A5053015353- Diabetes and associated disorders
- Diabetes Management and Research
- Pancreatic function and diabetes
- Lipoproteins and Cardiovascular Health
- Lipid metabolism and disorders
- Cancer, Lipids, and Metabolism
- SARS-CoV-2 and COVID-19 Research
- Monoclonal and Polyclonal Antibodies Research
- Parkinson's Disease Mechanisms and Treatments
- SARS-CoV-2 detection and testing
- Viral gastroenteritis research and epidemiology
- MicroRNA in disease regulation
- Immunodeficiency and Autoimmune Disorders
- Renal and related cancers
- Chronic Lymphocytic Leukemia Research
- Acute Lymphoblastic Leukemia research
- Glycosylation and Glycoproteins Research
- Neurological disorders and treatments
- Growth Hormone and Insulin-like Growth Factors
- Long-Term Effects of COVID-19
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Protein purification and stability
- Genomic variations and chromosomal abnormalities
Ljubljana University Medical Centre
2019-2024
University of Ljubljana
2019-2024
Uniwersytecki Szpital Dziecięcy
2023
Children's Clinical University Hospital
2023
OBJECTIVE We evaluated the safety and efficacy of day-and-night fully closed-loop insulin therapy using faster (Faster-CL) compared with standard aspart (Standard-CL) in young adults type 1 diabetes. RESEARCH DESIGN AND METHODS In a double-blind, randomized, crossover trial, 20 participants diabetes on pump (11 females, aged 21.3 ± 2.3 years, HbA1c 7.5 0.5% [58.5 5.5 mmol/mol]) underwent two 27-h inpatient periods unannounced afternoon moderate-vigorous exercise unannounced/uncovered meals....
Monogenic obesity is a severe, genetically determined disorder that affects up to 1/1000 newborns. Recent reports on potential new therapeutics and innovative clinical approaches have highlighted the need for early identification of individuals with rare genetic variants can alter functioning leptin-melanocortin signalling pathway, in order speed intervention reduce risk chronic complications. Therefore, next-generation DNA sequencing central genes pathway was performed 1508 children...
Objective: The major part of craniopharyngioma (CP) morbidity is the tumor and/or treatment-related damage, which results in impaired function hypothalamic-pituitary axes and metabolic derangements. aim study was to analyze prevalence long-term endocrine comorbidities a national cohort CP patients based on age at diagnosis histology criteria. Design: A retrospective-prospective longitudinal analysis. Methods: Forty-six with treated from 1979 onwards (19 childhood-onset disease) single...
The response to dopaminergic treatments in Parkinson's disease depends on many clinical and genetic factors. very common motor fluctuations dyskinesia affect approximately half of patients after five years treatment with levodopa. We did an evaluation a combined effect 16 parameters 34 single nucleotide polymorphisms build clinical-pharmacogenetic models for prediction time occurrence complications compare their predictive abilities. In total, 220 were included the analysis. Their...
Heterozygous variants in the NPR2 gene, which encodes B-type natriuretic peptide receptor (NPR-B), a regulator of skeletal growth, were reported 2–6% cases idiopathic short stature (ISS). Using next-generation sequencing (NGS), we aimed to assess frequency our study cohort consisting 150 children and adolescents with ISS, describe phenotypic spectrum growth pattern including birth data, response hormone (GH) treatment. A total ten heterozygous pathogenic/likely pathogenic two uncertain...
In this study, we aimed to identify patients within our B-ALL cohort with altered PAX5. Our objective was use a comprehensive analysis approach characterize the types of genetic changes, determine their origin (somatic/germline), and analyze clinical outcomes associated them. A consecutive 99 treated at Children’s Hospital UMC Ljubljana according ALL IC-BFM 2009 protocol included in study. We used RNA sequencing data for gene expression analysis, fusion detection single nucleotide variant...
Background Prolonged hyperglycemia causes diabetes-related micro- and macrovascular complications, which combined represent a significant burden for individuals living with diabetes. The growing scope of evidence indicates that affects the development vascular complications through DNA methylation. Methods A genome-wide differential methylation analysis was performed on pooled peripheral blood samples from type 1 diabetes (T1D) direct sequencing. Strict selection criteria were used to ensure...
