125 research outputs found

    Genetics of Type 1 Diabetes

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    Changes of Defense Mechanisms and Personality Profile during Group Analytic Treatment

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    Researching efficiency of group-analytic treatment and following Foulkesā€™ principle of the Ā»group-as-a-wholeĀ«, the methodology was applied. That enabled the evaluation of expected changes of group members individually, as well as the group-as-a-whole. In this study three small groups (20 patients) were followed up and changes were evaluated after second and after fourths years of group analysis. Two measuring instruments ā€“ The Life Style Index and Defence Mechanisms Scale (LS-DM) and Minnesota Multiphase Personality Inventory (MMPI-201) were applied. Each member of the group was assessed by self-evaluation as well as the group-as-a-whole. The results of the research indicated that changes of the personality occurred. Changes consisted in lowering of defensive activities that was tending towards more mature defences. Changes also consisted in lowering ratings on the pathological parts of the MMPI-scales reflecting shifting of the conflict level. The results could be predictive for positive outcome of group analysis. More studies are needed

    Hepatic and Pancreatic Glycosphingolipid Phenotypes of the Neurological Different Rat Strains

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    Among three commonly used strains of laboratory rats,Wistar rats perform more neurological tasks better then Lewis and Sprague-Dawley (SD) rats. Liver is the main site of insulin-like growth factor (IGF) production and pancreas is the exclusive site of insulin production. Insulin stimulates neuronal development and appropriate IGF-I input is critical in brain growth. Glycosphingolipids (GSLs) are important mediators of insulin secretion and action. Therefore, this study investigated GSL phenotypes of liver and pancreas with hypothesis that they are different in three rat strains. Total GSL fractions (neutral and gangliosides) were analysed by high performance thin-layer chromatography (HPTLC). Complex gangliosides were detected by HPTLC immunostaining using cholera toxin B subunit after neuraminidase pretreatment. Wistar rats had the highest liver weight/body weight ratio and SD rats had the highest pancreas weight/body weight ratio. Ganglioside GM3 was more expressed in the liver of Wistar compared to Lewis and SD rats. SD rats contained scarce quantities of GD1a and b-series gangliosides in the liver compared to Wistar and Lewis rats. Pancreatic b-series ganglioside content was also the lowest in SD rats. This study represents differences in the hepatic and pancreatic ganglioside phenotypes of three rat strains that could influence IGF and insulin secretion and action

    Hepatic and Pancreatic Glycosphingolipid Phenotypes of the Neurological Different Rat Strains

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    Among three commonly used strains of laboratory rats,Wistar rats perform more neurological tasks better then Lewis and Sprague-Dawley (SD) rats. Liver is the main site of insulin-like growth factor (IGF) production and pancreas is the exclusive site of insulin production. Insulin stimulates neuronal development and appropriate IGF-I input is critical in brain growth. Glycosphingolipids (GSLs) are important mediators of insulin secretion and action. Therefore, this study investigated GSL phenotypes of liver and pancreas with hypothesis that they are different in three rat strains. Total GSL fractions (neutral and gangliosides) were analysed by high performance thin-layer chromatography (HPTLC). Complex gangliosides were detected by HPTLC immunostaining using cholera toxin B subunit after neuraminidase pretreatment. Wistar rats had the highest liver weight/body weight ratio and SD rats had the highest pancreas weight/body weight ratio. Ganglioside GM3 was more expressed in the liver of Wistar compared to Lewis and SD rats. SD rats contained scarce quantities of GD1a and b-series gangliosides in the liver compared to Wistar and Lewis rats. Pancreatic b-series ganglioside content was also the lowest in SD rats. This study represents differences in the hepatic and pancreatic ganglioside phenotypes of three rat strains that could influence IGF and insulin secretion and action

    NeuroD1 Gene and Interleukin-18 Gene Polymorphisms in Type 1 Diabetes in Dalmatian Population of Southern Croatia

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    Aim: To evaluate the frequency of known polymorphisms in the exon 2 of the NeuroD1 gene and in the interleukin (IL)-18 promoter region in patients with type 1 diabetes mellitus (T1DM) and in healthy control subjects in Dalmatia, Southern Croatia. Methods: A total of 134 unrelated patients (73 men and 61 women) and 132 consecutive unrelated healthy controls (61 men and 71 women) from the Dalmatian region of southern Croatia were recruited for the study. NeuroD1 genotypes (GG, GA, AA) were identified by means of polymerase chain reaction followed by restriction fragment length polymorphism (PCR/RFLP). IL-18 polymorphism in the position ā€“137 of the promoter region was detected by using PCR sequence-specific primers. Results: Genotype distributions of both genes did not show significant difference between patients and controls. Conclusion: Our results suggest that NeuroD1 exon 2 and IL-18 promoter gene polymorphisms are not associated with development of T1DM susceptibility in the population of South Croatia. In addition to previously published positive correlations of these polymorphisms with development of T1DM among different world populations, our findings indicate the existence of ethnic variations in the association of these genes with disease development

    Retinopathy and Nephropathy in Type 1 Diabetic Patients ā€“ Association with Polymorphysms of Vitamin D-Receptor, Tnf, Neuro-D and Il-1 Receptor 1 Genes

