1. Cascade screening of a Pakistani consanguineous familial hypercholesterolemia cohort : identification of seven new homozygous patientsQuratul Ain, Jaka Šikonja, Fouzia Sadiq, Saeed Shafi, Jan Kafol, Tevž Gorjanc, Urša Šuštar, Jernej Kovač, Mohammad Iqbal Khan, Muhammad Ajmal, Urh Grošelj, 2025, izvirni znanstveni članek Povzetek: Background and aims: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth, significantly increasing the risk of premature cardiac events and mortality. In Pakistan, despite the potential burden of FH, comprehensive studies evaluating its genetic characteristics, cascade screening significance, and lipoprotein (a) [Lp(a)] levels remain scarce. Understanding these factors is crucial for effective diagnosis, risk assessment, and management of FH in the Pakistani population. Methods: After the identification of index case with clinical homozygous FH, characterized by high LDL-C and high Lp(a) levels together with a positive personal and family history of cardiovascular disease, a cascade screening of 66 relatives from a consanguineous family was performed. Blood samples were obtained from all subjects for biochemical and genetic analysis. Simon Broome criteria was applied on children for clinical FH diagnosis. Dutch Lipid Clinic Network scores were calculated for individuals aged ≥16years. Genetic screening was performed using next-generation sequencing to analyse all coding regions and exon-intron borders of the following genes: ALMS1, APOA1, APOB, APOA5, APOC2, APOC3, APOE, ABCA1, ABCG5, ABCG8, CREB3L3, GPIHBP1, LDLR, LDLRAP1, LIPA, LMF1, LPL, and PCSK9. The identified variants were confirmed using Sanger sequencing. Results: Cascade screening identified seven homozygous and 25 heterozygous FH patients with pathogenic variant in the LDLR gene (NM_000527.5: c.2416dupG: p. Val806GlyfsTer11). Additionally, heterozygous variants of uncertain significance were identified in 4 other subjects. Conclusion: This study underscores the high effectiveness of cascade screening in consanguineous families and societies that could lead to early detection and prevention.
Ključne besede: cardiovascular disease, cascade screening, consanguineous, familial hypercholesterolemia, homozygous
Objavljeno v DiRROS: 09.04.2026; Ogledov: 48; Prenosov: 27
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2. Effect of complete revascularization in STEMI : ischemia-driven rehospitalization and cardiovascular mortalityMiha Šušteršič, Matjaž Bunc, 2025, izvirni znanstveni članek Povzetek: Background: Patients with ST-elevation myocardial infarction (STEMI) and multivessel coronary artery disease (MVD) who undergo complete revascularization (CR) have a more favorable prognosis than those who receive incomplete revascularization (IR), as evidenced by recent randomized controlled trials. Despite the absence of a survival benefit associated with CR in these trials, positive outcomes were ascribed to combined endpoints, such as repeat revascularization, myocardial infarction, or ischemia-driven rehospitalization. In light of the significant burden that rehospitalization from STEMI imposes on healthcare systems, we examined the long-term effects of CR on ischemia-driven rehospitalization and cardiovascular (CV) mortality in STEMI patients with MVD. Methods: In our retrospective study, we included patients with STEMI and MVD who underwent successful primary percutaneous coronary intervention (PCI) at the University Medical Centre Ljubljana between 1 January 2009, and 11 April 2011. The combined endpoint was ischemia-driven rehospitalization and CV mortality, with a minimum follow-up period of six years. Results: We included 235 participants who underwent CR (N = 70) or IR (N = 165) at index hospitalization, with a median follow-up time of 7 years (interquartile range 6.0–8.2). The primary endpoint was significantly higher in the IR group than in the CR group (47.3% vs. 32.9%, log-rank p = 0.025), driven by CV mortality (23.6% vs. 12.9%, log-rank p = 0.047), as there was no difference in ischemia-driven rehospitalization rate (log-rank p = 0.206). Ischemia-driven rehospitalization did not influence CV mortality in the CR group (p = 0.49), while it significantly impacted CV mortality in the IR group (p = 0.03). After adjusting for confounders, there were no differences in CV mortality between CR and IR groups (p = 0.622). Predictors of the combined endpoint included age (p = 0.014), diabetes (p = 0.006), chronic kidney disease (CKD) (p = 0.001), cardiogenic shock at presentation (p = 0.003), chronic total occlusion (CTO) (p = 0.046), and ischemia-driven rehospitalization (p = 0.0001). Significant risk factors for the combined endpoint were cardiogenic shock at presentation (p < 0.001), stage 4 kidney failure (p = 0.001), age over 70 years (p = 0.004), female gender (p = 0.008), and residual SYNTAX I score > 5.5 (p = 0.017). Conclusions: Patients with STEMI and MVD who underwent CR had a lower combined endpoint of ischemia-driven rehospitalizations and CV mortality than IR patients, but after adjustments for confounders, the true determinants of the combined endpoint and risk factors for the combined endpoint were independent of the revascularization method.
