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1.
Microb Ecol ; 87(1): 87, 2024 Jun 28.
Article in English | MEDLINE | ID: mdl-38940862

ABSTRACT

The primary purpose of the study, as part of the planned conservation work, was to uncover all aspects of autochthonous biofilm pertaining to the formation of numerous deterioration symptoms occurring on the limestone Rozanec Mithraeum monument in Slovenia. Using state-of-the-art sequencing technologies combining mycobiome data with observations made via numerous light and spectroscopic (FTIR and Raman) microscopy analyses pointed out to epilithic lichen Gyalecta jenensis and its photobiont, carotenoid-rich Trentepohlia aurea, as the origin of salmon-hued pigmented alterations of limestone surface. Furthermore, the development of the main deterioration symptom on the monument, i.e., biopitting, was instigated by the formation of typical endolithic thalli and ascomata of representative Verrucariaceae family (Verrucaria sp.) in conjunction with the oxalic acid-mediated dissolution of limestone. The domination of lichenized fungi, as the main deterioration agents, both on the relief and surrounding limestone, was additionally supported by the high relative abundance of lichenized and symbiotroph groups in FUNGuild analysis. Obtained results not only upgraded knowledge of this frequently occurring but often overlooked group of extremophilic stone heritage deteriogens but also provided a necessary groundwork for the development of efficient biocontrol formulation applicable in situ for the preservation of similarly affected limestone monuments.


Subject(s)
Biofilms , Calcium Carbonate , Lichens , Lichens/microbiology , Lichens/physiology , Slovenia , Ascomycota/physiology , Mycobiome
2.
Front Endocrinol (Lausanne) ; 15: 1387419, 2024.
Article in English | MEDLINE | ID: mdl-38911039

ABSTRACT

Introduction: Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of symptoms, while homozygous LPL deficiency presents with severe symptoms including acute pancreatitis, xanthomas, and lipemia retinalis. Methods: We described the clinical characteristics of three Slovenian patients (an 8-year-old female, an 18-year-old man, and a 57-year-old female) and one Pakistani patient (a 59-year-old male) with LPL deficiency. We performed next-generation sequencing (NGS) targeting all coding exons and intron-exon boundaries of the LPL gene, and Sanger sequencing for variant confirmation. In addition, we performed a systematic literature review of all cases with three identified variants and described their clinical characteristics. Results: Two Slovenian patients with a heterozygous pathogenic variant NM_000237.3:c.984G>T (p.Met328Ile) were diagnosed within the first three years of life and had triglyceride (TG) values of 16 and 20 mmol/L. An asymptomatic Pakistani patient with TG values of 36.8 mmol/L until the age of 44 years, was identified as heterozygous for a pathogenic variant NM_000237.3:c.724G>A (p.Asp242Asn). His TG levels dropped to 12.7 mmol/L on dietary modifications and by using fibrates. A Slovenian patient who first suffered from pancreatitis at the age of 18 years with a TG value of 34 mmol/L was found to be homozygous for NM_000237.3:c.337T>C (p.Trp113Arg). Conclusions: Patients with LPL deficiency had high TG levels at diagnosis. Homozygous patients had worse outcomes. Good diet and medication compliance can reduce severity.


Subject(s)
Lipoprotein Lipase , Humans , Male , Female , Slovenia/epidemiology , Adolescent , Middle Aged , Lipoprotein Lipase/genetics , Lipoprotein Lipase/deficiency , Child , Pakistan/epidemiology , Hyperlipoproteinemia Type I/genetics , Mutation
3.
Radiol Oncol ; 58(2): 258-267, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38860691

ABSTRACT

BACKGROUND: Recent evidence brought by novel anti-human epidermal growth factor receptor 2 (HER2) antibody-drug conjugates is leading to significant changes in HER2-negative breast cancer (BC) best practices. A new targetable category termed 'HER2-low' has been identified in tumors previously classified as 'HER2-negative'. Daily practice in pathology and medical oncology is expected to align to current recommendations, but patient access to novel anticancer drugs across geographies might be impeded due to local challenges. MATERIALS AND METHODS: An expert meeting involving ten regional pathology and oncology opinion leaders experienced in BC management in four Central and Eastern Europe (CEE) countries (Bulgaria, Croatia, Serbia, Slovenia) was held. Herein we summarized the current situation of HER2-low metastatic BC (mBC), local challenges, and action plans to prevent delays in patient access to testing and treatment based on expert opinion. RESULTS: Gaps and differences at multiple levels were identified across the four countries. These included variability in the local HER2-low epidemiology data, certification of pathology laboratories and quality control, and reimbursement conditions of testing and anticancer drugs for HER2-negative mBC. While clinical decisions were aligned to international guidelines in use, optimal access to testing and innovative treatment was restricted due to significant delays in reimbursement or limitative reimbursement conditions. CONCLUSIONS: Preventing delays in HER2-low mBC patient access to diagnosis and novel treatments is crucial to optimize outcomes. Multidisciplinary joint efforts and pro-active discussions between clinicians and decision makers are needed to improve care of HER2-low mBC patients in CEE countries.


