| 1. |
- Burrascano, S., et al.
(author)
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Where are we now with European forest multi-taxon biodiversity and where can we head to?
- 2023
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In: Biological Conservation. - 0006-3207. ; 284
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Journal article (peer-reviewed)abstract
- The European biodiversity and forest strategies rely on forest sustainable management (SFM) to conserve forest biodiversity. However, current sustainability assessments hardly account for direct biodiversity indicators. We focused on forest multi-taxon biodiversity to: i) gather and map the existing information; ii) identify knowledge and research gaps; iii) discuss its research potential. We established a research network to fit data on species, standing trees, lying deadwood and sampling unit description from 34 local datasets across 3591 sampling units. A total of 8724 species were represented, with the share of common and rare species varying across taxonomic classes: some included many species with several rare ones (e.g., Insecta); others (e.g., Bryopsida) were repre-sented by few common species. Tree-related structural attributes were sampled in a subset of sampling units (2889; 2356; 2309 and 1388 respectively for diameter, height, deadwood and microhabitats). Overall, multi-taxon studies are biased towards mature forests and may underrepresent the species related to other develop-mental phases. European forest compositional categories were all represented, but beech forests were over-represented as compared to thermophilous and boreal forests. Most sampling units (94%) were referred to a habitat type of conservation concern. Existing information may support European conservation and SFM stra-tegies in: (i) methodological harmonization and coordinated monitoring; (ii) definition and testing of SFM in-dicators and thresholds; (iii) data-driven assessment of the effects of environmental and management drivers on multi-taxon forest biological and functional diversity, (iv) multi-scale forest monitoring integrating in-situ and remotely sensed information.
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| 2. |
- Pugin, D, et al.
(author)
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Resting-State Brain Activity for Early Prediction Outcome in Postanoxic Patients in a Coma with Indeterminate Clinical Prognosis.
- 2020
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In: American Journal of Neuroradiology. - : American Society of Neuroradiology (ASNR). - 0195-6108 .- 1936-959X. ; 41:6, s. 1022-1030
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Journal article (peer-reviewed)abstract
- BACKGROUND AND PURPOSE: Early outcome prediction of postanoxic patients in a coma after cardiac arrest proves challenging. Current prognostication relies on multimodal testing, using clinical examination, electrophysiologic testing, biomarkers, and structural MR imaging. While this multimodal prognostication is accurate for predicting poor outcome (ie, death), it is not sensitive enough to identify good outcome (ie, consciousness recovery), thus leaving many patients with indeterminate prognosis. We specifically assessed whether resting-state fMRI provides prognostic information, notably in postanoxic patients in a coma with indeterminate prognosis early after cardiac arrest, specifically for good outcome.MATERIALS AND METHODS: We used resting-state fMRI in a prospective study to compare whole-brain functional connectivity between patients with good and poor outcomes, implementing support vector machine learning. Then, we automatically predicted coma outcome using resting-state fMRI and also compared the prediction based on resting-state fMRI with the outcome prediction based on DWI.RESULTS: Of 17 eligible patients who completed the study procedure (among 351 patients screened), 9 regained consciousness and 8 remained comatose. We found higher functional connectivity in patients recovering consciousness, with greater changes occurring within and between the occipitoparietal and temporofrontal regions. Coma outcome prognostication based on resting-state fMRI machine learning was very accurate, notably for identifying patients with good outcome (accuracy, 94.4%; area under the receiver operating curve, 0.94). Outcome predictors using resting-state fMRI performed significantly better (P < .05) than DWI (accuracy, 60.0%; area under the receiver operating curve, 0.63).CONCLUSIONS: Indeterminate prognosis might lead to major clinical uncertainty and significant variations in life-sustaining treatments. Resting-state fMRI might bridge the gap left in early prognostication of postanoxic patients in a coma by identifying those with both good and poor outcomes.
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| 3. |
- Hammarsjo, A, et al.
