51. Palliative care for children and adults with inherited metabolic disease in Europe : an underutilised service for supportive treatment and careAnja Lee, Yngve Thomas Bliksrud, Michela Onali, Julia Neugebauer, Francois Eyskens, 2025, izvirni znanstveni članek Povzetek: Palliative care should be an integral part of follow-up for patients with life-limiting/life-threatening conditions, irrespective of age and diagnosis. Many patients with inherited metabolic disorders (IMD) have palliative care needs due to multi-systemic conditions without curative treatment options. To map the organisation and accessibility of palliative care across European IMD expert centres, and to explore the experiences of IMD physicians with palliative care, the European Reference Network for Hereditary Metabolic Disorders (MetabERN) invited physicians from all 103 member institutions to participate in a survey covering various aspects of palliative care. Ninety-two physicians from 63 institutions in 23 countries participated. A national plan or strategy for palliative care had been established in most countries (87%). Both children (91%) and adults (89%) had access to palliative care services. Most paediatric (86%) and many adult IMD physicians (67%) used advance care planning. A total of 284 referrals to palliative care were reported, mostly IMD patients with lysosomal and mitochondrial disorders, and neurological, respiratory, cognitive and gastrointestinal comorbidities. However, during the past 5 years, the majority of physicians (60%) had referred 20% or fewer of their deceased patients to palliative care. Although palliative care is available in most European IMD expert centres, only a small proportion of deceased IMD patients has been referred. The findings of this study indicate both a misconception and underutilisation of modern palliative care services. Addressing existing barriers is essential, and both IMD physicians and patients may need more information about available palliative care services and up-to-date indications for referral.
Ključne besede: palliative care, quality of life, patients, paediatric palliative care, inherited metabolic diseases, genetic disorders, MetabERN, The European Reference Network for Hereditary Metabolic Disorders
Objavljeno v DiRROS: 11.12.2025; Ogledov: 78; Prenosov: 40
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53. Hypotension-induced transverse spinal cord ischemiaPeter Kordiš, Fuad Colakovic, Eva Pipan, 2025, drugi znanstveni članki Povzetek: Background: Spinal cord infarction is rare, with spontaneous, non-traumatic cases being extremely uncommon. Severe atherosclerosis may predispose to spinal ischemia during episodes of systemic hypotension, particularly in mid-thoracic watershed zones. Case report: We present a case of a 56-year-old woman with schizophrenia, a history of heavy smoking, and chronic use of nonsteroidal anti-inflammatory drugs. She presented with ischemic lower limbs and hypotension, following a self-inflicted neck wound. Computed tomography angiography revealed extensive chronic atherosclerotic disease of the distal aorta and iliac arteries with collateral circulation but no acute occlusion. After surgical control of bleeding and stabilization, she was found to have flaccid paraplegia and sensory loss below the TH10 level. Magnetic resonance imaging confirmed acute spinal cord infarction with well-demarcated ischemia, that was treated conservatively. Despite prompt hemodynamic stabilization, her neurological deficits did not resolve. Conclusion: This case highlights spontaneous spinal cord infarction as a rare but serious complication of transient hypotension in patients with severe atherosclerosis. Prompt recognition is essential, though therapeutic options remain limited.
