This randomized, two-arm, parallel, controlled, two-center open-label study included 100 children and adolescents with type 1 diabetes and glycated hemoglobin A1c ?10% (?86 mmol/mol) and using continuous subcutaneous insulin infusion. Patients were randomly assigned to either an intervention group with PLGM features enabled (PLGM ON) or a control group (PLGM OFF), in a 1:1 ratio, all using the same type of sensor-augmented insulin pump. The number of hypoglycemic events below 65 mg/dL (3.6 mmol/L) was significantly smaller in the PLGM ON compared with the PLGM OFF group (mean ± SD 4.4 ± 4.5 and 7.4 ± 6.3, respectively; P = 0.008). No severe hypoglycemic events occurred; however, there was a significant increase in time spent above 140 mg/dL (7.8 mmol/L) in the PLGM ON group (P = 0.0165). The PLGM insulin suspension was associated with a significantly reduced number of hypoglycemic events. Although this was achieved at the expense of increased time in moderate hyperglycemia, there were no serious adverse effects in young patients with type 1 diabetes.
COBISS.SI-ID: 3683756
Hyperglycemia and abnormal blood glucose levels induce oxidative stress, promote the development of microvascular and macrovascular complications. We expand these data in a pediatric population at the onset of type 1 diabetes by assessing the association between telomere length and age or HbA1c level, with a longitudinal study evaluating the association of glycemic control and associated cell stress with telomere dynamics during a 7-year follow-up. Oxidative stress was significantly associated with poor metabolic control, as was telomere attrition. Both were also associated with increase glucose variability.
COBISS.SI-ID: 5005740
The pooled-DNA GWAS analysis included Slovenian obese children and adolescents with and without IR matched for body mass index, gender and age. A replication study was conducted in another independent cohort with or without IR. We used HumanOmni5-Quad SNP array (Illumina). Allele frequency distributions were compared with modified t-tests and ?2-tests and ranked using PLINK. Top single nucleotide polymorphisms (SNPs) were validated using individual genotyping by high-resolution melting analysis and TaqMan assay. We identified five top-ranking SNPs from the pooled-DNA GWAS analysis within the ECE1, IL1R2, GNPDA1, HLA-J and PYGB loci. All except SNP rs9261108 (HLA-J locus) were confirmed in the validation phase using individual genotyping. The SNP rs2258617 within PYGB remained statistically significant for both recessive and additive models in both cohorts and in a merged analysis of both cohorts and present the strongest novel candidate gene for IR. We report for the first time a pooled-DNA GWAS approach to identify five novel SNPs or genes for IR in a paediatric population. The four loci confirmed in the second validation phase study warrant further studies, especially the strongest SNP rs2258617 within PYGB, and provide targets for further basic research of IR mechanisms and for the development of potential new IR and T2D therapies.
COBISS.SI-ID: 4003720
Prevalence of complement deficiencies (CDs) is markedly higher in Slovenian primary immunodeficiency (PID) registry in comparison to other national and international PID registries. CD was confirmed with genetic analyses in patients with C2 deficiency, C8 deficiency, and hereditary angioedema or with repeated functional complement studies and measurement of complement components in other CD. Genetic analyses confirmed markedly higher prevalence of CD in Slovenian PID registry (26% of all PID) than in other national and international PID registries (0.5–6% of all PID). Complement functional studies and complement component concentrations reliably distinguished between homozygous and heterozygous CD carriers. Subjects with partial CD had higher risk for characteristic infections than previously reported.Results of our study imply under-recognition of CD worldwide.
COBISS.SI-ID: 4891564
We aimed at assessing the influences of metabolic control and ApoE genotypes on lipid profiles and the prevalence of dyslipidemia in children, adolescents and young adults with type 1 diabetes. Children, adolescents and young adults with type 1 diabetes from our nationwide cohort. 467 patients were included in the data analysis: 226 female (48.4%), mean age 14.71?±?5.09 years and diabetes duration 6.74?±?4.54 years. Mean HbA1c was 61?±?5?mmoL/mol (7.71?±?1.22%), with no gender-related differences. Females had higher mean total cholesterol (p?(?0.001), LDL-C (p?=?0.005), HDL-C (p?(?0.001), non-HDL-C (p?=?0.003), and ApoB levels (p?(?0.001). 26.3% of participants had LDL-C levels above the type 1 diabetes LDL-C-goal of 2.6?mmoL/L, and 19.5% had elevated/borderline-elevated lipoprotein(a) (Lp(a)). HbA1c levels were positively related to higher levels of LDL-C (p?=?0.0070) and Lp(a) (p?=?0.0020). Participants with ApoE4(e3/e4) allele had higher levels of LDL-C (p?=?0.010), independently of HbA1c. Females and subjects with suboptimal metabolic control had more adverse lipid profiles.
COBISS.SI-ID: 4839340