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1.
2.
Overview of European practices for management of tyrosinemia type 1 : towards European guidelines
Allysa M. Kuypers, Anibh M. Das, Arianna Maiorana, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen, 2025, original scientific article

Abstract: The introduction of nitisinone (NTBC) and newborn screening for Tyrosinemia type 1 (TT1) enabled preemptive treatment ofpatients, thereby significantly improving outcomes by preventing liver, kidney, and neurological issues. Treatment goals haveshifted from emergency treatment to long-term care. To evaluate the risk of developing complications with aging, due to TT1itself or its treatment, long-term follow-up is essential. In 2014, an overview of TT1 management practices in Europe was pub-lished. Within the Metabolic European Reference Network's subnetwork on amino-and-organic acidurias (MetabERN-AOA),we considered it important to give an update on current TT1 management practices in Europe. An online survey study was per-formed among members of the MetabERN-AOA subnetwork, and participants of a workshop on TT1 at the European MetabolicGroup Meeting of Nutricia. Findings were compared to existing data from the aforementioned publication from 2014 and pre-viously published recommendations. Thirty-two centers (16 European countries) completed the survey. Both consistencies andinconsistencies in TT1 management were seen. Inconsistencies were observed in the frequency and methods of follow-up, dosingof NTBC, and target ranges of biochemical markers. Compared to 2014, key differences included an increased number of patientsdetected by newborn screening, lower NTBC dosing, and a shift from interest in mainly hepatic to hepatic and neurocognitiveoutcomes. These results align with trends seen in TT1 recommendations over the years. In addition to numerous consistencies,many aspects in TT1 management still differ widely across Europe, suggesting the need for uniform guidance in clinical man-agement beyond existing recommendations.
Keywords: tyrosinemia type 1, NTBC, nitisinone, management, guidelines
Published in DiRROS: 22.12.2025; Views: 5; Downloads: 4
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3.
Midseptal and anteroseptal accessory pathway ablation in children
László Környei, Matevž Jan, Mohammad Ebrahim, Vjekoslav Radeljić, Mirta Rode, 2024, original scientific article

Abstract: Objectives: The goal of this study is to document outcomes of ablation for high-risk accessory pathways in paediatrics using 3D mapping systems with minimal to zero fluoroscopy. Methods: It is a cross-sectional, multicentre study, conducted between 2013 and 2023, and involving four different centres in Hungary, Croatia, Kuwait, and Slovenia. Results: A total of 128 procedures were performed on 111 patients. The cohort included 57.8% anteroseptal (AS) pathways and 42.2% midseptal (MS) pathways. The mean follow-up time was 2.0 ± 2.1 years. Cryoablation was used in 72.7% of the cases, and radiofrequency ablation was used in 27.3%. The EnSite Precision™ Cardiac Mapping System was the predominant system used. The overall acute success rate was 89.1%, with recurrence rates at 17.2% with similar results regardless of the type of energy used. The success rate was not significantly different between AS and MS substrates. The age and weight of the patient had no bearing on the outcomes (median age and weight were 13 years and 52 kg, respectively). The complications rate was at 4.69% and included transient AV block (three patients), hematoma (one patient), right bundle branch block (one patient), and possible permanent complete AV block (one patient). Fluoroscopy was utilized in 18 cases, with a fluoroscopy time mean of 3 min and 45 s. Conclusions: MS and AS AP in paediatric patients can be treated effectively with either RF or cryoablation and with a low dose of radiation using 3D mapping systems, with excellent acute success rates and low complication rates.
Keywords: accessory pathway, electrophysiology, radiation dose, cryoablation, heart block
Published in DiRROS: 22.12.2025; Views: 4; Downloads: 4
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4.
Impact of incretin-based therapy on skeletal muscle health
Andrijana Koceva, Andrej Janež, Mojca Jensterle Sever, 2025, review article

Abstract: Skeletal muscle is the largest insulin-sensitive tissue in the human body, playing a crucial role in glucose homeostasis, body mobility and overall metabolic health. In obesity and type 2 diabetes (T2D), skeletal muscle undergoes structural, functional, and metabolic alterations, including reduced muscle mass, impaired contractile function, increased myosteatosis, mitochondrial dysfunction, and chronic low-grade inflammation. Incretin-based therapies such as glucagon-like peptide-1 receptor agonists (GLP-1 RAs) or dual GLP-1/glucose-dependent insulinotropic polypeptide (GIP) RAs are highly effective treatments for T2D and obesity, producing substantial weight loss. While clinical trials suggest proportional loss of fat and lean mass when using incretin-based therapies, emerging preclinical and translational data indicate potential muscle-specific beneficial effects such as attenuation of atrophy, improved myogenesis, enhanced mitochondrial function and reduced myosteatosis. This review comprehensively summarizes the current preclinical and clinical evidence on the impact of incretin-based therapies on skeletal muscle mass, composition, metabolism, and performance, focusing on mechanistic insights from animal models and translational findings from human studies.
Keywords: obesity, incretin-based treatment, liraglutide
Published in DiRROS: 22.12.2025; Views: 4; Downloads: 4
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5.
Intermittent ventricular pre-excitation : clinical features and electrophysiological properties
Antonio Gianluca Robles, Zefferino Palamà, Francesco Santoro, Martin Rauber, Bor Antolič, Matevž Jan, Andrej Pernat, 2025, original scientific article

