1. Fifteen years of pediatric immune thrombocytopenia in a national cohort : chronicity, diagnostic challenges, and treatment patterns – single center experienceKatja Pregeljc, Elena Favaretto, Federico Verzegnassi, Barbara Faganel Kotnik, 2026, izvirni znanstveni članek Povzetek: Background The majority of children with primary immune thrombocytopenia (ITP) follow a benign, self-limiting course. However, early identification of children at risk for chronic disease, timely recognition of alternative diagnoses that may mimic ITP at onset, and selection of patients for observation alone remain important clinical challenges. Methods This retrospective single-center study included patients aged ≤18 years who were evaluated for ITP between 2009 and 2024. Demographic, clinical, laboratory, and therapeutic data were collected at diagnosis and during follow-up. Factors associated with chronic ITP were assessed using logistic regression, providing odds ratios with 95% confidence intervals. Kaplan-Meier analysis was used to describe time to first bleeding complication according to initial management. Results A total of 271 patients were included (43.5% female; median age 4 years). Of these, 240 were ultimately diagnosed with ITP, while 31 received an alternative final diagnosis. In multivariate logistic regression, chronic ITP was independently associated with older age (OR 1.08; p=0.017), absence of a preceding infection or vaccination (OR 0.45; p=0.029), and higher platelet count at diagnosis (OR 1.03, p<0.0001). Compared with patients with final ITP, those with alternative causes of thrombocytopenia were older (p=0.034), had lower bleeding grades (p=0.037), higher MCV, and lower total leukocyte, lymphocyte, monocyte, and eosinophil counts at onset (all p<0.05). Patients receiving upfront pharmacological therapy were younger and presented with higher bleeding grades and lower platelet counts than those managed with observation. Bleeding complications were more frequent with upfront pharmacological therapy, whereas those in the watch-and-wait group tended to be more severe. Conclusion Our results suggest that readily available data may help identify children at risk for chronic disease and those whose thrombocytopenia is attributable to a cause other than ITP. Initial treatment decisions appeared to be driven primarily by clinical presentation.
Ključne besede: Alternative diagnoses, chronicity, complications, immune thrombocytopenia, pediatrics, watch- and-wait management
Objavljeno v DiRROS: 23.07.2026; Ogledov: 294; Prenosov: 168
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2. florio® HAEMO : a longitudinal survey of patient preference, adherence and wearable functionality in Central EuropeEster Zapotocka, Angelika Batorova, Ernest Bilić, Ana Boban, Carmen Escuriola Ettingshausen, Barbara Faganel Kotnik, Radomira Hrdlickova, Pawel Laguna, Jan Machal, László Nemes, Irena Preložnik Zupan, 2024, izvirni znanstveni članek Povzetek: Introduction: forio® 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 and the impact on data entry when pairing a wearable with a hemophilia monitoring app. Methods: This is a follow-up of a two-part user survey conducted in Central Europe. People with hemophilia and parents/caregivers of children with hemophilia using forio HAEMO and who completed part one were invited to complete a second online questionnaire at least 4 months later. Results: Fifty participants (83.3%) who completed part one of the survey continued to use the forio HAEMO app and completed part two. Of 14 participants who chose to use the app with a wearable, more than half (57.1%) were aged between 13 and 25 years. Overall, the results demonstrated that forio HAEMO is very easy or rather easy to use, especially for individuals pairing the app with a wearable. Most people using a wearable indicated that forio HAEMO was very or rather important in bringing certainty to daily activities (85.7%). Notably, 14 of 36 (38.9%) non-wearable users indicated that they would prefer to pair the app with a wearable in the future. Conclusions: Adherence to the forio HAEMO app is maintained over an extended period of use. Pairing the app with a wearable might enable easier access to app features, increase data entry motivation and provide more certainty about daily activities for people with hemophilia.
