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212. 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: 118; Downloads: 63
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213. 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: 99; Downloads: 46
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214. 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: 128; Downloads: 52
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215. 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: 125; Downloads: 53
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216. 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: 112; Downloads: 52
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217. Case report: effectiveness of Janus kinase inhibitors in the management of isolated noninfectious uveitis : a case seriesNina Krhlikar, Matija Tomšič, Polona Jaki Mekjavić, Pia Klobučar, Nataša Vidović Valentinčič, 2025, other scientific articles Abstract: Purpose: This study aimed to assess the efficacy of Janus kinase inhibitors (JAK-i) in the treatment of refractory isolated non-infectious uveitis. Case presentation: We examined a case series involving three patients with isolated non-infectious uveitis, who were managed between December 2019 and December 2023 at The Eye Hospital, University Medical Centre Ljubljana. The JAK-i therapy was initiated due to the patients’ unresponsiveness to disease-modifying antirheumatic drugs. Outcomes: In our case series, two patients presented with anterior and intermediate uveitis, one with posterior uveitis. None of the patients had any associated systemic disease. After the initiation of JAK-I therapy, all the patients achieved remission lasting for more than 1 year. No significant side effects were observed in any of the patients throughout a mean follow-up period of 31.6 months (range, 16–55 months). Conclusion: In this report, we present three cases of refractory isolated non-infectious uveitis successfully treated with JAK-i. This is the first report on the use of baricitinib and upadacitinib in this context. Our findings suggest that alternative use of JAK-i, apart from tofacitinib alone, may be an effective treatment option for such patients.
Keywords: JAK inhibitors, uveitis, biologics
Published in DiRROS: 04.12.2025; Views: 79; Downloads: 36
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218. Clostridioides difficile concentration-dependant alterations in gut microbiota of asymptomatic infantsAleksander Mahnič, Jana Lozar Krivec, Darja Paro Panjan, Andreja Valcl, Tanja Obermajer, Bojana Bogovič Matijašić, Evgen Benedik, Petra Bratina, Maja Rupnik, 2025, original scientific article Abstract: Background: Asymptomatic carriage of Clostridioides difficile is highly prevalent in early infancy, affecting approximately 40% of infants. This phenomenon offers a unique opportunity to study its impact on the gut microbiota without the confounding effects of disease. In this study, we analysed C. difficile-associated gut microbiome alterations in 76 asymptomatic infants, one year after receiving antibiotic treatment during early infancy. The presence and concentration of C. difficile were assessed in relation to gut microbiota structure and an extensive set of metadata. Results: Bacterial gut community structure was characterized using 16 S rRNA amplicon sequencing, while C. difficile concentration and the presence of the tcdB gene were quantified via digital PCR. C. difficile was detected in 36.8% of infants, with 10.5% testing positive for the tcdB gene. Significant alterations in gut microbiota were observed in relation to C. difficile concentration. Specifically, higher C. difficile loads were associated with reduced microbial diversity, greater deviations from average community structure, and co-occurrence with the genus Escherichia. Conversely, C. difficile colonization alone or the presence of the tcdB gene did not result in significant gut microbiota alterations. Additionally, no host-specific factors were significantly linked to C. difficile prevalence or concentration. Conclusions: Asymptomatic carriage of C. difficile in neonates is not associated with significant gut microbiota alterations unless pathogen concentration is considered. Our findings suggest that elevated C. difficile proliferation occurs in dysbiotic infant gut microbiota, characterized by reduced alpha diversity and an increase in Escherichia.
Keywords: gut microbiota, Clostridioides difficile, infant, asymptomatic, dysbiosis
Published in DiRROS: 04.12.2025; Views: 111; Downloads: 54
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219. International survey on Phenylketonuria newborn screeningDomen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič-Lampret, Tadej Battelino, Urh Grošelj, 2025, original scientific article Abstract: ewborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers. To evaluate the Phenylketonuria newborn screening practices internationally, we designed a survey with questions focusing on the laboratory aspect of the screening system. We analyzed 24 completed surveys from 23 countries. Most participants used the same sampling age range of 48–72 h; they used tandem mass spectrometry and commercial non-derivatized kits to measure phenylalanine (Phe), and had non-negative cut-off values (COV) set mostly at 120 µmol/L of Phe. Participants mostly used genetic analysis of blood and detailed amino acid analysis from blood plasma as their confirmatory methods and set the COV for the initiation of dietary therapy at 360 µmol/L of Phe. There were striking differences in practice as well. While most participants reported a 48–72 h range for age at sampling, that range was overall quite diverse Screening COV varied as well. Additional screening parameters, e.g., the phenylalanine/tyrosine ratio were used by some participants to determine the screening result. Some participants included testing for tetrahydrobiopterin deficiency, or galactosemia in their diagnostic process. Results together showed that there is room to select a best practice from the many practices applied. Such a best practice of PKU-NBS parameters and post-screening parameters could then serve as a generally applicable guideline.
Keywords: phenylketonuria, newborn, neonatal, screening, international, survey, laboratory, methods, cut-off
Published in DiRROS: 04.12.2025; Views: 131; Downloads: 61
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220. Prevalence of familial hypercholesterolemia in Pakistan : a pooled analysis of 1.5 million individuals and comparison with other countries of the regionAmjad Nawaz, Madeeha Khan, Quratul Ain, Jaka Šikonja, Hijab Batool, Muhammad Qasim Hayat, Mohammad Iqbal Khan, Urh Grošelj, Fouzia Sadiq, 2025, original scientific article Abstract: Background: Familial hypercholesterolemia (FH) is an inherited disorder that causes elevated LDL-C levels leading to premature cardiovascular disease but remains underdiagnosed. This study aims to determine the prevalence of FH in Pakistan using data from multiple laboratory networks and compare it with other counties of the region. Methods: The study analyzed lipid profile data from two large laboratory networks in Pakistan, applying Make Early Diagnosis to Prevent Early Death (MEDPED) LDL-C criteria for the general population to identify FH cases. A pooled prevalence estimate of prevalence of FH in Pakistan was calculated by combining the data of studies reporting prevalence in Pakistan. A systematic review was conducted to assess FH prevalence in South and Southeast Asian countries. Results: Analysis of 545,087 individuals (Median age 45 years, 58.2% males) identified 2,911 FH cases [0.55%, 95% confidence interval (CI): 0.53–0.57%), equivalent to a prevalence of 1:182. Pooled analysis with a previous Pakistani study, totaling 1,533,393 subjects, estimated the overall FH prevalence in Pakistan at 1:273 (95% CI: 0.21–0.64%). Prevalence decreased with age, being highest in the
Keywords: familial hypercholesterolemia, prevalence, cardiovascular disease, Pakistan, South Asia, Southeast Asia, screening
Published in DiRROS: 04.12.2025; Views: 111; Downloads: 47
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