304 research outputs found

    Diversity, distribution and composition of abyssal benthic Isopoda in a region proposed for deep-seafloor mining of polymetallic nodules : a synthesis

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    Due to the increasing challenge of meeting human demands for metals from land-based resources, interest in extracting mineral ores from the deep sea has gained momentum in recent years. Targeted mining of deep-seabed minerals could have adverse effects on the associated ecosystems, but knowledge on the biological communities found there, their structure and functions is still limited. The focus of this study is to provide an overview on isopod crustaceans from the Clarion Clipperton Fracture Zone (CCFZ), an area well-known for its abundance of high-grade polymetallic nodules. Isopods generally comprise an important part of the macrofaunal communities of soft deep-sea sediments and indeed are one of the most dominant macrobenthic groups in the CCFZ. In this review, we have compiled all available data and information on isopod diversity and distribution in the CCFZ in a hybrid manner, which includes published data from the literature as well as the analysis of previously unpublished sources and newly collected data. Although isopods are one of the more prevalent and better-known groups of the CCFZ fauna, this study shows that it is still remarkably difficult to obtain a clear perception of isopod diversity and distribution, as well as the factors that could be responsible for the observed patterns. In many places, knowledge remains incomplete, which is largely due to the low sampling and taxonomic effort, non-standardised sample protocols and the limited taxonomic inter-calibration between studies. The latter is pivotal due to the high proportion of undescribed and presumably new species that typically occur there. An important starting point would therefore be to increase sampling effort and its spatial and temporal coverage in a standardised way, to intensify (integrative) taxonomic work as well as to facilitate sample and data exchange between scientists and contractors. These are fundamental requirements to improve our understanding of the biodiversity of isopods, but also of other faunal groups, in the CCFZ, before mining operations begin

    Review of the Central and South Atlantic Shelf and Deep-Sea Benthos: Science, Policy, and Management

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    The Central and South Atlantic represents a vast ocean area and is home to a diverse range of ecosystems and species. Nevertheless, and similar to the rest of the global south, the area is comparatively understudied yet exposed to increasing levels of multisectoral pressures. To counteract this, the level of scientific exploration in the Central and South Atlantic has increased in recent years and will likely continue to do so within the context of the United Nations (UN) Decade of Ocean Science for Sustainable Development. Here, we compile the literature to investigate the distribution of previous scientific exploration of offshore (30 m+) ecosystems in the Central and South Atlantic, both within and beyond national jurisdiction, allowing us to synthesise overall patterns of biodiversity. Furthermore, through the lens of sustainable management, we have reviewed the existing anthropogenic activities and associated management measures relevant to the region. Through this exercise, we have identified key knowledge gaps and undersampled regions that represent priority areas for future research and commented on how these may be best incorporated into, or enhanced through, future management measures such as those in discussion at the UN Biodiversity Beyond National Jurisdiction negotiations. This review represents a comprehensive summary for scientists and managers alike looking to understand the key topographical, biological, and legislative features of the Central and South Atlantic

    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

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    In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD), learning difficulties/intellectual disability (ID), behavioral abnormalities, facial dysmorphism and obesity (CHUJANS, OMIM #617991). So far, PHIP alterations appear to be a rare cause of DD/ID. ‚ÄúOmics‚ÄĚ technologies such as exome sequencing or array analyses have led to the identification of distinct types of alterations of PHIP, including, truncating variants, missense substitutions, splice variants and large deletions encompassing portions of the gene or the entire gene as well as adjacent genomic regions. We collected clinical and genetic data of 23 individuals with PHIP-associated Chung-Jansen syndrome (CHUJANS) from all over Europe. Follow-up investigations (e.g. Sanger sequencing, qPCR or Fluorescence-in-situ-Hybridization) and segregation analysis showed either de novo occurrence or inheritance from an also (mildly) affected parent. In accordance with previously described patients, almost all individuals reported here show developmental delay (22/23), learning disability or ID (22/23), behavioral abnormalities (20/23), weight problems (13/23) and characteristic craniofacial features (i.e. large ears/earlobes, prominent eyebrows, anteverted nares and long philtrum (23/23)). To further investigate the facial gestalt of individuals with CHUJANS, we performed facial analysis using the GestaltMatcher approach. By this, we could establish that PHIP patients are indistinguishable based on the type of PHIP alteration (e.g. missense, loss-of-function, splice site) but show a significant difference to the average face of healthy individuals as well as to individuals with Prader-Willi syndrome (PWS, OMIM #176270) or with a CUL4B-alteration (Intellectual developmental disorder, X-linked, syndromic, Cabezas type, OMIM #300354). Our findings expand the mutational and clinical spectrum of CHUJANS. We discuss the molecular and clinical features in comparison to the published individuals. The fact that some variants were inherited from a mildly affected parent further illustrates the variability of the associated phenotype and outlines the importance of a thorough clinical evaluation combined with genetic analyses for accurate diagnosis and counselling

