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Objective: High myopia is a significant risk factor for irreversible vision loss and can occur in isolation or as a component of various syndromes. However, the genetic basis of early-onset high myopia remains poorly understood. We aimed to identify the causative genetic variants for high myopia in a cohort of Slovenian children., Methods: The study included children referred to a tertiary paediatric ophthalmology centre at the University Eye Clinic in Ljubljana between 2010 and 2022. The participants met the following inclusion criteria: age ≤ 15 years and high myopia ≤-5.0 D before the age of 10 years. Genetic analysis included exome sequencing and/or molecular karyotyping. Participants were categorized based on clinical presentation: high myopia with systemic involvement, high myopia with ocular involvement, and isolated high myopia., Results: Genetic analysis of 36 probands revealed a genetic cause of high myopia in 22 (61.1%) children. Among those with systemic involvement (50.0%), genetic causes were identified in 13 out of 18 children, with Stickler's and Pitt-Hopkins being the most common syndromes. Among cases of high myopia with ocular involvement (38.9%), a genetic cause was found in 8 out of 14 probands, including (likely) pathogenic variants in genes related to retinal dystrophies (CACNA1F, RPGR, RP2, NDP). The non-syndromic ARR3- associated high myopia was identified in the isolated high myopia group., Conclusions: A genetic cause of high myopia was identified in 61.1% of children tested, demonstrating the value of genetic testing in this population for diagnosis and proactive counseling., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Šenk et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

This study evaluated the effects of a neuromuscular training (NMT) warm-up program on injury incidence, neuromuscular function, and program adherence, maintenance and acceptance in adolescent basketball players. A total of 275 players from 20 Slovenian teams (15 ± 1.7 years of age), were randomized into an intervention group (IG, n=129) and a control group (CG, n=146). Over three months, the IG incorporated NMT into their warm-ups, while the CG followed their usual practice. Measurements of body anthropometry, muscle contractile properties, and balance were taken before and after the intervention. Also, the injury incidence, training adherence and maintenance were reported. Both groups showed improved balance, with no significant difference between them. However, IG demonstrated reduced delay times in specific muscles, indicating improved neuromuscular function. Injury prevalence proportion (%) during the whole study period was higher in the control group compared to intervention (IG: 10.9% vs. CG: 23.3%), and incidence rate. Moreover, the incidence rate ratio for sustaining an injury was 2.6 on average (ranging from 0.88 to 7.07 for tendon and muscle injuries, respectively), indicating significantly lower injury risk in IG than CG. These findings highlight the effectiveness of NMT warm-ups in reducing injury risk and enhancing neuromuscular function, emphasizing the value of structured injury prevention strategies in youth sports..

Microplastics, synthetic solid particles of different sizes (< 5 mm), pose a major challenge to marine ecosystems. Introducing microplastics into the marine environment leads to the formation of complex microbial communities, a topic of growing interest in environmental research. For this study, we selected an area in the northern Adriatic Sea, less affected by human activities, to understand how pristine environmental conditions influence microbial colonization of microplastics. Samples of coastal seawater and Mediterranean mussels (Mytilus galloprovincialis) were collected in a mussel farm near Debeli rtič of the Slovenian coast. Microplastics were isolated, visually and chemically analyzed and DNA was extracted for metagenomics. In the marine water column, 12.7 microplastics per m 3 water column and 0.58 microplastics per individual mussel were found. Sufficient DNA was available to analyze six particles, five originating from seawater, and one from a mussel. This was the first-ever sequenced microplastic particle from a mussel. Genera of Pseudomonas and Serratia were identified in all samples. In one of the samples, the most abundant was a marine genus Pseudoalteromonas, while in another sample Campylobacter was present with >30 % abundance. The microbiomes of the mussel- and seawater-isolated particles were similar, suggesting a common microbial colonization pattern, which may have implications for the transfer of microplastic-associated microbes, including potential pathogens, through the food web to the consumers. Microplastic pollution is a complex issue requiring further research, especially regarding microbial biofilms, pathogen colonization and the potential of pathogen transmission via microplastic particles. Our findings enhance the understanding of microplastic pollution in the Adriatic Sea and stress the necessity for comprehensive strategies to mitigate the impact on marine ecosystems., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Purpose: To assess the association between perinatal risk factors for retinopathy of prematurity (ROP) and central retinal structures of former preterm children seen on optical coherence tomography angiography (OCTA)., Methods: This prospective cohort study included 40 children with a history of preterm birth and 33 healthy full-term children. We documented their birth weight, gestational age, other significant risk factors for ROP development and presence of ROP. Imaging was performed using swept-source OCTA, and quantitative evaluation was performed. Analytic parameters included the area of foveal avascular zone (FAZ), foveal depth (FD), central subfoveal retinal thickness (CSFT) and capillary density index (CDI) of the deep and superficial capillary plexus., Results: Preterm children had significantly smaller FAZ, lower FD and higher CSFT compared to controls (all p < 0.001). Both groups exhibited no differences in total CDI at the superficial (p = 0.969) and deep capillary plexus (p = 0.370). The duration of mechanical ventilation correlated negatively with FAZ and FD but positively with CSFT. The duration of supplemental oxygen treatment correlated negatively with FD. The presence of intraventricular haemorrhage correlated negatively with FAZ and FD but positively with CSFT. Regression analysis found that the duration of mechanical ventilation and the presence of bronchopulmonary dysplasia were associated with lower FD (p = 0.002 and 0.01, respectively) and higher CSFT (p = 0.002 and 0.028, respectively)., Conclusion: Central retinal anomalies were identified in former preterm children using OCTA. Macular changes were associated with several risk factors for ROP development., (© 2021 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.)

Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced molecular-genetics approach. In as much as 20 out of 25 patients, genetic variants explaining their clinical phenotype were identified. The great majority of patients (15/25) had genetic variants in TYR gene associated with OCA type 1, followed by variants in TYRP1, SLC45A2 and HPS1 genes causative for OCA3, OCA4 and Hermansky-Pudlak syndrome type 1, respectively. We concluded that OCA phenotype could not predict genotype and vice versa. Nevertheless, the diagnostic yield after targeted next generation sequencing (NGS) was 80% and proved to be affective in our paediatric cohort of patients with various degree of OCA. Even in 16 patients with normal complexion the diagnostic yield was 62,5%. Interestingly, we have identified a patient of white European ancestry with OCA3, which is an extremely rare report, and one patient with OCA due to the Hermansky-Pudlak syndrome type 1.

Achromatopsia has been proposed to be a morphologically predominately stable retinopathy with rare reports of progression of structural changes in the macula. A five-grade system of optical coherence tomography (OCT) features has been used for the classification of structural macular changes. However, their association with age remains questionable. We characterized the Slovenian cohort of 12 patients with pathogenic variants in CNGA3 or CNGB3 who had been followed up with OCT for up to 9 years. Based on observed structural changes in association with age, the following four-stage classification of retinal morphological changes was proposed: (I) preserved inner segment ellipsoid band (Ise), (II) disrupted ISe, (III) ISe loss and (IV) ISe and RPE loss. Data from six previously published studies reporting OCT morphology in CNGA3 and CNGB3 patients were additionally collected, forming the largest CNGA3/CNGB3 cohort to date, comprising 126 patients aged 1-71 years. Multiple regression analysis showed a significant correlation of OCT stage with age ( p < 0.001) and no correlation with gene ( p > 0.05). The median ages of patients with stages I-IV were 12 years, 23 years, 27 years and 48 years, respectively, and no patient older than 50 years had continuous ISe. Our findings suggest that achromatopsia presents with slowly but steadily progressive structural changes of the macular outer retinal layers. However, whether morphological changes in time follow the proposed four-stage linear pattern needs to be confirmed in a long-term study.

Retinopathy of prematurity (nROP) among extremely low gestational age newborns (ELGAN) in Slovenia has increased in recent years. At the same time mortality has further decreased and less invasive approaches for treatment of respiratory distress syndrome have been established. With the aim to study the possible association between the incidence of ROP and the duration of noninvasive ventilation, this retrospective study comprised ELGANs born during the first period (2010/2011), when invasive respiratory support was the prevalent method and in the second period (2015/2016), when noninvasive respiratory support was adopted. The results showed that the duration of noninvasive ventilation is a potential risk factor for ROP. Controlling for known risk factors for ROP and then adjusting for gestational age, number of transfusions and fraction of inspired oxygen (FiO 2 ), the odds of ROP were 1.22 times greater (95% confidence interval, CI 1.01-1.48) with every additional week of noninvasive ventilation (p = 0.03)., (© 2021. Springer-Verlag GmbH Austria, part of Springer Nature.)

