1571. High burden of clonal mast cell disorders and hereditary ▫$α-tryptasemia$▫ in patients who need Hymenoptera venom immunotherapyPeter Korošec, Gunter Sturm, Jonathan J. Lyons, Tinkara Pirc Marolt, Manca Svetina, Mitja Košnik, Mihaela Zidarn, Mark Kačar, Nina Frelih, Nika Lalek, Ajda Demšar Luzar, Samo Zver, Matevž Škerget, Ewa Czarnobilska, Wojciech Dyga, Sanja Popović-Grle, Miroslav Samaržija, Lisa Arzt-Gradwohl, Urban Čerpes, Grzegorz Porebski, Branko Pevec, Eva Schadelbauer, Peter Kopač, Julij Šelb, Matija Rijavec, 2024, original scientific article Abstract: Background
In patients who require venom immunotherapy (VIT), there is a need to identify underlying mast cell (MC) disorders since these may affect the risk and severity of future sting reactions and the long-term effectiveness of VIT.
Methods
1319 individuals with Hymenoptera venom allergy (HVA) who needed VIT from referral centers in Slovenia, Austria, Croatia, and Poland underwent examination for KIT p.D816V in peripheral blood leukocytes (PBL) using a highly sensitive PCR test and tryptase genotyping by digital droplet PCR. We also included 183 control individuals with large local reactions (LLRs) to Hymenoptera stings and with asymptomatic sensitization to Hymenoptera venoms.
Results
285 of 1319 individuals recommended for VIT (21.6%) were positive for KIT p.D816V in PBL, preferably those who present with severe reaction (33.9% [n = 207 of 610] with Ring-Messmer grade 3–4 vs. 11% [n = 78 of 709] with Grade 1–2; p < .0001), whereas only 1.3% (n = 2 of 152) of controls with LLR and none with asymptomatic sensitization (n = 31) had KIT p.D816V. KIT p.D816V allelic burden was higher in those with severe reaction (median 0.018% [n = 207] in Grade 3–4 vs. 0.001% [n = 78] in Grade 1–2; p < .0001), and the majority had normal baseline serum tryptase levels (69% [n = 196 of 285]). All KIT p.D816V-positive individuals (n = 41) who underwent bone marrow (BM) biopsy were found to have underlying clonal diseases, principally BM mastocytosis. HαT was also associated with severe HVA and symptoms (p < .01), and remarkably, 31.0% (n = 31 of 100) were found to have concomitant KIT p.D816V. Concomitant HαT and KIT p.D816V showed an additive effect, and having both was associated with the highest risk for severe HVA, even higher than having either HαT or KIT p.D816V alone (OR = 3.8; p < .01).
Conclusions
By employing prospective universal tryptase genotyping and examination for KIT p.D816V in PBL in large HVA populations, we have demonstrated a high burden of clonal MC disorders and HαT in patients who require VIT.
Keywords: anaphylaxis, hereditary α-tryptasemia, hypersensitivity, immunotherapy, mast cell, mastocytosis, venom
Published in DiRROS: 17.06.2024; Views: 432; Downloads: 275
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1572. Multisensory mechanisms of gait and balance in Parkinson's disease : an integrative reviewStiven Roytman, Rebecca Paalanen, Giulia Carli, Uroš Marušič, Prabesh Kanel, Teus van Laar, Nicolaas I. Bohnen, 2025, review article Abstract: Understanding the neural underpinning of human gait and balance is one of the most pertinent challenges for 21st-century translational neuroscience due to the profound impact that falls and mobility disturbances have on our aging population. Posture and gait control does not happen automatically, as previously believed, but rather requires continuous involvement of central nervous mechanisms. To effectively exert control over the body, the brain must integrate multiple streams of sensory information, including visual, vestibular, and somatosensory signals. The mechanisms which underpin the integration of these multisensory signals are the principal topic of the present work. Existing multisensory integration theories focus on how failure of cognitive processes thought to be involved in multisensory integration leads to falls in older adults. Insufficient emphasis, however, has been placed on specific contributions of individual sensory modalities to multisensory integration processes and cross-modal interactions that occur between the sensory modalities in relation to gait and balance. In the present work, we review the contributions of somatosensory, visual, and vestibular modalities, along with their multisensory intersections to gait and balance in older adults and patients with Parkinson's disease. We also review evidence of vestibular contributions to multisensory temporal binding windows, previously shown to be highly pertinent to fall risk in older adults. Lastly, we relate multisensory vestibular mechanisms to potential neural substrates, both at the level of neurobiology (concerning positron emission tomography imaging) and at the level of electrophysiology (concerning electroencephalography). We hope that this integrative review, drawing influence across multiple subdisciplines of neuroscience, paves the way for novel research directions and therapeutic neuromodulatory approaches, to improve the lives of older adults and patients with neurodegenerative diseases.
