ABSTRACT
Association studies between ADIPOR1 genetic variants and predisposition to type 2 diabetes (DM2) have provided contradictory results. We determined if two single nucleotide polymorphisms (SNP c.-8503G>A and SNP c.10225C>G) in regulatory regions of ADIPOR1 in 567 Brazilian individuals of European (EA; N = 443) or African (AfA; N = 124) ancestry from rural (quilombo remnants; N = 439) and urban (N = 567) areas. We detected a significant effect of ethnicity on the distribution of the allelic frequencies of both SNPs in these populations (EA: -8503A = 0.27; AfA: -8503A = 0.16; P = 0.001 and EA: 10225G = 0.35; AfA: 10225G = 0.51; P < 0.001). Neither of the polymorphisms were associated with DM2 in the case-control study in EA (SNP c.-8503G>A: DM2 group -8503A = 0.26; control group -8503A = 0.30; P = 0.14/SNP 10225C>G: DM2 group 10225G = 0.37; control group 10225G = 0.32; P = 0.40) and AfA populations (SNP c.-8503G>A: DM2 group -8503A = 0.16; control group -8503A = 0.15; P = 0.34/SNP 10225C>G: DM2 group 10225G = 0.51; control group 10225G = 0.52; P = 0.50). Similarly, none of the polymorphisms were associated with metabolic/anthropometric risk factors for DM2 in any of the three populations, except for HDL cholesterol, which was significantly higher in AfA heterozygotes (GC = 53.75 ± 17.26 mg/dL) than in homozygotes. We conclude that ADIPOR1 polymorphisms are unlikely to be major risk factors for DM2 or for metabolic/anthropometric measurements that represent risk factors for DM2 in populations of European and African ancestries.
Subject(s)
Female , Humans , Male , Middle Aged , Body Mass Index , /genetics , Polymorphism, Single Nucleotide/genetics , Receptors, Adiponectin/genetics , Black People/genetics , Brazil , Case-Control Studies , White People/genetics , Gene Frequency , Genotype , Genetic Predisposition to Disease/genetics , Risk FactorsABSTRACT
Diabetes mellitus (DM) is a highly prevalent complex genetic disorder. There has been a worldwide effort in the identification of susceptibility genes for DM and its complications, and the 5-10-methylenetetrahydrofolate reductase (MTHFR) and apolipoprotein-E (APOE) genes have been considered good candidate susceptibility genes to this condition. The objectives of the present study were to determine if the 677T MTHFR and epsilon2/epsilon3/epsilon4 APOE alleles are risk factors for DM and for severity of diabetic retinopathy (DR). A total of 248 individuals were studied: 107 healthy individuals and 141 diabetic patients (46 with type 1 diabetes and 95 with type 2 diabetes), who also had DR (81 with non-proliferative DR and 60 with proliferative DR). The polymorphisms were analyzed by PCR followed by digestion with restriction enzyme or the single-nucleotide primer extension method. No evidence of association between the 677TT genotype of MTHFR gene and DM [cases: TT = 10/95 (10.6 percent); controls: TT = 14/107 (13 percent)] or with severity of DR was observed [cases: TT = 5/60 (8.5 percent); controls: TT = 9/81 (11.1 percent); P > 0.05]. We also did not find evidence of an association between APOE alleles and proliferative DR (epsilon2, epsilon3 and epsilon4 in cases: 9, 76, and 15 percent, and in controls: 5, 88, and 12 percent, respectively) but the carriers of epsilon2 allele were more frequent among patients with type 2 DM and DR than in controls [cases: 15/95 (15.8 percent); controls: 7/107 (6.5 percent); P < 0.05]. Therefore, our results suggest that the epsilon2 allele/APOE might be a risk factor for diabetes in the Brazilian population.
Subject(s)
Humans , Middle Aged , Apolipoproteins E/genetics , Diabetes Mellitus, Type 1/genetics , /genetics , Diabetic Retinopathy/genetics , /genetics , Alleles , Case-Control Studies , Gene Frequency , Genetic Predisposition to Disease , Genotype , Polymerase Chain Reaction , Polymorphism, Genetic , Risk Factors , Severity of Illness IndexABSTRACT
Os abscessos esplênicos constituem uma patologia incomum, encontrada em 0,14 a 0,7 por cento em séries de necropsias. O diagnóstico geralmente é difícil, pois sua apresentaçäo clínica é inespecífica1. Caso o diagnóstico e o tratamento näo sejam realizados precocemente, a evoluçäo fatal é freqüente2,3. Os autores relatam um caso de abscesso esplênico, e enfatizam a terapêutica adotada, que foi exclusivamente clínica, numa patologia onde a conduta praticamente padronizada é a esplenectomia ou drenagem percutânea, ambos acompanhados de antibioticoterapia.
Subject(s)
Humans , Male , Adult , Abscess , Splenic Diseases , Anti-Infective Agents , Cephalosporins , Metronidazole , Splenic DiseasesABSTRACT
1. The role of testosterone (T) in growth was evaluated in 11 prepubertal hypopituitary males during two 15-day periods separated by a 4-week interval, i.e., before (PRE-T period) and during T ester treatment (50 mg every 5 days, 3 im doses-T period). 2. T increased growth hormone (GH) secretion, assessed by 4-h rhythm (mean +/- SEM = 1.90 +/- 0.27 vs 1.77 +/- 0.21 ng/ml; P < 0.05) and after a GHRH stimulus (3.42 +/- 0.54 vs 3.08 +/- 0.43 ng/ml; P < 0.05) as compared to the PRE-T period. 3. T also increased basal somatomedin-C (SM-C) levels (0.20 +/- 0.03 vs 0.15 +/- 0.02 U/ml; P < 0.001) and SM-C generation. After GH was administered in 4 im doses (0.01, 0.02, 0.05 and 0.1 U/kg), SM-C levels were 0.31 +/- 0.08 vs 0.24 +/- 0.07 U/ml, P < 0.001. T did not change incremental (absolute minus basal) SM-C levels (0.15 +/- 0.08 vs 0.12 +/- 0.07 U/ml; P > 0.05). 4. The results suggest that T increased plasma SM-C levels by stimulating residual GH secretion in hypopituitary males