121. Cold urticaria : what we know and what we do not knowNatalya Maltseva, Elena Borzova, Daria Fomina, Mojca Bizjak, Dorothea Terhorst, Mitja Košnik, Kanokvalai Kulthanan, Raisa Meshkova, Simon Francis Thomsen, Marcus Maurer, 2020, izvirni znanstveni članek Povzetek: Cold urticaria (ColdU) is a common form of chronic inducible urticaria characterised by the development of wheals, angioedema or both in response to cold exposure. Recent research and guideline updates have advanced our understanding and management of ColdU. Today, its pathophysiology is thought to involve the cold-induced formation of autoallergens and IgE to these autoallergens, which provoke a release of proinflammatory mediators from skin mast cells. The classification of ColdU includes typical and atypical subtypes. We know that cold-induced wheals usually develop on rewarming and resolve within an hour and that anaphylaxis can occur. The diagnosis relies on the patient's history and cold stimulation testing. Additional diagnostic work-up, including a search for underlying infections, should only be done if indicated by the patient's history. The management of ColdU includes cold avoidance, the regular use of nonsedating antihistamines, and the off-label use of omalizumab. However, many questions regarding ColdU remain unanswered. Here, we review what is known about ColdU, and we present important unanswered questions on the epidemiology, underlying pathomechanisms, clinical heterogeneity and treatment outcomes. Our aim is to guide future efforts that will close these knowledge gaps and advance the management of ColdU.
Ključne besede: urticaria, cryopyrin-associated periodic syndromes, cold-induced urticaria, familial cold autoinflammatory syndrome, cold stimulation testing, wheals, cryoglobulinemic vasculitis, cryoglobulins
Objavljeno v DiRROS: 14.12.2020; Ogledov: 1310; Prenosov: 374
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122. 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: 1291; Prenosov: 284
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123. Razmejitev provenienčnih območij gozdnih drevesnih vrst v Sloveniji na osnovi ekoloških regijLado Kutnar, Mitja Zupančič, Dušan Robič, Nina Zupančič, Sašo Žitnik, Tone Kralj, Irena Tavčar, Mojca Dolinar, Ciril Zrnec, Hojka Kraigher, 2002, strokovni članek Povzetek: Zakon o gozdnem reprodukcijskem materialu, ki je bil sprejet junija 2002, v skladu z Direktivo EU o gozdnem reprodukcijskem materialu, zahteva določitev provenienčnih območij za pridobivanje in uporabo gozdnega reprodukcijskega materiala. V prispevku je predstavljen predlog oblikovanja ekoloških regij in podregij, ki so osnova za predlagano razmejitev provenienčnih območij. Meje ekoloških regij so lahko prehodne ali mozaično razporejene. Zaradi lažjega določanja provenienčnih območij na terenu in lažjega nadzora nad sadnjo oziroma setvijo so meje provenienčnih območij čimbolj prilagojene gospodarsko-ureditvenim in administrativnim mejam, ki so po možnosti označene na terenu. Predstavljene so osnove za oblikovanje in predlog razmejitve 7 provenienčnih območij, razdeljenih na štiri višinske pasove.
Ključne besede: ekološka regija, provenienčno območje, fitogeografska delitev, gozdni reprodukcijski material, uporaba, Slovenija
Objavljeno v DiRROS: 17.11.2020; Ogledov: 1412; Prenosov: 519
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125. 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, izvirni znanstveni članek Povzetek: 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.
Ključne besede: complement deficiency, primary immunodeficiency, laboratory analysis, genetic analysis, clinical manifestations
Objavljeno v DiRROS: 12.11.2020; Ogledov: 1402; Prenosov: 601
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126. Predlog programa dela in finančnega načrta ZGDS za leto 2020Alojzij Gluk, Jože Falkner, Anton Lesnik, Janez Konečnik, Vasja Leban, Jože Prah, Mitja Skudnik, 2020, drugi sestavni deli Ključne besede: Zveza gozdarskih društev Slovenije, ZGDS, program dela
Objavljeno v DiRROS: 10.10.2020; Ogledov: 1577; Prenosov: 446
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127. Poslovno poročilo Zveze gozdarskih društev Slovenije za leto 2019Alojzij Gluk, Jože Falkner, Anton Lesnik, Janez Konečnik, Vasja Leban, Jože Prah, Mitja Skudnik, 2020, drugi sestavni deli Ključne besede: Zveza gozdarskih društev Slovenije, ZGDS, poslovno poročilo
Objavljeno v DiRROS: 10.10.2020; Ogledov: 1734; Prenosov: 413
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129. Je mogoče pripisati vrednost vsem ekosistemskim storitvam, ki jih nudi gozd?Mitja Skudnik, Polona Hafner, 2020, predgovor, uvodnik, spremna beseda Ključne besede: ekosistemske storitve, gozdovi, posredni pomen gozdov, vrednotenje
Objavljeno v DiRROS: 10.10.2020; Ogledov: 1379; Prenosov: 432
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130. 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, izvirni znanstveni članek Povzetek: 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.
Ključne besede: tree cutting, air temperature, relative humidity, vapour pressure deficit, karst topography, canopy cover
Objavljeno v DiRROS: 08.10.2020; Ogledov: 1343; Prenosov: 567
Celotno besedilo (1,59 MB)
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