Ključne besede: ST-elevation myocardial infarction, cardiovascular mortality, complete percutaneous revascularization, ischemia-driven rehospitalization, multivessel coronary artery disease
Objavljeno v DiRROS: 13.03.2026; Ogledov: 145; Prenosov: 115
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3. Prognostic impact of interleukin-27 in peripheral artery diseaseNataša Kokalj, Borut Jug, 2025, izvirni znanstveni članek Povzetek: Atherosclerosis is a progressive arterial disease characterized by chronic inflammation, with interleukin-27 (IL-27) implicated as both a pro- and anti-inflammatory cytokine. This prospective cohort study evaluated association of circulating IL-27 levels in peripheral artery disease patients undergoing elective endovascular revascularization, with major adverse cardiovascular events (MACE) and major adverse limb events (MALE) over a median follow-up of 311 days. Elevated IL-27 levels were significantly associated with increased risk of MACE and MALE in unadjusted analyses. After adjusting for established cardiovascular and PAD risk factors, IL-27 remained an independent predictor of MACE (HR 2.95; p = 0.039), but not MALE. These findings indicate that elevated IL-27 levels are associated with unfavourable long-term prognosis.
Ključne besede: peripheral artery disease, interleukin-27, endovascular revascularization, major adverse cardiovascular events, major adverse limb events
Objavljeno v DiRROS: 06.03.2026; Ogledov: 182; Prenosov: 128
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4. Incidence of major adverse cardiovascular events in patients with rheumatoid arthritis treated with Janus kinase inhibitors compared to biologic disease-modifying antirheumatic drugs : data from an international collaboration of registries (the "JAK-pot" study)Romain Aymon, Denis Mongin, Romain Guemara, Zubeyir Salis, Johan Askling, Denis Choquette, Catalin Codreanu, Daniela Di Giuseppe, Irini Flouri, Doreen Huschek, Žiga Rotar, 2025, izvirni znanstveni članek Ključne besede: adverse cardiovascular events, rheumatoid arthritis, patients, Janus kinase inhibitors, biologic disease-modifying antirheumatic drugs, "JAK-pot" study
Objavljeno v DiRROS: 27.02.2026; Ogledov: 175; Prenosov: 125
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5. Defining patient-reported outcomes in diabetes, obesity, cardiovascular disease, and chronic kidney disease for clinical practice guidelines - perspectives of the taskforce of the Guideline WorkshopKatharine Barnard-Kelly, Tadej Battelino, Frank Brosius, Antonio Ceriello, Francesco Cosentino, 2025, drugi znanstveni članki Povzetek: Recent clinical practice guidelines for diabetes, obesity, cardiovascular disease (CVD) and chronic kidney disease (CKD) emphasise a holistic, person-centred approach to care. However, they do not include recommendations for the assessment of patient-reported outcomes (PROs), which would – dependent on the topic of guideline – be important for improving shared decision-making, patients’ concordance with guideline recommendations, clinical outcomes and health-related quality of life (HRQoL). The Taskforce of the Guideline Workshop discussed PROs in diabetes, obesity, CVD and CKD as well as the relevance of their inclusion in clinical practice guidelines for the management of these conditions.
