3,846 results match your criteria: "University Medical Centre Ljubljana[Affiliation]"

Introduction: Football is a physically demanding sport that requires effective recovery strategies to maintain performance level and prevent injuries. This study investigated if a single 1-h hyperbaric oxygen therapy (HBOT) session affects recovery and performance after a football match in elite youth players.

Methods: Twenty elite youth football players (age 17.

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The quality and detection limits of mitochondrial heteroplasmy by long read nanopore sequencing.

Sci Rep

November 2024

Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, 1000, Slovenia.

Article Synopsis
  • - This study compares long-read and short-read sequencing methods to detect heteroplasmy in mitochondrial DNA using over 592,000 datasets generated from ultra-deep sequenced samples
  • - Results revealed that long-read sequencing had high accuracy and showed promise in detecting heteroplasmy at levels as low as 12%, but it may underreport higher-level variants
  • - The findings suggest that while nanopore sequencing could be beneficial for diagnosing mitochondrial diseases, careful validation is necessary to ensure the reliability of the diagnostic results
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  • * Current guidelines emphasize that lower levels of low-density lipoprotein cholesterol (LDL-C) are better, advocating for early and aggressive treatment, including a variety of effective medications beyond just statins.
  • * The International Lipid Expert Panel (ILEP) has published guidelines for optimizing LLT in post-ACS patients, highlighting the need for combination therapies and personalized care to improve adherence and treatment outcomes among high-risk individuals.
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There is an emerging group of distinct vascular neoplasms with NFATC1/2 fusions, involving bones and soft tissues and often displaying focal epithelioid morphology, variable atypia of endothelial cells, predominantly vasoformative and in some cases focal solid growth. Although they may show aggressive local growth and may recur locally, malignant behaviour has not been documented. We present a case of a 35-year-old woman with multiple vascular neoplasms with a EWSR1::NFATC2 fusion involving the lungs, multiple bones (vertebra, femurs, tibia, pelvis) and probably the liver.

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  • The study aimed to identify genetic variants responsible for early-onset high myopia in Slovenian children, as its genetic basis is not well understood.
  • A total of 36 children with high myopia were analyzed, and genetic causes were found in 61.1% of cases, with common syndromes like Stickler's and Pitt-Hopkins identified in those with systemic involvement.
  • The findings highlight the importance of genetic testing for diagnosing high myopia, which can aid in proactive management and counseling for affected children.
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Objectives: To re-evaluate cut-offs for disease activity states according to the Axial Spondyloarthritis Disease Activity Score (ASDAS), and study the impact of sex, age, calendar time, disease and symptom duration on ASDAS and ASDAS cut-offs in a large contemporary cohort.

Methods: Data from 2939 patients with axial spondyloarthritis (axSpA) starting their first tumour necrosis factor inhibitor in nine European registries were pooled and analysed. Receiver operating characteristic analyses were performed to identify cut-offs against external criteria.

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Brain malformations and seizures by impaired chaperonin function of TRiC.

Science

November 2024

Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.

Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures.

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Perinatal antibiotic exposure potentially leads to gut microbiota dysbiosis, which is associated with functional gastrointestinal disorders (FGIDs). We aimed to investigate the effects of Limosilactobacillus reuteri DSM 17938 supplementation on the development of FGIDs, crying and sleep duration, and the gut microbial composition in infants exposed to antibiotics during the neonatal period. In this randomised, double-blind, placebo-controlled study, we included 89 term neonates treated with antibiotics.

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Ovarian cancer in children and adolescents: A unique clinical challenge.

Eur J Surg Oncol

October 2024

Division of Gynaecology and Obstetrics, Department of Gynaecology University Medical Centre Ljubljana, Slajmerjeva 3, 1000, Ljubljana, Slovenia; Medical Faculty, University of Ljubljana, Vrazov Trg 2, 1000, Ljubljana, Slovenia.

Article Synopsis
  • - Ovarian cancer in children and adolescents is uncommon and requires a specialized approach, involving a team of healthcare providers to address its unique diagnostic and treatment challenges.
  • - Diagnosis often involves imaging tests and tumor markers, while surgical treatments should prioritize fertility preservation whenever possible, along with tailored chemotherapy based on the type of cancer and its stage.
  • - Early detection leads to high survival rates of over 90%, but ongoing follow-up is essential to monitor for recurrence and manage any long-term side effects from treatment.
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Implementing verifiable oncological imaging by quality assurance and optimization (i‑Violin) : Protocol for a European multicenter study.