Ključne besede: spinal cord ischemia, hypotension, atherosclerosis, artery of Adamkiewicz, arteria radicularis magna
Objavljeno v DiRROS: 11.12.2025; Ogledov: 78; Prenosov: 32
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54. Adattamento e prevenzione di catastrofi sulla base degli ecosistemi : prospettive per le aree costiere del Nord AdriaticoA. Rosa, Rachele Dandolo, Eleonora Camastra, T. De Lorenzi, Saul Ciriaco, Suzana Škof, Liliana Vižintin, Alessandro Manzardo, Alberto Barausse, 2025, izvirni znanstveni članek Objavljeno v DiRROS: 11.12.2025; Ogledov: 77; Prenosov: 38
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55. Prepoznavanje neželenih učinkov zdravil na Interni kliniki Univerzitetnega kliničnega centra LjubljanaMatej Dobravc Verbič, Mojca Kerec Kos, Miran Brvar, 2025, pregledni znanstveni članek Povzetek: Farmakovigilanca zajema odkrivanje in obravnavo neželenih učinkov zdravil ter drugih težav, povezanih z zdravili. V Univerzitetnem kliničnem centru Ljubljana smo v okviru Centra za klinično toksikologijo in farmakologijo v preteklih letih izvedli več raziskav, osredotočenih na prepoznavanje in obravnavo neželenih učinkov zdravil na Interni kliniki. Posebno pozornost smo namenili ocenjevanju vzročne povezanosti med domnevnimi neželenimi učinki zdravil in povzročitelji. V ta namen smo razvili orodje, ki poleg objektivne ocene vzročne povezanosti po lestvici Naranjo vključuje tudi ločeni strokovni oceni zdravnika in raziskovalcev. Novo orodje omogoča razvrstitev večjega števila primerov med potrjene neželene učinke. Pri prepoznavi neželenih učinkov zdravil iz elektronske dokumentacije bolnikov pomembno vlogo igrajo ključne besede, ki zajemajo nespecifične in specifične ključne besede, imena zdravil in laboratorijske kazalce. Žal ima večina ključnih besed nizko napovedno vrednost, zato si v prihodnosti želimo razvoj programskih orodij, ki bodo omogočila kompleksnejše načine iskanja in prepoznave neželenih učinkov ter s tem zmanjšala količino zamudnega ročnega dela
Ključne besede: farmakovigilanca, neželeni učinki zdravi, ocena vzročne povezanost
Objavljeno v DiRROS: 11.12.2025; Ogledov: 76; Prenosov: 32
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56. Postural sway in multiple sclerosis patients : interaction of vision, surface, and fatigue effectsŽiga Kozinc, Eva Žura, Gregor Brecl Jakob, 2025, izvirni znanstveni članek Povzetek: Introduction: Postural control impairments are common in patients with multiple sclerosis (MS), resulting in postural instability and increased fall risk. Sensory inputs are crucial to maintain balance adequately. Additionally, fatigue is one of the common and most disabling symptoms of MS, possibly contributing to postural deficits. Previous studies have examined the effects of fatigue and altered sensory conditions on postural control in patients with MS. The present study aimed to extend this knowledge by jointly assessing these factors within the same experimental framework, providing additional insight into how fatigue modulates sensory contributions to balance. Methods: A total of 21 patients with MS (age = 41.1 ± 10.1 years; EDSS = 1.9 ± 1.0; disease duration = 6.8 ± 4.9 years) completed balance assessments on firm and compliant surfaces with both eyes open and eyes closed, before and after a 6-min walk test used to induce fatigue. Postural sway was quantified using sway velocity and root mean square (RMS). Results: There was a significant effect of surface on sway velocity (p < 0.001, η2 = 0.60), with a greater sway on the compliant surface compared to the firm surface. Fatigue significantly increased sway RMS (p = 0.023, η2 = 0.23) but did not affect sway velocity (p > 0.05). The absence of visual input (eyes closed) also significantly increased sway RMS (p = 0.001, η2 = 0.46). There was a significant interaction between surface and vision for sway RMS (p < 0.001, η2 = 0.54), with a larger effect of surface instability in the eyes-closed condition. Discussion: Patients with MS face increased challenges in maintaining postural control under conditions of fatigue, surface instability, and lack of visual input. Sway RMS may be more sensitive to these effects than sway velocity.
Ključne besede: balance control, sensory integration, proprioception, motor impairments, fall prevention, neurological disorders, physical fatigue
Objavljeno v DiRROS: 11.12.2025; Ogledov: 40; Prenosov: 24
