1. Universal screening for familial hypercholesterolemia in preschool children and their families in Slovenia (FH-FAMILIES) : a protocol for a study of four-stage screening programMia Becker, Bernarda Vogrin, Jan Kafol, Barbara Čugalj Kern, Urh Grošelj, 2025, izvirni znanstveni članek Povzetek: Familial hypercholesterolemia (FH) is the most common metabolic disease, with prevalence estimated between 1:250 and 1:300. The affected individuals have a significantly higher risk for developing atherosclerosis and cardiovascular disease (CVD) compared to non-affected individuals. Early CVD can be prevented with early detection and treatment of FH. In Slovenia we have been conducting a national three-staged program of universal screening for FH of preschoolers. Goals: Our goal is to collect data for 5000 children, which is approximately one-quarter of one generation of preschoolers for the year 2023 (n = 5000). Methods: Our study includes both prospective and retrospective components and is a non-interventional cohort study. The prospective component began in 2023, when a questionnaire was distributed to multiple community health centers and outpatient practices in Slovenia. Pediatricians or school medicine specialists completed these questionnaires. The retrospective component involves our research team collecting the remaining necessary data from existing medical records. We are going to follow our algorithm for the implementation of the universal cholesterol screening program and seek all children that will be referred to the Pediatric Lipid Clinic at the University Children’s Hospital, University Medical Centre (UCH-UMC), Ljubljana, for further genetic testing. If a child has a positive genetic result, their parents and siblings will undergo genetic testing. Conclusions: Despite being a common genetic disorder, familial hypercholesterolemia (FH) is still largely underdiagnosed globally; fewer than 10% of affected individuals are thought to be identified. Early detection through effective screening is therefore essential to improve outcomes and prevent premature cardiovascular events.
Ključne besede: hypercholesterolemia, universal screening, preschoolers, total cholesterol, genetic testing
Objavljeno v DiRROS: 11.12.2025; Ogledov: 326; Prenosov: 153
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2. Value of optical genome mapping (OGM) for diagnostics of rare diseases : a family case reportAnja Kovanda, Olivera Miljanović, Luca Lovrečić, Aleš Maver, Alenka Hodžić, Borut Peterlin, 2024, drugi znanstveni članki Povzetek: Optical genome mapping (OGM) is a novel method enabling the detection of structural genomic variants. The method is based on the laser image acquisition of single, labeled, high-molecular-weight DNA molecules and can detect structural genomic variants such as translocations, inversions, insertions, deletions, duplications, and complex structural rearrangements. We aim to present our experience with OGM at the Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Slovenia. Since its introduction in 2021, we have used OGM for the testing of facioscapulohumeral muscular dystrophy 1, characterization and resolution of variants identified by other technologies such as microarrays, exome and genome next-generation sequencing, karyotyping, as well as testing of rare disease patients in whom no genetic cause could be identified using these methods. We present an example family case of two previously undiagnosed male siblings with an overlapping clinical presentation of thrombocytopenia, obesity, and presacral teratoma. After karyotyping, microarray analysis and next-generation sequencing, by using OGM, a maternally inherited cryptic translocation t(X;18)(q27.1;q12.2) was identified in both brothers. Despite an extended segregation analysis, based on strictly applied ACMG criteria and ClinGen guidelines, the identified translocation remains a variant of unknown significance. Despite the remaining limitations of OGM, which will hopefully be resolved by improvements in databases of known benign SV variation and the establishment of official guidelines on the clinical interpretation of OGM variants, our work highlights the complexity of the diagnostic journey, including this novel method, in rare disease cases.
Ključne besede: optical genome mapping, OGM, structural variants, SV, genomic variants, rare disease genetic testing
Objavljeno v DiRROS: 04.12.2025; Ogledov: 297; Prenosov: 143
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3. The role of preconception parental health on embryo quality - preliminary results of a prospective study using non-invasive preimplantation genetic testing for aneuploidyMaja Tomic, Eda Vrtačnik-Bokal, Martin Štimpfel, 2025, izvirni znanstveni članek Povzetek: In this study, we aimed to correlate embryonic ploidy status studied with non-invasive preimplantation genetic testing for aneuploidy with the basic patient characteristics of the infertile couple to gain insight into the effects of parental physical health on embryo ploidy. We recruited 131 couples, who were stratified into 4 groups based on female age. We gathered general patient characteristics of the couple and determined the female’s hormonal status. We included 316 embryos in our study. Embryos were either transferred in the uterus in a fresh cycle or vitrified for later use. We collected spent embryo culture medium on either day 5 or 6 and performed whole genome amplification before using Next Generation Sequencing. Pregnancy outcomes were noted and cross-referenced with patient characteristics and the embryo’s ploidy status in a retrospective manner. While we have indirectly observed a level of maternal contamination, we nevertheless found a significant correlation between embryo ploidy status and cell free deoxyribonucleic acid concentration in spent embryo culture, as well a correlation between female age and embryo ploidy status. We observed a significant correlation between male body mass index and cell free deoxyribonucleic acid concentration in spent embryo culture medium and between male body mass index and pregnancy outcome. We illustrated a connection between male body mass index and cell free deoxyribonucleic acid, independent of female markers. This is the first study to observe not only female but male parameters in correlation to cell free deoxyribonucleic acid.
Ključne besede: non-invasive preimplantation genetic testing, aneuploidy, next-generation sequencing, embryo ploidy, male weight, female age, body mass index
Objavljeno v DiRROS: 26.11.2025; Ogledov: 310; Prenosov: 148
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4. Analysis of informed consent forms of patients undergoing cancer genetic testing in the era of next-generation sequencingTina Kerševan, Tina Kogovšek, Ana Blatnik, Mateja Krajc, 2025, izvirni znanstveni članek Povzetek: The Department of Clinical Cancer Genetics at the Institute of Oncology Ljubljana offers genetic counselling and testing to cancer patients and their relatives. Before undergoing genetic testing, patients sign the informed consent form. In addition to giving consent for collection of biological material and genetic testing, patients decide about storage of biological material and participation in international databases. Furthermore, patients decide whether the information regarding their test results may be revealed to their blood relatives and whether they want to be informed about secondary findings. Methods Using the signed consent forms, we investigated the effect of selected factors on patients’ decisions. Using different statistical methods, we tried to determine the proportion of patients who opted for different items and the effect of gender, age and cancer diagnoses on their decisions. Results Nearly all (99.6%) patients, regardless of gender, age, and presence of oncological diagnosis, consented to the storage of their biological material, 98.4% of patients, regardless of gender, age, and presence of oncological diagnosis, wanted to be included in international databases in a pseudo-anonymised form, 98.8% of patients, irrespective of gender, age, and presence of oncological diagnosis, allowed blood relatives to see their results, and 98.4% of patients, irrespective of gender, age and presence of oncological diagnosis, wanted to know whether secondary findings were detected when genetic analysis of their biological material was performed. Men are, on average, more likely to consent but the difference between genders is not statistically significant. Patients without oncological disease were more likely to agree to be included in international databases than patients with a confirmed oncological diagnosis. Conclusions Our results show that the vast majority of patients were in favour of the options they were offered. Most importantly, the majority of them allow their genetic test results be revealed to their blood relatives when needed and would participate in international databases. Research in rare diseases, including rare cancer genetic predisposition syndromes, is crucial for optimal diagnostic, prevention and treatment options for patients with rare genetic disorders. The results are also important for refining the approach to pre-and post-test cancer genetic counselling.
Ključne besede: informed consent, genetic counselling, genetic testing
Objavljeno v DiRROS: 19.11.2025; Ogledov: 255; Prenosov: 154
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