Radiologie (Heidelb)

November 2024

Institute of Medical Technology, Faculty for electrical engineering and Information Technology, Otto-von-Guericke-University Magdeburg, Otto-Hahn-Str. 2, 39106, Magdeburg, Germany.

Background: Advanced imaging techniques play a pivotal role in oncology. A large variety of computed tomography (CT) scanners, scan protocols, and acquisition techniques have led to a wide range in image quality and radiation exposure. This study aims at implementing verifiable oncological imaging by quality assurance and optimization (i-Violin) through harmonizing image quality and radiation dose across Europe.

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Objective: This study aimed to develop, validate and test the clinical feasibility of ultrasound (US) speckle tracking method based on gradient optical flow for quantifying small longitudinal displacements, shear and strain in peripheral nerves.

Methods: The speckle tracking method was validated using seven thawed, fresh-frozen isolated cadaveric forearms. Longitudinal motion of the median nerve was captured using a high-frequency 22 MHz linear probe.

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Background: Uninterrupted folate metabolism plays a vital role in embryonic development, ensuring a supply of one-carbon-activated folate cofactors for essential processes. Folate deficiency has been implicated in the development of orofacial clefts (OFC) and congenital heart disease (CHD). Although both malformations have been extensively studied in lieu of folate deficiency, the results of corresponding studies are ambiguous due to the interplay of maternal and fetal genomes controlling folate metabolism in the developing fetus.

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Article Synopsis
  • The study investigates how genetic variations in oxidative stress, inflammation, and neurodevelopment affect spinal muscular atrophy (SMA) susceptibility and clinical progression, despite the strong influence of the SMN2 gene copy number.
  • Researchers analyzed genetic data from 54 SMA patients and 163 healthy controls, identifying specific polymorphisms linked to disease risk, type, symptom onset, and motor and respiratory functions.
  • Notable findings include protective effects from TNF rs1800629 and BDNF rs6265 against SMA, and associations with motor scores and lung function, highlighting the complexity of SMA's genetic landscape and potential for personalized treatments.
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  • * Routine screening for carotid stenosis in the general population is not recommended; however, targeted screening for high-risk patients can be beneficial, using tools like carotid duplex sonography.
  • * For patients with suspected significant carotid atherosclerosis, addressing it before CABG may reduce stroke risk, and current guidelines support synchronous surgery as safer than staged procedures, while the role of carotid artery stenting requires more research.
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A Deeper Look at Office Hysteroscopy in Asymptomatic Postmenopausal Patients: Indications and Outcomes of 822 Cases.

J Minim Invasive Gynecol

October 2024

Department of Gynecology, Division of Gynecology and Obstetrics, University Medical Centre Ljubljana, Faculty of Medicine, University of Ljubljana (Drs. Šuster, Blaganje, Starič, Podgornik, and Maček), Ljubljana, Slovenia.

Study Objective: This study aims to assess the prevalence of malignancy and other endometrial pathologies in asymptomatic postmenopausal women referred for office hysteroscopy (OH), identify main referral indications, and assess their relationship with the risk of malignancy. Secondary objectives included evaluating the association between ultrasound variables and malignancy risk and assessing procedure validity, which encompasses duration, feasibility, and patient comfort during OH.

Design: Retrospective analysis.

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Combined liver-kidney transplantation (CLKT) has evolved as a therapeutic option for patients with concurrent end-stage liver and renal diseases. This study evaluates the perioperative and long-term outcomes of CLKT at a single center in Slovenia, highlighting the challenges and successes of simultaneous organ transplantation. We retrospectively analyzed all patients undergoing simultaneous CLKT at the University Medical Centre Ljubljana from April 2014 to June 2023.

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Acute kidney injury (AKI) is an acute condition of impaired kidney function with decreased glomerular filtration rate, which results in dysregulation in volume, electrolyte, and acid-base equilibrium. AKI can be a life-threatening condition and can also lead to chronic kidney disease. It is important to diagnose AKI early in the course of the disease or to predict its development, as this can influence therapeutic decisions, outcome, and, consequently, the prognosis.

