1. A broad spectrum of liver manifestations in common variable immunodeficiency syndrome : two case reports and a literature overviewEva Supovec, Jan Drnovšek, 2025, izvirni znanstveni članek Povzetek: Background and Clinical Significance: Common variable immunodeficiency (CVID) is a primary B-cell immunodeficiency disorder, characterized by severe hypogammaglobulinemia and disturbed antibody production. In addition to increased susceptibility to recurrent respiratory and gastrointestinal infections, CVID can lead to a wide array of complications associated with immune dysregulation, which can also affect the liver. Liver involvement occurs in about 10% of patients with CVID, and can result from a range of causes, including infections, autoimmune disorders, lymphoproliferative conditions, granulomatous inflammation, and infiltrative processes. The most common liver manifestations include nodular regenerative hyperplasia, granulomatous or autoimmune hepatitis, and lymphocytic infiltration. The prevalence, pathophysiology, extent, and prognosis of liver involvement in CVID have not been systematically studied. Case Presentation: The object of this article is to present two patients with CVID-related liver disease and to illuminate the most relevant causes of liver involvement in CVID, describe the clinical features of their liver disease, and summarize the diagnostic and therapeutic approaches for its management. Conclusions: Liver involvement is an expected complication in patients with CVID syndrome. The delayed recognition of this pathology significantly worsens the disease prognosis, making the early detection of this potential complication crucial.
Ključne besede: CVID, common variable immunodeficiency, liver involvement, nodular regenerative hyperplasia
Objavljeno v DiRROS: 18.12.2025; Ogledov: 5; Prenosov: 4
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2. Inflammation - a link between arterial atherosclerotic and venous thromboembolic diseasesPavel Poredoš, Peter Poredoš, 2025, pregledni znanstveni članek Povzetek: An increasing body of evidence suggests the likelihood of a link between arterial atherosclerotic disease (AAD) and venous thromboembolic disease (VTED). Inflammation is accepted as a basic pathogenetic mechanism of both diseases. The involvement of inflammation in the pathogenesis of AAD and VTED is supported by increased levels of circulating inflammatory markers, particularly interleukins, which are involved in the development and progression of atherosclerosis as well as in thrombus formation in arterial and venous beds. A consideration supporting a close link between these diseases is also based on the evidence of common risk factors which promote the development of both diseases through stimulation of systemic inflammation. Further, the relationship between arterial and VTED is supported by findings of the simultaneous appearance of clinical or preclinical AAD and VTED. The aim of this narrative review is to report evidence of the inflammatory basis of arterial and venous diseases, which is important for common therapeutic procedures. Besides classical drugs used in the prevention of arterial and venous diseases with their pleotropic anti-inflammatory activity, new anti-inflammatory drugs provide the possibility for treatment of both AAD and VTED and could represent a unified therapeutic approach to both diseases.
Ključne besede: arterial atherosclerotic disease, venous thromboembolism, deep venous thrombosis, inflammation, interleukins
Objavljeno v DiRROS: 18.12.2025; Ogledov: 6; Prenosov: 6
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3. Abdominal imaging in precocious puberty in girls : can imaging determine onset of puberty?Anne M. Smets, Carmelo Sofia, Costanza Bruno, Damjana Ključevšek, Maria-Luisa Lobo, Marcello Napolitano, 2025, izvirni znanstveni članek Povzetek: Precocious puberty in girls is defined by the appearance of secondary sex characteristics before the age of 8 years. Precocious puberty is either peripheral or central. In most cases, the cause of central precocious puberty is unknown. Rapidly progressive forms of central precocious puberty may benefit from puberty suppression to prevent compromised final height and psychosocial problems related to the physical changes. Idiopathic central precocious puberty in girls can be a challenging diagnosis. Clinical examination, evaluation of growth charts, bone age, and hormonal tests are part of the workup. The role of pelvic ultrasound to evaluate pubertal features of the internal genitalia in this context is controversial. In this paper, we have reviewed the literature to find the scientific bases for several proposed ultrasound parameters and cutoff values for the determination of onset of puberty in girls with suspected central precocious puberty. There are no reliable cutoffs for the measurements of uterus and ovaries for the diagnosis of central precocious puberty and there is overlap in the appearance of the organs in both prepubertal and pubertal girls. The interpretation of the findings on pelvic ultrasound must be done with caution and always in close communication with the referring clinicians.
