A5003458621- Diabetes and associated disorders
- Diabetes Management and Research
- Pancreatic function and diabetes
- Cystic Fibrosis Research Advances
- Celiac Disease Research and Management
- Diabetes Treatment and Management
- Hypothalamic control of reproductive hormones
- T-cell and B-cell Immunology
- Digestive system and related health
- Urticaria and Related Conditions
- Erythrocyte Function and Pathophysiology
- Growth Hormone and Insulin-like Growth Factors
- Lipoproteins and Cardiovascular Health
- Gender Studies in Language
- Atherosclerosis and Cardiovascular Diseases
- Cardiac electrophysiology and arrhythmias
- Health and Lifestyle Studies
- Ovarian function and disorders
- Cardiac pacing and defibrillation studies
- Mobile Health and mHealth Applications
- Immune Cell Function and Interaction
- Immunodeficiency and Autoimmune Disorders
- Microbial Metabolic Engineering and Bioproduction
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Galectins and Cancer Biology
Ljubljana University Medical Centre
2014-2025
University of Ljubljana
2020-2025
Uniwersytecki Szpital Dziecięcy
2022
Children's Clinical University Hospital
2022
University of Colorado Health
1992
Shared susceptibility alleles in the HLA region contribute to co-existence of type 1 diabetes (T1D) and celiac disease (CD). The aim our study was identify genotype variations that influence co-occurrence T1D CD (T1D + CD) order their onset. Totally 244 patients, 67 with T1D, 68 69 CD, (split into "T1D first" "CD first"), were analyzed. Control group consisted 130 healthy unrelated individuals. Two-tailed Fisher's exact test used for statistical analysis. genetic background Slovenian...
Celiac disease (CD) is more common in individuals with insulin dependent diabetes mellitus (T1D) than the general population. HLA class II molecules DQ8 (DQB1*0302-DQA1*0301) and DQ2 (DQB1*0201-DQA1*0501) have been identified as key genetic risk factors both diseases. While conveys a higher for T1D, frequent CD. Less known about contribution of I. The gut immune system has implicated pathogenesis MICA, which mainly expressed gastrointestinal epithelium recognized by γδT lymphocytes natural...
Background: We recently reported that use of an "advanced" hybrid closed-loop system reduced hyperglycemia without increasing hypoglycemia compared to a first-generation system. The aim this analysis was evaluate whether improved performance specifically related better mealtime glycemic control. Methods: conducted secondary postprandial control in open-label, multinational, randomized crossover trial 112 participants with type 1 diabetes, aged 14-29, the Medtronic MiniMed™ 670G (670G) versus...
Abstract The prevalence of celiac disease ( CD ) in patients with type 1 diabetes T1D has been reported to be 5–7 times higher than the general population. Risk factors for co‐occurrence both diseases have not entirely established. aim our study was analyze possible impact human leukocyte antigen HLA class I and killer cell immunoglobulin‐like receptors KIRs on . We analyzed 67 , 68 69 + 130 controls. Statistical analysis based two tailed Fisher exact test corrections multiple testing. After...
Analysis of TCR beta-chain V region (V beta) frequency among NOD lymphocytes reveals a profound depletion beta 3+ T cells, and recent study has linked this phenomenon to the Mtv-3 insertion on chromosome 11. When 17a gene segment is introduced into mice with an nonobese diabetic mouse background, cells bearing encoded by are also dramatically reduced in frequency. Deletion 17a+ segregates deletion 3 occurs absence I-E, which had been shown previous studies be major deleting element for thymocytes.
Genetic polymorphisms in genes coding for inflammasome components nucleotide-binding oligomerization domain leucine rich repeat and pyrin domain-containing protein 3 (NLRP3) caspase recruitment 8 (CARD8) have been associated with autoinflammatory autoimmune diseases. On the other hand several studies suggested that NLRP3 contributes to maintenance of gastrointestinal immune homeostasis activation is regulated by tyrosine phosphatase non-receptor 22 (PTPN22). PTPN22 polymorphism was...
The Medtronic advanced hybrid closed-loop (AHCL) and MiniMed™ 670G (HCL) systems provide the option to temporarily increase glucose target 150 mg/dL (8.3 mmol/L). This analysis investigated efficacy of AHCL compared with that HCL after use this setting. Data from 60 participants in Fuzzy Logic Automated Insulin Regulation (FLAIR) study were used compare temporary (TT), during analogous periods where setting was not used. Differences time range 70-180 between similar TT non-TT (interaction P...
Background: During coronavirus pandemic disease 2019 (COVID-19) the Government of Republic Slovenia introduced a series restrictive measures including outpatient clinics closure and cessation all elective healthcare visits. To sustain attentiveness to optimal diabetes care provision, vast majority appointments for individuals with type 1 were transitioned video digital/virtual visits.
 Methods: In this prospective observational study, we compared glycaemic control children, adolescents...
The deficiency of SHOX gene (short stature homeobox-containing gene) has been recognized as the most frequent monogenetic cause short stature. associated with in Turner syndrome and Leri Weill dyschondrosteosis well non-syndromic idiopathic aim this study was to determine frequency deletions mutations a cohort Slovenian children stature, delineate indications for routine mutation screening.40 selected subjects were screened entire deletion coding region (exon 2 6), together sequences...
<b>Introduction:</b> It is acknowledged that highly effective modulator treatment (HEMT), such as elexacaftor/tezacaftor/ivacaftor (ETI), can importantly improve quality of life eligible people with cystic fibrosis (pwCF). However, the effect HEMT on bone mineral density (BMD) unknown. The aim our prospective study was to assess effectiveness ETI BMD in children and young adults CF. <b>Methods:</b> Lumbar spine (LS) whole-body (WB) measured by dual energy X-ray absorptiometry assessed before...
Abstract Background Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically heterogeneous disease characterized by absent or incomplete puberty infertility. Clinical characteristics are secondary to insufficient gonadotropin secretion, caused deficient gonadotropin-releasing hormone (GnRH) production, action. Loss-of-function variants of the receptor (GNRHR) associated with CHH without anosmia. was previously considered permanent condition, but in past two decades,...
Background and Objectives. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It caused by the thyroid-stimulating hormone receptor (TSHR) gene variants. So far, only around 40 families with FNAH have been reported. Patients activating TSHR variants demonstrated same classical signs symptoms as seen in patients Graves’ disease. Since 2012, ablative therapy recommended to avoid relapses its consequences. Case Presentation. We...
Izhodišča: Cistična fibroza (CF) je najpogostejša kronična avtosomno recesivno dedna bolezen belcev. Kaže se s prizadetostjo številnih organov, zato bolniki spremljajo v centrih CF specializiranim multidisciplinarnim timom strokovnjakov. Eden takih center Pediatrične klinike Ljubljana, kjer vodijo vsi otroci in mladostniki Sloveniji. Od ustanovitve centra dalje vodimo zbirko podatkov o bolnikih, ki nam pomoč pri analizi razmer primerjavi kakovosti obravnave naših bolnikov z drugimi...
Abstract Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a clinically and genetically heterogeneous disease characterized by absent or incomplete puberty infertility. Clinical characteristics are secondary to insufficient gonadotropin secretion, caused deficient gonadotropin-releasing hormone (GnRH) production, action. Loss-of-function variants of the receptor (GNRHR) associated with CHH without anosmia. was previously considered permanent condition, but in past two decades,...