The association between the HLA-G 14-bp insertion/deletion polymorphism and type 1 diabetes

Type 1 diabetes (T1D) is a multifactorial disease that has a strong genetic component. The HLA-G is a nonclassical HLA class I locus that is associated with immunomodulatory functions, including downregulation of innate and adaptive immune responses and induction of immune tolerance. However, there is currently limited information about the involvement of HLA-G in T1D susceptibility. This case-control study aims to investigate the T1D susceptibility association of alleles and genotypes of a widely investigated 14-bp insertion/deletion polymorphism in the HLA-G and to provide further evidence of the frequency distribution of class II HLA-DR-DQ-risk genotypes in T1D children and adolescents in the Brazilian population. The deletion allele and the homozygous deletion genotype are associated with susceptibility to T1D and the insertion allele and the heterozygous deletion/insertion genotype are associated with protection from T1D. We also confirm that genetic susceptibility to T1D is associated with the DRB1*03:01-DQA1*05:01-DQB1*02:01 and DRB1*04-DQA1*03:01-DQB1*03:02 haplotypes in Brazilian northeast region. The DR3-DQ2/DR4-DQ8 genotype conferred the highest detected risk for T1D. Our results identify a novel association of the 14-bp deletion allele and the homozygous deletion genotype with T1D development and provide additional evidence of the importance of HLA class II heterozygous DR3-DQ2/DR4-DQ8 genotype in T1D susceptibility.

Effects of sensory motor training of lower limb in sedentary elderly as part of functional autonomy / / Efectos del entrenamiento sensorio motriz del miembro inferior en ancianos sedentarios como parte de su autonomía funcional / / Efeitos do treinamento sensório-motor de membros inferiores em idosos sedentários como parte de sua autonomia funcional

Objective: Assess the effects of sensorimotor training on the functional autonomy levels of sedentary elderly people. Methods: The sample was composed of 30 women (sedentary, functionally independent, = 65.03 ± 4.93 year), divided randomly into two groups: control (CG, n = 15) and experimental (EG, n = 15). Tests developed by the Latin American Development for the Elderly Group (GDLAM) were used to evaluate autonomy. The EG was submitted to a sensorimotor program three times a week, involving 24 thirty minute sessions. Data were processed using the SPSS program, with a 5% significance level. Results: The EG showed a significant reduction in execution time in all the tasks, while the CG only obtained a significantly better score on the 10-M walk test. Although the EG improved in the GDLAM index (% = −30, 3%, p = 0.0001), it remained at a “weak” level (GDLAM index >27.42). Conclusion: The results demonstrate that sensorimotor training reduces the execution time of tasks, as well as improving functional performance in activities of daily living (AU)

Objetivo: Evaluar los efectos del entrenamiento sensorio motriz en los niveles de autonomía funcional del anciano sedentario. Método: La muestra se compuso por 30 mujeres (sedentarias, independientes funcionalmente, 65,03 ± 4,93 años) divididas al azar en 2grupos: control (CG, n = 15) y experimental (EG, n = 15). Para la evaluación de la autonomía se utilizaron las pruebas del Grupo del Desarrollo Latinoamericano para la Madurez (GDLAM) antes y después de la intervención. El EG fue sometido a un programa de entrenamiento sensorio motriz, 3veces a la semana, la duración de cada sesión fue de 30 minutos y realizaron 24 sesiones. Los datos se procesaron con el programa SPSS, versión 19, adoptando nivel de significación de la p < 0,05. Resultados: En el grupo experimental se constató una reducción significativa del tiempo de ejecución en todas las tareas, mientras el CG solo obtuvo resultado significativamente mejor en la prueba de caminata de 10 m. En el índice general de GDLAM, el grupo experimental presentó mejora (delta% = -30, 3%, p = 0,0001), pero se mantuvo en un nivel «débil» (Índice GDLAM > 27,42). Conclusión: Los resultados muestran que la práctica del entrenamiento sensorio motriz influye de forma positiva en la reducción del tiempo de ejecución de las tareas, lo que se relaciona con el mejor rendimiento funcional de las actividades cotidianas (AU)

Objetivo: Avaliar os efeitos do treinamento sensório-motor sobre os níveis de autonomia funcional de idosos sedentários. Métodos: A amostra foi composta por 50 mulheres (sedentárias, funcionalmente independentes, 65,03 ± 4,93 anos) divididas aleatoriamente em 2grupos: controle (CG, n = 15) e experimental (EG, n = 15). Para a avaliaçãoda autonomia funcionalfoiutilizado o teste Grupode Desenvolvimento Latino-Americano para a Maturidade (GDLAM) antes e após a intervenção. O grupo EG foi submetido a um programa de treinamento sensório-motor, 3vezes por semana, com duração de 30 minutos cada sessão, e foram realizadas durante 24 sessões. Os dados foramprocessados através do programa SPSS, versão 19, adotando nível de significância de p < 0,05. Resultados: No grupo experimental foi constatada uma redução significativa do tempo de execução em todas as tarefas, enquanto que o grupo CG obteve resultados significativamente menores no teste de caminhada de 10 m. No índice geral do GDLAM, o grupo experimental apresentou melhora (D% = -30, 3%, p = 0,0001), porém se manteve em nível «fraco» (índice GDLAM > 27,42). Conclusão: Os resultados mostraram que a prática do treinamento sensório-motor influência de forma positiva na redução do tempo de execução das tarefas, relacionando-se com melhor rendimento funcional das atividades cotidianas (AU)

