A5033484027- Glioma Diagnosis and Treatment
- Hemophilia Treatment and Research
- Acute Lymphoblastic Leukemia research
- Childhood Cancer Survivors' Quality of Life
- Folate and B Vitamins Research
- RNA modifications and cancer
- Neonatal Health and Biochemistry
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Hemostasis and retained surgical items
- Blood groups and transfusion
- Blood Coagulation and Thrombosis Mechanisms
- Growth Hormone and Insulin-like Growth Factors
- Pituitary Gland Disorders and Treatments
- Hemoglobinopathies and Related Disorders
- Orthopaedic implants and arthroplasty
- Immune Cell Function and Interaction
- Cancer-related molecular mechanisms research
- Hematopoietic Stem Cell Transplantation
- Blood disorders and treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Blood donation and transfusion practices
- Autoimmune and Inflammatory Disorders Research
- Regional Development and Management Studies
- Adrenal Hormones and Disorders
Ljubljana University Medical Centre
2015-2025
University of Ljubljana
2019-2021
Uniwersytecki Szpital Dziecięcy
2021
Children's Clinical University Hospital
2021
Infant high-grade gliomas appear clinically distinct from their counterparts in older children, indicating that histopathologic grading may not accurately reflect the biology of these tumors. We have collected 241 cases under 4 years age, and carried out histologic review, methylation profiling, custom panel, genome, or exome sequencing. After excluding tumors representing other established entities subgroups, we identified 130 to be part an "intrinsic" spectrum disease specific infant...
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...
Abstract Background The international, multicenter registry LOGGIC Core BioClinical Data Bank aims to enhance the understanding of tumor biology in pediatric low-grade glioma (pLGG) and provide clinical molecular data support treatment decisions interventional trial participation. Hence, question arises whether implementation RNA sequencing (RNA-Seq) using fresh frozen (FrFr) tissue addition gene panel DNA methylation analysis improves diagnostic accuracy provides additional benefit. Methods...
Abstract Background Repeated haemarthroses affect approximately 90% of patients with severe haemophilia and lead to progressive arthropathy, which is the main cause morbidity in these patients. Diagnostic imaging can detect even subclinical arthropathy changes may impact prophylactic treatment. Magnetic resonance imagining (MRI) generally gold standard tool for precise evaluation joints, but it not easily feasible regular follow-up haemophilia. The development standardized ultrasound (US)...
ABSTRACT Background Physical activity is now considered generally beneficial for persons with haemophilia (PWH). However, the specific type and extent of its impact on quality life (QoL) bleed protection during exercise under‐researched. This knowledge gap should significantly PWH's ability to manage their condition optimally. Objective To explore levels physical understand among PWH as part Liberate Life project. Methods A web‐based survey was conducted across eight European countries...
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...
Introduction Progressive arthropathy is the main cause of morbidity in patients with severe haemophilia. Diagnostic imaging can detect even subclinical and impact prophylactic treatment. However, most clinical settings regular joint evaluation follow-up are based on patient's personal reporting problems, while diagnostic not regularly employed. Aim The aim our prospective study was to assess how ultrasound (US), examination, subjective assessment certain laboratory biomarkers correlate...
Ultrasound (US) has been proven to be reliable in the assessment of early haemophilic arthropathy adult population, however few studies so far focused on reliability US specifically paediatric population. We were interested if changing appearance growing bone hinders ultrasonographic evaluation pathologic processes caused by arthropathy. The aim study was assess for children comparison magnetic resonance imaging (MRI).The included all aged 6 years or more with severe haemophilia country (n =...
We investigated the clinical relevance of SLC 19A1 genetic variability for high dose methotrexate (HD-MTX) related toxicities in children and adolescents with acute lymphoblastic leukaemia (ALL) non Hodgkin malignant lymphoma (NHML).Eighty-eight ALL/NHML were influence single nucleotide polymorphisms (SNPs) haplotypes on HD-MTX induced toxicities.Patients rs2838958 TT genotype had higher probability mucositis development as compared to carriers at least one C allele (OR 0.226 (0.071-0.725),...
Information about the impact of hemophilia on daily living and information preferences for patients their caregivers in Central Europe has been limited.This cross-national survey was conducted between April 1 October 15, 2020 utilized a self-administered questionnaire to collect data (Typeform™) from people with Bulgaria, Croatia, Czech Republic, Hungary, Slovakia Slovenia. The included 22 questions regarding difficulties life receiving hemophilia-related information. Respondents were...
Abstract Background. We evaluated the influence of folate pathway polymorphisms on high-dose methotrexate (HD-MTX) related toxicity in paediatric patients with T-cell non-Hodgkin lymphoma (NHL). Patients and methods. In total, 30 NHL were genotyped for selected polymorphisms. Results. Carriers at least one MTHFR 677T allele had significantly higher MTX area under time-concentration curve levels third cycle (P = 0.003). These also odds leucopoenia 0.006) or thrombocytopenia 0.041) number...
florio® HAEMO is a hemophilia treatment monitoring application (app) offering activity tracking and wearable device connectivity. Its use might support everyday activities for people with hemophilia. The aim of this study was to evaluate user satisfaction, long-term usage the impact on data entry when pairing app. This follow-up two-part survey conducted in Central Europe. People parents/caregivers children using florio who completed part one were invited complete second online questionnaire...
: The development of neutralizing antibodies is a rare complication von Willebrand disease treatment. In major surgical procedures for severe forms the disease, recognition ineffective therapy and alternative treatment protocols are lifesaving. We report case 6-year-old girl with type 3 in whom inhibitors were sought due to haemostasis together lower than expected factor (VWF) recoveries after procedure. Replacement first recombinant VIIa then high doses VIII continuous infusion successfully...
Introduction Adherence to a prophylactic therapy is obligatory prevent bleeding in patients with haemophilia. It has already been recognized that depression associated treatment adherence. Aim The aim of this study was examine the prevalence depressive symptoms adults haemophilia using an instrument designed or validated for diagnosing screening and investigate association nonadherence from two East European countries. Methods Adult severe moderate receiving prophylaxis were eligible study....
neoperabilnim LGG,
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis early initiation treatment. We presented the follow up only two Slovenian patients diagnosed with HT1. Metabolic control was monitored by measuring tyrosine, phenylalanine succinylacetone from dried blood spots (DBSs). Retrograde HT1 performed DBSs taken at birth using tandem mass spectrometry. First patient...