51. Important and specific role for basophils in acute allergic reactionsPeter Korošec, Bernhard F. Gibbs, Matija Rijavec, Adnan Custovic, Paul J. Turner, 2018, pregledni znanstveni članek Povzetek: IgE-mediated allergic reactions involve the activation of effector cells, predominantly through the high-affinity IgE receptor (FceRI) on mast cells and basophils. Although the mast cell is considered the major effector cell during acute allergic reactions, more recent studies indicate a potentially important and specific role for basophils and their migration which occurs rapidly upon allergen challenge in humans undergoing anaphylaxis. We review the evidence for a role of basophils in contributing to clinical symptoms of anaphylaxis, and discuss the possibility that basophil trafficking during anaphylaxis might be a pathogenic (to target organs) or protective (preventing degranulation in circulation) response. Finally, we examine the potential role of basophils in asthma exacerbations. Understanding the factors that regulate basophil trafficking and activation might lead to new diagnostic and therapeutic strategies in anaphylaxis and asthma.
Ključne besede: allergy and immunology, basophils, anaphylaxis
Objavljeno v DiRROS: 14.12.2020; Ogledov: 1245; Prenosov: 811
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52. Hereditary angioedema due to C1-inhibitor deficiency in Macedonia : clinical characteristics, novel SERPING1 mutations, and genetic factors modifying the clinical phenotypeVesna Grivčeva-Panovska, Mitja Košnik, Peter Korošec, Slađana Andrejević, Ljerka Karadža-Lapić, Matija Rijavec, 2018, izvirni znanstveni članek Povzetek: Objective: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare disease, characterized by swellings. We aimed to characterize on a clinical and molecular basis C1-INH-HAE patients in the Republic of Macedonia. Results: All 15 patients from six unrelated families were diagnosed with C1-INHHAE type I, with a mean age of symptom onset of 11 years and an average delay of diagnosis of 7 years. Patients reported on average 31 angioedema attacks/year, with a median clinical severity score (CSS) of 7. We identified three known mutations, and two mutations (c.813_818delCAACAA and c.1488T>G) were reported for the first time. To address the genotype-phenotype association, a pooled analysis including 78 C1-INH-HAE south-eastern European patients was performed, with additional analysis of F12-46C/T and KLKB1- 428G/A polymorphisms. We demonstrated that patients with nonsense and frameshift mutations, large deletions/insertions, splicing defects, and mutations at Arg444 exhibited an increased CSS compared with missense mutations, excluding mutations at Arg444. In addition, the CC F12-46C/T polymorphism was suggestive of earlier disease onset. Discussion: Genetic analysis helped identify the molecular basis of C1-INH-HAE given that causative mutations in SERPING1 were detected in all patients, including an infant before the appearance of clinical symptoms. We identified two novel mutations and further corroborated the genotype-phenotype relationship, wherein mutations with a clear effect on C1-INH function predispose patients to a more severe disease phenotype and CC F12-46C/T predisposes patients to earlier disease onset.
Ključne besede: hereditary angioedemas -- genetics -- Macedonia, C1 inhibitor, SERPING1 gene, C1 inhibitor, SERPING1 gene
Objavljeno v DiRROS: 30.11.2020; Ogledov: 1268; Prenosov: 280
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53. Atomically resolved anisotropic electrochemical shaping of nano-electrocatalystFrancisco Ruiz-Zepeda, Matija Gatalo, Andraž Pavlišič, Goran Dražić, Primož Jovanovič, Marjan Bele, Miran Gaberšček, Nejc Hodnik, 2019, izvirni znanstveni članek Ključne besede: electrocatalysis, dealloying, fuel cells, identical location TEM, kinetic Monte Carlo
Objavljeno v DiRROS: 23.11.2020; Ogledov: 1424; Prenosov: 1033
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54. Comparison of Pt-Cu/C with benchmark Pt-Co/C : metal dissolution and their surface interactionsMatija Gatalo, Primož Jovanovič, Urša Petek, Martin Šala, Vid Simon Šelih, Francisco Ruiz-Zepeda, Marjan Bele, Nejc Hodnik, Miran Gaberšček, 2019, izvirni znanstveni članek Ključne besede: oxygen reduction reaction, proton exchange membrane fuel cell, platinum alloy, metal dissolution, electrochemical flow cell coupled to inductively coupled plasma mass spectrometer
Objavljeno v DiRROS: 23.11.2020; Ogledov: 1447; Prenosov: 1085
