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1.
Radiol Oncol ; 58(3): 416-424, 2024 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-39287167

RESUMEN

BACKGROUND: To review the characteristics of all Slovenian patients with ocular adnexal lymphoma (OAL) in the period of 24 years with the aim of evaluating demographic data, lymphoma location and type, disease stage, treatment modality, local control rate and survival rate. PATIENTS AND METHODS: All patients with histologically diagnosed OAL in the main tertiary centre of Slovenia, Eye Hospital, University Medical Centre Ljubljana, who were treated at Institute of Oncology Ljubljana were included in the study. Patients' data were collected from October 1995 through April 2019. RESULTS: Seventy-four patients were included in the study having a median age of 68 years at diagnosis. The majority of lymphomas were of B-cell origin (98.6%). The most frequent type was the extranodal marginal zone B-cell lymphoma (MALT) (71.6%). Orbital lymphomas were diagnosed in 56 cases (75.7%) and conjunctival in 18 cases (24.3%). Ocular manifestation was the first sign of the disease in 78.4% of patients and in 67.6% of patients ocular adnexa were the only disease location. Fifty-one patients (68.9%) were treated with radiotherapy, 7 patients (9.4%) with systemic treatment, 5 patients (6.8%) with combined radiotherapy and systemic treatment and in 11 patients, biopsy and active surveillance strategy was applied (14.9%). Local control of the disease was achieved in 96.6% of treated patients. Median overall survival of the whole study group has not been reached yet. Five-year overall survival rate was 80.1% (95% CI 68.1% - 88.5%) and 5-year lymphoma specific survival rate was 87.2% (95% CI 83.2%-91.2%). CONCLUSIONS: OALs comprise a group of heterogeneous diseases with variable outcomes depending predominately on the patient's age and lymphoma type, with low grade lymphomas carrying good prognosis even in elderly patients.


Asunto(s)
Neoplasias del Ojo , Linfoma de Células B de la Zona Marginal , Humanos , Estudios Retrospectivos , Anciano , Masculino , Femenino , Persona de Mediana Edad , Anciano de 80 o más Años , Eslovenia/epidemiología , Adulto , Neoplasias del Ojo/terapia , Neoplasias del Ojo/mortalidad , Neoplasias del Ojo/patología , Linfoma de Células B de la Zona Marginal/terapia , Linfoma de Células B de la Zona Marginal/patología , Linfoma de Células B de la Zona Marginal/mortalidad , Linfoma/terapia , Linfoma/patología , Linfoma/mortalidad , Tasa de Supervivencia , Neoplasias Orbitales/patología , Neoplasias Orbitales/mortalidad , Neoplasias Orbitales/terapia , Estadificación de Neoplasias , Neoplasias de la Conjuntiva/terapia , Neoplasias de la Conjuntiva/patología , Neoplasias de la Conjuntiva/mortalidad
2.
BMJ Paediatr Open ; 8(1)2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39214549

RESUMEN

OBJECTIVE: Cerebral palsy (CP) is a group of neurological disorders with profound implications for children's development. The identification of perinatal risk factors for CP may lead to improved preventive and therapeutic strategies. This study aimed to identify the early predictors of CP using machine learning (ML). DESIGN: This is a retrospective case-control study, using data from the two population-based databases, the Slovenian National Perinatal Information System and the Slovenian Registry of Cerebral Palsy. Multiple ML algorithms were evaluated to identify the best model for predicting CP. SETTING: This is a population-based study of CP and control subjects born into one of Slovenia's 14 maternity wards. PARTICIPANTS: A total of 382 CP cases, born between 2002 and 2017, were identified. Controls were selected at a control-to-case ratio of 3:1, with matched gestational age and birth multiplicity. CP cases with congenital anomalies (n=44) were excluded from the analysis. A total of 338 CP cases and 1014 controls were included in the study. EXPOSURE: 135 variables relating to perinatal and maternal factors. MAIN OUTCOME MEASURES: Receiver operating characteristic (ROC), sensitivity and specificity. RESULTS: The stochastic gradient boosting ML model (271 cases and 812 controls) demonstrated the highest mean ROC value of 0.81 (mean sensitivity=0.46 and mean specificity=0.95). Using this model with the validation dataset (67 cases and 202 controls) resulted in an area under the ROC curve of 0.77 (mean sensitivity=0.27 and mean specificity=0.94). CONCLUSIONS: Our final ML model using early perinatal factors could not reliably predict CP in our cohort. Future studies should evaluate models with additional factors, such as genetic and neuroimaging data.


