Delayed sleep phase disorder and advanced sleep phase disorder cause disruption of the circadian clock and present with extreme morning/evening chronotype with unclear role of the genetic etiology, ...especially for delayed sleep phase disorder. To assess if genotyping can aid in clinical diagnosis, we examined the presence of genetic variants in circadian clock genes previously linked to both sleep disorders in Slovenian patient cohort. Based on Morning-evening questionnaire, we found 15 patients with extreme chronotypes, 13 evening and 2 morning, and 28 controls. Sanger sequencing was used to determine the presence of carefully selected candidate SNPs in regions of the
,
and
genes. In a patient with an extreme morning chronotype and a family history of circadian sleep disorder we identified two heterozygous missense variants in
gene, c.1243C>G (NM_001377275.1 (p.Pro415Ala)) and c.1250A>G (NM_001377275.1 (p.His417Arg)). The variants were significantly linked to Advanced sleep phase disorder and were also found in proband's father with extreme morningness. Additionally, a rare SNP was found in
gene in a patient with
Delayed sleep phase disorder. The novel variant in
(NM_022817.3):c.1901-218 G>T
. We identified a family with autosomal dominant inheritance of two
heterozygous variants that can be linked to Advanced sleep phase disorder. We revealed also a rare hereditary form of Delayed sleep phase disorder with a new
variant with autosomal dominant inheritance, shedding the light into the genetic causality.
In addition to COVID‐19 being a health threat, its longevity and restrictions act as significant stressors and risk for mental health. In the current study, we take a look at how psychological ...response, both its positive aspects, for example, mental well‐being and life satisfaction, and its negative aspects, for example, anxiety and COVID‐19 anxiety, have changed as the pandemic has continued (first three waves in Slovenia). Additionally, we are interested in whether the psychological response is associated with the perception of stress level in waves 2 and 3 as less, equally or more stressful when compared to the stress level in wave 1 and what shapes these perceptions. An online questionnaire battery (COVID‐19 stress level comparison, Warwick‐Edinburgh Mental Well‐being Scale; LAOM Anxiety Scale; Global Life Satisfaction scale; COVID‐19 anxiety), with ANOVA and qualitative analysis of the open‐ended question on reasons for perceiving wave 2 and wave 3 as more stressful when compared to wave 1, was used on a Slovene convenience adult sample (wave 1: N = 364, 83.5% female; wave 2: N = 987, 85.5% female; wave 3: N = 467, 78.5% female). The findings show (a) a significant increase in COVID‐19 anxiety from wave 1 to wave 3, with a peak in wave 2, and a significant decrease in mental well‐being from wave 1 to wave 3; (b) the level of anxiety, mental well‐being, and life satisfaction differs significantly between individuals who perceive wave 2 and 3 as more stressful compared to individuals who perceive wave 2 and wave 3 as equally or less stressful when compared to wave 1; (c) reasons for perceiving the succeeding waves of the pandemic as more stressful compared to wave 1 are diverse, with some being reported in both succeeding waves (e.g., negative emotional response to the pandemic, negative perceptions of measures). The findings highlight the important role of stress analysis in identifying the support mechanisms for dealing with the challenges of the COVID‐19 pandemic.
This study measures the efficiency of energy consumption in the residential sector in Slovenia. It extends the existing research on the estimation of electricity consumption efficiency by considering ...the consumption efficiency of multiple energy sources used in households. The detailed disaggregated data from two cross-sectional surveys conducted in the years 2010 and 2014, resulting in a sample of 6882 Slovenian households, is used in the estimation. The study includes energy services in a stochastic frontier framework through a sub-vector Shephard energy input distance function. Several household characteristics are considered in the estimation of energy consumption to control for household heterogeneity. The results reveal that Slovenian households have substantial potential for energy savings, which can be achieved through the replacement of inefficient energy-using capital stock and changed behavioural patterns. Specifically, we found the average inefficiency of energy consumption in Slovenian households to be 25.1% in 2010 and 23.3% in 2014, indicating a slight improvement in residential energy efficiency in the observed period, which is also in line with the EU energy-efficiency targets.
•The efficiency in the overall energy use in Slovenian households is estimated.•The stochastic frontier analysis is applied using the energy input distance function.•The detailed disaggregated household data is used.•Multiple residential energy sources are considered.•The average estimated level of energy efficiency is between 75 and 77%.