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55. Tuberculosis among patients treated with TNF inhibitors for rheumatoid arthritis, ankylosing spondylitis and psoriatic arthritis in slovenia : a cohort studyŽiga Rotar, Petra Svetina, Matija Tomšič, Alojzija Hočevar, Sonja Praprotnik, 2020, izvirni znanstveni članek Povzetek: Objectives: This study aimed to assess the risk of tuberculosis (TB) in patients with rheumatoid arthritis (RA), ankylosing spondylitis (AS) and psoriatic arthritis (PsA) treated with any of the commercially available tumour necrosis factor inhibitors (TNFis) in Slovenia. Design: This is a cohort, registry (biorx.si) cross-linked with the Slovenian National TB Registry. Setting: National, involving all Slovenian rheumatology centres (six secondary and two secondary/tertiary). Participants: 2429 patients with RA, AS or PsA exposed to at least one TNFi participated in the study. Primary and secondary outcome measures: The primary outcome measures were age-adjusted and sex-adjusted TB incidence rates (IRs) and the standardised incidence ratios (SIRs) compared with the general population exploring different TNFi exposure windows. The secondary outcome measures were a detailed characterisation of the national latent tuberculosis infection (LTBI) screening and TB chemoprophylaxis protocol implementation. Results: Among the 2429 patients exposed to at least one TNFi for a total of 10 445 (49% RA, 33% AS and 18% PsA) person-years (PY), 99% completed LTBI screening and 6% required TB chemoprophylaxis. Six RA (three adalimumab, three certolizumab), two PsA (two golimumab) and zero AS patients developed TB. Five out of eight had miliary TB, three out of eight had pulmonary TB and two patients died. The age-standardised and sex-standardised TB IR (95% CI) per 100 000 PYs/SIRs (95% CI) compared with the general Slovenian population for the current TNFi exposure were 52 (0 to 110)/6.7 (0.6 to 80), 47 (0 to 110)/6.1 (0.3 to 105), 45 (0 to 109)/5.8 (0.3 to 112) overall, in RA and PsA, respectively. Conclusions: The TB IR in the Slovenian patients with RA, AS and PsA treated with TNFi was comparable with TB IRs in TB non-endemic countries with less than a tenth of the patients requiring TB chemoprophylaxis.
Ključne besede: epidemiology, rheumatology, tuberculosis
Objavljeno v DiRROS: 12.11.2020; Ogledov: 1175; Prenosov: 568
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56. CD3+CD4-CD8- mucosal T cells are associated with uncontrolled chronic rhinosinusitis with nasal polypsTanja Soklič, Mira Šilar, Matija Rijavec, Ana Koren, Izidor Kern, Irena Hočevar-Boltežar, Peter Korošec, 2019, kratki znanstveni prispevek Povzetek: Increased mucosal double-negative (DN) CD3+CD4-CD8- T cells were found for the first time in CRS and were much more abundant in uncontrolled CRSwNP than in well-controlled CRSwNP.
Ključne besede: chronic rhinosinusitis, CD3+ T-cells, CD4- T-cells, CD8- T-cells
Objavljeno v DiRROS: 22.10.2020; Ogledov: 1567; Prenosov: 504
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57. The effect of harvesting on national forest carbon sinks up to 2050 simulated by the CBM-CFS3 model : a case study from SloveniaJernej Jevšenak, Matija Klopčič, Boštjan Mali, 2020, izvirni znanstveni članek Ključne besede: carbon, forest reference levels, forest management, harvesting scenarios, yield curves, UNFCCC, prirastne krivulje, UNFCCC
Objavljeno v DiRROS: 19.10.2020; Ogledov: 1268; Prenosov: 897
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58. Transcription factors gene expression in chronic rhinosinusitis with and without nasal polypsTanja Soklič, Matija Rijavec, Mira Šilar, Ana Koren, Izidor Kern, Irena Hočevar-Boltežar, Peter Korošec, 2019, izvirni znanstveni članek Povzetek: Background. Chronic rhinosinusitis (CRS) current therapeutic approaches still fail in some patients with severe persistent symptoms and recurrences after surgery. We aimed to evaluate the master transcription factors gene expression levels of T cell subtypes in chronic rhinosinusitis with nasal polyps (CRSwNP) and chronic rhinosinusitis without nasal polyps (CRSsNP) that could represent new, up-stream targets for topical DNAzyme treatment. Patients and methods. Twenty-two newly diagnosed CRS patients (14 CRSwNP and 8 CRSsNP) were prospectively biopsied and examined histopathologically. Gene expression levels of T-box transcription factor (T-bet, TBX21), GATA binding protein 3 (GATA3), Retinoic acid-related orphan receptor C (RORC) and Forkhead box P3 (FOXP3) were analyzed by real-time quantitative polymerase chain reaction (RT-qPCR). Results. Eosinophilic CRSwNP was characterized by higher level of GATA3 gene expression compared to noneosinophilic CRSwNP, whereas there was no difference in T-bet, RORC and FOXP3 between eosinophilic and noneosinophilic CRSwNP. In CRSsNP, we found simultaneous upregulation of T-bet, GATA3 and RORC gene expression levels in comparison to CRSwNP; meanwhile, there was no difference in FOXP3 gene expression between CRSwNP and CRSsNP. Conclusions. In eosinophilic CRSwNP, we confirmed the type 2 inflammation by elevated GATA3 gene expression level. In CRSsNP, we unexpectedly found simultaneous upregulation of T-bet and GATA3 that is currently unexplained; however, it might originate from activated CD8+ cells, abundant in nasal mucosa of CRSsNP patients. The elevated RORC in CRSsNP could be part of homeostatic nasal immune response that might be better preserved in CRSsNP patients compared to CRSwNP patients. Further data on transcription factors expression rates in CRS phenotypes are needed.