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The cornea is a vital component of the visual system, and its integrity is crucial for optimal vision. Damage to the cornea resulting from trauma, infection, or disease can lead to blindness. Corneal regeneration using mesenchymal stem cells (MSCs) and MSC-derived extracellular vesicles (MSC-EVs) offers a promising alternative to corneal transplantation.

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This study aimed to analyse the variability in the incidence of the pharyngocutaneous fistula (PCF), the most common complication following a total laryngectomy (TLE), and to identify the underlying causes for fluctuations in incidence rates. In the retrospective study, the annual PCF incidence data and comprehensive clinicopathologic data from 540 patients who underwent TLE between January 2004 and December 2022 were reviewed. Distinct peri ods of both high and low PCF incidence were identified.

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Adults with congenital heart disease: what every cardiologist should know about their care.

Eur Heart J

October 2024

Royal Brompton and Harefield Hospitals and National Heart and Lung Institute, Imperial College, London, UK.

As patients with congenital heart disease (CHD) continue to enjoy longer lives, non-congenital cardiologists and other healthcare professionals are increasingly encountering them in their practice and are challenged by their specific needs. Most under- and post-graduate medical training tends to overlook this common pathology, resulting in insufficient awareness of post-repair or post-palliation residual lesions and sequelae from previous interventions. In a strive towards improving the quality of care for this ever-growing cardiovascular patient cohort, it is prudent to outline the areas of concern and specific management needs pertaining to adult patients with CHD and share it with non-CHD professionals.

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Genetic profiling of in the Slovenian population.

Pharmacogenomics

November 2024

University of Ljubljana, Faculty of Pharmacy, Aškerčeva 7, Ljubljana, 1000, Slovenia.

Article Synopsis
  • This text discusses the use of pharmacogenomics to tailor thiopurine therapy based on genetic variants, initially focusing on its success in Asian populations but now recognized in European populations as well.
  • Researchers sequenced specific gene regions in Slovenian individuals to evaluate the pharmacogenetic role of variants related to thiopurine therapy for patients with acute lymphoblastic leukemia (ALL).
  • The study found several genetic variants, including one with known clinical relevance, but most variants were not linked to the dosage of thiopurines in ALL patients, suggesting the need for deeper studies in larger groups.
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Article Synopsis
  • Quetiapine has become a widely used drug in cases of acute intoxication and a literature review was conducted to understand its effects and risks.
  • The study analyzed 134 cases of quetiapine ingestion, revealing a common median dose of 10 g and a peak serum concentration (c) of 4 mg/L, with a longer half-life during acute intoxication compared to therapeutic use.
  • Higher doses and concentrations of quetiapine were linked to more severe clinical symptoms like central nervous system depression and tachycardia, with doses above 3 g or concentrations above 2 mg/L indicating a high risk for severe complications.
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Background: There is almost no data on the combined associations between apolipoprotein E gene (APOE) genotypes, trace elements (TEs), and lipid peroxidation in vivo. The aim of our study was to evaluate the association between APOE genotypes and TE levels in blood (B-TEs) and erythrocytes (E-TEs), and 8-isoprostane in urine (U-8-isoprostane) in women with low exposure to potentially toxic TEs and with adequate supply of essential TEs.

Methods: B-TEs, E-TEs and U-8-isoprostane were determined in 172 healthy women of childbearing age (30.

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Objective: There are noticeable sex differences in the treatment response to antihypertensives, with limited data on the response to single pill combinations. The aim of the PRECIOUS trial was to assess the treatment response to perindopril/amlodipine and perindopril/amlodipine/indapamide dual and triple single-pill combination in men and women.

Methods: Four hundred and forty adults with essential hypertension were assessed in the 16-week interventional, open-label, prospective, international, multicentre trial.

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The curvature of the lumbar spine plays a critical role in maintaining spinal function, stability, weight distribution, and load transfer. We have developed a mathematical model of the lumbar spine curve by introducing a novel mechanism: minimization of the elastic bending energy of the spine with respect to two biomechanical parameters: dimensionless lumbosacral spinal curvature and dimensionless curvature increment along the spine CI. While most of the biomechanical studies focus on a particular segment of the spine, the distinction of the presented model is that it describes the shape of the thoracolumbar spine by considering it as a whole (non-locally) and thus includes interactions between the different spinal levels in a holistic approach.

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