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Objavljeno v DiRROS: 11.11.2025; Ogledov: 114; Prenosov: 61
Celotno besedilo (505,87 KB)
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Objavljeno v DiRROS: 11.11.2025; Ogledov: 155; Prenosov: 71
Celotno besedilo (7,28 MB)
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Povzetek: Background: Timely and economic provision of revascularisation procedures is a major healthcare need. We aimed to examine the safety and efficacy of daycase-based lower extremity endovascular revascularisation procedures in patients with peripheral artery disease. Methods: In this systematic review and meta-analysis, we searched MEDLINE and Embase for studies from Jan 01, 2000 through Apr 01, 2024 reporting complications of lower limb endovascular revascularisation procedures with same-day discharge. Eligibility-criteria, complications, and patient characteristics were extracted, methodological quality assessed (adapted Newcastle–Ottawa Scale), and meta-analyses of complications and technical success performed to provide pooled estimates. This study is registered with PROSPERO, CRD42022316466. Findings: Thirty observational studies (17 retrospective, 13 prospective) and 1 RCT reported 2427 minor and 653 major complications after 99,600 daycase procedures (93,344 patients). Eighteen studies reported daycase eligibility-criteria including ‘responsible adult companion’ (78%), ‘proximity to hospital’, and ‘telephone availability’ and excluding unstable and severe co-morbidities, offset coagulation, and severe chronic kidney disease. Pooled incidences of minor (4.7% [95% CI 3.8–5.6%], I 2 = 96%) and major (0.64% [95% CI 0.48–0.79%], I 2 = 46%) complications were low and technical success high (93% [95% CI 91–96%], I 2 = 97%). Most complications were related to the puncture site. Pooled conversion-to-hospitalisation rates and re-admission after discharge were 1.6% (95% CI 1.1–2.2%, I 2 = 82%) and 0.11% (95% CI 0.095–0.23%, I 2 = 97%), respectively. Meta-regression identified that minor complications decreased since 2000. Male sex and coronary artery disease were associated with more frequent, and higher age and closure device use with less minor complications. Diabetes mellitus and chronic kidney disease were associated with less major complications. Six studies reported complication rates both in daycases and inpatients and there was no significant difference (−0.8% [95% CI −1.9 to 0.3%]). Interpretation: After careful evaluation of eligibility, lower limb angioplasty can be performed safely with high technical success in a daycase setting. Most complications arise from the puncture site and not the procedure itself highlighting the importance of optimal access site management. The heterogeneity between studies warrants standardised monitoring of complications and outcomes.
Ključne besede: daycase angioplasty, chronic limb-threatening ischaemia, peripheral artery disease, endovascular, technical success
Objavljeno v DiRROS: 10.11.2025; Ogledov: 151; Prenosov: 65
Celotno besedilo (1,91 MB)
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Povzetek: Background: The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant MT-CYB:m.15309T>C (Ile188Thr). Methods: We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up. Complete ophthalmological exam, electrophysiology and optical coherence tomography (OCT) segmentation were performed. The genotype analysis was performed with a complete screening of the mitochondrial genome. Furthermore, proteomic analysis of the protein structure and function was performed to assess the pathogenicity of a novel variant of unknown significance. Mitochondrial function analysis of the patient’s peripheral blood mononuclear cells (PBMCs) was performed with the objective of evaluating the mutation effect on mitochondrial function using flow cytometry and high-resolution respirometry. Results: The patient had a profound consecutive bilateral visual loss at 19 years of age due to optic neuropathy with characteristics of LHON; however, unlike patients with typical LHON, the patient experienced a fluctuation in visual function and significant late recovery. He had a total of three visual acuity deteriorations and improvements in the left eye, with concomitant visual loss in the right eye and a final visual acuity drop reaching nadir 9 months after onset. The visual loss was characterized by centrocecal scotoma, abnormal color vision and abnormal VEP, while deterioration of PERG N95 followed with a lag of several months. The OCT examination showed retinal nerve fiber layer thinning matching disease progression. Following a two-year period of legal blindness, the patient’s visual function started to improve, and over the course of 5 years, it reached 0.5 and 0.7 Snellen (0.3 and 0.15 LogMAR) visual acuity (VA). Mitochondrial sequencing identified a presumably pathogenic variant m.15309T>C in the MT-CYB gene at 65% heteroplasmy, belonging to haplogroup K. Mitochondrial function assessment of the patient’s PBMCs showed a lower respiration rate, an increase in reactive oxygen species production and the presence of mitochondrial depolarization, compared to an age- and sex-matched healthy control’s PBMCs. Conclusions: A novel variant in the MT-CYB:m.15309T>C (Ile188Thr) gene was identified in a patient with optic nerve damage and the LHON phenotype without any additional systemic features and atypical presentation of the disease with late onset of visual function recovery. The pathogenicity of the variant is supported by proteomic analysis and the mitochondrial dysfunction observed in the patient’s PBMCs.
Ključne besede: LHON, gene, electrophysiology, retinal segmentation, VA improvement, mitochondrial disfunction, proteomic analysis
Objavljeno v DiRROS: 10.11.2025; Ogledov: 169; Prenosov: 76
Celotno besedilo (3,70 MB)
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Povzetek: Introduction: Skeletal dysplasia (SD) is a large and heterogeneous group of rare genetic disorders that affects bone and cartilage growth. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. However, the diagnostics is challenging due to clinical and genetic heterogeneity. We present the experience of systematic use of comprehensive genetic testing in the national health system and the molecular epidemiology of SD in Slovenia. Methods: We retrospectively reviewed 470 patients with clinical features of SD, including prenatal, childhood, and adult patients referred for diagnostic genetic evaluation to the national genetic reference center over ten years. In 262 patients, whole exome or whole genome sequencing was performed, while direct gene sequencing was performed in 208 patients with a specific clinical diagnosis. Results: A definitive genetic diagnosis using NGS was achieved in 50% (n=131) of patients. Among the positive cases, 49.61% initially presented with a nonspecific diagnosis of SD, and genetic testing contributed to establishing the diagnosis. Moreover, we demonstrated high genetic heterogeneity in our SD cohort with 66 distinct causative genes, resulting in different types of SD. In detail, we detected 132 causative variants, of which 29 were novel, which expanded the mutational spectrum of SD. Furthermore, pathogenic copy number variants (CNVs) were identified in 4.55% of the total number of variants, highlighting the importance of CNV analysis in expanding the yield of molecular diagnosis of SD. Conclusion: With the systematic use of WES and WGS, we have significantly improved the diagnostic yield of SD in the national health system and access to genetic testing. Moreover, we found significant genetic heterogeneity, and we report the genetic epidemiology of SD in the Slovenian population.
Ključne besede: CNV, copy number variants, NGS, next-generation sequencing, diagnostic yield, molecular pathology, prenatal diagnosis, rare genetic diseases, skeletal dysplasia
Objavljeno v DiRROS: 10.11.2025; Ogledov: 178; Prenosov: 88
Celotno besedilo (1,11 MB)
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