Asunto(s)
Parálisis Cerebral , Aprendizaje Automático , Humanos , Parálisis Cerebral/epidemiología , Parálisis Cerebral/diagnóstico , Parálisis Cerebral/etiología , Femenino , Estudios de Casos y Controles , Estudios Retrospectivos , Eslovenia/epidemiología , Masculino , Recién Nacido , Factores de Riesgo , Curva ROC , Embarazo , Sensibilidad y Especificidad
3.
Medicina (Kaunas) ; 60(8)2024 Jul 29.
Artículo en Inglés | MEDLINE | ID: mdl-39202509

RESUMEN

Background and Objectives: Out-of-hospital cardiac arrest (OHCA) and survival is a pressing matter all around the world. Despite years of research and great strides and advancements, survival remains alarmingly low. The aim of this study was to measure the survival and characteristics of patients having an OHCA in Slovenia, with an in-depth look at how the bystanders affect the return of spontaneous circulation (ROSC) and survival of OHCA. Materials and Methods: In this observational cross-sectional prospective study, we enrolled patients between 1 September 2022 and 30 November 2022, with a follow-up period of 1 month. All OHCAs attended by the emergency medical services were included. Data were collected and analyzed according to the Utstein 2015 reporting template. Independent predictors of ROSC and 30-day survival or survival were explored using ridge regression. Results: ROSC was achieved in 41% of cases where resuscitation was attempted. The overall 30-day survival rate where resuscitation was attempted was 14%. In 13% of all cases where resuscitation was attempted, patients had a favorable neurological outcome. Using our prediction model, we found that defibrillation under 20 min and ventricular fibrillation as an initial rhythm improves survival, whilst no defibrillation and bystander full cardiopulmonary resuscitation negatively predicted survival. Conclusions: Slovenia has OHCA 30-day survival comparable to the rest of the European Union. The favorable neurological outcome is high. Our data show that bystanders do not significantly improve survival. This represents an untapped potential of general public education in cardiopulmonary resuscitation and automatic external defibrillator use. Following good practices from abroad and improving layperson CPR knowledge could further improve OHCA survival.


Asunto(s)
Reanimación Cardiopulmonar , Servicios Médicos de Urgencia , Paro Cardíaco Extrahospitalario , Paro Cardíaco Extrahospitalario/terapia , Paro Cardíaco Extrahospitalario/mortalidad , Humanos , Eslovenia/epidemiología , Masculino , Femenino , Estudios Prospectivos , Persona de Mediana Edad , Anciano , Estudios Transversales , Reanimación Cardiopulmonar/estadística & datos numéricos , Reanimación Cardiopulmonar/métodos , Servicios Médicos de Urgencia/estadística & datos numéricos , Servicios Médicos de Urgencia/métodos , Servicios Médicos de Urgencia/normas , Anciano de 80 o más Años , Adulto
4.
J Med Virol ; 96(8): e29827, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39056240

RESUMEN

Enterovirus (EV) infections have various symptoms and severe complications, including death. To determine EV prevalence and EV types in Slovenia, data on over 25 000 EV RNA tests for diagnostics and surveillance from 2014 to 2023 were analyzed. Altogether, 3733 cerebrospinal fluid (CSF) and 21 297 respiratory (sentinel and clinical) samples were tested for EV RNA. EV typing was performed on all residual EV-positive CSF samples and on subset of respiratory specimens. Altogether, 1238 samples tested positive for EV RNA: 238 (6.4%) CSF and 1000 (4.7%) respiratory samples. EV-positive patients were predominantly male (p < 0.001). Many EV-positive CSF samples were from infants under 3 months (33.1%), whereas most EV-positive respiratory samples were from children 1 to 2 years old (49.2%). Echovirus 30 (E-30) was most frequent in CSF (33.0%), followed by CV-B5 (13.8%) and E-6 (13.8%). CV-A6 was most frequent in respiratory samples (16.0%), followed by EV-D68 (7.6%) and CV-A5 (7.4%). EV types in CSF and respiratory samples show diverse dynamics, with some outbreaks indicated. A significant difference was found in the EV detection rate between CSF and respiratory samples by age. Various EV types were characterized, showing that some EV types are more neurotropic or cause more severe infections.