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57. Pro-inflammatory markers as predictors of arterial thrombosis in aged patients with peripheral arterial disease post revascularizationAdriana A. Rodriguez Alvarez, Isabella F. Cieri, Mounika Naidu Boya, Shiv Patel, Aniket Agrawal, Sasha P. Suarez Ferreira, Christianah Alli, Shruti Sharma, Anahita Dua, 2025, izvirni znanstveni članek Povzetek: Introduction: Inflammation occurs in the initial stage of arterial atherosclerosis and serves as the first step in thrombus generation, with elevated inflammatory markers predicting myocardial infarction in coronary artery disease patients. Inflammation is known to alter the course of multiple diseases and can thus, also impact recovery post-treatment and surgical outcomes. Yet, there is a paucity of data regarding the relationship between inflammatory biomarkers and arterial thrombotic potential in peripheral artery disease (PAD) patients post-revascularization. Our pilot study attempts to fill this gap by evaluating if the expression of inflammatory biomarkers in PAD patients correlates with the incidence of thrombotic events post-revascularization. Methods: Plasma samples were prospectively collected from PAD patients who underwent revascularization from 2021 to 2023 at monthly time points for 6 months from the procedure. Patients were followed for a total of 6 months post-procedure and those who experienced thrombotic events were identified. Nine patients with thrombotic events and 16 with non-thrombotic events along with 5 healthy volunteers were analyzed. Plasma samples were analyzed for the following pro-inflammatory markers: IL-1β (Interleukin-1 beta), IL-6, and TNF-α (Tumor Necrosis Factor - alpha), GM-CSF (Granulocyte-Macrophage Colony-Stimulating Factor), IFNγ (Interferon-gamma), IL-8, MCP-1 (Monocyte Chemoattractant Protein-1). The Kruskal-Wallis test was performed to compare bio-inflammatory marker levels between groups. Results: A total of 303 patients were enrolled, of which 59 had thrombotic events. There were no differences between medications or disease burden between groups. Levels of circulating IL-6 and TNF- α were significantly higher in the thrombosis cohort compared to the non-thrombosis cohort (55 vs. 38, p < 0.02) and (159 vs. 110, p < 0.02) respectively. Although there was a trend toward significance for IL-1β between the thrombotic cohort and non-thrombotic cohort, it did not reach statistical significance (18 vs. 11.5, p = NS). There was no difference observed in aspirin's ability to dampen the inflammatory response between the two groups as all patients were on aspirin between the groups evaluated. Conclusion: Pro-inflammatory markers IL-6 and TNF-α are significantly increased in patients, 1 month prior to an arterial thrombotic event, as compared to patients without thrombotic events. These biomarkers could predict impending thrombosis in patients with PAD post-revascularization.
Ključne besede: inflammation, interleukin-6, peripheral artery disease (PAD), thrombosis, tumor necrosis factor-alpha
Objavljeno v DiRROS: 11.12.2025; Ogledov: 42; Prenosov: 24
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58. The incidence of pulmonary hypertension and the association with bronchopulmonary dysplasia in preterm infants of extremely low gestational age : single centre study at the Maternity Hospital of University Medical Centre Ljubljana, SloveniaTomaž Križnar, Štefan Grosek, Tina Perme, 2025, izvirni znanstveni članek Povzetek: Background: Pulmonary hypertension (PH) occurs in ~25% of infants with moderate-tosevere bronchopulmonary dysplasia (BPD) and is associated with substantial morbidity and mortality. The American Heart Association and American Thoracic Society recommend routine echocardiographic screening for PH in preterm infants with BPD at 36 weeks’ postmenstrual age (PMA), yet the true incidence remains unclear owing to non-uniform diagnostic criteria. Emerging evidence suggests a potential role for earlier screening. Objectives: (i) to determine the incidence of pulmonary hypertension (PH) and bronchopulmonary dysplasia (BPD) in preterm infants of extremely low gestational age; (ii) to determine the incidence of PH among infants diagnosed with BPD (BPD-PH); and (iii) to evaluate the utility of early screening at 7 days of life and late screening at discharge in relation to subsequent BPD. Methods: We conducted a prospective cohort study of all infants born at 22 + 0 to 28 + 6 weeks’ gestation and admitted to our tertiary NICU between 1 September 2022 and 31 December 2024. Clinical and echocardiographic assessments for PH and BPD were performed by neonatologists trained in neonatal echocardiography. Results: Seventy-eight infants born at 22 + 0–28 + 6 weeks’ gestation were enrolled 71 underwent early screening and 57 underwent late screening. Early echocardiography at day 7 and late screening at discharge identified no cases of PH. PH was diagnosed clinically and/or echocardiographically in 10 infants before day 7 and in one infant at 38 weeks’ PMA. BPD developed in 42 of 57 infants (73.7%). Conclusions: In this cohort of extremely lowgestational-age infants, echocardiographic screening performed by neonatologists detected no PH at day 7 and only one case at late screening (at 38 weeks’ PMA/before discharge). Most PH was identified prior to day 7 on clinical and/or echocardiographic grounds
