Genetic polymorphisms and plasma concentrations of leptin (rs7799039) and adiponectin (rs17300539) are associated with obesity in children and adolescents.

OBJECTIVE: The aim of this study was to compare the anthropometric, biochemical, and hormonal characteristics and the presence of genetic polymorphisms of leptin, adiponectin, and tumor necrosis factor alpha (TNF-α) between eutrophic and obese children and adolescents. METHODS: This is a case-control study involving 104 children and adolescents. All subjects were assessed for anthropometric characteristics and clinical, laboratory, and genetic polymorphism parameters. The sample was selected from the pediatric endocrinology outpatient clinic specialized in the treatment of obesity in children and adolescents according to the Centers for Disease Control and Prevention (CDC) classification, and controls were selected from the same location in the general pediatric outpatient clinic. RESULTS: As a result, the parameters, such as black color, obese parents, hypertensive parents, and early weaning, were found to be associated with obesity. Increased levels of insulin, triglyceride, total cholesterol, LDL cholesterol, CRP-U, AST, ALT, GGT, free T4, IGF-1, and uric acid and low levels of HDL cholesterol are found to be associated with a higher chance of obesity. The presence of AG/AA polymorphisms in the leptin is associated with a 290% (OR 3.9) higher chance of obesity, and for adiponectin genes, the chances are 740% (OR 8.4) higher. In these obese children and adolescents with AG/AA haplotypes, serum leptin levels were increased and adiponectin levels were decreased in eutrophic individuals, whereas serum TNF-α levels did not change. CONCLUSIONS: The AG/AA polymorphisms in the leptin and adiponectin genes alter the serum levels of these adipokines and predispose them to obesity, and many anthropometric, biochemical, and hormonal markers are altered, demonstrating early consequences for the health of these obese children and adolescents.

Is the GSTM1 null polymorphism a risk factor in primary open angle glaucoma?

PURPOSE: To investigate the association of glutathione S-transferase (GST) GSTM1, GSTT1, and GSTP1 genes with the risk of primary open angle glaucoma (POAG) and clinical features of the disease. METHODS: We conducted a case-control study that included 87 Brazilian patients with POAG and 85 healthy controls matched for age, ethnicity, and sex, whose blood samples were genotyped for polymorphisms in GST genes using polymerase chain reaction (PCR) based methods. RESULTS: The GSTM1 null polymorphism was significantly more common in the POAG than in the controls group (OR: 2.1, 95% CI: 1.13-3.9; p=0.018). The combined GSTM1 null/GSTT1+ genotype and GSTM1 null/GSTP1 Ile/Val or Val/Val was more prevalent in POAG patients, being a risk factor for POAG (OR: 2.4, 95% CI: 1.16-4.9; p=0.016 and OR: 2.7, 95% CI: 1.07-6.74; p=0.033, respectively). The GSTM1 null/GSTT1+ genotype were associated with higher levels of IOP of both eyes and with more severe defect of the right eye optic nerve. The GSTM1 null/GSTP1 Ile/Val or Val/Val genotypes were associated with higher levels of IOP and more advanced defect of the right eye optic nerve and visual field. CONCLUSIONS: We demonstrate that GSTM1 null polymorphism is associated with POAG in the Brazilian population.

Genetic polymorphisms and plasma concentrations of leptin (rs7799039) and adiponectin (rs17300539) are associated with obesity in children and adolescents / Polimorfismos genéticos e concentrações plasmáticas de leptina (rs7799039) e adiponectina (rs17300539) associados à obesidade em crianças e adolescentes

ABSTRACT Objective: The aim of this study was to compare the anthropometric, biochemical, and hormonal characteristics and the presence of genetic polymorphisms of leptin, adiponectin, and tumor necrosis factor alpha (TNF-α) between eutrophic and obese children and adolescents. Methods: This is a case-control study involving 104 children and adolescents. All subjects were assessed for anthropometric characteristics and clinical, laboratory, and genetic polymorphism parameters. The sample was selected from the pediatric endocrinology outpatient clinic specialized in the treatment of obesity in children and adolescents according to the Centers for Disease Control and Prevention (CDC) classification, and controls were selected from the same location in the general pediatric outpatient clinic. Results: As a result, the parameters, such as black color, obese parents, hypertensive parents, and early weaning, were found to be associated with obesity. Increased levels of insulin, triglyceride, total cholesterol, LDL cholesterol, CRP-U, AST, ALT, GGT, free T4, IGF-1, and uric acid and low levels of HDL cholesterol are found to be associated with a higher chance of obesity. The presence of AG/AA polymorphisms in the leptin is associated with a 290% (OR 3.9) higher chance of obesity, and for adiponectin genes, the chances are 740% (OR 8.4) higher. In these obese children and adolescents with AG/AA haplotypes, serum leptin levels were increased and adiponectin levels were decreased in eutrophic individuals, whereas serum TNF-α levels did not change. Conclusions: The AG/AA polymorphisms in the leptin and adiponectin genes alter the serum levels of these adipokines and predispose them to obesity, and many anthropometric, biochemical, and hormonal markers are altered, demonstrating early consequences for the health of these obese children and adolescents.

