendidas no ambulatório de Ginecologia e Obstetrícia do Hospital de Clínicas da UFTM. O grupo controle foi constituído por 94 mulheres. Todas as participantes foram submetidas à coleta de 10 mL de sangue total e o DNA genômico foi obtido pelo método de extração salina. A genotipagem das amostras foi realizada por meio da Reação da Cadeia da Polimerase (PCR). A análise estatística foi realizada por análises descritivas, análise univariada e modelo de regressão logística. Os resultados foram apresentados em odds ratio (OR) e intervalo de confiança de 95% (IC - 95%). Foi considerado o nível de significância de 5% (p≤0,05). RESULTADOS: Não foram observadas diferenças estatísticas entre pacientes e controles para as frequências genotípicas (χ2=1,52; p=0,47) e alélicas (χ2=0,21; p=0,76). A distribuição da frequência genotípica não está em equilíbrio de HWE para as pacientes (χ2=18,80; p<0,05) e para controles (χ2=6,85; p<0,05). Em relação aos fatores de risco para a síndrome, a história familial de SOP é mais frequente entre as pacientes. CONCLUSÃO: Na casuística estudada não há associação do polimorfismo I/D do gene ACE e SOP.

Interferência nutricional no tratamento de pacientes com diabetes mellitus tipo 1 / Interferencia nutricional en el tratamiento de pacientes con diabetes mellitus tipo 1 / Nutritional interference in the treatment of patients with diabetes mellitus type 1

RESUMO O tratamento do Diabetes Mellitus tipo 1 (DM1) constitui-se na adesão ao tratamento insulínico, na alimentação e na atividade física, visando ao controle glicêmico. O objetivo deste estudo foi observar os efeitos da interferência nutricional no tratamento de pacientes com DM1. Trata-se de estudo quantitativo, prospectivo e longitudinal desenvolvido no Ambulatório de Diabetes da UFTM. A coleta de dados foi realizada entre março de 2013 e setembro de 2014. Foram avaliados 41 crianças e adolescentes entre 6 e 17 anos, quanto à antropometria, controle glicêmico e lipídico em 4 momentos: M1 no início do seguimento; M2 após orientação nutricional convencional; M3 após aprendizagem da contagem de carboidratos (CCHO) e M4 em contagem plena. A análise estatística foi descritiva e inferencial. A antropometria comprovou que a CCHO não resultou em ganho de peso e foi efetiva no sexo masculino, demonstrada pela redução nas concentrações de frutosamina (p=0,050) e HbA1C (p=0,041) no M4 comparado ao M1. Considerando a frutosamina, o grupo com CCHO se diferenciou do grupo sem CCHO M4 (p=0,035). A terapêutica insulínica associada à CCHO demonstrou ser um recurso importante a ser integrado no tratamento do DM1, visando atingir alvos efetivos na redução das complicações.

RESUMEN El tratamiento de la Diabetes Mellitus tipo 1 (DM1) se constituye en la adhesión al tratamiento medicamentoso, en la alimentación y en la actividad física, centrando en el control glucémico. El objetivo de este estudio fue observar los efectos de la interferencia nutricional en el tratamiento de pacientes con DM1. Se trata de estudio cuantitativo, prospectivo y longitudinal desarrollado en el Ambulatorio de Diabetes de la UFTM (Universidade Federal do Triângulo Mineiro). La recolección de datos fue realizada entre marzo de 2013 y septiembre de 2014. Fueron evaluados 41 niños y adolescentes entre 6 y 17 años, en cuanto a la antropometría, control glucémico y lipídico en 4 momentos: M1 en el inicio del seguimiento; M2 tras orientación nutricional convencional; M3 tras aprendizaje del conteo de carbohidratos (CCHO) y M4 en conteo pleno. El análisis estadístico fue descriptivo e inferencial. La antropometría comprobó que el CCHO no resultó en ganancia de peso y fue efectivo en el sexo masculino, demostrado por la reducción en las concentraciones de fructosamina (p=0,050) y HbA1C (p=0,041) en el M4 comparado al M1. Considerando la fructosamina, el grupo con CCHO se diferenció del grupo sin CCHO M4 (p=0,035). La terapéutica insulínica asociada al CCHO demostró ser un recurso importante a ser integrado en el tratamiento del DM1, a fin de alcanzar blancos efectivos en la reducción de las complicaciones.