The burden of tuberculosis (TB) in Slovenia is low due to good ongoing preventive measures. However, analysis of data obtained from the Registry for Tuberculosis and National Reference Laboratory for Mycobacteria at University Clinic of Respiratory and Allergic Diseases Golnik from January 2000 to December 2017 revealed that the number of nontuberculous mycobacterial (NTM) isolates is increasing. A group of slowly growing NTM and a common cause of NTM disease among humans is the Mycobacterium avium complex, the taxonomy of which is rapidly changing. M. intracellulare and M. chimaera are part of the Mycobacterium avium complex, and together represent 19.6% of all isolated NTM species in Slovenia. Due to the high genotypic and phenotypic similarity between M. intracellulare and M. chimaera species, both species are difficult to differentiate. A method that can be used to successfully distinguish between M. intracellulare and M. chimaera is the molecular assay GenoType NTM-DR. Mutations in the rrl and rrs genes that are associated with macrolide and aminoglycoside resistance, respectively, can also be detected with this method. Overall, 222 clinical isolates were tested, and the nationwide study showed that 44.6% of the previously identified M. intracellulare species were actually M. chimaera. Further, this study showed that none of the tested M. intracellulare and M. chimaera isolates harboured mutations in the rrl and rrs genes. The genotyping result that no isolates were resistant to macrolides or aminoglycosides was also confirmed phenotypically with the broth microdilution method. Among isolates from the Slovenian Mycobacterial Isolates Collection all these tested strains (n = 222) were sensitive to macrolides and aminoglycosides., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Slovenia is one of the EU countries with the largest values and largest amounts of variability in rainfall erosivity, with maximum annual values exceeding 10,000 MJ mm ha -1 h -1 yr -1 . Five-minute rainfall data was analysed from 10 Slovenian rainfall stations with data-length availability longer than 25 years with a maximum data length of 69 years and a total data-station length equal to 443 years. Trends in the rainfall erosivity R-factor were detected for four different sub-samples using monthly, half-year, and annual rainfall erosivity values. The results indicate that rainfall erosivity trends for the selected Slovenian stations are mostly statistically insignificant, with the selected significance level of 0.05. However, a larger share of identified trends are positive than negative. The maximum annual rainfall erosivity values were obtained for one specific mountain station. Furthermore, a sensitivity analysis regarding the rainfall erosivity factor R calculation showed that the rainfall threshold parameter (12.7 mm) that is used to remove the small-magnitude rainfall events in order to reduce the computational burden can attribute up to 10% of the average annual R-values in cases where this threshold is not used. Other parameters have, on average, a smaller impact on the calculated rainfall erosivity. Furthermore, the application of local kinetic energy equations resulted in, on average, about 20% higher annual rainfall erosivity values compared to the equation that is proposed by the Revised Universal Soil Loss Equation (RUSLE) manual and was not developed specifically for this region., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: The aim of this study was to determine how end-of-life decisions (EOLD) on limitations of life-sustaining treatment (LST) are made in three different types of intensive care units (ICUs) in Slovenia., Methods: A national multicenter prospective study among 31 adult and three pediatric/neonatal ICUs (PICUs). The questionnaire form on EOLD was designed to assess the clinical practice. Data were collected between January 1, 2013, and March 31, 2013. For statistical analysis we used IBM® SPSS® Statistics 20 software package., Results: Overall, of 4226 patients were admitted to ICUs, the EOLD on limitation of LST were performed in 112 patients (23.9%) out of 468 patients, which had died and/or had been subject to EOLD on limitation of LST. In 86.2% of the cases, patients had impaired competence. Advance directives were available only in 1.9% (2 out of 106 patients) of the cases. In the majority of cases, the EOLD was taken by the physicians (96.2%). In 61.8% of the cases, patient representatives were involved in the discussion about limitation of LST. The do-not-resuscitate order and withholding of inotropes/vasopressors were the most common measures to limit LST. Most commonly withdrawn were inotropes/vasopressors and antibiotics. Palliative care was included in 72.3% of the cases (80 out of 112 patients), however, palliative care team was only included in 4% of the cases., Conclusions: No differences were found between the three different types of ICUs in EOLD on limitation of LST even though limitation of LST was provided regularly. The most commonly limited LST measures include mechanical ventilation, inotropes/vasopressors, hemodialysis, and antibiotics. Almost none of the patients had advance directives in place. Palliative care team was available in only few cases.