Subject(s)
Breast Neoplasms , Receptor, ErbB-2 , Humans , Breast Neoplasms/drug therapy , Receptor, ErbB-2/metabolism , Receptor, ErbB-2/analysis , Female , Croatia , Serbia , Slovenia , Antineoplastic Agents/therapeutic use
4.
Harmful Algae ; 135: 102632, 2024 May.
Article in English | MEDLINE | ID: mdl-38830710

ABSTRACT

This article presents the first results on shellfish toxicity in the Slovenian sea (Gulf of Trieste, Adriatic Sea) since the analytical methods for the detection of biotoxins (PSP, ASP, DSP and other lipophilic toxins) in bivalve molluscs were included in the national monitoring program in 2013. In addition to toxins, the composition and abundance of toxic phytoplankton and general environmental characteristics of the seawater (surface temperature and salinity) were also monitored. During the 2014-2019 study period, only lipophilic toxins were detected (78 positive tests out of 446 runs), of which okadaic acid (OA) predominated in 97 % of cases, while dinophysistoxin-2 and yessotoxins only gave a positive result in one sampling event each. The number of samples that did not comply with the EC Regulation for the OA group was 17 or 3.8 % of all tests performed, all of which took place from September to November, while a few positive OA tests were also recorded in December, April, and May. This toxicity pattern was consistent with the occurrence pattern of the five most common DSP-producing dinoflagellates, which was supported by the development of warm and thermohaline stratified waters: Dinophysis caudata, D. fortii, D. sacculus, D. tripos and Phalacroma rotundatum. The strong correlation (r = 0.611, p < 0.001) between D. fortii, reaching abundances of up to 950 cells L-1, and OA suggests that D. fortii is the main cause of OA production in Slovenian waters. Strong interannual variations in OA and phytoplankton dynamics, exacerbated by the effects of anthropogenic impacts in this coastal ecosystem, reduce the predictability of toxicity events and require continuous and efficient monitoring. Our results also show that the introduction of the LC-MS/MS method for lipophilic toxins has improved the management of aquaculture activities, which was not as accurate based on mouse bioassays.


Subject(s)
Marine Toxins , Mytilus , Okadaic Acid , Phytoplankton , Okadaic Acid/analysis , Okadaic Acid/toxicity , Animals , Marine Toxins/analysis , Slovenia , Seafood/analysis , Seawater/chemistry , Dinoflagellida
5.
Brief Bioinform ; 25(4)2024 May 23.
Article in English | MEDLINE | ID: mdl-38833323

ABSTRACT

The emergence and rapid spread of SARS-CoV-2 prompted the global community to identify innovative approaches to diagnose infection and sequence the viral genome because at several points in the pandemic positive case numbers exceeded the laboratory capacity to characterize sufficient samples to adequately respond to the spread of emerging variants. From week 10, 2020, to week 13, 2023, Slovenian routine complete genome sequencing (CGS) surveillance network yielded 41 537 complete genomes and revealed a typical molecular epidemiology with early lineages gradually being replaced by Alpha, Delta, and finally Omicron. We developed a targeted next-generation sequencing based variant surveillance strategy dubbed Spike Screen through sample pooling and selective SARS-CoV-2 spike gene amplification in conjunction with CGS of individual cases to increase throughput and cost-effectiveness. Spike Screen identifies variant of concern (VOC) and variant of interest (VOI) signature mutations, analyses their frequencies in sample pools, and calculates the number of VOCs/VOIs at the population level. The strategy was successfully applied for detection of specific VOC/VOI mutations prior to their confirmation by CGS. Spike Screen complemented CGS efforts with an additional 22 897 samples sequenced in two time periods: between week 42, 2020, and week 24, 2021, and between week 37, 2021, and week 2, 2022. The results showed that Spike Screen can be applied to monitor VOC/VOI mutations among large volumes of samples in settings with limited sequencing capacity through reliable and rapid detection of novel variants at the population level and can serve as a basis for public health policy planning.


Subject(s)
COVID-19 , High-Throughput Nucleotide Sequencing , SARS-CoV-2 , Spike Glycoprotein, Coronavirus , Humans , SARS-CoV-2/genetics , SARS-CoV-2/isolation & purification , High-Throughput Nucleotide Sequencing/methods , COVID-19/virology , COVID-19/diagnosis , COVID-19/epidemiology , Spike Glycoprotein, Coronavirus/genetics , Mutation , Genome, Viral , Slovenia/epidemiology
6.
Nutrients ; 16(12)2024 Jun 17.
Article in English | MEDLINE | ID: mdl-38931267