RESUMO Objetivo: Comparar as características antropométricas, bioquímicas, hormonais e a presença de polimorfismos genéticos de leptina, adiponectina e fator de necrose tumoral alfa (TNF-α) entre crianças e adolescentes eutróficos e obesos. Métodos: Trata-se de um estudo caso-controle conduzido com 104 crianças e adolescentes. Todos os indivíduos foram avaliados quanto às características antropométricas e parâmetros clínicos, laboratoriais e de polimorfismo genético. A amostra foi selecionada no ambulatório de endocrinologia pediátrica especializado no tratamento da obesidade em crianças e adolescentes de acordo com a classificação do Centers for Disease Control and Prevention (CDC), e os controles foram selecionados no mesmo local, porém no ambulatório de pediatria geral. Resultados: Alguns parâmetros foram associados à obesidade em nosso estudo: cor preta, pais obesos, pais hipertensos e desmame precoce. Níveis aumentados de insulina, triglicerídeos, colesterol total, colesterol LDL, PCR-U, AST, ALT, GGT, T4 Livre, IGF-1, ácido úrico e níveis baixos de colesterol HDL estão associados a uma chance maior de obesidade. A presença de polimorfismos AG/AA na leptina está associada a uma chance 290% (OR 3,9) maior de obesidade, enquanto para os genes da adiponectina as chances são 740% (OR 8,4) maiores. Nessas crianças e adolescentes obesos com haplótipos AG/AA, os níveis séricos de leptina aumentaram e os níveis de adiponectina diminuíram em relação aos eutróficos, já os níveis séricos de TNF-α não se alteraram. Conclusões: Concluiu-se que os polimorfismos AG/AA nos genes da leptina e adiponectina alteram os níveis séricos dessas adipocinas e predispõem à obesidade precoce, e muitos marcadores antropométricos, bioquímicos e hormonais ficam alterados, trazendo consequências para a saúde dessas crianças e adolescentes.

Padrão histopatológico e incidência de carcinomatose peritoneal ao diagnóstico em mulheres com câncer de ovário / Histopathological pattern and incidence of peritoneal carcinomatosis at diagnosis in women with ovarian cancer

Objetivo: Descrever o padrão histopatológico e identificar a incidência de carcinomatose peritoneal no momento do diagnóstico de mulheres diagnosticadas com neoplasia de ovário. Métodos: Trata-se de um estudo transversal e descritivo, baseado na análise secundária de dados correspondentes aos prontuários de mulheres adultas com diagnóstico de neoplasia de ovário de um serviço de referência em oncologia clínica. Foram analisados 40 prontuários entre janeiro de 2007 e janeiro de 2017. Resultados: Ao estadiamento segundo o sistema da International Federation of Gynecology and Obstetrics, três mulheres (7,5%) apresentavam estadiamento clínico (EC) II, três (77,5%) estágio ECIII com carcinomatose peritoneal/invasão da pelve e seis (15%) estágio ECIV com metástases à distância, especialmente para pulmão e fígado. Em relação ao padrão histopatológico, 20 mulheres apresentaram adenocarcinoma seroso papilífero de alto grau (50%), 4 (10%) adenocarcinoma seroso papilífero de baixo grau, 3 (7,5%) adenocarcinoma endometrioide, 3 (7,5%) tumor de teca/granulosa, 3 (7,5%) carcinoma de células claras, 3 (7,5%) tumores não classificados, 2 (5%) disgerminoma e 2 (5%) com cistoadenocarcinoma mucinosos. Conclusão: É nítida a necessidade de mais estudos envolvendo essa patologia, de modo a favorecer o diagnóstico e a intervenção em estágios mais precoces e reduzir desfechos desfavoráveis. (AU)