Ključne besede: precocious, puberty, ultrasound, uterus, ovary
Objavljeno v DiRROS: 18.12.2025; Ogledov: 13; Prenosov: 8
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4. Chronic lung allograft dysfunction after lung transplantation : prevention, diagnosis and treatment in 44 European centresJens Gottlieb, Robin Vos, Peter Jaksch, Merel Hellemons, Are Martin Holm, Letizia Corinna Morlacchi, Matevž Harlander, 2025, izvirni znanstveni članek Povzetek: Background: There are limited data on optimal management of chronic lung allograft dysfunction (CLAD). We aimed to describe the variability of diagnostic and therapeutic practices in Europe. Methods: A structured questionnaire was sent to 71 centres in 24 countries. Questions were related to contemporary clinical practices for workup, monitoring and treatment of CLAD. The number of lung transplant procedures and patients in follow-up were collected. Results: 44 centres (62%) responded from 20 countries, representing 74% of European activity. The prevalence of CLAD was estimated at 9.1 cases per million population (25th and 75th percentiles of 4.4, 15.7). Preferred initial workup for probable CLAD consisted of chest computed tomography (CT) (inspiratory 91% and expiratory 74%), donor-specific antibody (DSA) measurement (86%), bronchoalveolar lavage (BAL) (85%) and transbronchial biopsy (81%). For monitoring of definite CLAD, inspiratory CT (67%), DSA (61%) and BAL (43%) were preferred. Body plethysmography was unavailable for 16% of cases. Prophylaxis was based on preventing infections (cytomegalovirus 99%, inhaled antibiotics 70% and antifungals 65%), tacrolimus-based immunosuppression (96%), azithromycin (72%) and universal proton pump inhibitor treatment (84%). First-line treatment of CLAD was based on azithromycin (82%) and steroid augmentation (74%). Photopheresis was used in 26% of cases. Conclusion: Current European practice CLAD detection is based on spirometry, inspiratory CT and DSA, with limited access to plethysmography and expiratory CT. Prophylactic treatment is based on azithromycin, tacrolimus-based immunosuppression and treatment of risk factors. No single treatment strategy is universally used, highlighting the need for an effective treatment of CLAD. The preferred firstline strategy is azithromycin and steroid augmentation.
Ključne besede: lung transplantation, rejection, CLAD, chronic lung allograft dysfunction
Objavljeno v DiRROS: 18.12.2025; Ogledov: 9; Prenosov: 6
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7. FAIR foundations of a novel indicator vault for non-communicable diseases in the European Union : feasibility study for effective contextualisation of indicatorsIztok Štotl, Fabrizio Carinci, Stephen Fava, Astrid Lavens, Jana Lepiksone, Massimo Massi Benedetti, Tamara Poljičanin, Scott G. Cunningham, 2025, izvirni znanstveni članek Povzetek: Background: Comparing health indicators across the European Union (EU) is a challenging endeavour. A feasibility study was conducted to explore opportunities for improvement through the contextualisation of indicators for major non-communicable diseases (NCDs). We aimed to improve the usability and transparency of indicators in the domain of NCDs by describing the contextual information about the data from which they draw and the related data processes. In particular, we sought to illustrate how semantic linkage could be achieved to facilitate interoperability with other metadata models using FAIR data principles. Finally, we aimed to provide recommendations for the implementation of the proposed metadata model at the EU level. Methods: A number of expert group meetings were held between March 2023 and October 2024 to agree on the approach and related technologies to meet the standard requirements for the meaningful comparison of indicators across countries and regions of Europe in the domain of NCDs. Results: The Semantic Ontology-Labelled Indicator Contextualisation Integrative Taxonomy (SOLICIT) was selected as a suitable generic metadata model for contextualising indicators. In this work, we adapted the SOLICIT generic framework to the diabetes sub-domain and extended its applicability more generally across all NCDs. As a proof of concept, we present an example of how to adapt a diabetes indicator and its related contextualisation within SOLICIT. Conclusion: The accurate contextualisation of NCD indicators can substantially improve their use and comparability across national and regional boundaries. This study delivered a set of seven recommendations for implementation in three different areas: (a) contextualisation of common data elements and indicators (use of contextual information; common schema for semantic linkage), (b) generic contextualisation framework (adoption of the framework; use of SOLICIT), and (c) implementation at EU level (pilot test of the model on federated networks; development of European portals; implementation of a user-friendly interface for SOLICIT). The proposed concepts provide a way of validating indicator values and their comparisons, as well as their provision, including all relevant details, encouraging secondary use and potential integration with additional indicator sets. Further studies are needed to test and refine the proposed model.
Ključne besede: health indicator framework, non-communicable diseases, indicator contextualisation, FAIR, SOLICIT, EHDS, health indicator, metadata
Objavljeno v DiRROS: 18.12.2025; Ogledov: 14; Prenosov: 12
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10. Functionality of potato virus Y coat protein in cell-to-cell movement dynamics is defined by its N-terminal regionAnže Vozelj, Tjaša Mahkovec Povalej, Katja Stare, Magda Tušek-Žnidarič, Katarina Bačnik, Valentina Levak, Ion Gutiérrez-Aguirre, Marjetka Podobnik, Kristina Gruden, Anna Coll Rius, Tjaša Lukan, 2025, izvirni znanstveni članek Povzetek: Potato virus Y (PVY) is one of the top 10 economically most important plant viruses and responsible for major yield losses. We previously suggested the involvement of the N-terminal region of PVY coat protein (CP) in PVY spread. By constructing different N-terminal deletion mutants of the PVY N605 strain, we here show that deletions of 40 or more amino acid residues from the N-terminal region of the CP resulted in the PVY multiplication limited to primary infected cells in Nicotiana clevelandii plants. Deletion of 26 residues profoundly impaired PVY cell-to-cell movement and prevented systemic PVY spread, while deletions of 19-23 residues allowed delayed systemic PVY spread. Introduced point mutations in the identified region prevent (S21G) or delay (G20P) PVY movement. In summary, this work shows the significance of the CP N-terminus for movement of the PVY.
Ključne besede: potato virus Y, potato, coat proteins, viral movement, point mutations
Objavljeno v DiRROS: 18.12.2025; Ogledov: 8; Prenosov: 11
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