Asunto(s)
Infecciones por Enterovirus , Enterovirus , Epidemiología Molecular , Humanos , Eslovenia/epidemiología , Lactante , Masculino , Infecciones por Enterovirus/epidemiología , Infecciones por Enterovirus/virología , Infecciones por Enterovirus/líquido cefalorraquídeo , Femenino , Preescolar , Enterovirus/genética , Enterovirus/aislamiento & purificación , Enterovirus/clasificación , Niño , Adolescente , ARN Viral/genética , ARN Viral/líquido cefalorraquídeo , Infecciones del Sistema Respiratorio/virología , Infecciones del Sistema Respiratorio/epidemiología , Infecciones del Sistema Respiratorio/líquido cefalorraquídeo , Recién Nacido , Adulto , Adulto Joven , Prevalencia , Líquido Cefalorraquídeo/virología , Genotipo , Persona de Mediana Edad , Anciano , Filogenia
5.
Int J Mol Sci ; 25(14)2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-39062917

RESUMEN

Determining the genetic contribution of susceptibility to severe SARS-CoV-2 infection outcomes is important for public health measures and individualized treatment. Through intense research on this topic, several hundred genes have been implicated as possibly contributing to the severe infection phenotype(s); however, the findings are complex and appear to be population-dependent. We aimed to determine the contribution of human rare genetic variants associated with a severe outcome of SARS-CoV-2 infections and their burden in the Slovenian population. A panel of 517 genes associated with severe SARS-CoV-2 infection were obtained by combining an extensive review of the literature, target genes identified by the COVID-19 Host Genetic Initiative, and the curated Research COVID-19 associated genes from PanelApp, England Genomics. Whole genome sequencing was performed using PCR-free WGS on DNA from 60 patients hospitalized due to severe COVID-19 disease, and the identified rare genomic variants were analyzed and classified according to the ACMG criteria. Background prevalence in the general Slovenian population was determined by comparison with sequencing data from 8025 individuals included in the Slovenian genomic database (SGDB). Results show that several rare pathogenic/likely pathogenic genomic variants in genes CFTR, MASP2, MEFV, TNFRSF13B, and RNASEL likely contribute to the severe infection outcomes in our patient cohort. These results represent an insight into the Slovenian genomic diversity associated with a severe COVID-19 outcome.


Asunto(s)
COVID-19 , Predisposición Genética a la Enfermedad , SARS-CoV-2 , Humanos , COVID-19/genética , COVID-19/epidemiología , COVID-19/virología , Eslovenia/epidemiología , SARS-CoV-2/genética , Masculino , Femenino , Persona de Mediana Edad , Anciano , Secuenciación Completa del Genoma , Variación Genética , Adulto , Genómica/métodos , Pandemias , Infecciones por Coronavirus/genética , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/virología , Betacoronavirus/genética
6.
BMC Public Health ; 24(1): 1942, 2024 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-39030522