A mercury-resistant bacterial strain has been isolated from a rock of the Idrija mercury mine in Slovenia. The rock had 19 g carbon and 2952 mg mercury (Hg) per kg. Mass spectrometry and DNA ...sequencing showed that the bacterium belongs to the Pseudomonas genus. It is called Pseudomonas idrijaensis. This bacterial strain is sensitive to methylmercury (MeHg) like the reference P. aeruginosa strain PAO1, and is resistant to divalent mercury (Hg(II)) in contrast to PAO1. This difference could be attributed to the presence of the mer operon yet deprived of the merB gene encoding the organomercurial lyase, on the basis of whole genome sequencing. The P. idrijaensis mer operon displays the RTPCADE organization and is contained in the Tn5041 transposon. This transposon identified here occurs in other Gram-negative Hg-resistant strains isolated from mercury ores, aquatic systems and soils, including Pseudomonas strains from 15,000 to 40,000 years old Siberian permafrost. When P. idrijaensis was exposed to mercury chloride, two intracellular Hg species were identified by high energy-resolution XANES spectroscopy, a dithiolate Hg(SR)2 and a tetrathiolate Hg(SR)4 complex. P. idrijaensis had a much higher Hg(SR)2/Hg(SR)4 molar ratio than bacteria lacking the mer operon when exposed to 4 μg Hg2+/L - resulting in an intracellular accumulation of 4.3 μg Hg/g dw. A higher amount of the Hg(SR)2 complex provides a chemical signature for the expression of the dicysteinate Mer proteins in response to mercury toxicity.
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•Newly discovered bacterium Pseudomonas idrijaensis from a rock of the Idrija mine.•The rock sample was rich in quartz and mica and contained 2952 mg of mercury per kg.•Pseudomonas idrijaensis is resistant to 80 μM of mercury chloride (16 mg Hg/L).•P. idrijaensis is endowed with the mer operon, contained in the transposon Tn5041.•P. idrijaensis accumulates bis and tetrathiolate species: Hg(SR)2 and Hg(SR)4.
Summary
In 1996, Slovenia witnessed a profound transformation in its cardiac care landscape with the establishment of the Department of Cardiac Surgery at the University Medical Centre Maribor. This ...momentous milestone heralded the birth of the nation’s second heart surgery center revolutionizing cardiovascular care accessibility. Today, the Department of Cardiac Surgery stands as a regional hub, delivering specialized cardiac surgical services to Slovenia’s northeastern region and beyond. Its unwavering commitment to excellence, patient-centered care, and adherence to international guidelines reflects its dedication to providing top-tier cardiac care. As the department commemorates its 25th anniversary, this article offers a reflective overview of its establishment, development, growth and future trajectory for further development in an ever-changing era of cardiovascular medicine. The article also highlights the department’s active involvement in international collaborations, scientific research, medical education, and innovations in minimally invasive cardiac surgery.
•Stable isotope and elemental parameters differentiate between five geographical regions in Slovenia.•The prediction ability is 83.9%.•LDA was found to be the most appropriate method for geographical ...origin discrimination.•Good separation was also obtained between cultivars.
This study examined the applicability of stable isotope and multi-element data for determining the geographical origin of fresh apple juices. Samples included three apple cultivars (Idared, Golden Delicious and Topaz) harvested in 2011 and 2012 from five different geographical regions of Slovenia. Regional discrimination of the juice samples was most successful when using linear discriminant analysis (LDA) and taking into account the following parameters: δ2H and δ18O content of juice water; δ15N and δ13C content of the pulp, (D/H)I and (D/H)II in ethanol and the concentration of S, Cl, Fe, Cu, Zn and Sr. Overall prediction ability was 83.9%. The factors that best distinguished the different types of cultivar were the δ2H and δ18O content of fruit juice water; the δ13C and (D/H)I content of ethanol; and the concentration of S, Mg, K, Cu, and Ti. Prediction ability, taking into account all ten parameters, was 75.8%.
Background
Increasing evidence suggests that not only genetics, but also environmental factors like gut microbiota dysbiosis play an important role in the pathogenesis of celiac disease (CD).
Aim
The ...aim of our study was to investigate the effect of two probiotic strains
Bifidobacterium breve
BR03 and
B. breve
B632 on serum production of anti-inflammatory cytokine interleukin 10 (IL-10) and pro-inflammatory cytokine tumor necrosis factor alpha (TNF-α) in children with CD.