Objective: To describe the histopathological pattern, and to identify the incidence of peritoneal carcinomatosis at the time of the diagnosis of women diagnosed with ovarian neoplasm. Methods: This is a cross-sectional and descriptive study, based on the secondary analysis of data corresponding to the medical records of adult women diagnosed with ovarian neoplasm in a reference service of clinical oncology. A total of 40 medical records were analyzed between January 2007 and January 2017. Results: At the staging (FIGO system) of the International Federation of Gynecology and Obstetrics, three women (7.5%) had clinical staging (EC) II staging, 31 (77.5%) were in the ECIII stage, with peritoneal carcinomatosis/pelvic invasion, six (15%) were in the ECIV stage, with metastases at a distance, especially to lung and liver. Regarding the histopathological pattern, twenty women had high-grade papillary serous adenocarcinoma (50%), 4 (10%) with low-grade papillary serous adenocarcinoma, 3 (7.5%) with endometrioid adenocarcinoma, 3 (7.5%) with granulosa-theca tumor, 3 (7.5%) with clear cell carcinoma, 3 (7.5%) with unclassified tumors, 2 (5%) with dysgerminoma, two (5%) with mucinous cystadenocarcinoma. Conclusions: There is a clear need for further studies involving this pathology, in order to favor diagnosis and intervention at earlier stages and to reduce unfavorable outcomes. (AU)

Perfil de pacientes diagnosticados com câncer de vesícula biliar / Profile of patients diagnosed with gallbladder cancer

Objetivo: Descrever o perfil clínico-epidemiológico de pacientes diagnosticados com câncer de vesícula e identificar o estadiamento do tumor estabelecido no momento do diagnóstico, bem como o padrão histopatológico no momento da biópsia. Métodos: Trata-se de estudo transversal e descritivo realizado em um serviço de referência em oncologia clínica, baseado em análise secundária de dados correspondentes aos prontuários de indivíduos com diagnóstico de câncer de vesícula biliar atendidos entre janeiro de 2007 e janeiro de 2017. Resultados: A distribuição por sexo foi de cinco mulheres (62,5%) e três homens (37,5%). A idade variou de 47 a 74 anos, com média de 61,1 anos e desvio padrão de ±9,03. Nenhum indivíduo era assintomático ao diagnóstico; seis (75%) apresentaram dor em hipocôndrio direito, dois (25%) perda de peso e dois outros (25%) massa palpável. Dos oito indivíduos, seis (75%) apresentavam estadiamento clínico (EC) IV ao diagnóstico. O perfil histopatológico apresentou 100% de adenocarcinoma, sendo uma amostra com áreas papilíferas, três moderadamente diferenciadas, três metastáticas e uma bem diferenciada. Conclusão: O perfil clínico-epidemiológico estabelecido foi maior prevalência de câncer de vesícula biliar em mulheres, com média de idade na sétima década. Predominou a cólica biliar como sintoma. O padrão de adenocarcinoma foi identificado em todos os indivíduos. Três quartos dos indivíduos apresentavam estágio avançado de doença. (AU)

Objective: to describe the clinical-epidemiological profile of patients diagnosed with gallbladder cancer, and to identify tumor staging established at the time of diagnosis, as well as the histopathological pattern at the biopsy. Methods: This is a cross-sectional and descriptive study, carried out in a reference service of clinical oncology, based on secondary analysis of data corresponding to the medical records of patients diagnosed with Gallbladder cancer seen between January-2007 and January-2017. Results: Gender distribution was of five women (62.5%), and three men (37.5%). Patients' ages ranged from 47-74 years, mean age of 61.1 years and standard deviation of ±9.03). No patient was asymptomatic at diagnosis, six (75%) had right hypochondrium pain, two (25%) showed weight loss, and two others (25%), palpable mass. Of the eight patients, six (75%) had EC IV staging at diagnosis. The histopathological profile showed 100% of adenocarcinoma, with one sample having papilliferous areas, three being moderately differentiated, three metastatic, and one well differentiated. Conclusion: The clinical-epidemiological profile established in this study had a higher prevalence of gallbladder cancer in women, with a mean age of the individual around the 7th decade. The most frequent symptom was biliary colic. The adenocarcinoma pattern was identified in all individuals. Three-quarters of them had advanced disease. (AU)

Tumor necrosis factor alpha -308 promoter polymorphism and insulin resistance in overweight and obese adolescents