Keywords: aging, gait, balance, encephalography, functional magnetic resonance imaging, multisensory integration
Published in DiRROS: 17.06.2024; Views: 331; Downloads: 362
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1574. Namnožitev bukovega rilčkarja skakača v Sloveniji v letu 2024 - Orchestes fagi (Linnaeus, 1758)Eva Groznik, Maarten De Groot, Tine Hauptman, 2024, popular article Keywords: gozdovi, Varstvo gozdov, bukov rilčkar skakač, Slovenija, namnožitev
Published in DiRROS: 13.06.2024; Views: 388; Downloads: 169
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1576. A five-step framework for creating forests for the futureMarko Kovač, Gregor Božič, Andreja Ferreira, Gal Kušar, Boštjan Mali, 2024, original scientific article Abstract: Changing environmental conditions, disturbances, and escalating demands for forest ecosystem services require foresters to restore present forestlands with new forest generations that will exhibit ecological integrity, diversity, high adaptive capacity, and the ability to provide essential ecosystem services. Establishing such forests requires careful consideration of the forest landscape and site dynamics. In pursuit of these requirements, we developed a novel framework that enables the restoration of forest sites and promotes the desired features of the forest complex at the same time. This framework was designed with the methods of system engineering and was organized in the same way as the forest planning process. It was tested in the habitat type of Illyrian Fagus sylvatica forests belonging to the Natura 2000 network. The environmental, vegetation, and site conditions were investigated via field inspections, available forest management plans, and simple GIS analyses. Additionally, we established a seminatural stand composed of European beech, sessile oak, sycamore maple, silver fir, and some wild fruit tree species. The survival of planted species was assessed using census and simple random sampling, the performance of provenances by the Student’s test, while microhabitat factors were explored by a one-way ANOVA. The survival rate of key species was estimated to be 55.6%, while that of fruit species was estimated to be 94.5%. Our framework demonstrated satisfactory performance and contained sufficient benchmarks to facilitate consistent decision-making. In the discussion, we elucidate the framework’s primary features and attributes of the mixed stand, where we also expose some open issues to be addressed in the future.
Keywords: restoration, forest habitat type, indigenous species, planting, mixed stand, key species, fruit species
Published in DiRROS: 13.06.2024; Views: 372; Downloads: 218
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1578. Do bromine and surface-active substances influence the coastal atmospheric particle growth?Kristijan Vidović, Samo B. Hočevar, Irena Grgić, Dino Metarapi, Iva Dominović, Boris Mifka, Asta Gregorič, Bálint Alföldy, Irena Ciglenečki-Jušić, 2024, original scientific article Published in DiRROS: 12.06.2024; Views: 374; Downloads: 272
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1579. Evidence-based unification of potato gene models with the UniTato collaborative genome browserMaja Zagorščak, Jan Zrimec, Carissa Bleker, Nadja Francesca Nolte, Mojca Juteršek, Živa Ramšak, Kristina Gruden, Marko Petek, 2024, original scientific article Abstract: Potato (Solanum tuberosum) is the most popular tuber crop and a model organism. A variety of gene models for potato exist, and despite frequent updates, they are not unified. This hinders the comparison of gene models across versions, limits the ability to reuse experimental data without significant re-analysis, and leads to missing or wrongly annotated genes. Here, we unify the recent potato double monoploid v4 and v6 gene models by developing an automated merging protocol, resulting in a Unified poTato genome model (UniTato). We subsequently established an Apollo genome browser (unitato.nib.si) that enables public access to UniTato and further community-based curation. We demonstrate how the UniTato resource can help resolve problems with missing or misplaced genes and can be used to update or consolidate a wider set of gene models or genome information. The automated protocol, genome annotation files, and a comprehensive translation table are provided at github.com/NIB-SI/unitato.
Keywords: bioinformatics analysis, plant genome annotation, gene model annotations, Phureja group, GFF files, poTato genome model, UniTato
Published in DiRROS: 11.06.2024; Views: 350; Downloads: 328
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1580. Nutrition of patients with severe neurologic impairmentAnija Orel, Matjaž Homan, Rok Blagus, Evgen Benedik, Rok Orel, Nataša Fidler Mis, 2018, original scientific article Abstract: Background. Commercial enteral formulas are generally recommended for gastrostomy feeding in patients with severe neurologic impairment. However, pureed food diets are still widely used and even gaining popularity among certain groups. We tried to compare the effectiveness of gastrostomy feeding for treatment of severe malnutrition with either enteral formulas or pureed feeds. Patients and methods. A 6-month nutritional intervention was made with 37 malnourished children, adolescents and young adults (2%26 years old) with severe neurologic impairment (Gross Motor Function Classification system [GMFCS] grade V). The individual needs were calculated. Participants were fed by gastrostomy with either enteral formulas (n = 17) or pureed food (n = 20). Measurements to assess nutritional status were made at the beginning and at the end of intervention. Results. The Z scores for weight-for-age and for the body-mass index increased more in enteral formula than in pureed food group (2.07 vs. 0.70, p = 0.0012; and 3.75 vs. 0.63, p = 0.0014, respectively). Fat mass index increased more in enteral formula than in pureed food group (1.12 kg/m2 vs. 0.38 kg/m2; p = 0.0012). Patients in the enteral formula group showed increase in lean body mass expressed as fat-free mass index (0.70 kg/m2), while those in pureed food group did not (-0.06 kg/m2) (p = 0.0487). Conclusions. The results suggest that even professionally planned pureed food diet is less effective than commercial enteral formula for nutritional rehabilitation of malnourished patients with severe neurologic impairment. However, larger and if possible randomised clinical studies should be made to confirm our findings.
Keywords: malnutrition, severe neurologic impairment, gastrostomy
Published in DiRROS: 11.06.2024; Views: 288; Downloads: 98
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