Methods
The study was a double-blinded, placebo-controlled trial that included 49 children with CD on gluten-free diet (GFD) randomized into two groups and 18 healthy children in the control group. The first group (24 children with CD) daily received
B. breve
BR03 and B632 (2 × 10
9
colony-forming units) and the second group (25 children with CD) received placebo for 3 months.
Results
TNF-α levels were significantly decreased in the first group after receiving
B. breve
for 3 months. On follow-up, 3 months after receiving probiotics, TNF-α levels increased again. Children with CD who were on GFD for less than 1 year showed similar baseline TNF-α levels as children who were on GFD for more than 1 year. IL-10 levels were in all groups of patients below detection level.
Conclusions
Probiotic intervention with
B. breve
strains has shown a positive effect on decreasing the production of pro-inflammatory cytokine TNF-α in children with CD on GFD.
The article puts an emphasis on cross-border cooperation between Slovenian municipalities and municipalities in neighboring countries of Croatia, Austria, Hungary and Italy. The aim is to analyze ...different paths and methods of cross-border cooperation Slovenian municipalities are using in order to further own development and somewhat escape financial crisis conditions autonomously. In Slovenia every third municipality is border municipality, which means that at least small part of their territory borders with the territory of municipality in one of the neighboring four countries. Since the central government does not rigidly regulate cross-border cooperation, but allows municipalities autonomy, each municipality can in its own way develop various forms and degrees of cooperation which are more or less intensively reflected in the proper functioning of these municipalities. In this sense we present our thesis that cross-border cooperation is becoming one of the important sources of investment and economic development of otherwise heavily crisis-affected local communities in Slovenia. Keywords: cross-border cooperation, municipalities, crisis, resources, Slovenia.
To evaluate the possibility of deprescribing proton pump inhibitors in adult inpatients hospitalized in a teaching hospital in Slovenia.
We conducted a prospective observational clinical study in 120 ...patients taking a proton pump inhibitor. Data were obtained from hospital medical records and patient interviews. First, treatment compliance with relevant guidelines was assessed, and then the possibility of deprescribing was considered.
Treatment with a proton pump inhibitor was in accordance with guidelines in only 39% of the 120 patients. In 24% of patients, the indication for proton pump inhibitor use was invalid, and 22% and 15% of patients were taking a proton pump inhibitor at a higher dose or for a longer period than recommended, respectively. Deprescribing could be undertaken in 61% of patients, as discontinuation in 38%, and dose reduction in 23%. A deprescribing possibility was noted more frequently in patients prescribed proton pump inhibitors for peptic ulcer disease,
infection, or without a valid indication (p < 0.001), as well as in patients taking a double or higher dose of a proton pump inhibitor (p < 0.001).
Deprescribing of proton pump inhibitors could be undertaken in nearly 2/3 of our cohort of adult hospitalized patients. Hospitalization may serve as an opportunity to deprescribe proton pump inhibitors.
•Determination of peat stratigraphy, peat thickness and basin morphology.•Comparison of geophysical and conventional approaches in peatland environment.•3D model was created from GPR data to ...visualize the morphology.•Peatland formed from four smaller lakes which were later joined in one lake.
Owing to their anoxic environment, peatlands play an important role in the preservation of records documenting past atmospheric depositions. To determine past records, data on peat stratigraphy and bog development are needed. Ground penetrating radar (GPR) was used to determine the peat thickness and morphology of the Šijec bog on the Pokljuka plateau in Slovenia, which will serve as a basis for further geochemical studies. Information on the stratigraphy below the peat/clay boundary was acquired by applying electrical resistivity tomography (ERT). The GPR results reveal four depressions within the peat bog, which are separated by elevated ridges. Within the depressions the peat reaches a depth of 6–9 m. The edges of the bog are flat, with peat thickness ranging from 2 to 4 m. The reach of the GPR was complemented with manual peat probing. A comparison of the depths obtained using GPR and the peat probe reveals that the results of both methods correspond well in most locations. The ERT indicated similar peat depths; peat responds with high electrical resistivity. In contrast, clayey sediments with low resistivity are found below the peat. The peat depressions are underlain with larger clayey depressions reaching more than 20 m in thickness and represent lake sediments. The complementary geophysical methods proved to be an efficient approach with which we can delineate the peat morphology and the underlying stratigraphy. Both indicate bog formation from a lake with four deeper depressions, that are separated by glacial deposits. The results presented here show the potential for geophysical methods to infer formational processes in peatlands, showing the presence of a series of isolated basins that later coalesced into a single peat landform. This interpretation is consistent with previous conceptual models from studies in boreal regions.