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62. Functional complement analysis can predict genetic testing results and long-term outcome in patients with complement deficienciesŠtefan Blazina, Maruša Debeljak, Mitja Košnik, Saša Simčič, Sanja Stopinšek, Gašper Markelj, Nataša Toplak, Peter Kopač, Breda Zakotnik, Marko Pokorn, Tadej Avčin, 2018, original scientific article Abstract: Background: Prevalence of complement deficiencies (CDs) is markedly higher in Slovenian primary immunodeficiency (PID) registry in comparison to other national and international PID registries.
Objective: The purposes of our study were to confirm CD and define complete and partial CD in registered patients in Slovenia, to evaluate frequency of clinical manifestations, and to assess the risk for characteristic infections separately for subjects with complete and partial CD.
Methods: CD was confirmed with genetic analyses in patients with C2 deficiency, C8 deficiency, and hereditary angioedema or with repeated functional complement studies and measurement of complement components in other CD. Results of genetic studies (homozygous subjects vs. heterozygous carriers) and complement functional studies were analyzed to define complete (complement below the level of heterozygous carriers) and partial CD (complement above the level of homozygous patients). Presence of characteristic infections was assessed separately for complete and partial CD.
Results: Genetic analyses confirmed markedly higher prevalence of CD in Slovenian PID registry (26% of all PID) than in other national and international PID registries (0.5–6% of all PID). Complement functional studies and complement component concentrations reliably distinguished between homozygous and heterozygous CD carriers. Subjects with partial CD had higher risk for characteristic infections than previously reported.
Conclusion: Results of our study imply under-recognition of CD worldwide. Complement functional studies and complement component concentrations reliably predicted risk for characteristic infections in patients with complete or partial CD. Vaccination against encapsulated bacteria should be advocated also for subjects with partial CD and not limited to complete CD.
Keywords: complement deficiency, primary immunodeficiency, laboratory analysis, genetic analysis, clinical manifestations
Published in DiRROS: 12.11.2020; Views: 820; Downloads: 326
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63. Predlog programa dela in finančnega načrta ZGDS za leto 2020Alojzij Gluk, Jože Falkner, Anton Lesnik, Janez Konečnik, Vasja Leban, Jože Prah, Mitja Skudnik, 2020, other component parts Keywords: Zveza gozdarskih društev Slovenije, ZGDS, program dela
Published in DiRROS: 10.10.2020; Views: 927; Downloads: 293
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64. Poslovno poročilo Zveze gozdarskih društev Slovenije za leto 2019Alojzij Gluk, Jože Falkner, Anton Lesnik, Janez Konečnik, Vasja Leban, Jože Prah, Mitja Skudnik, 2020, other component parts Keywords: Zveza gozdarskih društev Slovenije, ZGDS, poslovno poročilo
Published in DiRROS: 10.10.2020; Views: 1067; Downloads: 267
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67. Effects of various cutting treatments and topographic factors on microclimatic conditions in Dinaric fir-beech forestsJanez Kermavnar, Mitja Ferlan, Aleksander Marinšek, Klemen Eler, Andrej Kobler, Lado Kutnar, 2020, original scientific article Abstract: Forest microclimate is strongly affected by local topography and management activities, as these directly alter overstory structure. In the present work we analysed the dependence of observed patterns of spatio-temporal microclimatic variations on topographic, canopy- and management-related factors. A forestry experiment was conducted in managed fir-beech forests in the Dinaric Mountains (Slovenia), which are characterized by rugged karstic terrain with numerous sinkholes. In 2012, cutting treatments representing a range in the intensity of overstory removal were performed: uncut controls (CON), 50% cut of stand growing stock (intermediate management intensity % IMI) and 100% cut (high management intensity % HMI) creating 0.4 ha canopy gaps. Fine-scale variation in aspect and slope and its effects on microclimate was assessed by comparing central, south-facing and north-facing within-sinkhole positions. We measured microclimatic variables (air temperature % T, relative humidity % RH) 0.5 m above the ground over three consecutive post-treatment growing seasons. Microclimatic variables showed an increase (T and vapour pressure deficit % VPD) or decrease (RH) with management intensity. Daily Tmax and VPDmax in HMI treatment were up to 5.9°C (on average 3.5°C) and up to 1.4 kPa (on average 0.6 kPa) higher than those in CON treatment, respectively, whereas daily RHmin was up to 22.7 (on average 13.0) percentage points lower. Regarding intra-seasonal patterns, microclimatic differences between treatments were largest during the summer. South-facing plots in the HMI treatment overall exhibited the most extreme conditions, i.e. the highest Tmax and lowest RHmin. Differences in microclimate between treatments were strongly modulated by canopy cover. The results also suggest that overstory removal increases topography-mediated variation in microclimate, as evidenced by significant differences in T, RH and VPD along the fine-scale topographic gradient within the created canopy gaps.