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    Retinopathy and nephropathy are common late type 1 diabetes mellitus (T1D) complications. In this study we investigated whether individual differences in 4 candidate genes significantly contribute to development and progression of late complications in T1D patients. We examined 121 patients for the presence of diabetic retinopathy and nephropathy. We genotyped variants in vitamin D receptor (VDR) and tumor necrosis factor (TNF) genes in 47 patients and in NeuroD1 and interleukin-1 receptor 1 (IL1R1) genes in 35 patients. Diabetic retinopathy had 66 (55%) patients after a median of 13.0 years after diagnosis. Diabetic nephropathy had 14 (11.66%) patients, all of whom had already developed retinopathy. A significant correlation between the degree of diabetic retinopathy and mean microalbuminuria (MA) value has been found (c2=54.18, p<0.001). After correcting for duration of disease, only the VDR gene BsmI genotypes showed significant association with cumulative prevalence of diabetic retinopathy, while no investigated genetic polymorphysms could reliably predict diabetic nephropathy

    Common Variants in SLC17A3 Gene Affect Intra-personal Variation in Serum Uric Acid Levels in Longitudinal Time Series

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    Aim To investigate whether intra-personal variation in serum uric acid concentration is influenced by genes that were described to be associated with serum uric acid levels in cross-sectional studies. Methods The study included 92 participants from the isolated community of the Croatian island of Vis. For each participant, two uric acid concentration measurements were available, one from 2002 and one from 2003. Changes in uric acid concentration were correlated with a set of 8 genes known to affect it: PDZK1, GCKR, SLC2A9, ABCG2, LRRC16A, SLC17A3, SLC16A9, and SLC22A12. Results Thirteen participants (14%) had uric acid concentration change greater than 130 Ī¼mol/L. Greater variability of uric acid concentration was recorded in women (coefficient of variation 49% vs 12% in men). Two single-nucleotide polymorphisms (SNP) belonging to SLC17A3 gene (rs9393672 and rs942379) yielded significant association with serum uric acid concentration changes in women. These two SNPs explained 0.2%-1.3% of variance for 2002 or 2003 uric acid measurement and 1.1%-1.8% of variance for the average value of these two measurements. Conclusions Repeated measurements offer a possibility to enrich the percent of explained variance and contribute to the understanding of the ā€œmissing heritabilityā€ concept. Although a number of genes have been shown to affect serum uric acid concentration, SLC17A3 seems to have a major role in determination of serum uric acid repeated measurements variation

    Analysis of the C609T Polymorphism of NQO1 Gene in South Croatian Patients with Hematological Malignancies

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    In this study we analyzed the effect of polymorphic variation of NAD(P)H: quinone oxidoreductase1 (NQO1) gene that encode enzyme which detoxifies harmful quinines and protect hematopoietic stem cells against oxidative stress. C609T polymorphism of NQO1 gene leads to loss of enzyme activity, which may be a risk factor in the etiology of specific types of hematopoietic malignancies.We analyzed C609T polymorphism in NQO1 gene in the group of 82 patients (56 adult and 26 children) with different type of hematopoietic malignancies and 99 healthy participants (61 adult and 38 children) using PCR and the RFLP method. We confirmed that the polymorphism C609T in NQO1 gene was more frequent in the adult patientsā€™ group with myeloid disorders, (p=0.0267) compared with adult controls.We could not confirm the association C609T polymorphism with recurrent chromosome translocations (clonal karyotype changes) neither in the adult nor in pediatric group of patients

    Thyroid Hormones Are Not Associated with Plasma Osteocalcin Levels in Adult Population with Normal Thyroid Function

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    Thyroid hormones (THs) play an indispensable role in skeletal development and bone remodeling. Some studies have reported associations of THs with serum osteocalcin (OC) levels, but the results are quite inconsistent and the molecular mechanism of their simultaneous or interdependent activity on bone is almost unknown. Therefore, the aim of this study was to determine the possible associations of plasma THs with plasma OC levels and the possible mediating effect of OC on the relationship between THs and bone mineral density (BMD). For this purpose, out of the initial 1981 participants, we selected healthy euthyroid participants controlled for available confounding factors that can affect thyroid function and bone metabolism (N = 694). Given our results, we could not confirm any associations of THs with plasma OC levels nor the mediating effect of OC on the relationship between THs and BMD in euthyroid population. In the group of women controlled for menopause status (N = 396), we found a significant negative association of body mass index (BMI) with OC levels (Ī² = āˆ’0.14, p = 0.03). We also found a negative association of free triiodothyronine (fT3) (Ī² = āˆ’0.01, p = 0.02) and age (Ī² = āˆ’0.003, p < 0.001) with BMD, and a positive association of BMI (Ī² = 0.004, p < 0.001) and male gender (Ī² = 0.1, p < 0.001) with BMD. In addition, we found significantly higher plasma OC levels and lower values of BMD in postmenopausal euthyroid women compared with premenopausal euthyroid women. In our opinion, the results of previous studies suggesting an association between circulating THs and serum OC levels may be influenced by an inconsistent selection of participants and the influence of confounding factors
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