    Barriers and opportunities for implementation of a brief psychological intervention for post-ICU mental distress in the primary care setting ‚Äď results from a qualitative sub-study of the PICTURE trial

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    Impact of elexacaftor/tezacaftor/ivacaftor on lung function, nutritional status, pulmonary exacerbation frequency and sweat chloride in people with cystic fibrosis: real-world evidence from the German CF RegistryResearch in context

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    Summary: Background: Treatment with elexacaftor/tezacaftor/ivacaftor (ETI) improves multiple clinical outcomes in people with cystic fibrosis (pwCF) with at least one F508del allele. This study evaluated the real-world impact of ETI on lung function, nutritional status, pulmonary exacerbation frequency, and sweat chloride concentrations in a large group of pwCF. Methods: This observational cohort study used data from the German CF Registry for pwCF who received ETI therapy and were followed up for a period of 12 months. Findings: The study included 2645 pwCF from 67 centres in Germany (mean age 28.0¬†¬Ī¬†11.5 years). Over the first year after ETI was initiated, percent predicted forced expiratory volume in 1¬†s (ppFEV1) increased by 11.3% (95% confidence interval [CI] 10.8‚Äď11.8, p¬†<¬†0.0001), body mass index (BMI) z-score increased by 0.3 (95% CI 0.3‚Äď0.4, p¬†<¬†0.0001) in individuals aged 12 to <18 years and BMI in adults increased by 1.4¬†kg/m2 (95% CI 1.3‚Äď1.4, p¬†<¬†0.0001), pulmonary exacerbations decreased by 75.9% (p¬†<¬†0.0001) and mean sweat chloride concentration decreased by 50.9¬†mmol/L (95% CI ‚Äď52.6,¬†‚ąí49.3, p¬†<¬†0.0001). Improvements in ppFEV1 over the first year of therapy were greater in pwCF who had not previously received cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy (12.6% [95% CI 11.9‚Äď13.4] vs. 9.7% [95% CI 9.0‚Äď10.5] in those with prior CFTR modulator treatment. Interpretation: These real-world data are consistent with the findings of randomised clinical trials, and support the use of ETI as a highly effective treatment option for pwCF who have at least one F508del allele. Funding: None

    Northernmost (Subarctic) and deepest record of Paleodictyon: paleoecological and biological implications

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    Abstract Paleodictyon is one of the most iconic and widespread of trace fossils in the geological record. However, modern examples are less well known and restricted to deep-sea settings at relatively low latitudes. Here, we report the distribution of Paleodictyon at six abyssal sites near the Aleutian Trench. This study reveals for the first time the presence of Paleodictyon at Subarctic latitudes (51¬į‚Äď53¬įN) and at depths over 4500¬†m, although the traces were not observed at stations deeper than 5000¬†m suggesting that there is some bathymetric constraint for the trace maker. Two small Paleodictyon morphotypes were recognized (average mesh size of 1.81¬†cm), one having a central hexagonal pattern, the other being characterized by a non-hexagonal pattern. Within the study area, Paleodictyon shows no apparent correlation with local environmental parameters. Finally, based on a worldwide morphological comparison, we conclude that the new Paleodictyon specimens represent distinct ichnospecies that are associated with the relatively eutrophic conditions in this region. Their smaller size may reflect this more eutrophic setting in which sufficient food can be obtained from a smaller area in order to satisfy the energetic requirements of the tracemakers. If so, then Paleodictyon size may provide some assistance when interpreting paleoenvironmental conditions

