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- El-Khaled, Yusuf C., et al.
(författare)
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Fleshy red algae mats act as temporary reservoirs for sessile invertebrate biodiversity
- 2022
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Ingår i: Communications Biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 5:1
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Tidskriftsartikel (refereegranskat)abstract
- Many coastal ecosystems, such as coral reefs and seagrass meadows, currently experience overgrowth by fleshy algae due to the interplay of local and global stressors. This is usually accompanied by strong decreases in habitat complexity and biodiversity. Recently, persistent, mat-forming fleshy red algae, previously described for the Black Sea and several Atlantic locations, have also been observed in the Mediterranean. These several centimetre high mats may displace seagrass meadows and invertebrate communities, potentially causing a substantial loss of associated biodiversity. We show that the sessile invertebrate biodiversity in these red algae mats is high and exceeds that of neighbouring seagrass meadows. Comparative biodiversity indices were similar to or higher than those recently described for calcifying green algae habitats and biodiversity hotspots like coral reefs or mangrove forests. Our findings suggest that fleshy red algae mats can act as alternative habitats and temporary sessile invertebrate biodiversity reservoirs in times of environmental change.
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| 2. |
- Hladik, Michelle L., et al.
(författare)
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Evaluating the reliability of environmental concentration data to characterize exposure in environmental risk assessments
- 2024
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Ingår i: Integrated Environmental Assessment and Management. - 1551-3777 .- 1551-3793. ; 20:4, s. 981-1003
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Tidskriftsartikel (refereegranskat)abstract
- Environmental risk assessments often rely on measured concentrations in environmental matrices to characterize exposure of the population of interest—typically, humans, aquatic biota, or other wildlife. Yet, there is limited guidance available on how to report and evaluate exposure datasets for reliability and relevance, despite their importance to regulatory decision-making. This paper is the second of a four-paper series detailing the outcomes of a Society of Environmental Toxicology and Chemistry Technical Workshop that has developed Criteria for Reporting and Evaluating Exposure Datasets (CREED). It presents specific criteria to systematically evaluate the reliability of environmental exposure datasets. These criteria can help risk assessors understand and characterize uncertainties when existing data are used in various types of assessments and can serve as guidance on best practice for the reporting of data for data generators (to maximize utility of their datasets). Although most reliability criteria are universal, some practices may need to be evaluated considering the purpose of the assessment. Reliability refers to the inherent quality of the dataset and evaluation criteria address the identification of analytes, study sites, environmental matrices, sampling dates, sample collection methods, analytical method performance, data handling or aggregation, treatment of censored data, and generation of summary statistics. Each criterion is evaluated as “fully met,” “partly met,” “not met or inappropriate,” “not reported,” or “not applicable” for the dataset being reviewed. The evaluation concludes with a scheme for scoring the dataset as reliable with or without restrictions, not reliable, or not assignable, and is demonstrated with three case studies representing both organic and inorganic constituents, and different study designs and assessment purposes. Reliability evaluation can be used in conjunction with relevance evaluation (assessed separately) to determine the extent to which environmental monitoring datasets are “fit for purpose,” that is, suitable for use in various types of assessments.
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| 3. |
- Mackay, Donna S, et al.
(författare)
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Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations
- 2013
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 34:11, s. 1537-1546
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Tidskriftsartikel (refereegranskat)abstract
- This study was undertaken to investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis (LCA), early-onset retinal dystrophy (EORD), and autosomal recessive retinitis pigmentosa (arRP); to delineate the ocular phenotypes; and to provide an overview of all published LCA5 variants in an online database. Patients underwent standard ophthalmic evaluations after providing informed consent. In selected patients, optical coherence tomography (OCT) and fundus autofluorescence imaging were possible. DNA samples from 797 unrelated patients with LCA and 211 with the various types of retinitis pigmentosa (RP) were screened by Sanger sequence analysis of all LCA5 exons and intron/exon junctions. Some LCA patients were prescreened by APEX technology or selected based on homozygosity mapping. In silico analyses were performed to assess the pathogenicity of the variants. Segregation analysis was performed where possible. Published and novel LCA5 variants were collected, amended for their correct nomenclature, and listed in a Leiden Open Variation Database (LOVD). Sequence analysis identified 18 new probands with 19 different LCA5 variants. Seventeen of the 19 LCA5 variants were novel. Except for two missense variants and one splice site variant, all variants were protein-truncating mutations. Most patients expressed a severe phenotype, typical of LCA. However, some LCA subjects had better vision and intact inner segment/outer segment (IS/OS) junctions on OCT imaging. In two families with LCA5 variants, the phenotype was more compatible with EORD with affected individuals displaying preserved islands of retinal pigment epithelium. One of the families with a milder phenotype harbored a homozygous splice site mutation; a second family was found to have a combination of a stop mutation and a missense mutation. This is the largest LCA5 study to date. We sequenced 1,008 patients (797 with LCA, 211 with arRP) and identified 18 probands with LCA5 mutations. Mutations in LCA5 are a rare cause of childhood retinal dystrophy accounting for ∼2% of disease in this cohort, and the majority of LCA5 mutations are likely null. The LCA5 protein truncating mutations are predominantly associated with LCA. However, in two families with the milder EORD, the LCA5 gene analysis revealed a homozygous splice site mutation in one and a stop mutation in combination with a missense mutation in a second family, suggesting that this milder phenotype is due to residual function of lebercilin and expanding the currently known phenotypic spectrum to include the milder early onset RP. Some patients have remaining foveal cone structures (intact IS/OS junctions on OCT imaging) and remaining visual acuities, which may bode well for upcoming treatment trials.
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| 5. |
- van Gils, Jos, et al.
(författare)
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Computational material flow analysis for thousands of chemicals of emerging concern in European waters
- 2020
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Ingår i: Journal of Hazardous Materials. - : Elsevier BV. - 0304-3894 .- 1873-3336. ; 397
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Tidskriftsartikel (refereegranskat)abstract
- Knowledge of exposure to a wide range of chemicals, and the spatio-temporal variability thereof, is urgently needed in the context of protecting and restoring aquatic ecosystems. This paper discusses a computational material flow analysis to predict the occurrence of thousands of man-made organic chemicals on a European scale, based on a novel temporally and spatially resolved modelling framework. The goal was to increase understanding of pressures by emerging chemicals and to complement surface water monitoring data. The ambition was to provide a first step towards a real-life mixture exposure situation accounting for as many chemicals as possible. Comparison of simulated concentrations and chemical monitoring data for 226 substance/basin combinations showed that the simulated concentrations were accurate on average. For 65% and 90% of substance/basin combinations the error was within one and two orders of magnitude respectively. An analysis of the relative importance of uncertainties revealed that inaccuracies in use volume or use type information contributed most to the error for individual substances. To resolve this, we suggest better registration of use types of industrial chemicals, investigation of presence/absence of industrial chemicals in wastewater and runoff samples and more scientific information exchange.
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