ABSTRACT The treatment of Diabetes Mellitus Type 1 (DM1) involves adherence to insulin treatment, diet and physical activity, aiming at glycemic control. The objective of this study was to observe the effects of nutritional interference in the treatment of patients with DM1. It is a quantitative, prospective and longitudinal study developed at the UFTM Diabetes Outpatient Clinic. Data collection was performed between March 2013 and September 2014. Thirty-one children and adolescents between 6 and 17 years old were evaluated for anthropometry, glycemic and lipid control in four stages: M1 at the beginning of follow-up; M2 after conventional nutritional counseling; M3 after learning the carbohydrate count (CCHO) and M4 in full count. Statistical analysis was descriptive and inferential. The anthropometry showed that CCHO did not result in weight gain and was effective in males, demonstrated by the reduction in the concentrations of fructosamine (p=0.050) and HbA1C (p=0.041) in M4 compared to M1. Considering the fructosamine, the CCHO group differed from the non-CCHO M4 group (p=0.035). CCHO-associated insulin therapy has been shown to be an important resource to be integrated into the treatment of DM1 to achieve effective targets in reducing complications.

Prevalence of overweight and obesity and associated factors in school children and adolescents in a medium-sized Brazilian city

OBJECTIVES: The objective of this study was to describe the prevalence of overweight and obesity in school children and adolescents in a medium-sized Brazilian city. METHODS: In total, 1,125 children and adolescents between the ages of 5.6 and 18 years from public and private schools participated in the study. The sample included 681 girls and 444 boys. Each subject's weight and height were obtained according to Brazilian guidelines (SISVAN). The triceps (TSF), subscapular (SSF), biceps, suprailiac, femoral and calf skinfolds were measured in triplicate. Body mass index (BMI) was classified as the BMI percentile (BMIP) according to the World Health Organization (WHO) 2007 criteria. The percentage body fat (%BF) was obtained using the equations by Slaughter et al., 1998. Categorical variables were analyzed using the chi-squared test. RESULTS: Overall, 364 participants with excess weight were identified: 17.3% were overweight, and 15.0% were obese. Among the girls, 18.0% were overweight, and 12.5% were obese; among the boys, 15.3% were overweight, and 18.0% were obese. These prevalence rates were higher when the time spent watching TV or participating in media-related activities surpassed 5 hrs/day, when individuals belonged to a higher economic class and when the head of the family had a higher education level (≥12 years). CONCLUSION: It is important to emphasize the need to increase our understanding of factors associated with overweight and obesity, and it is essential to implement measures and policies aimed at reversing this trend, such as stimulating healthy eating habits and physical activity and reducing time spent watching TV and participating in other media activities, including video games and social networking.

Evaluation of central precocious puberty treatment with GnRH analogue at the Triangulo Mineiro Federal University (UFTM)

Objective To report our experience of treating central precocious puberty (CPP) with a GnRH analogue with respect to the final heights (FH) attained in patients who completed treatment. Subjects and methods Among 105 records of children diagnosed with precocious puberty, 62 cases (54 girls and 8 boys), who were treated with leuprolide acetate/3.75 mg/monthly, were selected, and divided into 4 groups: group 1 (G1), 25 girls who attained FH; group 2 (G2), 18 girls who completed treatment but did not reach FH; group 3 (G3), 11 girls still under treatment; and group 4 (G4), 8 boys, 5 of which attained FH. Treatment was concluded at a bone age of 12 years, and follow-up continued until FH was achieved. Results In both G1 and G2 groups, height standard deviation score (SDS), weight-SDS and percentile of body mass index (PBMI) did not show intra/intergroup differences at the beginning and at interruption of treatment, but when added, G1+G2, height-SDS and weight-SDS differed significantly (p = 0.002 and 0.0001, respectively). In G1, 19 of 25 cases attained TH, and average height gain was 16.7 cm (7.7- 27.1); there was significant difference between FH and prediction of FH at the start (PFH at start) (p = 0.0001), as well as between PFH at interruption vs TH and vs FH (p = 0.007) with FH higher than TH (p = 0.004). Significant correlation was identified between FH and height gain after treatment. Conclusion As shown by some studies, GnRH analogue treatment was effective in children with CPP reaching FH near the genetic target.

