31. Composite landslide in the dynamic alpine conditions: a case study of Urbas landslideEla Šegina, Mateja Jemec Auflič, Matija Zupan, Jernej Jež, Tina Peternel, 2022, original scientific article Abstract: The alpine environment is characterized by complex geology, high-energy terrain, deeply incised river valleys with high erosional potential, extreme weather conditions and dynamic geomorphic processes. Such settings provide favourable conditions for the formation of composite landslides rather than individual slope mass movement phenomena. As an example, we present the kinematics of the composite landslide Urbas in the North of Slovenia which developed in the complex geological and morphological settings characteristic of the alpine environment. The research combines several monitoring techniques and involves the integration of both surface and subsurface displacements measured in the landslide area. The results indicate that the composite sliding process consists of several simultaneous and interrelated types of movements occurring in different segments of the unstable mass that are governed by different mechanisms of displacements, such as rockfall, sliding and debris flow. The kinematic characteristics of a deep-seated landslide that formed in such conditions vary spatially, but is rather homogenuous vertically, indicating translational type of movement. Spatial kinematic heterogeneity is primarily related to the diverse terrain topography, reflecting in different displacement trends. Based on the revealed kinematic proprieties of the sliding material, the sediment discharge illustrates the sliding material balance which estimates the volume of the retaining material that represents the potential for slope mass movement events of larger scales. Keywords: composite landslide, alpine conditions, kinematics, monitoring, sediment discharge Published in DiRROS: 15.12.2022; Views: 629; Downloads: 176 Full text (8,00 MB) |
32. Correlating structural properties with electrochemical behavior of non-graphitizable carbons in Na-ion batteriesBlaž Tratnik, Nigel Willy Van de Velde, Ivan Jerman, Gregor Kapun, Elena Tchernychova, Matija Tomšič, Andrej Jamnik, Boštjan Genorio, Alen Vižintin, Robert Dominko, 2022, original scientific article Published in DiRROS: 02.11.2022; Views: 662; Downloads: 356 Full text (7,28 MB) This document has many files! More... |
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35. Estimating quantitative physiological and morphological tissue parameters of murine tumor models using hyperspectral imaging and optical profilometryTadej Tomanič, Luka Rogelj, Jošt Stergar, Boštjan Markelc, Tim Božič, Simona Kranjc Brezar, Gregor Serša, Matija Milanič, 2022, original scientific article Abstract: Understanding tumors and their micro-environment are essential for successfuland accurate disease diagnosis. Tissuephysiology and morphology are altered intumors compared to healthy tissues, andthere is a need to monitor tumors and their surrounding tissues, includingblood vessels, non-invasively. This preliminary study utilizes a multimodaloptical imaging system combining hyperspectral imaging (HSI) and three-dimensional (3D) optical profilometry (OP) to capture hyperspectral imagesand surface shapes of subcutaneously grown murine tumor models. Hyper-spectral images are corrected with 3D OP data and analyzed using the inverse-adding doubling (IAD) method to extract tissue properties such as melaninvolume fraction and oxygenation. Blood vessels are segmented using theB-COSFIRE algorithm from oxygenation maps. From 3D OP data, tumor vol-umes are calculated and compared to manual measurements using a verniercaliper. Results show that tumors can be distinguished from healthy tissuebased on most extracted tissue parameters (p<0:05). Furthermore, blood oxy-genation is 50% higher within the blood vessels than in the surrounding tissue,and tumor volumes calculated using 3D OP agree within 26% with manualmeasurements using a vernier caliper. Results suggest that combining HSI andOP could provide relevant quantitative information about tumors and improvethe disease diagnosis. Keywords: medical physics, hyperspectral imaging, diffuse reflectance spectroscopy, blood vessels, tumors Published in DiRROS: 08.09.2022; Views: 549; Downloads: 191 Full text (3,79 MB) |
