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183. Comparison of vaginal prostaglandin E2 delivery system versus expectant management in term premature rupture of membranes : a andomized controlled trialBlaž Pavič, Polona Pečlin, 2025, original scientific article Abstract: Background: Premature rupture of the membranes (PROM) occurring after the 37th week of gestation, prior to the onset of regular contractions, affects approximately 8% of pregnancies and typically leads to the spontaneous onset of labor. A prolonged interval between PROM and delivery increases the risk of maternal infection and early neonatal sepsis. This prospective, randomized study aimed to assess the efficacy, safety, and maternal satisfaction associated with the use of a vaginal prostaglandin E2 (PGE2) delivery system compared to expectant management approach following PROM. Methods: Term pregnant women with a singleton cephalic presentation, who experienced PROM within 4–12 hours and had an unripe cervix, were randomized into 2 groups. The intervention group received labor induction using a slow-release 10 mg dinoprostone (PGE2) vaginal delivery system, whereas the control group underwent expectant management. If active labor had not commenced within 24 hours of enrollment, labor was induced with oxytocin in both groups. Results: In this prospective randomized study, 74 pregnant women with PROM after the 37th week of gestation, prior to before the onset of active labor, were enrolled. Active labor began within 24 hours after enrollment in 54% of the control group and 77% of the intervention group (p = 0.036). The intervention group had a 3.42-hour shorter interval from randomization to delivery; however, this difference was not statistically significant (p = 0.067). When analyzing time to spontaneous vaginal delivery, administration of PGE2 in the intervention group was associated with a 4.3-hour reduction in delivery time (p = 0.029). There was no statistically significant difference regarding mode of delivery between the groups, with 6% of cesarean section in the intervention group vs. 15% in the control group (p = 0.343). No significant differences were observed between the groups in oxytocin use, labor complication rates, neonatal outcomes, or participant satisfaction. Notably, in a significant proportion of participants (37%) in the intervention group, the vaginal PGE2 delivery system was unintentionally expelled prior to the onset of active labor. Conclusion:The slow-release PGE2 vaginal system reduced the time from randomization to the onset of active labor and to vaginal delivery in pregnant women after PROM, without impacting the mode of delivery maternal and neonatal complications rates, or satisfaction rate compared to expectant management approach. Early induction of labor following PROM with a PGE2 vaginal system represents an effective and safe alternative to expectant labor management. Keywords: premature rupture of membranes, PROM, induction of labor, prostaglandin E2 vaginal system, dinoprostone Published in DiRROS: 04.12.2025; Views: 134; Downloads: 53
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184. Predictors of loneliness in Parkinson's disease and craniocervical dystoniaSuzette Shahmoon, Dejan Georgiev, Paul Jarman, Kailash P. Bhatia, Patricia Limousin, Marjan Jahanshahi, 2025, original scientific article Abstract: Background Loneliness is a state in which an individual feels socially isolated due to deficiencies in the quantity or quality of social relationships and interaction. To date very little is known about loneliness in Parkinson's disease (PD) and focal/segmental craniocervical dystonia (FSCD). Objectives To explore whether level of loneliness is disease-specific by comparing PD, FCSD and healthy controls (HCs), and to define predictors of loneliness in both PD and FSCD. Methods Eighty-two people with PD, 63 people with FSCD and 50 HC were surveyed. The UCLA Loneliness Scale was used to assess loneliness. Various non-motor symptoms, psychosocial variables and measures of subjective well-being were assessed and used as potential predictors of loneliness. Results There was no significant difference in reported levels of loneliness between people with PD and matched HCs, and between people with PD and people with FSCD, but people with FSCD reported higher levels of loneliness than HCs (p = 0.018). Perceived