Background/aims: Vitamin D deficiency is a common underdiagnosed condition. The aim of this was to analyze the status of vitamin D and its determinants in healthy Slovenian pregnant women., Methods: A total of 132 volunteer pregnant women completed a questionnaire including baseline demographics, food frequency, physical activities; anthropometrical measurements, body mass index and levels of 25-(OH)D in serum were performed during the third trimester, and dietary intakes were assessed during the 27-28th week of gestation., Results: Vitamin D deficiency was present in 14% while insufficiency was present in 41% of women. The risk for inadequacy was higher in women older than 30 years (p = 0.01), in those with less frequent outdoor physical activity (p = 0.01) and in pregnancies during the low sun exposure season (p = 0.04). Insufficiency was not significantly more frequent in less educated women, unemployed and in those living in urban area. The median value of vitamin D from habitual dietary intake was 1.5 µg/day (range 0.1-13.4) and did not influence 25-hydroxyvitamin D level (p = 0.91)., Conclusions: The prevalence of vitamin D inadequacy was 55% and was dependent on age, season and outdoor physical activities. The results suggest a discrepancy between vitamin D intake through habitual diet and the reference needs., (© 2015 S. Karger AG, Basel.)

Background: Slovenia is one of the few countries where IS6110 RFLP is applied for genotyping M. tuberculosis at a nationwide level, which has been in effect since 2000. Based on S6110 RFLP clustering, typical risk factors and routes of M. tuberculosis transmission were identified, such as alcohol abuse, homelessness, and bars. However, IS6110 RFLP typing suffers from important limitations including a long wait for results, which reduces the potential benefit of molecular-guided tuberculosis (TB) control. PCR-based 24-locus MIRU-VNTR typing combined with spoligotyping has recently emerged as a potential alternative for faster, large-scale genotyping of M. tuberculosis., Methods: We compared these genotyping methods for analyzing 196 Slovenian Mycobacterium tuberculosis isolates representing 97.5% of all culture-positive cases included in the Slovenian TB Registry in 2008., Results: IS6110 RFLP and 24-locus MIRU-VNTR typing combined with spoligotyping identified 157 and 155 distinct profiles, 135 and 125 unique isolates, and 61 and 71 clustered isolates grouped into 22 and 29 clusters, respectively. The discriminatory indexes were very close, at 0.9963 and 0.9965, respectively. The majority of the molecular clusters defined by either of the two methods were identical, including in the few cases for which epidemiological links were available. The differences frequently consisted of single-band changes in IS6170-RFLP profiles subdividing a MIRU-VNTR/spoligotype-based cluster., Conclusions: Our one-year nationwide study showed that the results of 24-locus MIRU-VNTR typing combined with spoligotyping reached a high level of concordance with those obtained from IS6110 RFLP typing., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Slovenia is a small Central European country with a population of 1.99 million and an incidence of tuberculosis (TB) of 18.6 per 100,000 inhabitants in 2001. In a prospective nation-wide, 1-y DNA fingerprinting study, the genetic diversity of 99.7% of all Mycobacterium tuberculosis isolates obtained from Slovenian patients with culture-verified TB in 2001 were assessed using a standardized IS6110 restriction fragment length polymorphism (RFLP) method. Among 306 M. tuberculosis isolates, 228 different IS6110 RFLP patterns were found. The number of IS6110 copies varied from 2 to 16 (9.2 copies per isolate on average). Only 2 isolates (0.7%) with less than 5 IS6110 copies were identified. Clustered M. tuberculosis isolates were detected in 116 (37.9%) patients. The degree of recent transmission in the 1-y period was 25%. The clustering rate decreased with age from 46.4% (age group under 35 y) to 19.5% (age group above 65 y). A history of alcohol abuse and homelessness was found to be associated with clustering of TB cases. In conclusion, a high clustering frequency was identified among Slovenian TB patients. The study increased our understanding of important risk factors and routes of TB transmission in Slovenia.