ABSTRACT

BACKGROUND: The SI.Menu study offers the latest data on the dietary intake of Slovenian adolescents aged 10 to 17. The purpose of this study is to comprehensively assess their dietary intake (energy and nutrients) and compare their food intakes with dietary recommendations for healthy and sustainable diets. METHODS: The cross-sectional epidemiological dietary study SI.Menu (March 2017-April 2018) was conducted on a representative sample of Slovenian adolescents aged 10 to 17 years (n = 468) (230 males and 238 females). Data on dietary intake were gathered through two non-consecutive 24 h recalls, in line with the European Food Safety Authority (EFSA) EU Menu methodology. The repeated 24 h Dietary Recall (HDR) and Food Propensity Questionnaire (FPQ) data were combined to determine the usual intakes of nutrients and food groups, using the Multiple Source Method (MSM) program. RESULTS: Adolescents' diets significantly deviate from dietary recommendations, lacking vegetables, milk and dairy products, nuts and seeds, legumes, and water, while containing excessive meat (especially red meat) and high-sugar foods. This results in insufficient intake of dietary fibre, and nutrients such as vitamin D, folate, and calcium. CONCLUSIONS: The dietary intake of Slovenian adolescents does not meet healthy and sustainable diet recommendations. This study provides an important insight into the dietary habits of Slovenian adolescents that could be useful for future public health strategies.


Subject(s)
Diet, Healthy , Humans , Adolescent , Female , Male , Child , Slovenia , Cross-Sectional Studies , Diet/statistics & numerical data , Diet/standards , Feeding Behavior , Recommended Dietary Allowances , Diet Surveys , Eating , Energy Intake , Adolescent Nutritional Physiological Phenomena
7.
Ann Agric Environ Med ; 31(2): 219-226, 2024 Jun 27.
Article in English | MEDLINE | ID: mdl-38940106

ABSTRACT

INTRODUCTION AND OBJECTIVE: Smoking-free policies protect non-smokers from the negative effects of smoking, but many young adults still use products containing nicotine. The aim of this article is to analyze the factors that influence young people's attitudes towards the ban on smoking in public places. MATERIAL AND METHODS: Data were obtained from a representative sample of young adults aged 13-15 from the Global Youth Tobacco Survey (GYTS) conducted in the Czech Republic, Lithuania, Romania, Slovakia and Slovenia. Logistic regression analysis was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS: At least a quarter of the adolescents were exposed to cigarette smoking, about 40% have parents who smoke and over 50% declared that they have peers who smoke. A higher proportion of adolescents have knowledge about the harmful effects of second-hand smoking (62.6-71.9%), but at least one-fifth of young people are still exposed to the marketing of tobacco products. Compared with current smoking, those with never smoked were significantly associated with positive attitude toward to restricting smoking in all five analyzed countries, with an AOR= 4.74 (95% CI: 3.61-6.23), AOR=4.33 (95% CI: 2.32-8.07), AOR=2.85 (95% CI: 2.19-3.70) and AOR=2.45 (95% CI: 1.65-3.64), respectively. Gender, age, smoking, exposure to second-hand smoke, knowledge about the harmful effects of smoking, anti-smoking education, seeing people using tobacco and exposure to tobacco marketing, were significantly associated with the attitudes of young people towards restricting smoking in public places. CONCLUSIONS: The study provides useful information on factors that should be taken into account when planning anti-smoking strategies so that young people are able to resist the pressure to use tobacco products.


Subject(s)
Smoke-Free Policy , Humans , Adolescent , Male , Female , Lithuania , Slovakia , Czech Republic , Surveys and Questionnaires , Tobacco Smoke Pollution/prevention & control , Romania , Slovenia , Smoking/epidemiology , Smoking/psychology , Health Knowledge, Attitudes, Practice
8.
Medicina (Kaunas) ; 60(6)2024 Jun 10.
Article in English | MEDLINE | ID: mdl-38929576

ABSTRACT

Background and Objectives: Oral contraceptives (OCs) are usually used to treat endometriosis; however, the evidence is inconsistent about whether OC use in the past, when given to asymptomatic women, is protective against the development of future disease. We aimed to assess the relationship between the use of OCs and the likelihood of discovering endometriosis, considering the length of time under OCs during their fertile age. Materials and Methods: This was a monocentric retrospective cohort study in a tertiary-care University Hospital (Department of Human Reproduction, Division of Gynaecology and Obstetrics, University Medical Centre Ljubljana, Slovenia) carried out from January 2012 to December 2022. Reproductive-aged women scheduled for laparoscopic surgery for primary infertility and subsequent histopathological diagnosis of endometriosis were compared to women without an endometriosis diagnosis. They were classified based on the ratio of years of OC use to fertile years in four subgroups: never, <25%, between 25 and 50%, and >50. Results: In total, 1923 women (390 with and 1533 without endometriosis) were included. Previous OC use was higher in those with endometriosis than controls (72.31% vs. 58.64%; p = 0.001). Overall, previous OC usage was not related to histopathological diagnosis of endometriosis (aOR 1.06 [95% CI 0.87-1.29]). Women who used OCs for less than 25% of their fertile age had reduced risk of rASRM stage III endometriosis (aOR 0.50 [95% CI 0.26-0.95]; p = 0.036) or superficial implants (aOR 0.88 [95% CI 0.58-0.95]; p = 0.040). No significant results were retrieved for other rASRM stages. Using OCs for <25%, between 25 and 50%, or >50% of fertile age did not increase the risk of developing superficial endometriosis, endometriomas, or DIE. Conclusions: When OCs are used at least once, histological diagnoses of endometriosis are not increased. A protective effect of OCs when used for less than 25% of fertile age on superficial implants may be present. Prospective research is needed to corroborate the findings due to constraints related to the study's limitations.