Introduction Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have range of symptoms, while homozygous LPL deficiency presents with severe symptoms including acute pancreatitis, xanthomas, lipemia retinalis. Methods We described clinical characteristics three Slovenian (an 8-year-old female, an 18-year-old man, 57-year-old...
This study evaluates long-read and short-read sequencing for mitochondrial DNA (mtDNA) heteroplasmy detection. 592,315 bootstrapped datasets generated from two single-nucleotide mismatched ultra-deep sequenced mtDNA samples were used to assess basecalling error accuracy, limit of detection, detection across various coverage depths. Results showed high Phred scores data with GC-rich sequence bias long reads. Limit 12% was identified, showing strong correlation (R2 ≥ 0.955) expected but...
Abstract Background The most common psychiatric complications due to dopaminergic treatment in Parkinson’s disease are visual hallucinations and impulse control disorders. Their development depends on clinical genetic factors. Methods We evaluated the simultaneous effect of 16 34 variables occurrence Altogether, 214 patients were enrolled. demographic, clinical, genotype data obtained. Clinical clinical-pharmacogenetic models built by Least Absolute Shrinkage Selection Operator penalized...
BackgroundSequencing of SARS-CoV-2 PCR-positive samples was introduced in Slovenia January 2021. Our surveillance programme comprised three complementary schemes: (A) non-targeted sequencing at least 10% samples, (B) positive after PCR screening for variants concern (VOC) and (C) as per epidemiological indication.AimWe present the analysis cumulative data variant-dependent growth kinetics five most common first 9 months 2021.MethodsSARS-CoV-2 from to September 2021, were selected according...
Our study aimed to identify relevant transcriptomic biomarkers for the Wilms tumor, most common pediatric kidney cancer, independent of histological type and stage. Using next-generation sequencing, we analyzed miRNA profiles 74 samples, which were divided into two groups: fresh frozen tissue formalin-fixed paraffin-embedded samples. Subsequent mRNA expression profiling pathway analysis performed establish interplay potential involvement miRNAs in tumor. Comparative analysis, irrespective...
Our aim was to determine whether child attachment parents, parent style, and morning cortisol levels were related diabetes outcomes measured by average glycated hemoglobin (HbA1c), HbA1c variability over 4 years time in range (TIR) children with type 1 (T1D). 101 T1D one of their parents assessed at baseline for (Child Attachment Interview; CAI) (Relationship Structures Questionnaire; ECR-RS). Serum samples collected measurements before the interviews. during a 4-year follow-up period...
Recurrent cardiovascular events remain an enigma that accounts for >30% of deaths worldwide. While heredity and human genetics variation play a key role, host–environment interactions offer sound conceptual framework to dissect the molecular basis recurrent from genes proteins metabolites, thus accounting environmental contributions as well. We report here multiomics systems science approach so map interindividual variability in susceptibility events. First, we performed data text mining...
Abstract Affinity chromatography is the linchpin of antibody downstream processing and typically relies on bacterial immunoglobulin (Ig)-binding proteins, epitomized by staphylococcal protein A-based ligands. However, such affinity ligands are fairly costly suffer from chemical instability, leading to ligand denaturation leaching chromatographic support. Innovations in this area aimed at developing robust highly selective capable withstanding harsh column sanitization conditions. We report...
Aim: To evaluate the accuracy of two PCR-based techniques for detecting SARS-CoV-2 variant Alpha (B.1.1.7). Materials & methods: A multicenter prospective cohort with 1137 positive specimens from Slovenia was studied. mutation-based assay (rTEST-COVID-19 qPCR B.1.1.7 assay) and amplification curve pattern analysis Allplex were compared whole-genome sequencing. Results: detected in 155 samples (13.6%). Sensitivity specificity 98.1 98.0%, respectively, rTEST-COVID-19 97.4 97.5%, analysis....
Background: Due to nonspecific symptoms, rare dyslipidaemias are frequently misdiagnosed, overlooked, and undertreated, leading increased risk for severe cardiovascular disease, pancreatitis and/or multiple organ failures before diagnosis. Better guidelines the recognition early diagnosis of urgently required. Methods: Genomic DNA was isolated from blood samples a Pakistani paediatric patient with hypertriglyceridemia, his parents siblings. Next-generation sequencing (NGS) performed, an...