36. Solid cancer patients achieve adequate immunogenicity and low rate of severe adverse events after SARS-CoV-2 vaccinationUrška Janžič, Urška Bidovec, Katja Mohorčič, Loredana Mrak, Nina Fokter Dovnik, Marija Ivanović, Maja Ravnik, Marina Čakš, Erik Škof, Jerneja Debeljak, Peter Korošec, Matija Rijavec, 2022, original scientific article Abstract: Background: SARS-CoV-2 vaccination in cancer patients is crucial to prevent severe COVID-19 disease course. Methods: This study assessed immunogenicity of cancer patients on active treatment receiving mRNA-based SARS-CoV-2 vaccine by detection of anti-SARS-CoV-2 S1 IgG antibodies in serum, before, after the first and second doses and 3 months after a complete primary course of vaccination. Results were compared with healthy controls. Results: Of 112 patients, the seroconversion rate was 96%. A significant reduction in antibody levels was observed 3 months after vaccination in patients receiving immune checkpoint inhibitors versus control participants (p < 0.001). Adverse events were mostly mild. Conclusion: Immunogenicity after mRNA-based vaccine in cancer patients is adequate but influenced by the type of anticancer therapy. Antibody levels decline after 3 months, and thus a third vaccination is warranted. Keywords: onkološko zdravljenje, imunogenost, osnovno cepljenje mRNA, čvrsti tumorji, anticancer treatment, immunogenicity, mRNA-based vaccination, solid cancer Published in DiRROS: 24.06.2022; Views: 808; Downloads: 334 Full text (2,03 MB) |
37. SERPING1 variants and C1-INH biological function : a close relationship with C1-INH-HAEChristian Drouet, Alberto López Lera, Arije Ghannam, Margarita López-Trascasa, Sven Cichon, Denise Ponard, Faidra Parsopoulou, Hana Grombirikova, Tomas Freiberger, Matija Rijavec, Camila Lopes Veronez, João Bosco Pesquero, Anastasios E. Germenis, 2022, review article Abstract: Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a constellation of variants of the SERPING1 gene (n = 809; 1,494 pedigrees), accounting for 86.8% of HAE families, showing a pronounced mutagenic liability of SERPING1 and pertaining to 5.6% de novo variants. C1-INH is the major control serpin of the kallikrein–kinin system (KKS). In addition, C1-INH controls complement C1 and plasminogen activation, both systems contributing to inflammation. Recognizing the failed control of C1s protease or KKS provides the diagnosis of C1-INH-HAE. SERPING1 variants usually behave in an autosomal-dominant character with an incomplete penetrance and a low prevalence. A great majority of variants (809/893; 90.5%) that were introduced into online database have been considered as pathogenic/likely pathogenic. Haploinsufficiency is a common feature in C1-INH-HAE where a dominant-negative variant product impacts the wild-type allele and renders it inactive. Small (36.2%) and large (8.3%) deletions/duplications are common, with exon 4 as the most affected one. Point substitutions with missense variants (32.2%) are of interest for the serpin structure–function relationship. Canonical splice sites can be affected by variants within introns and exons also (14.3%). For noncanonical sequences, exon skipping has been confirmed by splicing analyses of patients' blood-derived RNAs (n = 25). Exonic variants (n = 6) can affect exon splicing. Rare deep-intron variants (n = 6), putatively acting as pseudo-exon activating mutations, have been characterized as pathogenic. Some variants have been characterized as benign/likely benign/of uncertain significance (n = 74). This category includes some homozygous (n = 10) or compound heterozygous variants (n = 11). They are presenting with minor allele frequency (MAF) below 0.00002 (i.e., lower than C1-INH-HAE frequency), and may be quantitatively unable to cause haploinsufficiency. Rare benign variants could contribute as disease modifiers. Gonadal mosaicism in C1-INH-HAE is rare and must be distinguished from a de novo variant. Situations with paternal or maternal disomy have been recorded (n = 3). Genotypes must be interpreted with biological investigation fitting with C1-INH expression and typing. Any SERPING1 variant reminiscent of the dysfunctional phenotype of serpin with multimerization or latency should be identified as serpinopathy. Keywords: Hereditary angioedemas -- genetics -- diagnosis, genetic variation, serpins, SERPING1 gene, C1-INH, C1-INH-HAE, C1 inhibitor, serpinopathy Published in DiRROS: 06.04.2022; Views: 863; Downloads: 523 Full text (2,51 MB) This document has many files! More... |