Subject(s)
Contraceptives, Oral , Endometriosis , Humans , Endometriosis/complications , Female , Retrospective Studies , Adult , Contraceptives, Oral/therapeutic use , Infertility, Female/etiology , Infertility, Female/prevention & control , Slovenia/epidemiology , Risk Factors , Cohort Studies , Time Factors
9.
Medicina (Kaunas) ; 60(6)2024 Jun 13.
Article in English | MEDLINE | ID: mdl-38929595

ABSTRACT

Background and Objectives: The coronavirus disease 2019 (COVID-19) preventive measures affected various aspects of people's lives, while also representing an important risk factor for people's mental health. In the present study, we examined the negative psychological consequences of the preventive measures on people's mental health and the protective factors that strengthened their mental health and well-being during the pandemic. Materials and Methods: A study, using a combination of qualitative and quantitative methods based on a Delphi protocol, was conducted with a sample of Slovenian professionals who worked with people from different demographic groups (i.e., children and adolescents, emerging adults, the adult working population, the elderly) during the pandemic. We conducted (i) a qualitative study involving semi-structured interviews with 11 professionals and (ii) a quantitative study where 73 professionals completed a structured online questionnaire. Results: Experts recognized the disruption of informal face-to-face social contacts as the measure with the greatest impact on people's lives across all groups studied, the effect being particularly evident in relation to individuals' development period and socio-demographic characteristics. An individual's ability to adapt to change and emotional support provided by family or other close persons contributed significantly to maintaining mental health and well-being during the pandemic. Conclusions: Considering the interplay of various COVID-19-related risk and protective factors for mental health, enabling and promoting the maintenance and development of social relationships (including through alternative pathways) should be a priority aspect of (mental health) intervention for all demographic groups.


Subject(s)
COVID-19 , Delphi Technique , Mental Health , Humans , COVID-19/prevention & control , COVID-19/psychology , COVID-19/epidemiology , Adult , Male , Female , Adolescent , Aged , Slovenia/epidemiology , Middle Aged , SARS-CoV-2 , Pandemics/prevention & control , Surveys and Questionnaires , Young Adult , Child
10.
Microbiol Spectr ; 12(7): e0014024, 2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38809050

ABSTRACT

Surveillance schemes for methicillin-resistant Staphylococcus aureus (MRSA) are widely established at the national and international levels. Due to the simple standardization of the protocol, mainly isolates from bloodstream infections are used. However, the limitations of this simple surveillance system are well described. We conducted a comprehensive analysis of MRSA isolates in a large Slovenian region over 5 years to identify the optimal sample group for assessing the overall MRSA diversity. At the same time, this study provides to date non-available molecular characterization of Slovenian MRSA isolates. A total of 306 MRSA isolates from various sources were sequenced and phenotypically tested for resistance. The isolates exhibited significant molecular diversity, encompassing 30 multi locus sequence type (MLST) sequence types (STs), 39 ST-SCCmec genetic lineages, 49 spa types, and 29 antibiotic resistance profiles. Furthermore, the isolate pool comprised 57 resistance genes, representing 22 resistance mechanisms, and 96 virulence genes. While bloodstream isolates, commonly used in surveillance, provided insights into frequently detected clones, they overlooked majority of clones and important virulence and resistance genes. Blood culture isolates detected 21.3% spa types, 24.1% resistance phenotypes, and 28.2% MLST-SCCmec profiles. In contrast, strains from soft tissues demonstrated superior genomic diversity capture, with 65.3% spa types, 58.6% resistance phenotypes, and 71.8% MLST-SCCmec profiles. These strains also encompassed 100.0% of virulence and 82.5% of resistance genes, making them better candidates for inclusion in surveillance programs. This study highlights the limitations of relying solely on bloodstream isolates in MRSA surveillance and suggests incorporating strains from soft tissues to obtain a more comprehensive understanding of the epidemiology of MRSA.IMPORTANCEIn this study, we investigated the diversity of methicillin-resistant Staphylococcus aureus (MRSA), a bacterium that can cause infections that are difficult to treat due to its resistance to antimicrobial agents. Currently, surveillance programs for MRSA mainly rely on isolates from bloodstream infections, employing a standardized protocol. However, this study highlights the limitations of this approach and introduces a more comprehensive method. The main goal was to determine which group of samples is best suited to understand the overall diversity of MRSA and to provide, for the first time, molecular characterization of Slovenian MRSA isolates. Our results suggest that including MRSA strains from soft tissue infections rather than just blood infections provides a more accurate and comprehensive view of bacterial diversity and characteristics. This insight is valuable for improving the effectiveness of surveillance programs and for developing strategies to better manage MRSA infections.


