A5070009570- Inflammasome and immune disorders
- Acute Lymphoblastic Leukemia research
- Metabolism and Genetic Disorders
- interferon and immune responses
- Immune Cell Function and Interaction
- Animal Genetics and Reproduction
- Childhood Cancer Survivors' Quality of Life
- Immunodeficiency and Autoimmune Disorders
- Folate and B Vitamins Research
- Hemophilia Treatment and Research
- Ion channel regulation and function
- Autoimmune and Inflammatory Disorders Research
- Acute Myeloid Leukemia Research
- Mitochondrial Function and Pathology
- Phagocytosis and Immune Regulation
- Diabetes and associated disorders
- Growth Hormone and Insulin-like Growth Factors
- Congenital heart defects research
- Renal and related cancers
- Neonatal Health and Biochemistry
- Biochemical Analysis and Sensing Techniques
- Cardiac electrophysiology and arrhythmias
- Lipoproteins and Cardiovascular Health
- Milk Quality and Mastitis in Dairy Cows
- Platelet Disorders and Treatments
Ljubljana University Medical Centre
2016-2025
University of Ljubljana
2000-2025
Children's Clinical University Hospital
2011-2024
Uniwersytecki Szpital Dziecięcy
2011-2023
University Medical Center
2015-2021
Očesna Klinika UKC Ljubljana
2004-2016
University Hospital and Clinics
2015
Boston Children's Hospital
2007-2013
University Clinical Centre
2011
University of Milan
2005
PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation patients from a single tertiary care center and to determine whether variations AIM2 , MEFV NLRP3 MVK genes are involved pathogenesis. Clinical laboratory data consecutive followed up at University Children’s Hospital, Ljubljana, were collected 2008 2014. All four PCR amplified directly sequenced. Eighty‐one fulfilled criteria for syndrome, 50 (63%)...
Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade thyroid hormone synthesis that result congenital hypothyroidism (CH). peroxidase gene (TPO) mutations are one most common causes dyshormonogenesis. The aim this study was to identify TPO defects cohort patients with from Slovenia, Bosnia, and Slovakia.Forty-three permanent CH orthoptic glands 39 unrelated families participated study. Mutational analysis part its promoter consisted...
Anthracyclines have contributed significantly to the increased cure rate in pediatric oncology. Cardiac toxicity is an important late effect after anthracycline treatment and thought occur by reactive oxygen species mediated cardiac damage. We hypothesized that deactivating variants of superoxide dismutase II (SOD2) [rs4880 (−9Val > Ala)], catalase (CAT) [rs1001179 (−262C T) rs10836235 (c.66 + 78C T)], GSTT1, GSTM1 may increase risk developing toxicity, patients exposed anthracyclines. The...
The prediction of high-dose methotrexate (HD-MTX) toxicity is a key issue in the individualization treatment childhood acute lymphoblastic leukemia (ALL). Our aim was to evaluate influence MTX pathway polymorphisms on HD-MTX treat- ment outcome children with ALL. In total, 167 ALL were genotyped for methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G > A, reductase (MTHFR) 677C T and 1298A C thymidylate synthase (TYMS) 2R 3R polymorphisms. MTHFD1 1958A allele significantly reduced odds...
Extracellular vesicles with their molecular cargo can modulate target cell response and may affect the pathogenesis of diseases. The extracellular containing micro-RNAs (miRNAs), which are often studied as disease biomarkers, but rarely mediators development. role derived miRNAs in type 1 diabetes is currently not well established. We observed a fraction blood plasma positive for membrane proteins potentially associated insulin-producing beta-cells identified differentially expressed...
Abstract Introduction In the last two decades, introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing numerous acylcarnitines and amino acids from dried blood spots for detecting many aminoacidopathies, organic acidurias fatty acid oxidation disorders. The expanded newborn screening was introduced Slovenia September 2018. Seventeen metabolic diseases have been added to pre-existing panel congenital hypothyroidism phenylketonuria, program...
The molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the ATP13A3 gene were recently identified as a new cause adult-onset PAH. However, contribution risk alleles to child-onset PAH remains largely unexplored.We report three families novel, autosomal recessive form childhood-onset due biallelic variants. Disease onset ranged from birth 2.5 years and was...
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...
Background/Objectives: The microtubule-associated scaffold protein 1 (MTUS1) gene affects the microtubule stability and cell polarity in heart could thus lead to development of left ventricular noncompaction (LVNC). Pathological variants MTUS1 are associated with pathological phenotypes both cultures animal models. However, literature lacks human studies on specific effects disease, particularly congenital LVNC. Methods: We present a case male infant, diagnosed LVNC, who passed away at age 8...
Abstract Objectives Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation, with potentialy fatal outcome. Early diagnosis MCADD by acylcarnitine analysis on newborn screening using tandem mass spectrometry can potentially reduce morbidity and mortality. In this study, we evaluate the prevalence genetic background in North Macedonia. Methods Medium chain length acylcarnitines, were measured blood spot cards spectrometry. The...
Patients treated with vincristine predictably develop peripheral neuropathy. The aim of our study was to investigate the pattern vincristine-induced neuropathy in children by nerve conduction studies and somatosensory-evoked potentials (SSEPs). We included data from 39 who received for various pediatric malignancies, we performed initial follow-up (after a minimum 4 doses 1.5 mg/m) 27 patients SSEPs 34 patients. On most prevalent symptoms were paresthesias (44%) constipation (22%), common...
Defining the underlying etiology of idiopathic short stature (ISS) improves overall management an individual.To assess frequency pathogenic ACAN variants in selected individuals.The single-center cohort study was conducted at a tertiary university children's hospital. From 51 unrelated patients with ISS, 16 probands aged between 3 and 18 years (12 females) advanced bone age and/or autosomal dominant inheritance pattern were for study. Fifteen family members ACAN-positive included. Exome...
Aicardi–Goutières syndrome (AGS) is a genetically determined early-onset progressive encephalopathy caused by mutations leading to overexpression of type I interferon (IFN) and resulting in various clinical phenotypes. A gain-of-function (GOF) mutation the IFIH1 gene associated with robust production IFN activation Janus kinase (JAK) signal transducer activator transcription (STAT) pathway, which can cause AGS 7. We detail case an infant who initially presented Pneumocystis jirovecii...
Brugada syndrome is an inherited cardiac channelopathy with pathognomonic early repolarization alteration (Brugada sign) and associated a high risk for sudden death from ventricular fibrillation (VF). Documented arrhythmic events, unexpected in family members, accurate evaluation of signs syncope, genotyping SCN5A fast sodium channel Nav1.5, are the most important steps diagnostic prognostic evaluation. Treatment quinidine recently introduced catheter ablation procedure methods reducing...
This pilot study investigated the presence of potentially zoonotic microorganisms in bat species from Kopaonik National Park, Serbia. A total 40 individuals 12 were sampled and screened using microbiological molecular methods. Salmonella spp., Chlamydia Coxiella burnetii, Francisella tularensis, Leptospira Lyssavirus, Filoviridae, henipaviruses, SARS-CoV-2 not detected any bats. Coronavirus genomes confirmed four bats—one Myotis brandtii, two daubentonii, one cf. mystacinus. Sequence...
l-asparaginase is an effective antineoplastic agent used in chemotherapy of acute lymphoblastic leukemia. The drug effect may be compromised by elicited immune response, resulting the production anti-asparaginase antibodies causing anaphylactic reaction or silent inactivation enzyme. To elucidate possible genetic predisposition for inter-individual differences asparaginase hypersensitivity, we studied single nucleotide polymorphisms (SNPs) GRIA1 gene 146 pediatric patients treated with...