38. Utility of telomerase gene mutation testing in patients with idiopathic pulmonary fibrosis in routine practiceJulij Šelb, Katarina Osolnik, Izidor Kern, Peter Korošec, Matija Rijavec, 2022, original scientific article Abstract: Recent studies have suggested that causative variants in telomerase complex genes (TCGs) are present in around 10% of individuals with idiopathic pulmonary fibrosis (IPF) regardless of family history of the disease. However, the studies used a case-control rare variant enrichment study design which is not directly translatable to routine practice. To validate the prevalence results and to establish the individual level, routine clinical practice, and utility of those results we performed next generation sequencing of TCGs on a cohort of well-characterized consecutive individuals with IPF (diagnosis established according to ATS/ERS/JRS/ALAT guidelines). Of 27 IPF patients, three had a family history of idiopathic interstitial pneumonia (familial IPF) and 24 did not (sporadic IPF). Pathogenic/likely-pathogenic variants (according to American College of Medical Genetics criteria) in TCG were found in three individuals (11.1%) of the whole cohort; specifically, they were present in 2 out of 24 (8.3%) of the sporadic and in 1 out of 3 (33.3%) of the patients with familial IPF. Our results, which were established on an individual-patient level study design and in routine clinical practice (as opposed to the case-control study design), are roughly in line with the around 10% prevalence of causative TCG variants in patients with IPF. Keywords: telomerase, idiopathic pulmonary fibrosis, genetic variation, telomerase complex Published in DiRROS: 07.02.2022; Views: 805; Downloads: 370 Full text (236,11 KB) |
39. Heterogeneous response of airway eosinophilia to anti-IL-5 biologics in severe asthma patientsMaruša Kopač, Matija Rijavec, Peter Korošec, Urška Bidovec, Izidor Kern, Romana Vantur, Sabina Škrgat, 2022, original scientific article Abstract: Many questions concerning responders (R) and nonresponders (NR) in severe eosinophilic asthma (SEA) after blocking the IL-5 (interleukin 5) pathway are still not clear, especially regarding the early parameters of response to biologics in personalized treatment strategies. We evaluated 17 SEA patients treated with anti-IL-5 biologics (16 patients mepolizumab, one patient benralizumab) before the introduction of biologics, and at a week 16 follow-up. Clinical, cellular and immunological parameters in peripheral blood were measured in R and NR. Sputum induction with the measurement of cellular and immunological parameters was performed at 16 weeks only. There were 12 R and 5 NR to biologics. After 16 weeks, there was a significant improvement in percentages of FEV1 (p = 0.001), and asthma control test (ACT) (p = 0.001) in the R group, but not in NR. After 16 weeks, the eosinophils in induced sputum were 27.0% in NR and 4.5% in R (p = 0.05), with no difference in IL-5 concentrations (p = 0.743). Peripheral eosinophilia decreased significantly in NR (p = 0.032) and R (p = 0.002). In patients with SEA on anti-IL-5 therapy, there was a marked difference in airway eosinophilic inflammation between R and NR already at 16 weeks, after anti-IL-5 introduction. Published in DiRROS: 13.01.2022; Views: 965; Downloads: 553 Full text (805,99 KB) This document has many files! More... |
40. Paradigma : zbornik LDŠNeja Berger, Lucija Ivanuša, Dora Kavčič, Ula Kranjc Kušlan, Marko Miočić, Natali Panič Nardin, Luka Stegne, Sara Svati Sharan, Tjaša Škorjanc, 2021, professional monograph Keywords: univerzitetni študij, študentska problematika, humanistični moment, kritična obravnava Published in DiRROS: 29.09.2021; Views: 839; Downloads: 172 Link to file |