RESUMEN

BACKGROUND: Suicidal ideation is a depression symptom which represents a key (cognitive) component of suicidality and plays an important role in suicide risk detection, intervention, and prevention. Despite existing research showing the importance of certain factors of depression symptoms and suicidal ideation, less is known about the interaction between the various risk and protective factors. The aim of the study was to examine whether living conditions characteristics and personal circumstances during the COVID-19 pandemic predicted the presence of depression symptoms and suicidal ideation among tertiary students and whether resilience and social support can mitigate the detrimental effects of difficult life circumstances. METHOD: A large online cross-sectional study was conducted in March 2021 among 4,645 Slovenian tertiary students. Hierarchical multiple regression and hierarchical logistic regression methods were used to assess and compare the effect of life circumstances variables, as opposed to resilience and social support, on depression symptoms and suicidal ideation. RESULTS: Female gender, single relationship status, living alone, a higher degree of household conflict, having a history of mental illness and chronic disease diagnosis were significant predictors of depression scores. All but gender were also predictors of suicidal ideation. Household conflict and a history of mental illness were the factors showing the strongest effect in both cases. On the other hand, social support and, in particular, resilience proved to be strong protective factors against depression symptoms and suicidal ideation. After accounting for one's resilience and social support, the explained variance in depression scores was more than doubled, while the harmful effect of household conflict and history of mental illness significantly decreased. CONCLUSIONS: The findings stress the importance of one's resilience and social support and explain why some people manage to maintain mental well-being despite finding themselves in difficult life circumstances, which was the case for many tertiary students during the COVID-19 pandemic. These insights may inform preventive efforts against developing suicidal ideation and may be used as support for the design and implementation of interventions for improving resilience and social support from childhood onward.


Asunto(s)
COVID-19 , Factores Protectores , Resiliencia Psicológica , Apoyo Social , Estudiantes , Ideación Suicida , Humanos , Estudios Transversales , COVID-19/psicología , COVID-19/epidemiología , COVID-19/prevención & control , Masculino , Femenino , Estudiantes/psicología , Estudiantes/estadística & datos numéricos , Adulto Joven , Adulto , Eslovenia/epidemiología , Depresión/epidemiología , Depresión/psicología , Universidades , Adolescente , Factores de Riesgo
7.
Clin Genet ; 106(4): 500-504, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38860409

RESUMEN

DSP-cardiomyopathy has recently been recognised as a specific type of cardiomyopathy. Using an in-house Mendelian disease registry, we aimed to identify probands with likely pathogenic or pathogenic DSP variants. We detected these variants in 4.8% and 77.8% of genotype-positive probands referred for dilated and non-dilated left ventricular cardiomyopathy (NDLVC), respectively. We identified six Slovenian probands with the DSP:c.3793G>T and characterised them along with further eight of their relatives at the molecular and phenotypic level. Medical records revealed NDLVC with arrhythmia in six individuals (five probands, one relative; 33 ± 14 years; three males, three females). All had subepicardial late gadolinium enhancement on cardiac MRI (CMRI), and five received an ICD. Four individuals (one proband, three relatives; 48 ± 14 years; all female) had no ECG and/or cardiac abnormalities on CMRI detected. Our analysis presents a Slovenian-specific molecular pathology of DSP cardiomyopathy, delineates the clinical manifestation of DSP:c.3793C>T, and thereby improves the understanding of the clinical outcomes associated with truncating DSP variants.


Asunto(s)
Arritmias Cardíacas , Humanos , Femenino , Masculino , Eslovenia/epidemiología , Adulto , Persona de Mediana Edad , Arritmias Cardíacas/genética , Codón sin Sentido/genética , Linaje , Cardiomiopatías/genética , Cardiomiopatías/diagnóstico por imagen , Fenotipo , Predisposición Genética a la Enfermedad , Genotipo , Adulto Joven
8.
Front Endocrinol (Lausanne) ; 15: 1387419, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38911039

RESUMEN

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.


Asunto(s)
Lipoproteína Lipasa , Humanos , Masculino , Femenino , Eslovenia/epidemiología , Adolescente , Persona de Mediana Edad , Lipoproteína Lipasa/genética , Lipoproteína Lipasa/deficiencia , Niño , Pakistán/epidemiología , Hiperlipoproteinemia Tipo I/genética , Mutación
9.
Brief Bioinform ; 25(4)2024 May 23.
Artículo en Inglés | MEDLINE | ID: mdl-38833323

RESUMEN

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.


Asunto(s)
COVID-19 , Secuenciación de Nucleótidos de Alto Rendimiento , SARS-CoV-2 , Glicoproteína de la Espiga del Coronavirus , Humanos , SARS-CoV-2/genética , SARS-CoV-2/aislamiento & purificación , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , COVID-19/virología , COVID-19/diagnóstico , COVID-19/epidemiología , Glicoproteína de la Espiga del Coronavirus/genética , Mutación , Genoma Viral , Eslovenia/epidemiología
10.
Medicina (Kaunas) ; 60(6)2024 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-38929576

RESUMEN

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.