Ključne besede: pulmonary hypertension (PH), bronchopulmonary dysplasia (BPD), BPD-associated pulmonary hypertension (BPD-PH), extremely low gestational age newborns (ELGANs), echocardiographic screening
Objavljeno v DiRROS: 11.12.2025; Ogledov: 59; Prenosov: 25
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59. Modified unipolar return pulsed field ablation in ventricular myocardiumMaria Terricabras Casas, Peter Lombergar, Terenz Escartin, Bor Kos, Philippa R. Krahn, Jennifer Barry, Graham Wright, Tomaž Jarm, Jernej Štublar, Matej Kranjc, Nicolas Coulombe, Lars M. Mattison, Daniel C. Sigg, Damijan Miklavčič, Atul Verma, 2025, izvirni znanstveni članek Povzetek: BACKGROUND: Various pulsed field ablation (PFA) parameters have been proposed to improve lesion depth. This study evaluated a modified unipolar return PFA system to create deep lesions in healthy and infarcted ventricular myocardia. METHODS: Numerical modeling was used to compare a modified unipolar return PFA system configuration with a conventional unipolar return (skin patch). We then performed ablation in 14 swine (5 with chronic myocardial infarction and 9 healthy). PFA lesions were created in the left ventricle using a focal catheter (4-mm tip) with a return electrode positioned in the inferior vena cava (biphasic, microsecond pulses of 1300 and 1500 V, 1–16 trains). Electroanatomical mapping guided ablation and lesion localization on magnetic resonance imaging were performed 48 hours post-ablation in the infarcted group and at 1 day, 7 days, and 6 weeks post-ablation in the healthy group. RESULTS: Numerical modeling demonstrated that the modified unipolar return PFA system produced deeper lesions with reduced variability compared with the skin patch. In healthy pigs (n=35 lesions), depths of 6.8±1.8 mm and widths of 11.5±4.7 mm were achieved with 8 pulse trains. Depths of 8.2±2.8 mm and widths of 14.0±4.7 mm were achieved with 16 trains. The maximum lesion depths were 8.8 and 11.6 mm for 8 and 16 trains, respectively. In the infarcted cohort (n=22 lesions), all lesions applied to scar tissue penetrated through fibrotic regions, with epicardial involvement observed in 57% of lesions. CONCLUSIONS: The modified unipolar return PFA system effectively creates large lesions and can achieve transmurality in healthy and infarcted animals. Compared with conventional unipolar, it may offer greater lesion depth, width, and consistency. GRAPHIC ABSTRACT: A graphic abstract is available for this article.
Ključne besede: atrial fibrillation, catheter ablation, heart ventricles, pulmonary veins, tachycardia ventricular
Objavljeno v DiRROS: 11.12.2025; Ogledov: 67; Prenosov: 39
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60. Sudden death of a four-day-old newborn due to mitochondrial trifunctional protein/long-chain 3-hydroxyacyl-coa dehydrogenase deficiencies and a systematic literature review of early deaths of neonates with fatty acid oxidation disordersAna Drole Torkar, Ana Klinc, Žiga Iztok Remec, Branislava Ranković, Klara Bartolj, Sara Bertok, Sara Colja, Vanja Čuk, Maruša Debeljak, Eva Kozjek, Barbka Repič-Lampret, Matej Mlinarič, Tinka Mohar Hajnšek, Daša Perko, Katarina Štajer, Tine Tesovnik, Domen Trampuž, Blanka Ulaga, Jernej Kovač, Tadej Battelino, Mojca Žerjav-Tanšek, Urh Grošelj, 2025, pregledni znanstveni članek Povzetek: Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies have been a part of the Slovenian newborn screening (NBS) program since 2018. We describe a case of early lethal presentation of MTPD/LCHADD in a term newborn. The girl was born after an uneventful pregnancy and delivery, and she was discharged home at the age of 3 days, appearing well. At the age of 4 days, she was found without signs of life. Resuscitation was not successful. The NBS test performed using tandem mass spectrometry (MS/MS) showed a positive screen for MTPD/LCHADD. Genetic analysis performed on a dried blood spot (DBS) sample identified two heterozygous variants in the HADHA gene: a nucleotide duplication introducing a premature termination codon (p.Arg205Ter) and a nucleotide substitution (p.Glu510Gln). Post-mortem studies showed massive macro-vesicular fat accumulation in the liver and, to a smaller extent, in the heart, consistent with MTPD/LCHADD. A neonatal acute cardiac presentation resulting in demise was suspected. We conducted a systematic literature review of early neonatal deaths within 14 days postpartum attributed to confirmed fatty acid oxidation disorders (FAODs), which are estimated to account for 5% of sudden infant deaths. We discuss the pitfalls of the NBS for MTPD/LCHADD.
Ključne besede: FAOD, LCHAD deficiency, LCHADD, MTP deficiency, MTPD, NBS, fatty acid oxidation disorder, newborn, newborn screening, sudden infant death
Objavljeno v DiRROS: 11.12.2025; Ogledov: 56; Prenosov: 35
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