Study Model/Methodology: This is a cross-sectional study with a sample of 104 overweight/obese adolescents, with a mean weight of 52.98 kg ± 22.00, mean age 16.01 ± 2.91 years. We used the homeostasis model assessment-estimated IR (HOMA-IR) index to quantify the insulin resistance (IR). The -308 polymorphism of the promoter of TNF-α was performed using polymerase chain reactionrestriction fragment length polymorphism technique. Statistical analysis of the quantitative measures was conducted with a student's t-test. For correlation between the genotype and alleles, we used chisquare statistical test. To test the heterogeneity between HOMA-IR and the anthropometric parameters the Mann-Whitney test was used, associated with the Hardy-Weinberg equilibrium. The association between -308G/A polymorphism of the promoter of TNF-α and HOMA-IR was tested by univariate linear regression analysis. Objective: Investigate the association between -308G/A polymorphism in the promoter of tumor necrosis factor-alpha (TNF-α) and susceptibility to IR in overweight/obese adolescents. Results: The prevalence of IR was 18.30% according to the HOMA-IR. The frequency of GG, AG and AA genotype was found 75 (72.12%), 28 (26.92%) and 1.0 (0.96%) respectively. Allele frequencies for guanine (G) and adenine (A) were 178 (85.58%) and 30 (14.42%), respectively. The allele A as well as GA and AA genotype contributed to increase RI (14.42% and 27.88% respectively). Conclusion: The - 308 G/A polymorphism of the promoter of TNF-α can contribute to the IR increase in obese adolescents with GA and AA genotypes. (AU)

Modelo de Estudo / Metodologia: Trata-se de um estudo transversal, com uma amostra de 104 adolescentes com sobrepeso/ obesidade, com peso médio de 52,98 kg ± 22,00, média de idade de 16,01 ± 2,91 anos. Utilizamos o índice estimado (HOMA-IR) do modelo de homeostase para quantificar a resistência insulínica (RI). O polimorfismo do promotor -308 do TNF-α foi realizado utilizando a técnica de polimorfismo de comprimento de fragmento de restrição. A análise estatística das medidas quantitativas foi realizada com o teste t student. Para a correlação entre o genótipo e os alelos, utilizamos o teste estatístico qui-quadrado. Para testar a heterogeneidade entre HOMA-IR e os parâmetros antropométricos foi utilizado o teste de Mann-Whitney associado ao equilíbrio de Hardy-Weinberg. A associação entre o polimorfismo -308G/A do promotor do TNF-α e HOMA-IR foi testada por análise de regressão linear univariada. Objetivo: investigar a associação entre o polimorfismo -308G/A no promotor do fator de necrose tumoral alfa (TNF-α) e a susceptibilidade à RI em adolescentes com sobrepeso/ obesidade. Resultados: A prevalência de RI foi de 18,30% de acordo com o HOMA-IR. A frequência dos genótipos GG, AG e AA encontrados foram 75 (72,12%), 28 (26,92%) e 1,0 (0,96%), respectivamente. As frequências de alelos para guanina (G) e adenina (A) foram 178 (85,58%) e 30 (14,42%), respectivamente. O alelo A, bem como o genótipo GA e AA, contribuíram para aumentar o RI (respectivamente 14,42% e 27,88%). Conclusão: O polimorfismo -308 G / A do promotor do TNF-α pode contribuir para o incremento de RI em adolescentes sobrepesos/obesos com genótipos GA e AA.(AU)

[Quality of life and socio-economical aspects of diabetics type 1]. / Qualidade de vida e aspectos socioeconômicos em diabéticos tipo 1.

OBJECTIVES: This research has appraised the quality of life (QL) of diabetics type 1 member of Associação dos Diabéticos de Itabuna (ASDITA) and has verified their correlation between clinic variable and social-demographic situation of this group. RESEARCH DESIGN AND METHODS: Thirty-four patients (gamma = 88%, epsilon = 5%; 53% female, age 20.4 +/- 8.4 years, diagnostic time 5.7 +/- 4.9 year) have participated in this research, data showed weight and height after the interview and measuring. RESULTS: The social-demographic profiles of this group revealed family income of 0.7 +/- 0.56 of minimal salary, 53% had elementary school level and 64.7% were students. In avarage, the QL was regular (58.8%). QL has not been influenced by the level of education, ethnology, occupation, BMI, daily shot of insulin, or glicemic monitorization profile but woman, adult, diagnostic time more than ten years, little family income have had the worst QL. CONCLUSIONS: The QL of the searched patients has been less than what several publications have showed, but additional researches are necessary to have better comparisons between diabetics with socio-economical and cultural conditions similar to the ones observed in this research.