Abstract: Background: Intermittent ventricular pre‐excitation has long been considered a low‐risk marker for sudden death. Accessory pathways (APs) with high‐risk intermittent antegrade conductive properties may exist, but this still represents a gray area in current guidelines. We evaluated differences in risk characteristics between symptomatic and asymptomatic patients with intermittent pre‐excitation (IPX) and those with persistent pre‐excitation (PPX) in a multicenter international registry. Methods: 392 consecutive patients [IPX: 79 (20.15%); PPX: 313 (79.85%)] underwent electrophysiological (EP) study. Data on arrhythmia inducibility (AVRT/AF), AP antegrade conduction properties (ERP/SPERRI), site, and number were collected. Results: No significant differences were found in demographic characteristics and EP features between PPX and IPX patients, including antegrade conductive properties, prevalence of multiple APs, and AP locations, except for AVRT inducibility which was more frequent in IPX group. Similarly, no differences were detected between symptomatic and asymptomatic IPX patients. Conclusions: Except for AVRT inducibility, our study shows no significant differences in demographic and other electrophysiological features between PPX and IPX patients. Likewise, no differences in demographic and EP features were detected between symptomatic and asymptomatic IPX patients. Therefore, intermittent pre‐excitation is an unreliable noninvasive marker of arrhythmic risk and it warrants an invasive risk assessment via EP study.
Keywords: electrophysiological study, intermittent ventricular pre‐excitation, risk stratification, sudden cardiac death, Wolff - Parkinson - White syndrome
Published in DiRROS: 22.12.2025; Views: 4; Downloads: 4
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Načrt za ravnanje z raziskovalnimi podatki
Marta Sendra, Martina Štampar, Bojana Žegura, 2025, other monographs and other completed works

Abstract: Načrt za ravnanje z raziskovalnimi podatki za projekt "Environmental Nanoplastics Liver Impact and Variability in Endogenous Networks" (ENLIVEN).
Keywords: ELIVEN, Danio rerio, inducirane pluripotentne matične celice, človeški jetrni organoid, mikroplastika, nanoplastika, projekti
Published in DiRROS: 22.12.2025; Views: 15; Downloads: 4
.pdf File (433,02 KB)

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Pediatric gonadal torsion in radiology : a comprehensive literature and pictorial review using surgically proven cases
Inácio Freitas, Carolina Soares-Aquino, Pedro Sá, Ana Catarina Silva, Damjana Ključevšek, Sílvia Costa Dias, 2025, review article

Abstract: Pediatric gonadal torsion is a critical surgical emergency requiring immediate diagnosis and intervention to preserve reproductive capabilities. This review addresses the diagnostic challenges, imaging patterns, and management strategies for both ovarian and testicular torsion, including a brief discussion on the emerging role of Contrast-Enhanced Ultrasound (CEUS), therefore filling a significant gap in the literature. We emphasize the need for a high index of suspicion due to often nonspecific clinical presentations, particularly in ovarian torsion. An accurate and swift diagnosis allows conservative surgical intervention to be offered, which is crucial to maximize gonadal salvage and minimize recurrence. While we highlight CEUS's potential benefits in enhancing diagnostic clarity without ionizing radiation, ultrasound and other modalities such as MRI and CT, have a paramount role in this setting. Future research comparing CEUS with MRI is essential to validate its diagnostic accuracy and effectiveness, potentially revolutionizing acute care diagnostics. Incorporating CEUS into diagnostic workflows, along with a deep understanding of the condition's epidemiology, pathophysiology, and clinical presentation, may probably significantly improve patient outcomes. We detail the characteristic imaging features, diagnostic pitfalls, and differential diagnoses essential for radiologists, with particular relevance for residents and those with limited pediatric radiology exposure. This review aims to bridge existing knowledge gaps and serve as a robust educational tool, facilitating better clinical decision-making and outcomes in pediatric gonadal torsion cases.
Keywords: contrastenhanced ultrasonography, CEUS, testicular torsion, ovarian torsion, ultrasonography, pediatric surgery
Published in DiRROS: 22.12.2025; Views: 8; Downloads: 4
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10.
Reading assessment and eye movement analysis in bilateral central scotoma due to age-related macular degeneration
Polona Zaletel, Grega Jakus, Jaka Sodnik, Nadica Miljković, Ilija Tanasković, Smilja Stokanović, Andrej Meglič, Nataša Vidović Valentinčič, Polona Jaki Mekjavić, 2025, original scientific article

Abstract: This study investigates reading performances and eye movements in individuals with eccentric fixation due to age-related macular degeneration (AMD). Overall, 17 individuals with bilateral AMD (7 males; mean age 77.47 ± 5.96 years) and 17 controls (10 males; mean age 72.18 ± 5.98 years) were assessed for reading visual acuity (VA), reading speed (Minnesota low vision reading chart in Slovene, MNREAD-SI), and near contrast sensitivity (Pelli-Robson). Microperimetry (NIDEK MP-3) was used to evaluate preferential retinal locus (PRL) location and fixation stability. Eye movements were recorded with Tobii Proglasses 2 and analyzed for reading duration, saccade amplitude, peak velocity, number of saccades, saccade duration, and fixation duration. Individuals with AMD exhibited significantly reduced reading indices (worse reading VA (p < 0.001), slower reading (p < 0.001), and lower near contrast sensitivity (p < 0.001)). Eye movement analysis revealed prolonged reading duration, longer fixation duration, and an increased number of saccades in individuals with AMD per paragraph. The number of saccades per paragraph was significantly correlated with all measured reading indices. These findings provide insights into reading adaptations in AMD. Simultaneously, the proposed approach in analyzing eye movements puts forward eye trackers as a prospective diagnostic tool in ophthalmology
Keywords: reading visual acuity, reading speed, near contrast sensitivity, microperimetry, preferential retinal locus, fixation stability, eye tracking, saccades, fixation duration
Published in DiRROS: 22.12.2025; Views: 6; Downloads: 5
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