Asunto(s)
Anticonceptivos Orales , Endometriosis , Humanos , Endometriosis/complicaciones , Femenino , Estudios Retrospectivos , Adulto , Anticonceptivos Orales/uso terapéutico , Infertilidad Femenina/etiología , Infertilidad Femenina/prevención & control , Eslovenia/epidemiología , Factores de Riesgo , Estudios de Cohortes , Factores de Tiempo
11.
Medicina (Kaunas) ; 60(6)2024 Jun 13.
Artículo en Inglés | MEDLINE | ID: mdl-38929595

RESUMEN

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.


Asunto(s)
COVID-19 , Técnica Delphi , Salud Mental , Humanos , COVID-19/prevención & control , COVID-19/psicología , COVID-19/epidemiología , Adulto , Masculino , Femenino , Adolescente , Anciano , Eslovenia/epidemiología , Persona de Mediana Edad , SARS-CoV-2 , Pandemias/prevención & control , Encuestas y Cuestionarios , Adulto Joven , Niño
12.
Wien Med Wochenschr ; 174(11-12): 257-261, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38836948

RESUMEN

INTRODUCTION: Over the past decade, the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) proposed the option of diagnosing coeliac disease (CD) in children without duodenal biopsy. The aim of our study was to assess the diagnostic approach in newly diagnosed children with CD in Slovenia. METHODS: In this prospective study, Slovenian paediatric gastroenterologists were invited to provide medical records of children under 19 years diagnosed with CD from March 2021 to October 2023. The analysis focused on tissue transglutaminase antibody (TGA) levels at diagnosis, diagnostic approach, adherence to ESPGHAN CD guidelines and diagnostic delays. RESULTS: Data from 160 newly diagnosed CD patients (61.9% female; median age 8 years; 16.9% asymptomatic) were available for the analysis. No-biopsy approach was used in 65% (N = 104) of children and the majority (N = 101) fulfilled all the criteria for the no-biopsy approach. Of 56 children diagnosed using duodenal biopsy, a further 10 (17.8%) would have also been eligible for the no-biopsy approach based on the very high levels of TGA. Median diagnostic delay from first symptoms to confirmation of diagnosis was 6 months (min 0 months, max 87 months). Use of the no-biopsy approach has risen significantly since 2016 (37.8% vs. 65.0%; p = 0.001) and diagnostic delays have shortened (6 vs. 7 months; p < 0.05). CONCLUSION: This prospective study highlights the frequent use of a no-biopsy approach for diagnosing CD in children in Slovenia, showing large adherence to ESPGHAN guidelines. Also, diagnostic delays have shortened over recent years, likely due to various awareness-raising projects on CD conducted during this period.


Asunto(s)
Enfermedad Celíaca , Diagnóstico Tardío , Humanos , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/epidemiología , Eslovenia/epidemiología , Niño , Femenino , Masculino , Estudios Prospectivos , Preescolar , Adolescente , Biopsia , Lactante , Transglutaminasas/inmunología , Duodeno/patología , Adhesión a Directriz , Proteína Glutamina Gamma Glutamiltransferasa 2
13.
Microbiol Spectr ; 12(7): e0014024, 2024 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-38809050

RESUMEN

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.


Asunto(s)
Variación Genética , Staphylococcus aureus Resistente a Meticilina , Tipificación de Secuencias Multilocus , Infecciones Estafilocócicas , Staphylococcus aureus Resistente a Meticilina/genética , Staphylococcus aureus Resistente a Meticilina/aislamiento & purificación , Staphylococcus aureus Resistente a Meticilina/clasificación , Staphylococcus aureus Resistente a Meticilina/efectos de los fármacos , Humanos , Infecciones Estafilocócicas/microbiología , Infecciones Estafilocócicas/epidemiología , Tipificación de Secuencias Multilocus/métodos , Antibacterianos/farmacología , Eslovenia/epidemiología , Pruebas de Sensibilidad Microbiana , Factores de Virulencia/genética , Masculino , Femenino , Virulencia/genética , Anciano , Persona de Mediana Edad
14.
Front Public Health ; 12: 1406777, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38813418

RESUMEN

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.