stigma predicted loneliness in both disease groups (p < 0.001). Additionally, non-motor symptoms (p = 0.006), lack of optimism (p = 0.015) and practical social support (p = 0.006) predicted loneliness in people with PD. Patients with PD and FSCD with higher perceived stigma levels felt lonelier (p < 0.001), as did female patients with PD (p = 0.004), younger patients with FSCD (p = 0.007) and older patients with PD (p = 0.023). Conclusions We identified important predictors of loneliness in PD and FSCD. The identified age- and gender-specific differences in loneliness in people with PD and FSCD contribute to our better understanding of this complex and not yet fully understood concept. Keywords: loneliness, Parkinson's disease, focal/segmental craniocervical dystonia, optimism and stigma Published in DiRROS: 04.12.2025; Views: 112; Downloads: 41
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186. Proportion of confirmed Lyme neuroborreliosis cases among adult patients with suspected early European Lyme neuroborreliosisKatarina Ogrinc, Petra Bogovič, Tereza Rojko, Vera Maraspin-Čarman, Eva Ružić-Sabljić, Andrej Kastrin, Klemen Strle, Gary P. Wormser, Franc Strle, 2025, original scientific article Abstract: Purpose To determine the frequency of confirmed Lyme neuroborreliosis (LNB) cases in adult patients with three different clinical presentations consistent with early LNB. Methods Data were obtained through routine health care at the UMC Ljubljana, Slovenia from 2005 to 2022, using clinical pathways. The patients were classified into three groups: (i) radicular pain of new onset (N=332); or (ii) involvement of cranial nerve(s) but without radicular pain (N=997); or (iii) erythema migrans (EM) skin lesion(s) in conjunction with symptoms suggestive of nervous system involvement but without either cranial nerve palsy or radicular pain (N=240). The diagnosis of LNB considered the following variables: the presence of: (1) neurologic symptoms consistent with LNB (with no other obvious explanation); (2) cerebrospinal fluid (CSF) pleocytosis (>5×▫$10^$▫ leukocytes/L); and (3) demonstration of intrathecal synthesis of borrelial antibodies, and/or cultivation of borrelia from CSF, and/or the presence of EM. Patients fulfilling only the first two criteria were interpreted as having possible LNB, while those who satisfied all three criteria were regarded as having confirmed LNB. Results Of 1569 adult patients, 348 (22.2%) had confirmed LNB and 70 (4.5%) others had possible LNB. The proportion of confirmed LNB cases was the highest for patients with radicular pain (217/332, 65.4%), followed by the group with EM and neurologic symptoms (47/240, 19.6%), and those with cranial neuritis (84/997, 8.4%). Conclusion Only 22% of patients evaluated had confirmed LNB. The proportion of confirmed LNB cases correlated with clinical presentation and was highest among patients with recent onset of radicular pain. Keywords: Lyme borreliosis, Lyme neuroborreliosis, criteria, cerebrospinal fluid, Bannwarth syndrome, cranial neuritis, borrelial meningitis, intrathecal borrelial antibody synthesis, Borrelia culture Published in DiRROS: 04.12.2025; Views: 112; Downloads: 62
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187. Ours, yours, theirs, no one’s? The heritage of multicultural areasAnja Moric, Marjeta Pisk, 2025, other scientific articles Keywords: heritage, heritagisation, multicultural areas, marginalised spaces, performativity of heritage, heritage negotiations Published in DiRROS: 04.12.2025; Views: 96; Downloads: 44
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188. Lower frequency of multiple erythema migrans skin lesions in Lyme reinfections, EuropeFranc Strle, Vera Maraspin-Čarman, Stanka Lotrič-Furlan, Katarina Ogrinc, Tereza Rojko, Andrej Kastrin, Klemen Strle, Gary P. Wormser, Petra Bogovič, 2025, original scientific article Abstract: The erythema migrans (EM) skin lesion is the most common clinical manifestation of Lyme borreliosis. Information about EM in Lyme borreliosis reinfection is limited. Of the 12,384 cases with diagnosed EM at an outpatient clinic during 1990–2014 in Slovenia, 1,962 (15.8%) cases occurred in patients who were treated previously for Lyme borreliosis, including 1,849 (94.2%) who had previously had EM. The percentage of reinfected patients who sought care with disseminated Lyme borreliosis at the time of reinfection, as manifested by multiple EM skin lesions, was significantly lower than for EM patients with no history of Lyme borreliosis (5.5% [108/1,962] vs. 7.4% [769/10,427]; p = 0.002). None of the clinical manifestations of Lyme borreliosis in Europe will completely protect against EM developing in patients in the future. The reoccurrence of Lyme borreliosis manifested by multiple EM lesions is significantly less likely than for patients with no history of Lyme borreliosis. Keywords: Lyme borreliosis, reinfection, erythema migrans Published in DiRROS: 04.12.2025; Views: 124; Downloads: 49