Subject(s)
Genetic Variation , Methicillin-Resistant Staphylococcus aureus , Multilocus Sequence Typing , Staphylococcal Infections , Methicillin-Resistant Staphylococcus aureus/genetics , Methicillin-Resistant Staphylococcus aureus/isolation & purification , Methicillin-Resistant Staphylococcus aureus/classification , Methicillin-Resistant Staphylococcus aureus/drug effects , Humans , Staphylococcal Infections/microbiology , Staphylococcal Infections/epidemiology , Multilocus Sequence Typing/methods , Anti-Bacterial Agents/pharmacology , Slovenia/epidemiology , Microbial Sensitivity Tests , Virulence Factors/genetics , Male , Female , Virulence/genetics , Aged , Middle Aged
11.
Acta Pharm ; 74(2): 329-341, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38815203

ABSTRACT

This study investigates the 10-year trend in the sedative and anticholinergic burden among older adults in Slovenia, with the aim of identifying opportunities to optimize pharmacotherapy in this population. A retrospective drug utilization analysis was conducted based on a national anonymized database of dispensed prescriptions from 2009 to 2019. The study employed the sedative load model and the anticholinergic cognitive burden scale to assess the sedative and anti cholinergic burden, respectively. The findings indicate that in 2019, 45.6 % and 40.8 % of older adults (≥ 65 years) used sedative and anticholinergic medications, respectively. A high sedative load and a clinically significant anticholinergic burden were observed in a considerable proportion of older adults (13.2 % and 11.2 %, respectively, in 2019). The age-standardized prevalence of sedative load and anti-cholinergic burden significantly decreased over the 10-year study period by 5.6 % and 1.7 %, respectively (absolute difference), while the prevalence of clinically significant anticholinergic burden remained stable. Notably, the age groups 85-89 years and above 90 years had an increase in the proportion of individuals with a clinically significant anticholinergic burden over the years. These results emphasize the need for targeted interventions, particularly in the oldest age groups, to promote safe and effective medication use among older adults.


Subject(s)
Cholinergic Antagonists , Drug Utilization , Hypnotics and Sedatives , Humans , Slovenia , Aged , Aged, 80 and over , Male , Retrospective Studies , Female , Drug Utilization/trends , Drug Utilization/statistics & numerical data , Databases, Factual , Age Factors , Prevalence
12.
J Alzheimers Dis ; 99(2): 471-476, 2024.
Article in English | MEDLINE | ID: mdl-38728192

ABSTRACT

Slovenia, situated in Central Europe with a population of 2.1 million, has an estimated 44,278 individuals with mild cognitive impairment due to Alzheimer's disease or mild Alzheimer's dementia, rendering them potential candidates for disease-modifying treatment (DMT), such as lecanemab. We identified 114 potential candidates whose real-life expenses for diagnostic process surmount to more than €80,000. Treating all potential candidates nationwide would amount to €1.06 billion, surpassing Slovenia's entire annual medication expenditure for 2022 (€743 million). The introduction of DMTs and the associated logistics, along with potential complications, will significantly change societal, professional, and patient approach to treatment of Alzheimer's disease.


Subject(s)
Alzheimer Disease , Humans , Alzheimer Disease/therapy , Slovenia/epidemiology , Male , Aged , Female , Cognitive Dysfunction/therapy , Aged, 80 and over , Middle Aged , Antibodies, Monoclonal, Humanized
13.
Croat Med J ; 65(2): 76-84, 2024 Apr 30.
Article in English | MEDLINE | ID: mdl-38706233

ABSTRACT

AIM: To assess the knowledge about the long-term consequences of preterm birth and the need for training and information among various professionals working with preterm children and parents of preterm children. METHODS: In February and March 2018, physicians, psychologists, special education needs teachers, teachers, preschool teachers, and parents (N=488) filled in the Preterm Birth-Knowledge Scale and a survey regarding their perceptions and attitudes toward working with preterm children. RESULTS: Physicians and psychologists were most knowledgeable among the groups about the long-term consequences of preterm birth. Teachers, preschool teachers, and parents had significantly lower knowledge (F=23.18, P<0.001). The majority of professionals indicated that they did not feel adequately equipped to support the learning and development of preterm children and that they had not received sufficient training in this area. More than half indicated that they had received no formal training. In general, the participants tended to underestimate the long-term problems of preterm children. CONCLUSION: The findings underscore the importance of integrating the issue of the long-term outcomes of preterm birth and working with preterm children into formal education, and in other forms of educational activities.


