1. Case report : agranulocytosis in a child following metamizole use – a diagnostic challengeAljaž Pirnat, Tomaž Prelog, Janez Jazbec, Alenka Trampuš-Bakija, 2025, drugi znanstveni članki Povzetek: Objective: This case report describes a young female who developed agranulocytosis with blast cells in peripheral blood following prolonged metamizole use after ankle surgery. Case Report: A 17-year-old female patient was admitted to the Department of Infectious Diseases due to high fever and sore throat. Initial diagnostics revealed agranulocytosis, followed by occurrence of blast cells and left shifted neutrophils in the peripheral blood, in subsequent days. Extensive further diagnostics were performed due to suspicion of leukaemia, which was excluded after flow cytometry and cytogenetic analysis of bone marrow aspirate. After all tests were completed, the patient disclosed that she had been using metamizole for four months following ankle surgery. Conclusion: In cases of agranulocytosis, involving a prolonged history of metamizole use accompanied by the presence of blast cells and granulocyte precursors in peripheral blood, we would recommend an initial diagnostic approach that includes a complete blood count with differential and flow cytometry of peripheral blood. Bone marrow aspiration may be postponed or deemed unnecessary if peripheral blood flow cytometry shows no aberrant populations and there are no other signs of leukaemia.
Ključne besede: metamizole, agranulocytosis, leukaemia, blast cell, flow cytometry
Objavljeno v DiRROS: 15.12.2025; Ogledov: 121; Prenosov: 64
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2. Gene therapy of rare diseases as a milestone in medicine : overview of the field and report on initial experiences in SloveniaUrh Grošelj, Marko Kavčič, Ana Drole Torkar, Jan Kafol, Duško Lainšček, Roman Jerala, Matjaž Sever, Samo Zver, Gregor Serša, Maja Čemažar, Primož Strojan, Aleš Grošelj, Mojca Žerjav-Tanšek, Špela Miroševič, Simona Ivančan, Tomaž Prelog, David Gosar, Jasna Oražem, Matej Mlinarič, Sara Bertok, Jernej Kovač, Jana Kodrič, Saba Battelino, Marko Pokorn, Alojz Ihan, Janez Jazbec, Tadej Battelino, Damjan Osredkar, 2025, pregledni znanstveni članek Povzetek: Gene therapy has transitioned from a long-awaited promise to a clinical reality, offering transformative treatments for rare congenital diseases and certain cancers, which have a significant impact on patients’ lives. Current approaches focus on gene replacement therapy, either in vivo or ex vivo, mostly utilizing viral vectors to deliver therapeutic genes into target cells. However, refining these techniques is essential to overcome challenges and complications associated with gene therapy to ensure long-term safety and efficacy. Slovenia has witnessed significant advancements in this field since 2018, marked by successful gene therapy trials and treatments for various rare diseases. Significant strides have been made in the field of gene therapy in Slovenia, treating patients with spinal muscular atrophy and rare metabolic disorders, including the pioneering work on CTNNB1 syndrome. Additionally, immune gene therapy, exemplified by IL-12 adjuvant therapy for cancer, has been a focus of research in Slovenia. Through patient-centred initiatives and international collaborations, researchers in Slovenia are advancing preclinical research and clinical trials, paving the way for accessible gene therapies. Establishing clinical infrastructure and genomic diagnostics for rare diseases is crucial for gene therapy implementation. Efforts in this regard in Slovenia, including the establishment of a Centre for Rare Diseases, Centre for the Technologies of Gene and Cell Therapy, and rapid genomic diagnostics, demonstrate a commitment to comprehensive patient care. Despite the promises of gene therapy, challenges remain, including cost, distribution, efficacy, and long-term safety. Collaborative efforts are essential to address these challenges and ensure equitable access to innovative therapies for patients with rare diseases.
Ključne besede: gene therapy, rare genetic diseases, Slovenia, CAR-T cells, cancer, immune gene therapy
Objavljeno v DiRROS: 04.12.2025; Ogledov: 160; Prenosov: 124
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6. Pharmacogenomic markers of glucorticoid responses in the initial phase of remission induction therapy in childhood acute lymphoblastic leukemiaVladimir Gasic, Branka Zukic, Biljana Stanković, Dragana Janić, Lidija Dokmanovic, Jelena Lazic, Nada Krstovski, Vita Dolžan, Janez Jazbec, Sonja Pavlovič, Nikola Kotur, 2018, izvirni znanstveni članek Ključne besede: pharmacogenomics, childhood ALL, glucocorticoids, glucocorticoid receptor gene, glutathione S-transferase genes, multidrug resistance 1 gene
Objavljeno v DiRROS: 11.06.2024; Ogledov: 947; Prenosov: 321
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7. 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: 900; Prenosov: 645
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8. Antioxidant defence-related genetic variants are not associated with higher risk of secondary thyroid cancer after treatment of malignancy in childhood or adolescenceAna Lina Vodušek, Katja Goričar, Barbara Gazić, Vita Dolžan, Janez Jazbec, 2016, izvirni znanstveni članek Povzetek: Background. Thyroid cancer is one of the most common secondary cancers after treatment of malignancy in childhood or adolescence. Thyroid gland is very sensitive to the carcinogenic effect of ionizing radiation, especially in children. Imbalance between pro- and anti-oxidant factors may play a role in thyroid carcinogenesis. Our study aimed to assess the relationship between genetic variability of antioxidant defence-related genes and the risk of secondary thyroid cancer after treatment of malignancy in childhood or adolescence. Patients and methods. In a retrospective study, we compared patients with childhood or adolescence primary malignancy between 1960 and 2006 that developed a secondary thyroid cancer (cases) with patients (controls), with the same primary malignancy but did not develop any secondary cancer. They were matched for age, gender, primary diagnosis and treatment (especially radiotherapy) of primary malignancy. They were all genotyped for SOD2 p.Ala16Val, CAT c.-262C>T, GPX1 p.Pro200Leu, GSTP1 p.Ile105Val, GSTP1 p.Ala114Val and GSTM1 and GSTT1 deletions. The influence of polymorphisms on occurrence of secondary cancer was examined by McNemar test and Cox proportional hazards model. Results. Between 1960 and 2006 a total of 2641 patients were diagnosed with primary malignancy before the age of 21 years in Slovenia. Among them 155 developed a secondary cancer, 28 of which were secondary thyroid cancers. No significant differences in the genotype frequency distribution were observed between cases and controls. Additionally we observed no significant influence of investigated polymorphisms on time to the development of secondary thyroid cancer. Conclusions. We observed no association of polymorphisms in antioxidant genes with the risk for secondary thyroid cancer after treatment of malignancy in childhood or adolescence. However, thyroid cancer is one of the most common secondary cancers in patients treated for malignancy in childhood or adolescence and the lifelong follow up of these patients is of utmost importance.
Ključne besede: secondary thyroid cancer, antioxidant genes, genetic polymorphism
Objavljeno v DiRROS: 09.05.2024; Ogledov: 1004; Prenosov: 657
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9. 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: 1048; Prenosov: 671
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