The study analysed novel clinical and laboratory results from a cohort of patients with x-linked agamaglobulinemia in Slovenia and Central-Eastern Europe. Correlations of genotype with clinical phenotype and course of disease were of special interest. BTK sequence analysis revealed 98 different mutations, 46 of which are reported for the first time here. The mutations included single nucleotide changes in the coding exons (35 missense and 17) nonsense), 23 splicing defects, 13 small deletions, 7 large deletions, and 3 insertions.
COBISS.SI-ID: 25582041
A statistically significant correlation between CC homozygosity for CAT (rs10836235 (c.66 + 78C ) T)) and cardiac damage after anthracycline exposure (p = 0.020) was found. No statistically significant correlation between cardiac damage after anthracycline exposure and deactivating variants of SOD2 [rs4880 (-9Val ) Ala)], CAT [rs1001179 (-262C ) T), GSTT1, and GSTM1 were observed.
COBISS.SI-ID: 2622577
Results of the study revealed an independent association of the functionally relevant genetic polymorphisms in the oxidative stress related genes and diabetic retinopathy in patients with type 1 diabetes. The identification of these polymorphisms could help in identifying the metabolic control independent risk for an early development of this chronic complication of diabetes.
COBISS.SI-ID: 26494169
The cross-sectional survey on a representative sample of Slovenian adolescents demonstrated that the daily salt intake is on average above the recommendation; however, this ensures an adequate intake of iodine with the current iodination of dietary salt.
COBISS.SI-ID: 26252249
The EURODIAB study group prospectively registered data on the incidence of type 1 diabetes in childhood, calculated yearly incidences and trends in the increase in incidence. From the obtained results a trend prediction for the next 15 years was calculated for different regions in Europe.
COBISS.SI-ID: 26733785