11. A methodological proposal for the climate change risk assessment of coastal habitats based on the evaluation of ecosystem services : lessons learnt from the INTERREG project ECO-SMARTAlberto Barausse, Cécil J. W. Meulenberg, Irene Occhipinti, Marco Abordi, Lara Endrizzi, Giovanna Guadagnin, Mirco Piron, Francesca Visintin, Liliana Vižintin, Alessandro Manzardo, 2022, original scientific article Abstract: Climate change is seriously impacting coastal biodiversity and the benefits it provides to humans. This issue is particularly relevant in the case of the European Union’s Natura 2000 network of areas for nature protection, where the sensitivity of local ecosystems calls for intervention to increase resistance and resilience to climate-related risks. Given the complex ways in which climate can influence conservation hotspot areas, there is a need to develop effective strategic approaches and general operational models to identify priorities for management and inform adaptation and mitigation measures. Here, a novel methodological proposal to perform climate risk assessment in Natura 2000 sites is presented that implements the systematic approach of ISO 14090 in combination with the theoretical framework of ecosystem services assessment and local stakeholder participation to identify climate-related issues for local protected habitats and improve the knowledge base needed to plan sustainable conservation and restoration measures. The methodology was applied to five Natura 2000 sites located along the Adriatic coast of Italy and Slovenia. Results show that each of the assessed sites, despite being along the coast of the same sea, is affected by different climate-related issues, impacting different habitats and corresponding ecosystem services. This novel methodology enables a simple and rapid screening for the prioritization of conservation actions and of the possible further investigations needed to support decision making, and was found to be robust and of general applicability. These findings highlight the importance of designing site-specific adaptation measures, tailored to address the peculiar response to climate change of each site in terms of biodiversity and ecosystem services.
Keywords: ecosystem, ecosystem services, climate change adaptation, nature conservation, sustainability, coastal management
Published in DiRROS: 01.07.2022; Views: 670; Downloads: 445
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12. 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: 892; Downloads: 533
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13. Absence of adverse effects of tiotropium/ olodaterol compared with the monocomponents on long-term heart rate and blood pressure in patients with moderate-to-very-severe COPDStefan Andreas, Lorcan Mcgarvey, Ulrich Bothner, Matthias Trampisch, Alberto De La Hoz, Matjaž Fležar, Roland Buhl, Peter Alter, 2020, original scientific article Abstract: Introduction: Long-acting [beta]2-agonists (LABAs) and long-acting muscarinic antagonists (LAMAs) are established maintenance bronchodilator treatments for chronic obstructive pulmonary disease (COPD) with the potential to increase heart rate (HR) and impact blood pressure (BP). While previous studies indicate that HR and BP are not negatively influenced by tiotropium or olodaterol monotherapy, the effect of tiotropium/olodaterol has not been evaluated. We report a post hoc analysis of the effect of dual bronchodilation with tiotropium/olodaterol versus monocomponents on HR and BP in patients with moderate-to-very-severe COPD included in the large TONADO© study. Methods: The TONADO© trials (1237.5 [NCT01431274] and 1237.6 [NCT01431287]) were two replicate, randomized, double-blind, parallel-group, 52-week, Phase III trials that compared tiotropium/olodaterol (5/5 [micro]g and 2.5/5 [micro]g) with tiotropium (5 [micro]g and 2.5 [micro]g) and olodaterol (5 [micro]g) in patients with moderate-to-very-severe COPD. Patients with cardiovascular comorbidities were included. Changes in HR and systolic/diastolic BP were measured before and after dosing with the study medication at each visit (baseline, Week 12, Week 24 and Week 52). Results: Overall, 3,100 patients were included in this analysis. Over 52 weeks, small changes from baseline in mean HR (<2 beats per minute [bpm]) and small changes from pre- to post-dose (<1 bpm) were evident at different time points. There was a non-significant increase from baseline in mean diastolic and systolic BP (<2 mmHg) observed over 52 weeks of treatment. The short-term (1 hour pre- to 1 hour post-dose) mean changes in systolic and diastolic BP over 52 weeks in the tiotropium/olodaterol 5/5 [micro]g group were comparable with those observed for the monocomponents at all time points. Conclusion: There were no differences in HR or BP among patients on tiotropium/olodaterol when compared with monocomponents. This supports the already demonstrated cardiovascular safety profile of tiotropium/olodaterol as long-acting maintenance bronchodilator treatment for COPD, including patients with cardiovascular comorbidities.
Keywords: pulmonary disease, chronic obstructive -- drug therapy, heart rate, blood pressure, tiotropium, olodaterol
Published in DiRROS: 21.09.2020; Views: 1467; Downloads: 957
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