Ključne besede: cardiovascular disease, chronic kidney disease, diabetes, obesity, person-reported outcomes
Objavljeno v DiRROS: 24.02.2026; Ogledov: 289; Prenosov: 130
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6. CVOT Summit Report 2024 : new cardiovascular, kidney, and metabolic outcomesOliver Schnell, Jaime Almandoz, Lisa Anderson, Katharine Barnard-Kelly, Tadej Battelino, Matthias Blüher, Luca Busetto, 2025, drugi znanstveni članki Povzetek: The 10th Cardiovascular Outcome Trial (CVOT) Summit: Congress on Cardiovascular, Kidney, and Metabolic Outcomes was held virtually on December 5–6, 2024. This year, discussions about cardiovascular (CV) and kidney outcome trials centered on the recent findings from studies involving empagliflozin (EMPACT-MI), semaglutide (STEP-HFpEF-DM and FLOW), tirzepatide (SURMOUNT-OSA and SUMMIT), and finerenone (FINEARTS-HF). These studies represent significant advances in reducing the risk of major adverse cardiovascular events (MACE) and improving metabolic outcomes in heart failure with preserved ejection fraction (HFpEF), chronic kidney disease (CKD), and obstructive sleep apnea (OSA). The congress also comprised sessions on novel and established therapies for managing HFpEF, CKD, and obesity; guidelines for managing CKD and metabolic dysfunction-associated steatotic liver disease (MASLD); organ crosstalk and the development of cardio-kidney-metabolic (CKM) syndrome; precision medicine and person-centered management of diabetes, obesity, cardiovascular disease (CVD) and CKD; early detection of type 1 diabetes (T1D) and strategies to delay its onset; continuous glucose monitoring (CGM) and automated insulin delivery (AID); cardiovascular autonomic neuropathy (CAN) and the diabetic heart; and the role of primary care in the early detection, prevention and management of CKM diseases. The contribution of environmental plastic pollution to CVD risk, the increasing understanding of the efficacy and safety of incretin therapies in the treatment of CKM diseases, and the latest updates on nutrition strategies for CKM management under incretin-based therapies were also topics of interest for a vast audience of endocrinologists, diabetologists, cardiologists, nephrologists and primary care physicians, who actively engaged in online discussions. The 11th CVOT Summit will be held virtually on November 20–21, 2025 (http://www.cvot.org).
Ključne besede: cardiovascular disease, chronic kidney disease, CGM, CKM, diabetes, finerenone, GLP-1 RA, guidelines, heart failure, MASLD, obesity, SGLT2 inhibitor, tirzepatide
Objavljeno v DiRROS: 24.02.2026; Ogledov: 290; Prenosov: 108
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7. Child-parent cascade screening for familial hypercholesterolemia in Slovenia : insights from the pilot programJaka Šikonja, Kaja Kobale, Jan Kafol, Barbara Čugalj Kern, Matej Mlinarič, Ana Drole Torkar, Jernej Kovač, Matija Cevc, Zlatko Fras, Tadej Battelino, Urh Grošelj, 2025, izvirni znanstveni članek Povzetek: Background and aims: Cascade familial hypercholesterolemia (FH) screening of parents could reduce the burden cardiovascular disease (CVD) in relatives of index cases by enabling timely diagnosis of FH. Here, we present the positive outcomes of the pilot child-parent cascade screening program in Slovenia. Methods: One hundred and thirty-eight parents from 123 families of an index child with genetically confirmed FH were randomly included in the pilot child-parent cascade screening program. Index children were identified through the universal FH screening program in preschool children. Genetic testing using Sanger sequencing was performed for cascade screening to detect (likely) pathogenic variants, previously confirmed in the index child. Results: The success rate of confirming a (likely) pathogenic variant was 77.2 % when the first parent, preferably with higher total cholesterol levels, was tested, and reached 99.1 % when the variant was identified in the first tested parent or when both parents were tested. In the minority of cases (13.8 %), parents had had a clinical diagnosis of FH prior to their child and these had somewhat higher prevalence of CVD compared to parents that were diagnosed after their index child through the pilot program (12.5 % vs. 4.3 %; p = 0.382). Conclusions: In conclusion, the presented pilot child–parent cascade screening program is feasible in clinical practice and shows a high success rate in identifying parents with FH. Parents diagnosed through the program appeared to have a lower prevalence of CVD. However, larger cohorts are needed to confirm these findings.
Ključne besede: child-parent screening, cascade screening, familial hypercholesterolemia, cardiovascular disease, Slovenia
Objavljeno v DiRROS: 16.12.2025; Ogledov: 374; Prenosov: 204