Keywords: tree cutting, air temperature, relative humidity, vapour pressure deficit, karst topography, canopy cover
Published in DiRROS: 08.10.2020; Views: 824; Downloads: 275
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68. Multicenter evaluation of the fully automated PCR-based Idylla EGFR Mutation Assay on formalin-fixed, paraffin-embedded Q1 tissue of human lung cancerSolène M. Evrard, Estelle T. Clermont, Isabelle Rouquette, Samuel Murray, Sebastian Dintner, Yun-Chung Nam-Apostolopoulos, Beatriz Bellosillo, Mar V. Rodriguez, Ernest Nadal, Klaus H. Wiedorn, Mitja Rot, Izidor Kern, 2019, original scientific article Abstract: Before initiating treatment of advanced nonesmall-cell lung cancer with tyrosine kinase inhibitors (eg, erlotinib, gefitinib, osimertinib, and afatinib), which inhibit the catalytic activity of epidermal growth factor receptor (EGFR), clinical guidelines require determining the EGFR mutational status for activating (EGFR exons 18, 19, 20, or 21) and resistance (EGFR exon 20) mutations. The EGFR resistance mutation T790M should be monitored at cancer progression. The Idylla EGFR Mutation Assay, performed on the Idylla molecular diagnostics platform, is a fully automated (<2.5 hours turnaround time) sample-to-result molecular test to qualitatively detect 51 EGFR oncogene point mutations, deletions, or insertions. In a 15- center evaluation, Idylla results on 449 archived formalin-fixed, paraffin-embedded tissue sections, originating from nonesmall-cell lung cancer biopsies and resection specimens, were compared with data obtained earlier with routine reference methods, including next-generation sequencing, Sanger sequencing, pyrosequencing, mass spectrometry, and PCR-based assays. When results were discordant, a third method of analysis was performed, when possible, to confirm test results. After confirmation testing and excluding invalids/errors and discordant results by design, a concordance of 97.6% was obtained between Idylla and routine test results. Even with <10 mm2 of tissue area, a valid Idylla result was obtained in 98.9% of the cases. The Idylla EGFR Mutation Assay enables sensitive detection of most relevant EGFR mutations in concordance with current guidelines, with minimal molecular expertise or infrastructure.
Keywords: non-small cell lung carconima -- diagnosis -- genetics, ErbB receptors, sequence analysis, tyrosine kinase inhibitors, epidermal growth factor receptor
Published in DiRROS: 07.10.2020; Views: 847; Downloads: 514
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69. Cabbage and fermented vegetables : from death rate heterogeneity in countries to candidates for mitigation strategies of severe COVID-19Jean Bousquet, Josep M. Antò i Boquè, Wienczyslawa Czarlewski, Tari Haahtela, Susana C. Fonseca, Guido Laccarino, Hubert Blain, Alain Vidal, Aziz Sheikh, Cezmi A. Akdis, Torsten Zuberbier, Samo Kreft, Klemen Jenko, Maja Jošt, Peter Kopač, Mitja Košnik, Karmen Kramer Vrščaj, Bojan Madjar, Davor Plavec, Tanja Soklič, Jure Urbančič, Mihaela Zidarn, 2020, original scientific article Abstract: Large differences in COVID-19 death rates exist between countries and between regions of the same country. Some very low death rate countries such as Eastern Asia, Central Europe or the Balkans have a common feature of eating large quantities of fermented foods. Although biases exist when examining ecological studies, fermented vegetables or cabbage were associated with low death rates in European countries. SARS-CoV-2 binds to its receptor, the angiotensin converting enzyme 2 (ACE2). As a result of SARS-Cov-2 binding, ACE2 downregulation enhances the angiotensin II receptor type 1 (AT1R) axis associated with oxidative stress. This leads to insulin resistanceas well as lung and endothelial damage, two severe outcomes of COVID-19. The nuclear factor (erythroid-derived 2)-like 2 (Nrf2) is the most potent antioxidant in humans and can block the AT1R axis. Cabbage contains precursors of sulforaphane, the most active natural activator of Nrf2. Fermented vegetables contain many lactobacilli, which are also potent Nrf2 activators. Three examples are given: Kimchi in Korea, westernized foods and the slum paradox. It is proposed that fermented cabbage is a proof-of-concept of dietary manipulations that may enhance Nrf2-associated antioxidant effects helpful in mitigating COVID-19 severity.
Keywords: COVID-19, diet, sulforaphane, Lactobacillus, Angiotensin converting enzyme 2, kimchi, cabbage, fermented vegetable
Published in DiRROS: 07.10.2020; Views: 863; Downloads: 193
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70. Is diet partly responsible for differences in COVID-19 death rates between and within countries? : protocol for a systematic reviewJean Bousquet, Josep M. Antò i Boquè, Guido Laccarino, Wienczyslawa Czarlewski, Tari Haahtela, Aram Anto, Cezmi A. Akdis, Hubert Blain, Giorgio Walter Canonica, Karmen Kramer Vrščaj, Tari Haahtela, Mitja Košnik, Anja Koren, Peter Kopač, Maja Jošt, Samo Kreft, Klemen Jenko, Bojan Madjar, Davor Plavec, Tanja Soklič, Jure Urbančič, Mihaela Zidarn, 2020, review article Abstract: Reported COVID-19 deaths in Germany are relatively low as compared to many European countries. Among the several explanations proposed, an early and large testing of the population was put forward. Most current debates on COVID-19 focus on the differences among countries, but little attention has been given to regional differences and diet. The low-death rate European countries (e.g. Austria, Baltic States, Czech Republic, Finland, Norway, Poland, Slovakia) have used different quarantine and/or confinement times and methods and none have performed as many early tests as Germany. Among other factors that may be significant are the dietary habits. It seems that some foods largely used in these countries may reduce angiotensin-converting enzyme activity or are anti-oxidants. Among the many possible areas of research, it might be important to understand diet and angiotensin-converting enzyme-2 (ACE2) levels in populations with different COVID-19 death rates since dietary interventions may be of great benefit.
Keywords: coronavirus, diet, angiotensin-converting enzyme, antioxidant, food
Published in DiRROS: 09.09.2020; Views: 981; Downloads: 585
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