Subject(s)
Health Knowledge, Attitudes, Practice , Health Personnel , Parents , Premature Birth , Humans , Female , Slovenia , Male , Premature Birth/psychology , Parents/psychology , Parents/education , Adult , Health Personnel/psychology , Health Personnel/education , Surveys and Questionnaires , Educational Personnel/psychology , Infant, Newborn , Middle Aged , Infant, Premature
14.
Front Public Health ; 12: 1406777, 2024.
Article in English | MEDLINE | ID: mdl-38813418

ABSTRACT

Introduction: Residents of long-term care facilities (LTCFs) are at high risk of morbidity and mortality due to COVID-19, especially when new variants of concern (VOC) emerge. To provide intradisciplinary data in order to tailor public health interventions during future epidemics, available epidemiologic and genomic data from Slovenian LTCFs during the initial phases of the COVID-19 pandemic was analyzed. Methods: The first part of the study included SARS-CoV-2 reverse-transcription Real-Time PCR (rtRT-PCR) positive LTCF residents, from 21 facilities with COVID-19 outbreaks occurring in October 2020. The second part of the study included SARS-CoV-2 rtRT-PCR positive LTCF residents and staff between January and April 2021, when VOC Alpha emerged in Slovenia. Next-generation sequencing (NGS) was used to acquire SARS-CoV-2 genomes, and lineage determination. In-depth phylogenetic and mutational profile analysis were performed and coupled with available field epidemiological data to assess the dynamics of SARS-CoV-2 introduction and transmission. Results: 370/498 SARS-CoV-2 positive residents as well as 558/699 SARS-CoV-2 positive residents and 301/358 staff were successfully sequenced in the first and second part of the study, respectively. In October 2020, COVID-19 outbreaks in the 21 LTCFs were caused by intra-facility transmission as well as multiple independent SARS-CoV-2 introductions. The Alpha variant was confirmed in the first LTCF resident approximately 1.5 months after the first Alpha case was identified in Slovenia. The data also showed a slower replacement of existing variants by Alpha in residents compared to staff and the general population. Discussion: Multiple SARS CoV-2 introductions as well as intra-facility spreading impacted disease transmission in Slovenian LTCFs. Timely implementation of control measures aimed at limiting new introductions while controlling in-facility transmission are of paramount importance, especially as new VOCs emerge. Sequencing, in conjunction with epidemiological data, can facilitate the determination of the need for future improvements in control measures to protect LTCF residents from COVID-19 or other respiratory infections.


Subject(s)
COVID-19 , Long-Term Care , SARS-CoV-2 , Humans , COVID-19/epidemiology , COVID-19/transmission , COVID-19/prevention & control , Slovenia/epidemiology , SARS-CoV-2/genetics , Long-Term Care/statistics & numerical data , Aged , Female , Male , Disease Outbreaks , Aged, 80 and over , High-Throughput Nucleotide Sequencing , Phylogeny , Middle Aged
15.
Chronobiol Int ; 41(5): 757-766, 2024 May.
Article in English | MEDLINE | ID: mdl-38695651

ABSTRACT

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 CSNK1D, PER2/3 and CRY1 genes. In a patient with an extreme morning chronotype and a family history of circadian sleep disorder we identified two heterozygous missense variants in PER3 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 PER2 gene in a patient with clinical picture of Delayed sleep phase disorder. The novel variant in PER2 (NM_022817.3):c.1901-218 G>T was found in proband's parent with eveningness, indicating an autosomal dominant inheritance. We identified a family with autosomal dominant inheritance of two PER3 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 PER2 variant with autosomal dominant inheritance, shedding the light into the genetic causality.


Subject(s)
Circadian Clocks , Period Circadian Proteins , Polymorphism, Single Nucleotide , Sleep Disorders, Circadian Rhythm , Humans , Period Circadian Proteins/genetics , Male , Female , Adult , Middle Aged , Sleep Disorders, Circadian Rhythm/genetics , Circadian Clocks/genetics , Circadian Rhythm/genetics , Circadian Rhythm/physiology , Genetic Predisposition to Disease , Slovenia , Pedigree , Sleep/genetics , Sleep/physiology , Young Adult
16.
BMC Prim Care ; 24(Suppl 1): 289, 2024 May 31.
Article in English | MEDLINE | ID: mdl-38822251