Puberty in a sample of Brazilian schoolgirls: timing and anthropometric characteristics

Objective The objective of this study was to determine the age at which puberty begins, age of menarche and anthropometric data of the participants at different stages of puberty. Subjects and methods This is a cross-sectional study in which we evaluated 665 girls, a sample representing the female schoolchildren population in Uberaba. Results We found that thelarche, pubarche, underarm hair and menarche were attained at the age of 9.8 ± 1.4, 10.2 ± 1.4, 10.5 ± 1.5 and 11.7 ± 1.3 years, respectively. The mean interval between thelarche and menarche (ITM) was 1.7 ± 1.3 years. The prevalence of overweight and obesity was 31.3% and 95% of the participants began at thelarche between the age of 7 and 12 years. Conclusion These values indicate a secular tendency to the decrease of the age of menarche and an earlier start of puberty. It is very important to understand these parameters to establish public policies aimed at plans to prevent these early events, especially regarding control of the prevalence of obesity. .

Obesidade e fatores de risco cardiometabólicos durante a gravidez / Obesity and cardiometabolic risk factors during pregnancy

OBJETIVO: Avaliar fatores de risco cardiometabólicos durante a gestação normal, observando a influência da obesidade materna sobre os mesmos. MÉTODOS: Estudo realizado com 25 gestantes sadias com gestação única e idade gestacional inferior a 20 semanas. Foi feita análise longitudinal de pressão arterial, peso, índice de massa corporal (IMC), concentrações séricas de leptina, adiponectina, cortisol, colesterol total e frações, triglicérides, ácido úrico, glicose de jejum, teste oral de tolerância à glicose, HOMA-IR e relação insulina/glicose nos três trimestres da gestação. Para avaliação da influência da obesidade, as gestantes foram divididas em dois grupos baseados no IMC do primeiro trimestre: grupo com peso normal (Gpn) para gestantes com IMC<25 kg/m2 e grupo com sobrepeso/obesidade (Gso) para IMC≥25 kg/m2. Foram utilizados testes ANOVA de um fator para medidas repetidas ou teste de Friedman e os testes t de Student ou de Mann-Whitney para análises estatísticas comparativas e teste de Pearson para correlações. RESULTADOS: A média de idade foi de 22 anos. Os valores médios para o primeiro trimestre foram: peso 66,3 kg e IMC 26,4 kg/m2, sendo 20,2 kg/m2 do Gpn e 30,7 kg/m2 do Gso. A média do ganho de peso foi de 12,7 kg (10,3 kg para Gso e 15,2 Kg para Gpn). Os níveis de cortisol, ácido úrico e lipidograma elevaram-se nos trimestres, com exceção do HDL-colesterol que não se alterou. A pressão arterial, insulina e HOMA-IR sofreram elevação apenas no terceiro trimestre. O grupo Gso mostrou tendência a maior ganho de peso, apresentou concentrações de leptina, colesterol total, LDL-colesterol, VLDL-colesterol, TG, glicemia jejum e insulina mais elevados, maior HOMA-IR, além de reduzida ...

PURPOSE: To assess cardiometabolic risk factors during normal pregnancy and the influence of maternal obesity on them. METHODS: This study included 25 healthy pregnant women with a single pregnancy and a gestational age of less than twenty weeks. Longitudinal analysis of blood pressure, body weight, body mass index (BMI), serum concentrations of leptin, adiponectin, cortisol, total cholesterol and fractions, triglycerides, uric acid, fasting glucose, oral glucose tolerance test, HOMA-IR and insulin/glucose ratio was performed each trimester during pregnancy. In order to evaluate the impact of obesity, pregnant women were divided into two groups based on BMI for the first quarter of pregnancy: Gpn for pregnant women with BMI<25 kg/m2 and Gso for BMI≥25 kg/m2. One-Way ANOVA for repeated measurements or Friedman test and Student-t or Mann-Whitney tests for statistical comparisons and Pearson correlations test were used for statistical analysis. RESULTS: The mean values for the first quarter of pregnancy for the following parameters were: age: 22 years; weight: 66.3 kg and BMI 26.4 kg/m2, with 20.2 and 30.7 kg/m2 for the Gpn and Gso groups, respectively. Mean weight gain during pregnancy was ±12.7 kg with 10.3 kg for the Gso group and 15.2 kg for the Gpn group. Regarding plasma determinations, cortisol, uric acid and lipid profile increased during all trimesters of pregnancy, except for HDL-cholesterol, which did not change. Blood pressure, insulin and HOMA-IR only increased in the third quarter of pregnancy. The Gso group tended to gain more weight and to show higher concentrations of leptin, total cholesterol, LDL-cholesterol, VLDL-cholesterol, TG, glucose, insulin, HOMA-IR, besides lower HDL-cholesterol and greater diastolic blood pressure in the 3rd quarter of pregnancy. Three pregnant women developed gestational hypertension, presented prepregnancy obesity, excessive weight gain, hyperleptinemia and an insulin/glucose ...