(author)
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Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
- 2017
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In: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7:1, s. 15585-
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Journal article (peer-reviewed)abstract
- The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia. The manifestations in our patients are variable and ranging from fetal lethal to viable and moderate skeletal dysplasia with narrow thorax and abnormal metaphyses. We demonstrate that KIAA0753 is expressed in normal fetal human growth plate and show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone. The importance of KIAA0753 for normal skeletal development is further confirmed by our findings that zebrafish embryos homozygous for a nonsense mutation in kiaa0753 display altered cartilage patterning.
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| 8. |
- Nilsson, D., et al.
(author)
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Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
- 2017
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In: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 38:2, s. 180-192
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Journal article (peer-reviewed)abstract
- Most balanced translocations are thought to result mechanistically from nonhomologous end joining or, in rare cases of recurrent events, by nonallelic homologous recombination. Here, we use low-coverage mate pair whole-genome sequencing to fine map rearrangement breakpoint junctions in both phenotypically normal and affected translocation carriers. In total, 46 junctions from 22 carriers of balanced translocations were characterized. Genes were disrupted in 48% of the breakpoints; recessive genes in four normal carriers and known dominant intellectual disability genes in three affected carriers. Finally, seven candidate disease genes were disrupted in five carriers with neurocognitive disabilities (SVOPL, SUSD1, TOX, NCALD, SLC4A10) and one XX-male carrier with Tourette syndrome (LYPD6, GPC5). Breakpoint junction analyses revealed microhomology and small templated insertions in a substantive fraction of the analyzed translocations (17.4%; n = 4); an observation that was substantiated by reanalysis of 37 previously published translocation junctions. Microhomology associated with templated insertions is a characteristic seen in the breakpoint junctions of rearrangements mediated by error-prone replication-based repair mechanisms. Our data implicate that a mechanism involving template switching might contribute to the formation of at least 15% of the interchromosomal translocation events.
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| 9. |
- Oulehle, Filip, et al.
(author)
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Major changes in forest carbon and nitrogen cycling caused by declining sulphur deposition
- 2011
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In: Global Change Biology. - : Wiley. - 1354-1013 .- 1365-2486. ; 17:10, s. 3115-3129
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Journal article (peer-reviewed)abstract
- Sulphur (S) and nitrogen (N) deposition are important drivers of the terrestrial carbon (C) and N cycling. We analyzed changes in C and N pools in soil and tree biomass at a highly acidified spruce site in the Czech Republic during a 15 year period. Total S deposition decreased from 5 to 1.1 g m(-2) yr(-1) between 1995 and 2009, whereas bulk N deposition did not change. Over the same period, C and N pools in the Oa horizon declined by 116 g C and 4.2 g N m(-2) yr(-1), a total decrease of 47% and 42%, respectively. This loss of C and N probably originated from organic matter (OM) that had accumulated during the period of high acid deposition when litter decomposition was suppressed. The loss of OM from the Oa horizon coincided with a substantial leaching (1.3 g N m(-2) yr(-1) at 90 cm) in the 1990s to almost no leaching (<0.02 g N m(-2) yr(-1)) since 2006. Forest floor net N mineralization also decreased. This had consequences for spruce needle N concentration (from 17.1 to 11.4 mg kg(-1) in current needles), an increase in litterfall C/N ratio (from 51 to 63), and a significant increase in the Oi + Oe horizon C/N ratio (from 23.4 to 27.3) between 1994 and 2009/2010. Higher forest growth and lower canopy defoliation was observed in the 2000s compared to the 1990s. Our results demonstrate that reducing S deposition has had a profound impact on forest organic matter cycling, leading to a reversal of historic ecosystem N enrichment, cessation of nitrate leaching, and a major loss of accumulated organic soil C and N stocks. These results have major implications for our understanding of the controls on both N saturation and C sequestration in forests, and other ecosystems, subjected to current or historic S deposition.
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| 11. |
- Pietrow, A. G. M., et al.