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8. Prevalence of familial hypercholesterolemia in Pakistan : a pooled analysis of 1.5 million individuals and comparison with other countries of the regionAmjad Nawaz, Madeeha Khan, Quratul Ain, Jaka Šikonja, Hijab Batool, Muhammad Qasim Hayat, Mohammad Iqbal Khan, Urh Grošelj, Fouzia Sadiq, 2025, izvirni znanstveni članek Povzetek: Background: Familial hypercholesterolemia (FH) is an inherited disorder that causes elevated LDL-C levels leading to premature cardiovascular disease but remains underdiagnosed. This study aims to determine the prevalence of FH in Pakistan using data from multiple laboratory networks and compare it with other counties of the region. Methods: The study analyzed lipid profile data from two large laboratory networks in Pakistan, applying Make Early Diagnosis to Prevent Early Death (MEDPED) LDL-C criteria for the general population to identify FH cases. A pooled prevalence estimate of prevalence of FH in Pakistan was calculated by combining the data of studies reporting prevalence in Pakistan. A systematic review was conducted to assess FH prevalence in South and Southeast Asian countries. Results: Analysis of 545,087 individuals (Median age 45 years, 58.2% males) identified 2,911 FH cases [0.55%, 95% confidence interval (CI): 0.53–0.57%), equivalent to a prevalence of 1:182. Pooled analysis with a previous Pakistani study, totaling 1,533,393 subjects, estimated the overall FH prevalence in Pakistan at 1:273 (95% CI: 0.21–0.64%). Prevalence decreased with age, being highest in the
Ključne besede: familial hypercholesterolemia, prevalence, cardiovascular disease, Pakistan, South Asia, Southeast Asia, screening
Objavljeno v DiRROS: 04.12.2025; Ogledov: 365; Prenosov: 210
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9. Gender disparity in lipid testing among over 0.5 million adults from Pakistan : females are tested much later despite higher LDL-cholesterol levelsAmjad Nawaz, Madeeha Khan, Quratul Ain, Muhammad Amjad, Jaka Šikonja, Hijab Batool, Mohammad Iqbal Khan, Urh Grošelj, Fouzia Sadiq, 2025, izvirni znanstveni članek Povzetek: Background and aims: Dyslipidemia is the major risk factor for atherosclerotic cardiovascular disease (ASCVD); therefore, its early diagnosis and treatment is necessary. While previous studies in Pakistan focused on general lipid profiles, investigations into gender disparities in lipid testing remain scarce. Therefore, the present study aims to explore the gender disparity in lipid testing and lipid levels among the adult Pakistani population. Methods: The lipid profile data was obtained from a tertiary care hospital and a diagnostic laboratory with centers across Pakistan. Dyslipidemia was defined based on the criteria provided by the National Cholesterol Education Program (NCEP) guidelines. Gender-based differences in lipid levels were analysed by copula decomposition, breaking down dyslipidemia differences into composition and structure effects. Results: A total of 577,489 adults were included in this study. The highest number of tests (n = 86,709, 14.6%) were conducted in individuals aged between 50 to 54 years. Greater number of males (n = 203,415, 64.3%) were tested before the age of 50 years compared to females (n = 113,030, 35.7%). Conversely, after the age of 50 years, number of tests increased notably among females (n = 137,541, 52.7%) compared to males (n = 123,503, 47.3%; p < 0.001). For all comparisons, significant differences were observed for low density lipoprotein cholesterol (LDL-C), triglycerides (TG), and high-density lipoprotein cholesterol (HDL-C) levels between males and females (p < 0.001), where average levels of LDL-C, TC and HDL-C were higher in females while average TG levels were higher in males. Conclusion: This study highlights the gender disparity in lipid testing in Pakistan, where females undergo lipid testing later in life, despite higher lipid levels compared to males.
Ključne besede: cardiovascular disease, dyslipidemia, gender disparity, lipid testing, opportunistic testing, Pakistan
Objavljeno v DiRROS: 03.12.2025; Ogledov: 854; Prenosov: 213
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10. Effects of oils and solid fats on blood lipids : a systematic review and network meta-analysisLukas Schwingshackl, Berit Bogensberger, Aleksander Benčič, Sven Knüppel, Heiner Boeing, Georg Hofmann, 2018, izvirni znanstveni članek Povzetek: The aim of this network meta-analysis (NMA) is to compare the effects of different oils/solid fats on blood lipids. Literature searches were performed until March 2018. Inclusion criteria were as follows: i) randomized trial (≥3 weeks study length) comparing at least two of the following oils/solid fats: safflower, sunflower, rapeseed, hempseed, flaxseed, corn, olive, soybean, palm, and coconut oil, and lard, beef-fat, and butter; ii) outcomes LDL-cholesterol (LDL-C), total cholesterol (TC), HDL-cholesterol (HDL-C), and triacylglycerols (TGs). A random dose-response (per 10% isocaloric exchange) NMA was performed and surface under the cumulative ranking curve (SUCRA) was estimated. Fifty-four trials were included in the NMA. Safflower oil had the highest SUCRA value for LDL-C (82%) and TC (90%), followed by rapeseed oil (76% for LDL-C, 85% for TC); whereas, palm oil (74%) had the highest SUCRA value for TG, and coconut oil (88%) for HDL-C. Safflower, sunflower, rapeseed, flaxseed, corn, olive, soybean, palm, and coconut oil as well beef fat were more effective in reducing LDL-C (−0.42 to −0.23 mmol/l) as compared with butter. Despite limitations in these data, our NMA findings are in line with existing evidence on the metabolic effects of fat and support current recommendations to replace high saturated-fat food with unsaturated oils.
Ključne besede: cardiovascular disease, evidence synthesis, fatty acids
Objavljeno v DiRROS: 24.07.2024; Ogledov: 1616; Prenosov: 706
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