Asunto(s)
COVID-19 , Cuidados a Largo Plazo , SARS-CoV-2 , Humanos , COVID-19/epidemiología , COVID-19/transmisión , COVID-19/prevención & control , Eslovenia/epidemiología , SARS-CoV-2/genética , Cuidados a Largo Plazo/estadística & datos numéricos , Anciano , Femenino , Masculino , Brotes de Enfermedades , Anciano de 80 o más Años , Secuenciación de Nucleótidos de Alto Rendimiento , Filogenia , Persona de Mediana Edad
15.
Nutrients ; 16(10)2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38794733

RESUMEN

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.


Asunto(s)
Casas de Salud , Estado Nutricional , Vitamina B 12 , Deficiencia de Vitamina D , Vitamina D , Humanos , Femenino , Proyectos Piloto , Masculino , Vitamina B 12/sangre , Vitamina B 12/administración & dosificación , Anciano , Vitamina D/sangre , Vitamina D/administración & dosificación , Anciano de 80 o más Años , Deficiencia de Vitamina D/epidemiología , Deficiencia de Vitamina D/sangre , Eslovenia/epidemiología , Nutrientes/análisis , Nutrientes/administración & dosificación , Ingestión de Energía , Hogares para Ancianos , Deficiencia de Vitamina B 12/epidemiología , Deficiencia de Vitamina B 12/sangre , Dieta/estadística & datos numéricos , Evaluación Nutricional
16.
J Alzheimers Dis ; 99(2): 471-476, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38728192

RESUMEN

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.


Asunto(s)
Enfermedad de Alzheimer , Humanos , Enfermedad de Alzheimer/terapia , Eslovenia/epidemiología , Masculino , Anciano , Femenino , Disfunción Cognitiva/terapia , Anciano de 80 o más Años , Persona de Mediana Edad , Anticuerpos Monoclonales Humanizados
17.
BMC Prim Care ; 24(Suppl 1): 289, 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38822251

RESUMEN

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.


Asunto(s)
COVID-19 , Médicos de Familia , Humanos , COVID-19/epidemiología , COVID-19/psicología , Eslovenia/epidemiología , Estudios Transversales , Masculino , Femenino , Adulto , Médicos de Familia/psicología , Persona de Mediana Edad , Encuestas y Cuestionarios , SARS-CoV-2 , Salud Mental , Pandemias , Atención Primaria de Salud
18.
Sci Rep ; 14(1): 9612, 2024 04 26.
Artículo en Inglés | MEDLINE | ID: mdl-38671077

RESUMEN

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.


Asunto(s)
Larva , Animales , Abejas/virología , Larva/virología , Virus ARN/genética , Virus ARN/aislamiento & purificación , Virus de Insectos/genética , Virus de Insectos/aislamiento & purificación , Dicistroviridae/genética , Dicistroviridae/patogenicidad , Dicistroviridae/aislamiento & purificación , Carga Viral , Óvulo/virología , Femenino , Pupa/virología , Eslovenia/epidemiología
19.
Eur J Gastroenterol Hepatol ; 36(6): 728-734, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38625825