(author)
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A comparative study of two X2.2 and X9.3 solar flares observed with HARPS-N : Reconciling Sun-as-a-star spectroscopy and high-spatial resolution solar observations in the context of the solar-stellar connection
- 2024
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In: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 682
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Journal article (peer-reviewed)abstract
- Context. Stellar flares cannot be spatially resolved, which complicates ascertaining the physical processes behind particular spectral signatures. Due to their proximity to Earth, solar flares can serve as a stepping stone for understanding their stellar counterparts, especially when using a Sun-as-a-star instrument and in combination with spatially resolved observations.Aims. We aim to understand the disk-integrated spectral behaviors of a confined X2.2 flare and its eruptive X9.3 successor, which had energies of 2.2 × 1031 erg and 9.3 × 1031 erg, respectively, as measured by Sun-as-a-star observations with the High Accuracy Radial velocity Planet Searcher for the Northern hemisphere (HARPS-N).Methods. The behavior of multiple photospheric (Na D1 & D2, Mg I at 5173 Å, Fe I at 6173 Å, and Mn I at 4031 Å) and chromospheric (Ca II H & K, Hα, Hβ, and He ID3) spectral lines were investigated by means of activity indices and contrast profiles. A number of different photospheric lines were also investigated by means of equivalent widths, and radial velocity measures, which were then related to physical processes directly observed in high-resolution observations made with the Swedish 1-m Solar Telescope (SST) and the Atmospheric Imaging Assembly (AIA) on board of the Solar Dynamics Observatory (SDO).Results. Our findings suggest a relationship between the evolving shapes of contrast profile time and the flare locations, which assists in constraining flare locations in disk-integrated observations. In addition, an upward bias was found in flare statistics based on activity indices derived from the Ca II H & K lines. In this case, much smaller flares cause a similar increase in the activity index as that produced by larger flares. Hα-based activity indices do not show this bias and are therefore less susceptible to activity jitter. Sodium line profiles show a strongly asymmetric response during flare activity, which is best captured with a newly defined asymmetrical sodium activity index. A strong flare response was detected in Mn I line profiles, which is unexpected and calls for further exploration. Intensity increases in Hα, Hβ, and certain spectral windows of AIA before the flare onset suggest their potential use as short-term flare predictors.
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| 13. |
- Wang, CH, et al.
(author)
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Consensus statement on standard of care for congenital myopathies
- 2012
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In: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 27:3, s. 363-382
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Journal article (peer-reviewed)abstract
- Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee’s recommendations for symptom assessments and therapeutic interventions. It is the committee’s goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.
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| 14. |
- Weis, J., et al.
(author)
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Sensitivity to change of the EORTC quality of life module measuring cancer-related fatigue (EORTC QlQ-Fa12): Results from the international psychometric validation
- 2019
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In: Psycho-Oncology. - : Wiley. - 1057-9249 .- 1099-1611. ; 28, s. 1753-1761
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Journal article (peer-reviewed)abstract
- Objective The European Organisation for Research and Treatment of Cancer Quality of Life Group (EORTC QLG) has developed a multidimensional instrument measuring cancer-related fatigue, the EORTC QLQ-FA12. The analysis of sensitivity to change is an essential part of psychometric validation. With this study, we investigated the EORTC QLQ-FA12's sensitivity to change. Methods The methodology follows the EORTC guidelines of EORTC QLG for phase IV validation of modules. We included cancer patients undergoing curative and palliative treatment at t1 and followed them up prospectively over the course of their treatment (t2) and 4 weeks after completion of treatment (t3). Data were collected prospectively at 17 sites in 11 countries. Sensitivity to change was investigated using analysis of variance. Results A total sample of 533 patients was enrolled with various tumour types, different stages of cancer, and receiving either curative treatment (n=311) or palliative treatment (n=222). Over time all fatigue scores were significantly higher in the palliative treatment group compared with the curative group (p < .001). Physical fatigue increased with medium effect size over the course of treatment in the curative group (standardized response mean [SRM] (t1,t2) = 0.44]. After treatment physical [SRM (t2,t3) = 0.39], emotional [SRM (t2,t3)= 0.28] and cognitive fatigue (SRM [t2,t3] = 0.22) declined significantly in the curative group. In the palliative group, emotional (SRM [t2,t3] = 0.18) as well as cognitive [SRM [t2,t3] = 0.26) fatigue increases significantly. Conclusions The EORTC-QLQ-FA12 proved to identify clinically significant changes in fatigue in the course of curative and palliative cancer treatment.
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