Qualidade de vida e aspectos socioeconômicos em diabéticos tipo 1 / Quality of life and socio-economical aspects of diabetics type 1

OBJETIVOS: Avaliar a qualidade de vida (QV) em diabéticos tipo 1 assistidos na Associação dos Diabéticos de Itabuna, BA (ASDITA), e verificar suas relações com as variáveis clínicas e sociodemográficas (escolaridade, renda familiar e ocupação). MÉTODOS: Foram estudados 34 pacientes (γ = 88 por cento, ε = 5 por cento; 53 por cento mulheres, média de idade 20,4 ± 8,4 anos e média de tempo de diagnóstico 5,7 ± 4,9 anos), por meio de entrevista e antropometria (medidas de peso e altura). RESULTADOS: O perfil sociodemográfico da amostra revelou renda familiar per capita de 0,70 ± 0,56 salários mínimos, 53 por cento possuíam o ensino fundamental, 64,7 por cento eram estudantes. Em média, a qualidade de vida (QV) foi regular (58,8 por cento). Não interferiram na QV: escolaridade, ocupação, etnia, índice de massa corpórea, número de aplicações diárias de insulina e perfil de monitoração da glicemia capilar. Associaram-se a pior QV: sexo feminino, ser adulto, tempo de diagnóstico maior ou igual a dez anos e baixa renda familiar. CONCLUSÕES: A QV destes pacientes foi inferior ao descrito na literatura, entretanto, estudos adicionais são necessários para comparações com diabéticos em condições socioeconômicas e culturais semelhantes às observadas nesta pesquisa.

OBJECTIVES: This research has appraised the quality of life (QL) of diabetics type 1 member of Associação dos Diabéticos de Itabuna (ASDITA) and has verified their correlation between clinic variable and social-demographic situation of this group. RESEARCH DESIGN AND METHODS: Thirty-four patients (γ = 88 percent, ε = 5 percent; 53 percent female, age 20.4 ± 8.4 years, diagnostic time 5.7 ± 4.9 year) have participated in this research, data showed weight and height after the interview and measuring. RESULTS: The social-demographic profiles of this group revealed family income of 0.7 ± 0.56 of minimal salary, 53 percent had elementary school level and 64.7 percent were students. In avarage, the QL was regular (58.8 percent). QL has not been influenced by the level of education, ethnology, occupation, BMI, daily shot of insulin, or glicemic monitorization profile but woman, adult, diagnostic time more than ten years, little family income have had the worst QL. CONCLUSIONS: The QL of the searched patients has been less than what several publications have showed, but additional researches are necessary to have better comparisons between diabetics with socio-economical and cultural conditions similar to the ones observed in this research.

Diagnóstico clínico e laboratorial da deficiência isolada do hormônio do crescimento em crianças e adolescentes portadores da mutação no gene do receptor do hormônio liberador do hormônio de crescimento em Itabaianinha, Sergipe / Clinical and laboratorial diagnosis isolated deficiency of growth hormone in children and adolescents with mutation in receptor gene of growth hormone-releasing hormone in Itabaianinha, SE, Brazil

INTRODUÇAO: Em Itabaianinha - Sergipe é encontrado o maior grupo descrito na literatura de habitantes com o fenótipo associado à deficiência isolada do hormônio do crescimento (DIGH) em função da mutação IVS1+ 1, G->A no gene do receptor do hormônio liberador do hormônio de crescimento (GHRH). O objetivo do presente trabalho é descrever o fenótipo clínico e laboratorial dos pacientes da cidade. MATERIAIS E MÉTODOS: Foram selecionados 12 indivíduos com fenótipo clínico de DIGH e 10 voluntários controles sem deficiência de GH, ambos com idade inferior a 20 anos, para estudo de corte transversal. RESULTADOS E DISCUSSAO: Os portadores de DIGH apresentaram hiporresponsividade ao teste de clonidina e à hipoglicemia insulínica e níveis séricos abaixo dos valores de referência para o fator de crescimento insulina símile I (IGF-I) e proteína ligadora do fator de crescimento símile a insulina 3 (IGFBP-3) (6 ±4ng/ml e 510 ± 151ng/ml, respectivamente p < 0,01). O estudo mostrou não haver alterações de função tireoidiana, níveis de hormônios gonadais, cortisol e no estudo da sela túrcica nessa população. Os indivíduos de Itabaianinha apresentam maior número de características fenotípicas (baixa estatura proporcionada, facies típica, adiposidade central, etc.) quando comparados aos grupos descritos na literatura com outras mutações no GHRH-R. CONCLUSAO: Os dados demonstram que a população da cidade apresenta deficiência isolada do hormônio de crescimento do tipo IB. Além disso, a baixa estatura não está associada a alterações múltiplas de hormônios hipofisários ou outras patologias não-hormonais.