RESUMEN

BACKGROUND: With the increasing number of inflammatory bowel disease (IBD) patients, it is difficult to manage them within specialised IBD teams in academic medical centres: many are therefore treated in nonacademic IBD centres. It is unclear whether the time to introducing biologics is the same in both settings. AIM: We aimed to compare treatment approach with biologics in academic vs. nonacademic centres. METHODS: We analysed Slovenian national IBD registry data (UR-CARE Registry, supported by the European Crohn's and Colitis Organisation), which included 2 academic (2319 patients) and 4 nonacademic IBD (429 patients) centres. RESULTS: The disease phenotype was similar in both settings. In total, 1687 patients received 2782 treatment episodes with biologics. We observed no differences in treatment episodes with TNF-alpha inhibitors (60% vs. 61%), vedolizumab (24% vs. 23%), or ustekinumab (17% vs. 16%) in academic compared to nonacademic centres ( P  = 0.949). However, TNF inhibitors were less often the first biologic in academic centres (TNF inhibitors: 67.5% vs. 74.0%, vedolizumab: 20.3% vs. 17.9%, ustekinumab: 12.1% vs. 8.1%; P = 0.0096). Consequently, more patients received ustekinumab (29.8% vs. 18.3%) and vedolizumab (17.4% vs. 13.5%) and fewer TNF inhibitors (52.7% vs. 68.2%) for Crohn's disease in academic compared to nonacademic centres, with no such differences for ulcerative colitis. The time to initiation of the first biologic from diagnosis was short and similar in both settings (11.3 vs. 10.4 months, P  = 0.2). CONCLUSION: In this nationwide registry analysis, we observed that biological treatment choice was similar in academic and nonacademic settings. These findings support the decentralisation of IBD care.


Asunto(s)
Centros Médicos Académicos , Anticuerpos Monoclonales Humanizados , Sistema de Registros , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Anticuerpos Monoclonales Humanizados/uso terapéutico , Productos Biológicos/uso terapéutico , Colitis Ulcerosa/tratamiento farmacológico , Colitis Ulcerosa/terapia , Enfermedad de Crohn/tratamiento farmacológico , Enfermedad de Crohn/terapia , Fármacos Gastrointestinales/uso terapéutico , Enfermedades Inflamatorias del Intestino/tratamiento farmacológico , Enfermedades Inflamatorias del Intestino/terapia , Pautas de la Práctica en Medicina/estadística & datos numéricos , Eslovenia/epidemiología , Factores de Tiempo , Resultado del Tratamiento , Inhibidores del Factor de Necrosis Tumoral/uso terapéutico , Ustekinumab/uso terapéutico
20.
Helicobacter ; 29(2): e13082, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38680036

RESUMEN

BACKGROUND: Helicobacter pylori (H. pylori) infection is primarily acquired in childhood and is notably influenced by socioeconomic variances across different geographical regions. The aim of this study is to assess the prevalence of H. pylori infection in Slovenian children and to identify potential risk factors that facilitate the infection. MATERIALS AND METHODS: Between 2019 and 2022, we conducted a multi-center prospective cross-sectional study among healthy children residing in three different administrative regions in Slovenia. H. pylori infection status was determined using a monoclonal antibody-based stool antigen test (SAT). A standardized questionnaire was designed to evaluate the influence of various H. pylori-associated risk factors, including demographics and socioeconomic, housing and sanitation conditions. RESULTS: During the 3-year period, we recruited a total of 421 children and adolescents (age range 2-18 years, mean age 10.29 ± 4.95 years). Overall, 46 (10.9%) were diagnosed with H. pylori infection. No associations were found between H. pylori prevalence rates and increasing age, sex, parental education level, country of birth of the child or their parents, number of household members, household income, having a dishwasher, owning a pet, duration of breastfeeding, fruit intake frequency, drinking tap water, and handwashing practices. The only parameters associated with an increased risk of infection were the location of the school (p < 0.001) and living in an urban area (p = 0.036). The odds of infection were approximately 4.77 times higher if the child attended school in the Central Slovenian compared to other regions (OR = 4.77; 95% CI 0.87-2.34). CONCLUSIONS: This is the first study providing information on the prevalence of H. pylori infection among Slovenian children and adolescents. Using SAT, we have shown that the burden of H. pylori infection in our pediatric population is low; however, it seems to depend on regional rather than socioeconomic factors.


Asunto(s)
Infecciones por Helicobacter , Helicobacter pylori , Humanos , Infecciones por Helicobacter/epidemiología , Eslovenia/epidemiología , Adolescente , Niño , Masculino , Femenino , Estudios Prospectivos , Prevalencia , Preescolar , Estudios Transversales , Helicobacter pylori/aislamiento & purificación , Factores de Riesgo , Encuestas y Cuestionarios
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