Ključne besede: hemophilia, wearable, Florio HAEMO, adherence, patient satisfaction
Objavljeno v DiRROS: 03.06.2026; Ogledov: 268; Prenosov: 169
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3. Comprehensive molecular characterization of craniopharyngiomas using whole transcriptome and spatial transcriptomics approachesŠpela Kert, Alenka Matjašič, Jože Pižem, Jernej Mlakar, Matic Bošnjak, Miha Jerala, Primož Kotnik, Barbara Faganel Kotnik, Lidija Kitanovski, Andrej Zupan, 2025, izvirni znanstveni članek Povzetek: Craniopharyngiomas (CPs) are rare benign brain tumors that are classified as WHO grade I, with two subtypes: adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP). ACP is caused by somatic mutations in exon 3 of the CTNNB1 gene activating the Wnt signaling pathway. PCP is associated with somatic BRAF p.V600E mutations activating the MAPK signaling pathway. Understanding their molecular differences is crucial for diagnosis and treatment. This study aimed to analyze common somatic alterations in ACP and PCP using bulk transcriptome sequencing and in situ spatial transcriptomics. RNA sequencing and high-resolution spatial profiling were used to detect mutations and examine gene expression differences among ACP, PCP, and healthy pituitary tissue. Whole transcriptome sequencing was performed on 24 tumor samples, with healthy pituitary data from the GTEx portal. Bioinformatics analysis utilized the CTAT mutation pipeline, with Sanger sequencing for validation. Results confirmed BRAF p.V600E mutations in all PCP samples and CTNNB1 mutations in all ACP samples. Differential gene expression analysis highlighted distinct molecular profiles and reinforced the involvement of Wnt and MAPK signaling. Spatial profiling identified 41 differentially expressed genes between ACP and PCP. This study provides critical insights into CP biology, supporting improved diagnostics and potential therapeutic strategies.
Ključne besede: craniopharyngioma, differential gene expression, in situ spatial profiling, somatic mutation detection, transcriptional analysis
Objavljeno v DiRROS: 10.04.2026; Ogledov: 375; Prenosov: 273
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4. Risk factors for venous thromboembolism in Slovenian children and adolescents : a single center experienceMineja Leban, Marko Kavčič, Jakob Peterlin, Janez Jazbec, Barbara Faganel Kotnik, 2026, izvirni znanstveni članek Povzetek: Venous thromboembolism (VTE) are rare but potentially life-threatening conditions in children, usually associated with underlying medical conditions. Some children with diagnosed VTE have genetic risk factors for the development of VTE, as well as for recurrent complications. This study reports risk factors for developing VTE in a homogeneous population of children and adolescents. A total of 155 children and adolescents, aged 0–21 years, who were diagnosed with VTE at the University Children's Hospital, UMC Ljubljana, between July 2006 and October 2021, were included. The median age at the time of the VTE diagnosis was 12.0 years (interquartile range: 1–7 years). Associated medical conditions were present in 75.5% of patients, and thrombophilia was diagnosed in 43.2% of patients. Oncological disease accounted for 27.7% of cases, while infections were found to be the most significant acquired risk factor (17.4%), followed by the presence of a central venous catheter (15.5%). Genetic thrombophilia markers were identified in 27.1% of patients, with the highest frequency in adolescents (62.5%). Factor V (FV) Leiden heterozygote was the most common marker (9.6% of patients), followed by elevated factor VIII (FVIII) activity (5.8%) and elevated Lp(a) levels (5.2%). Combined thrombophilia markers were found in 52.2% of patients. In addition to inherited thrombophilia, 83.3% of patients had acquired risk factors. Compared to previously reported prevalence, a lower occurrence of FV Leiden heterozygote, elevated Lp(a) levels, elevated FVIII activity and antiphospholipid syndrome was observed in our population.
Ključne besede: acquired risk factors, genetic thrombophilia markers, inherited thrombophilia, pediatrics, venous thromboembolism
Objavljeno v DiRROS: 13.03.2026; Ogledov: 511; Prenosov: 291
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5. Advancing allogeneic hematopoietic stem cell transplantation outcomes through immunotherapy : a comprehensive review of optimizing non-CAR donor T-lymphocyte infusion strategiesStefania Braidotti, Marilena Granzotto, Debora Curci, Barbara Faganel Kotnik, Natalia Maximova, 2024, pregledni znanstveni članek Povzetek: Optimized use of prophylactic or therapeutic donor lymphocyte infusions (DLI) is aimed at improving clinical outcomes in patients with malignant and non-malignant hematological diseases who have undergone allogeneic hematopoietic stem cell transplantation (allo-HSCT). Memory Tlymphocytes (CD45RA−/CD45RO+) play a crucial role in immune reconstitution post-HSCT. The infusion of memory T cells is proven to be safe and effective in improving