Genetic and non-genetic factors that increase the risk of non-syndromic cleft lip and/or palate development

ObjectivesWe investigated the relationship between non-syndromic cleft lip/palate (NSCLP) and polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), and RFC1, as well as the corresponding interactions with environmental factors.Subjects and MethodsOne hundred and forty NSCLP patients and their mothers, as well as 175 control individuals and their mothers, were recruited. Information regarding smoking and alcohol consumption was recorded. Blood samples were obtained in order to measure serum folate and cobalamin, as well as, plasma total homocysteine concentrations and to extract DNA. Polymorphisms in MTHFR(677C>T and 1298A>C), MTR(2756A>G), MTR(66A>G), and RFC1(80A>G) were analyzed by PCR–restriction fragment length polymorphism.ResultsAmong the patients, 59.5% had cleft lip and palate, 22.0% had cleft palate, and 18.5% had cleft lip only. Maternal alcohol consumption and reduced folic acid concentrations in both children and mothers (P < 0.001 and P = 0.003, respectively) were risk factors for NSCLP. Patients and their mothers carrying the MTHFR 667T allele showed lower serum folate than CC (P = 0.011 and P = 0.030, respectively). Mothers who carried the MTHFR 1298C allele exhibited increased risk of having a child with NSCLP, after adjusting for alcohol consumption (OR: 1.75, 95% CI: 1.03–2.99, P = 0.038).ConclusionsReduced folic acid levels, alcohol consumption, and the MTHFR 677T and 1298C alleles may have contributed to NSCLP development in this sample population from Rio Grande do Norte.

Association of polymorphisms in IL6 gene promoter region with type 1 diabetes and increased albumin-to-creatinine ratio

BACKGROUND:Pro-inflammatory cytokines, such as interleukin-6 (IL-6), have been considered as key factors in type 1 diabetes mellitus (T1DM) and diabetic nephropathy, thus, our aim was to investigate the association of IL6-174G>C (rs1800795) and -634C>G (rs1800796) polymorphisms with T1DM susceptibility and diabetic nephropathy.METHODS:These polymorphisms were analyzed in 144 children and adolescents with T1DM and 173 normoglycemic control subjects. Glycemic control, laboratory parameters of kidney function and serum lipids were evaluated. By studying only T1DM patients, we evaluated the polymorphisms associated with relevant biochemical parameters in various genetic models.RESULTS:Type 1 diabetes mellitus patients showed poor glycemic control and albumin-to-creatinine ratio, total cholesterol and LDL-cholesterol levels increased when compared with normoglycemic subjects (p G polymorphism...

Low bone mineral density in Type 1 diabetic patients: influence of reduced IGF1, IGF1R, and TGFB1 expression

BACKGROUND:The negative effect of Type 1 diabetes (T1D) on growth factors of bone metabolism leads to a reduction in bone mineral density (BMD). Therefore, this study aimed to evaluate the association between BMD and IGF1, IGF1R and TGFB1 expression in children and adolescents with T1D. Moreover, the influences of age at diagnosis, time since diagnosis, glycemic control, and albuminuria on BMD were investigated.METHODS:Eighty-six T1D children/adolescents (T1D group) and ninety normoglycemic controls (NG group) were included. T1D patients were analyzed altogether, and divided into two groups according to their glycemic profile (T1D with good glycemic control [T1DG group] and T1D with poor glycemic control [T1DP group]). BMD was assessed by dual energy X-ray absorptiometry. Glycemic control, renal function, and bone markers were also assessed. IGF1, IGF1R, and TGFB1 expressions were measured by real-time PCR.RESULTS:Patients with T1D showed low BMD and poor glycemic control. Serum total calcium and albumin-to-creatinine ratio were higher in the T1DP group compared to the T1DG group (p = 0.003 and p = 0.035, respectively). There was a reduction of IGF1, IGF1R, and TGFB1 expression in the T1D and T1DP groups compared to the NG group (p < 0.05).CONCLUSIONS:The decreased IGF1, IGF1R, and TGFB1 expression in the T1D and T1DP group of patients, who presented with T1D at an early age, had been diagnosed with T1D for a longer time, had poor glycemic control and albuminuria, may contribute to low BMD. This article is protected by copyright. All rights reserved.