ABSTRACT

BACKGROUND: During the COVID-19 pandemic, family physicians (FPs) served as the the initial point of contact for patients potentially infected with the virus, necessitating frequent updates to treatment protocols. However, practices also faced organizational challenges in providing care to other patients who also needed their medical attention. The pressure on FPs increased and affected their well-being. The international PRICOV-19 study, titled "Primary care in times of COVID-19 pandemic," investigated how FPs functioned during the COVID-19 pandemic. This article examines the correlation between various organizational and structural COVID-19-related variables and the well-being of FPs in Slovenia. METHODS: Between October 2020 and January 2021, we conducted an online cross-sectional survey. The questionnaire was distributed to 1040 Slovenian FPs and 218 family medicine (FM) trainees. Part of the questionnaire assessed the cooperation and well-being of FPs. The Mayo Clinic Well-being Index was used for the assessment. FP's well-being was also assessed descriptively by asking open-ended questions about maintaining mental health during the pandemic. Potential factors associated with FPs' well-being were identified using a multivariate linear regression method. RESULTS: The final sample comprised 191 participants (response rate 14.1%). The mean value ± standard deviation of the Mayo Well-being Index was 3.3 ± 2.6 points. The FPs with the poorest well-being had 5-15 years of work experience and worked in a practice where work could not be distributed in the absence of a co-worker without compromising the well-being of colleagues. Physical activity was identified as the most common method of maintaining mental health among FPs. CONCLUSIONS: The results of the study suggest that targeted interventions are needed to support FPs mid-career, increase resilience in practice, promote strong team dynamics, and prioritise physical activity in healthcare. Addressing these aspects can contribute to the well-being of individual FPs and the overall health of the healthcare workers.


Subject(s)
COVID-19 , Physicians, Family , Humans , COVID-19/epidemiology , COVID-19/psychology , Slovenia/epidemiology , Cross-Sectional Studies , Male , Female , Adult , Physicians, Family/psychology , Middle Aged , Surveys and Questionnaires , SARS-CoV-2 , Mental Health , Pandemics , Primary Health Care
17.
Nutrients ; 16(10)2024 May 15.
Article in English | MEDLINE | ID: mdl-38794733

ABSTRACT

Older adults living in nursing homes (NH) are considered a population group that could be at risk in terms of nutrition, even more so than their community-dwelling peers. Evidence on the nutritional status of NH residents is scarce, as they are commonly excluded from population-based dietary studies. This is also the case in Slovenia. In the presented pilot study, we assessed the intake of macronutrients as well as the intake and status of vitamin D and vitamin B12 on a sample of NH and NH daycare center users to explore the need for a larger representative study. The pilot study included 37 participants from three Slovenian NH (20 participants) and their daycare centers (17 participants). Daycare centers offer daytime care services for older adults, where users are also provided with major meals during their stay. Intakes of energy and nutrients were estimated by three 24 h dietary records. Fasting blood samples were collected for the assessment of vitamin D and vitamin B12 status. Over 90% of the participants had daily energy and protein intakes below recommendations (reference values: energy intake: males 2100 kcal and females 1700 kcal; protein intake > 1 g/kg body mass). The males' median daily intakes of vitamin D were 1.7 µg (1.5 µg females), and 2.3 µg for vitamin B12 (2.0 µg females). None of the participants had adequate vitamin D intake (>20 µg), and 92.3% males and 87.5% females had inadequate vitamin B12 intake (<4 µg). The prevalence of vitamin D deficiency (serum 25-OH-D conc. < 30 nmol/L) was 100% among NH residents and 53% among NH daycare center users. The prevalence of vitamin B12 deficiency was found in 20% of NH residents. The study results highlighted that certain nutrients might be critical in this population, especially among NH residents; however, a more thorough investigation with the inclusion of other important markers of nutritional status should be performed on a larger, representative sample to support the development and implementation of appropriate public health interventions.


Subject(s)
Nursing Homes , Nutritional Status , Vitamin B 12 , Vitamin D Deficiency , Vitamin D , Humans , Female , Pilot Projects , Male , Vitamin B 12/blood , Vitamin B 12/administration & dosage , Aged , Vitamin D/blood , Vitamin D/administration & dosage , Aged, 80 and over , Vitamin D Deficiency/epidemiology , Vitamin D Deficiency/blood , Slovenia/epidemiology , Nutrients/analysis , Nutrients/administration & dosage , Energy Intake , Homes for the Aged , Vitamin B 12 Deficiency/epidemiology , Vitamin B 12 Deficiency/blood , Diet/statistics & numerical data , Nutrition Assessment
18.
Radiol Oncol ; 58(2): 268-278, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38613841

ABSTRACT

BACKGROUND: A fast and well-organized complex diagnostic process is important for better success in the treatment of lung cancer patients. The aim of our study was to reveal the gaps and inefficiencies in the diagnostic process and to suggest improvement strategies in a single tertiary centre in Slovenia. PATIENTS AND METHODS: We employed a comprehensive approach to carefully dissect all the steps in the diagnostic journey for individuals suspected of having lung cancer. We gathered and analysed information from employees and patients involved in the process by dedicated questionnaires. Further, we analysed the patients' data and calculated the diagnostic intervals for patients in two different periods. RESULTS: The major concerns among employees were stress and excessive administrative work. The important result of the visual journey and staff reports was the design of electronic diagnostic clinical pathway (eDCP), which could substantially increase safety and efficacy by diminishing the administrative burden of the employees. The patients were generally highly satisfied with diagnostic journey, but reported too long waiting times. By analysing two time periods, we revealed that diagnostic intervals exceeded the recommended timelines and got importantly shorter after two interventions - strengthening the diagnostic team and specially by purchase of additional PET-CT machine (the average time from general practitioner (GP) referral to the multidisciplinary treatment board (MDTB) decision was 50.8 [± 3.0] prior and 37.1 [± 2.3] days after the interventions). CONCLUSIONS: The study illuminated opportunities for refining the diagnostic journey for lung cancer patients, underscoring the importance of both administrative and capacity-related enhancements.