Ključne besede: sinusitis, nasal polyps, Th1 cells, Th2 cells, Th17 cells, transcription factors, chronic rhinosinusitis
Objavljeno v DiRROS: 09.10.2020; Ogledov: 1482; Prenosov: 819
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59. Heritable risk for severe anaphylaxis associated with increased [alpha]-tryptase-encoding germline copy number at TPSAB1Jonathan J. Lyons, Jack Chovanec, Michael P. O'Connell, Yihui Liu, Julij Šelb, Roberta Zanotti, Yun Bai, Jiwon Kim, Quang T. Le, Tom DiMaggio, Matija Rijavec, Peter Korošec, 2020, izvirni znanstveni članek Povzetek: Background: An elevated basal serum tryptase level is associated with severe systemic anaphylaxis, most notably caused by Hymenoptera envenomation. Although clonal mast cell disease is the culprit in some individuals, it does not fully explain this clinical association. Objective: Our aim was to determine the prevalence and associated impact of tryptase genotypes on anaphylaxis in humans. Methods: Cohorts with systemic mastocytosis (SM) and venom as well as idiopathic anaphylaxis from referral centers in Italy, Slovenia, and the United States, underwent tryptase genotyping by droplet digital PCR. Associated anaphylaxis severity (Mueller scale) was subsequently examined. Healthy volunteers and controls with nonatopic disease were recruited and tryptase was genotyped by droplet digital PCR and in silico analysis of genome sequence, respectively. The effects of pooled and recombinant human tryptases, protease activated receptor 2 agonist and antagonist peptides, and a tryptase-neutralizing mAb on human umbilical vein endothelial cell permeability were assayed using a Transwell system. Results: Hereditary [alpha]-tryptasemia (H[alpha]T)--a genetic trait caused by increased [alpha]-tryptase-encoding Tryptase-[alpha]/[beta]1 (TPSAB1) copy number resulting in elevated BST level--was common in healthy individuals (5.6% [n = 7 of 125]) and controls with nonatopic disease (5.3% [n = 21 of 398]). H[alpha]T was associated with grade IV venom anaphylaxis (relative risk = 2.0; P < .05) and more prevalent in both idiopathic anaphylaxis (n = 8 of 47; [17%; P = .006]) and SM (n = 10 of 82 [12.2%; P = .03]) relative to the controls. Among patients with SM, concomitant H[alpha]T was associated with increased risk for systemic anaphylaxis (relative risk = 9.5; P = .007). In vitro, protease-activated receptor-2-dependent vascular permeability was induced by pooled mature tryptases but not [alpha]- or [beta]-tryptase homotetramers. Conclusions: Risk for severe anaphylaxis in humans is associated with inherited differences in [alpha]-tryptase-encoding copies at TPSAB1.
Ključne besede: mastocytosis, venoms, hypersensitivity, anaphylaxis - diagnosis, mast cells, idiopathic anaphylaxis, mast cell activation, hereditary alpha-tryptasemia
Objavljeno v DiRROS: 11.09.2020; Ogledov: 2007; Prenosov: 371
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60. Poškodbe drevja zaradi abiotskih naravnih motenj na bukovih rastiščih v Sloveniji s poudarkom na snegolomihBlanka Klinar, Matija Klopčič, Andrej Bončina, 2020, izvirni znanstveni članek Povzetek: Raziskovali smo poškodovanost drevja zaradi snega v pretežno mešanih gozdnih sestojih na bukovih rastiščih v Sloveniji. V analizo smo vključili 22.609 oddelkov s prevladujočimi bukovimi rastišči, v katerih je bil delež bukve vsaj 10 % lesne zaloge sestojev. Delež iglavcev v sanitarnem poseku je bil večji pri snegolomih in vetrolomih, pri žledolomih sta bila deleža listavcev in iglavcev skoraj enaka. V bukovih gozdovih je zaradi snega najbolj poškodovano drevje v mlajših in srednjedobnih razvojnih fazah debelin 20%40 cm. Na podvzorcu 363 oddelkov, za katere smo pridobili podatke o lastnostih snežne odeje, smo z binarno logistično regresijo izdelali model verjetnosti pojava snegoloma. V model smo vključili spremenljivke količine snega v spomladanskih mesecih, fitoregijo, skalnatost, naklon terena in matično podlago. Najpomembnejša spremenljivka je bila količina snega v spomladanskih mesecih. Razlog za relativno visok sanitarni posek v bukovih gozdovih je povečan delež smreke v gozdnih sestojih, bukev je veliko manj dovzetna za poškodbe zaradi snega kot smreka. Za povečanje odpornosti sestojev predlagamo pogostejša klasična redčenja nižjih jakosti ali uvedbo situacijskih redčenj v sestojih mlajših in srednjedobnih sestojih.
Ključne besede: Fagus sylvatica, bukova rastišča, binarna logistična regresija, pojav poškodbe, snegolomi, naravne motnje, gozdovi
Objavljeno v DiRROS: 09.09.2020; Ogledov: 5233; Prenosov: 1612
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