outcomes due to the enhanced reconstitution of immunity and increased protection against viremia, without exacerbating graft-versus-host disease (GVHD) risks. Studies indicate their persistence and efficacy in combating viral pathogens, suggesting a viable therapeutic avenue for patients. Conversely, using virus-specific T cells for viremia control presents challenges, such as regulatory hurdles, cost, and production time compared to CD45RA-memory T lymphocytes. Additionally, the modulation of regulatory T cells (Tregs) for therapeutic use has become an important area of investigation in GVHD, playing a pivotal role in immune tolerance modulation, potentially mitigating GVHD and reducing pharmacological immunosuppression requirements. Finally, donor T cell-mediated graft-versus-leukemia immune responses hold promise in curbing relapse rates post-HSCT, providing a multifaceted approach to therapeutic intervention in high-risk disease scenarios. This comprehensive review underscores the multifaceted roles of T lymphocytes in HSCT outcomes and identifies avenues for further research and clinical application
Ključne besede: hematopoietic stem cell transplantation, T lymphocyte, memory T cells, virus-specific T cells, graft-versus-host disease, graft-versus-leukemia
Objavljeno v DiRROS: 26.02.2026; Ogledov: 637; Prenosov: 307
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7. Advances in the management of craniopharyngioma in children and adultsMojca Jensterle Sever, Sončka Jazbinšek, Roman Bošnjak, Mara Popović, Lorna Zadravec-Zaletel, Tina Vipotnik-Vesnaver, Barbara Faganel Kotnik, Primož Kotnik, 2019, pregledni znanstveni članek Povzetek: Childhood and adult-onset craniopharyngioma is a rare embryogenic tumor of the sellar, suprasellar, and parasellar region. Survival rates are high; however, tumor location and treatment sequalae including endocrine deficits, visual impairment, metabolic complications, cognitive and psychosocial deficits can significantly impair patient%s quality of life. There is considerable controversy regarding the optimal management of craniopharyngiomas. Subtotal resection of the tumor followed by targeted irradiation to avoid further hypothalamic damage is currently indicated. Novel insights in the tumor%s molecular pathology present the possibility for targeted therapy possibly decreasing the rate and severity of treatment-associated morbidity. Conclusions. Craniopharyngioma should be seen as a chronic disease. To achieve optimal outcomes a multidisciplinary team of specialized neurosurgeons, neuro-radiologists, neuro-oncologists, pathologists and endocrinologists should be involved in the diagnosis, planning of the surgery, irradiation and long-term follow-up.
Ključne besede: craniopharyngioma, hypopituitarism, metabolic syndrome
Objavljeno v DiRROS: 09.07.2024; Ogledov: 1463; Prenosov: 809
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8. Diagnostic accuracy of haemophilia early arthropathy detection with ultrasound (HEAD-US) : a comparative magnetic resonance imaging (MRI) studyDomen Plut, Barbara Faganel Kotnik, Irena Preložnik Zupan, Damjana Ključevšek, Gaj Vidmar, Žiga Snoj, Carlo Martinoli, Vladka Salapura, 2019, izvirni znanstveni članek Ključne besede: haemophilia, haemophilic arthropathy, magnetic resonance imaging
Objavljeno v DiRROS: 09.07.2024; Ogledov: 1345; Prenosov: 515
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9. Association between SLC19A1 gene polymorphism and high dose methotrexate toxicity in childhood acute lymphoblastic leukaemia and non Hodgkin malignant lymphoma : introducing a haplotype based approachBarbara Faganel Kotnik, Janez Jazbec, Petra Bohanec Grabar, Christina Rodriguez-Antona, Vita Dolžan, 2017, izvirni znanstveni članek Ključne besede: acute lymphoblastic leukaemia, genetic polymorphism, haplotype, methotrexate
Objavljeno v DiRROS: 31.05.2024; Ogledov: 1287; Prenosov: 933
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10. The influence of folate pathway polymorphisms on high-dose methotrexaterelated toxicity and survival in children with non-Hodgkin malignant lymphomaNina Erčulj, Barbara Faganel Kotnik, Maruša Debeljak, Janez Jazbec, Vita Dolžan, 2014, izvirni znanstveni članek Povzetek: 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 patients were genotyped for selected folate pathway polymorphisms. Results. Carriers of at least one MTHFR 677T allele had significantly higher MTX area under the time-concentration curve levels at third MTX cycle (P = 0.003). These patients were also at higher odds of leucopoenia (P = 0.006) or thrombocytopenia (P = 0.041) and had higher number of different HD-MTX-related toxicity (P = 0.035) compared to patients with wild-type genotype. Conclusions. Our results suggest an important role of MTHFR 677C>T polymorphism in the development of HD-MTXrelated toxicity in children with NHL.
Ključne besede: childhood, non-Hodgkin lymphoma, polymorphism
Objavljeno v DiRROS: 16.04.2024; Ogledov: 1442; Prenosov: 939
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