Subject(s)
Critical Pathways , Lung Neoplasms , Humans , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/diagnosis , Slovenia , Female , Male , Surveys and Questionnaires , Middle Aged , Aged , Quality Improvement , Patient Satisfaction , Positron Emission Tomography Computed Tomography
19.
JMIR Res Protoc ; 13: e53362, 2024 04 22.
Article in English | MEDLINE | ID: mdl-38648088

ABSTRACT

BACKGROUND: Rare diseases in Europe are defined as diseases with a prevalence of less than 5 per 10,000 people. Despite their individual rarity, the total number of rare diseases is considerable. Rare diseases are often chronic and complex, affecting physical, mental, and neurological health. People with rare diseases face challenges such as delayed diagnosis, limited medical support, and financial burden. Caregivers, usually family members, bear significant physical and emotional burdens. Understanding the experiences of patients with rare disease and their caregivers is critical to effective care, but this is still underresearched. Better support and understanding of the challenges faced by both patients and caregivers is clearly needed. Our study will explore the experiences and needs of people with rare diseases and caregivers of people with rare diseases in relation to accessing health services. OBJECTIVE: This study aims to explore the experiences of patients with rare disease and their caregivers with Slovenian health care providers and to create a theoretical model of needs and experiences. METHODS: This is a qualitative thematic analysis study, using the codebook approach. The study will conduct semi-open-ended interviews to understand the experiences and needs of people with rare diseases and caregivers of people with rare diseases in relation to accessing health services. The interview questions will be based on an extensive literature review. Data from the interviews will be analyzed using thematic analysis to identify patterns and build a thematic map. Data will be analyzed by at least 2 coders. To ensure reliability, respondent validation will be conducted and negative cases investigated. Any discrepancies will be resolved by consulting the entire research team until a consensus is reached. RESULTS: This study was not specifically funded. However, author TC is supported by grant number P3-0339 from the Slovenian Agency for Research and Innovation. This study was approved by the Medical Ethics Committee of the Republic of Slovenia (0120-47/2022/3), and recruitment is expected to begin in May 2024, with data analysis results anticipated by the end of 2025. CONCLUSIONS: This study will fill an important research gap in Slovenia by exploring the needs and experiences of people living with rare diseases and their caregivers. The results will contribute to the broader field of rare diseases and add knowledge that can inform future research processes and intervention strategies. It also aims to identify neglected areas that have a significant impact on the lives of people with rare diseases. This study is important not only because it addresses the immediate needs of the Slovenian rare disease community, but also because it contributes to a discussion on patient-centered care, health policy design, and the inclusion of psychosocial components in health care. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/53362.


Subject(s)
Caregivers , Health Personnel , Needs Assessment , Rare Diseases , Adult , Female , Humans , Male , Caregivers/psychology , Health Personnel/psychology , Health Services Needs and Demand , Qualitative Research , Rare Diseases/psychology , Rare Diseases/therapy , Slovenia
20.
Sci Rep ; 14(1): 9612, 2024 04 26.
Article in English | MEDLINE | ID: mdl-38671077

ABSTRACT

The Carniolan honey bee (Apis mellifera carnica) plays an essential role in crop pollination, environment diversity, and the production of honey bee products. However, the health of individual honey bees and their colonies is under pressure due to multiple stressors, including viruses as a significant threat to bees. Monitoring various virus infections could be a crucial selection tool during queen rearing. In the present study, samples from all developmental stages (eggs, larvae, pupae, and queens) were screened for the incidence of seven viruses during queen rearing in Slovenia. The screening of a total of 108 samples from five queen breeders was performed by the RT-qPCR assays. The results showed that the highest incidence was observed for black queen cell virus (BQCV), Lake Sinai virus 3 (LSV3), deformed wing virus B (DWV-B), and sacbrood virus (SBV). The highest viral load was detected in queens (6.07 log10 copies/queen) and larvae (5.50 log10 copies/larva) for BQCV, followed by SBV in larvae (5.47 log10 copies/larva). When comparing all the honey bee developmental stages, the eggs exhibited general screening for virus incidence and load in queen mother colonies. The results suggest that analyzing eggs is a good indicator of resilience to virus infection during queen development.


Subject(s)
Larva , Animals , Bees/virology , Larva/virology , RNA Viruses/genetics , RNA Viruses/isolation & purification , Insect Viruses/genetics , Insect Viruses/isolation & purification , Dicistroviridae/genetics , Dicistroviridae/pathogenicity , Dicistroviridae/isolation & purification , Viral Load , Ovum/virology , Female , Pupa/virology , Slovenia/epidemiology
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