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189. Value of optical genome mapping (OGM) for diagnostics of rare diseases : a family case reportAnja Kovanda, Olivera Miljanović, Luca Lovrečić, Aleš Maver, Alenka Hodžić, Borut Peterlin, 2024, other scientific articles Abstract: Optical genome mapping (OGM) is a novel method enabling the detection of structural genomic variants. The method is based on the laser image acquisition of single, labeled, high-molecular-weight DNA molecules and can detect structural genomic variants such as translocations, inversions, insertions, deletions, duplications, and complex structural rearrangements. We aim to present our experience with OGM at the Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Slovenia. Since its introduction in 2021, we have used OGM for the testing of facioscapulohumeral muscular dystrophy 1, characterization and resolution of variants identified by other technologies such as microarrays, exome and genome next-generation sequencing, karyotyping, as well as testing of rare disease patients in whom no genetic cause could be identified using these methods. We present an example family case of two previously undiagnosed male siblings with an overlapping clinical presentation of thrombocytopenia, obesity, and presacral teratoma. After karyotyping, microarray analysis and next-generation sequencing, by using OGM, a maternally inherited cryptic translocation t(X;18)(q27.1;q12.2) was identified in both brothers. Despite an extended segregation analysis, based on strictly applied ACMG criteria and ClinGen guidelines, the identified translocation remains a variant of unknown significance. Despite the remaining limitations of OGM, which will hopefully be resolved by improvements in databases of known benign SV variation and the establishment of official guidelines on the clinical interpretation of OGM variants, our work highlights the complexity of the diagnostic journey, including this novel method, in rare disease cases. Keywords: optical genome mapping, OGM, structural variants, SV, genomic variants, rare disease genetic testing Published in DiRROS: 04.12.2025; Views: 124; Downloads: 53
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190. Concentric needle electromyography findings in patients with ulnar neuropathy at the elbowSimon Podnar, 2024, original scientific article Abstract: In ulnar neuropathy at the elbow (UNE), the degree of neuropathic changes, the sensitivity of needle electromyography (EMG) in individual ulnar muscles, and the utility of individual EMG parameters are controversial. I compared qualitative needle EMG findings in two ulnar-innervated hands muscles and two ulnar-innervated forearm muscles in a group of previously reported UNE patients. Altogether, 170 UNE patients (175 arms) were studied. I found spontaneous denervation activity (SDA) most frequently in the first dorsal interosseus (FDI) (62%) and neuropathic changes in the abductor digiti minimi (ADM) muscle (88%). In the forearm muscles, SDA was more common (29% vs. 20%; p = 0.02), and neuropathic changes were similar in the flexor carpi ulnaris (FCU) and the flexor digitorum profundus (FDP) muscles. SDA and neuropathic changes were more common in the ulnar hand (88% and 77%) than in the ulnar forearm muscles (71% and 68%). Needle EMG is sensitive to diagnose UNE. For the detection of SDA FDI and neuropathic changes, ADM is the best muscle. Ulnar forearm muscles are less useful than ulnar hand muscles for UNE diagnosis. Keywords: electrodiagnostics, needle electromyography, neuropathic changes, peripheral neuropathy, spontaneous denervation activity, ulnar neuropathy Published in DiRROS: 04.12.2025; Views: 109; Downloads: 49
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