    Novel Variants of <i>SOX4</i> in Patients with Intellectual Disability

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    SOX4 is a transcription factor with pleiotropic functions required for different developmental processes, such as corticogenesis. As with all SOX proteins, it contains a conserved high mobility group (HMG) and exerts its function via interaction with other transcription factors, such as POU3F2. Recently, pathogenic SOX4 variants have been identified in several patients who had clinical features overlapping with Coffin‚ÄďSiris syndrome. In this study, we identified three novel variants in unrelated patients with intellectual disability, two of which were de novo (c.79G>T, p.Glu27*; c.182G>A p.Arg61Gln) and one inherited (c.355C>T, p.His119Tyr). All three variants affected the HMG box and were suspected to influence SOX4 function. We investigated the effects of these variants on transcriptional activation by co-expressing either wildtype (wt) or mutant SOX4 with its co-activator POU3F2 and measuring their activity in reporter assays. All variants abolished SOX4 activity. While our experiments provide further support for the pathogenicity of SOX4 loss-of-function (LOF) variants as a cause of syndromic intellectual disability (ID), our results also indicate incomplete penetrance associated with one variant. These findings will improve classification of novel, putatively pathogenic SOX4 variants

    The SPOC domain is a phosphoserine binding module that bridges transcription machinery with co- and post-transcriptional regulators

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    Here the authors establish the SPOC domain as a universal reader of the RNA Pol II CTD code and a versatile reader of phosphoserine marks found in co- and post-transcriptional regulators such as m6A writer and reader proteins

    Amyloid pathology reduces ELP3 expression and tRNA modifications leading to impaired proteostasis in Alzheimer’s disease models

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    Alzheimer’s Disease (AD) is a progressive and irreversible neurodegenerative disorder, characterized by the accumulation of abeta-amyloid aggregates, which triggers tau hyperphosphorylation and neuronal loss. While the precise mechanisms underlying neurodegeneration in AD are not entirely understood, it is known that loss of proteostasis is implicated in this process. Maintaining neuronal proteostasis requires proper transfer RNA (tRNA) modifications, which are crucial for optimal translation. However, research into tRNA epitranscriptome in AD is limited, and it is not yet clear how alterations in tRNA modifying enzymes and tRNA modifications might contribute to disease progression. Here, we report that expression of the tRNA modifying enzyme ELP3 is reduced in the brain of AD patients and amyloid AD mouse models, suggesting ELP3 is implicated in proteostasis dysregulation observed in AD. To investigate the role of ELP3 specifically in neuronal proteostasis impairments in the context of amyloid pathology, we analyzed SH-SY5Y neuronal cells carrying the amyloidogenic Swedish familial AD mutation in the APP gene (SH-SWE) or the wild-type gene (SH-WT). Similarly to the amyloid mouse models, SH-SWE exhibited reduced levels of ELP3 which was associated with tRNA hypomodifications and reduced abundance, as well as proteostasis impairments. Furthermore, the knock-down of ELP3 in SH-WT recapitulated the proteostasis impairments observed in SH-SWE cells. Importantly, the correction of tRNA deficits due to ELP3 reduction rescued and reverted proteostasis impairments of SH-SWE and SH-WT knock-down for ELP3, respectively. Additionally, SH-WT exposed to the secretome of SH-SWE or synthetic amyloid aggregates recapitulate the SH-SWE phenotype, characterized by reduced ELP3 expression, tRNA hypomodification and increased protein aggregation. Taken together, our data suggest that amyloid pathology dysregulates neuronal proteostasis through the reduction of ELP3 and tRNA modifications. This study highlights the modulation of tRNA modifications as a potential therapeutic avenue to restore neuronal proteostasis in AD and preserve neuronal function
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