372 research outputs found
Direct characterisation of tuneable few-femtosecond dispersive-wave pulses in the deep UV
Dispersive wave emission (DWE) in gas-filled hollow-core dielectric
waveguides is a promising source of tuneable coherent and broadband radiation,
but so far the generation of few-femtosecond pulses using this technique has
not been demonstrated. Using in-vacuum frequency-resolved optical gating, we
directly characterise tuneable 3fs pulses in the deep ultraviolet generated via
DWE. Through numerical simulations, we identify that the use of a pressure
gradient in the waveguide is critical for the generation of short pulses.Comment: 5 pages, 4 figure
The Contaminated Sediment Remediation Challenge: Complicated Problems that Require Interdisciplinary and Creative Solutions
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Despite being a canonical presenting feature of mitochondrial disease, the genetic basis of progressive external ophthalmoplegia remains unknown in a large proportion of patients. Here we show that mutations in SPG7 are a novel cause of progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions. After excluding known causes, whole exome sequencing, targeted Sanger sequencing and multiplex ligation-dependent probe amplification analysis were used to study 68 adult patients with progressive external ophthalmoplegia either with or without multiple mitochondrial DNA deletions in skeletal muscle. Nine patients (eight probands) were found to carry compound heterozygous SPG7 mutations, including three novel mutations: two missense mutations c.2221G>A; p.(Glu741Lys), c.2224G>A; p.(Asp742Asn), a truncating mutation c.861dupT; p.Asn288*, and seven previously reported mutations. We identified a further six patients with single heterozygous mutations in SPG7, including two further novel mutations: c.184-3C>T (predicted to remove a splice site before exon 2) and c.1067C>T; p.(Thr356Met). The clinical phenotype typically developed in mid-adult life with either progressive external ophthalmoplegia/ptosis and spastic ataxia, or a progressive ataxic disorder. Dysphagia and proximal myopathy were common, but urinary symptoms were rare, despite the spasticity. Functional studies included transcript analysis, proteomics, mitochondrial network analysis, single fibre mitochondrial DNA analysis and deep re-sequencing of mitochondrial DNA. SPG7 mutations caused increased mitochondrial biogenesis in patient muscle, and mitochondrial fusion in patient fibroblasts associated with the clonal expansion of mitochondrial DNA mutations. In conclusion, the SPG7 gene should be screened in patients in whom a disorder of mitochondrial DNA maintenance is suspected when spastic ataxia is prominent. The complex neurological phenotype is likely a result of the clonal expansion of secondary mitochondrial DNA mutations modulating the phenotype, driven by compensatory mitochondrial biogenesis
Recommended from our members
Decadal predictions of the cooling and freshening of the North Atlantic in the 1960s and the role of ocean circulation
In the 1960s North Atlantic sea surface temperatures (SST) cooled rapidly. The magnitude of the cooling was largest in the North Atlantic subpolar gyre (SPG), and was coincident with a rapid freshening of the SPG. Here we analyze hindcasts of the 1960s North Atlantic cooling made with the UK Met Office’s decadal prediction system (DePreSys), which is initialised using observations. It is shown that DePreSys captures—with a lead time of several years—the observed cooling and freshening of the North Atlantic SPG. DePreSys also captures changes in SST over the wider North Atlantic and surface climate impacts over the wider region, such as changes in atmospheric circulation in winter and sea ice extent. We show that initialisation of an anomalously weak Atlantic Meridional Overturning Circulation (AMOC), and hence weak northward heat transport, is crucial for DePreSys to predict the magnitude of the observed cooling. Such an anomalously weak AMOC is not captured when ocean observations are not assimilated (i.e. it is not a forced response in this model). The freshening of the SPG is also dominated by ocean salt transport changes in DePreSys; in particular, the simulation of advective freshwater anomalies analogous to the Great Salinity Anomaly were key. Therefore, DePreSys suggests that ocean dynamics played an important role in the cooling of the North Atlantic in the 1960s, and that this event was predictable
The role of anthropogenic habitats in freshwater mussel conservation
Anthropogenic freshwater habitats may provide undervalued prospects for long-term conservation as part of species conservation planning. This fundamental, but overlooked, issue requires attention considering the pace that humans have been altering natural freshwater ecosystems and the accelerated levels of biodiversity decline in recent decades. We compiled 709 records of freshwater mussels (Bivalvia, Unionida) inhabiting a broad variety of anthropogenic habitat types (from small ponds to large reservoirs and canals) and reviewed their importance as refuges for this faunal group. Most records came from Europe and North America, with a clear dominance of canals and reservoirs. The dataset covered 228 species, including 34 threatened species on the IUCN Red List. We discuss the conservation importance and provide guidance on how these anthropogenic habitats could be managed to provide optimal conservation value to freshwater mussels. This review also shows that some of these habitats may function as ecological traps owing to conflicting management practices or because they act as a sink for some populations. Therefore, anthropogenic habitats should not be seen as a panacea to resolve conservation problems. More information is necessary to better understand the trade-offs between human use and the conservation of freshwater mussels (and other biota) within anthropogenic habitats, given the low number of quantitative studies and the strong biogeographic knowledge bias that persists.This publication is based upon work from COST Action CA18239,
supported by COST (European Cooperation in Science and
Technology). A.M.L. was financed by the Institute of Environmental
Sciences Jagiellonian University (N18/DBS/000003) and K.N.
by the Aragón Government. The authors acknowledge Jarosław
Andrzejewski, Bartosz Czader, Anna Fica, Marcin Horbacz,
Tomasz Jonderko, Steinar Kålås, Tomasz Kapela, Bjørn Mejdell
Larsen, Maciej Pabijan, Katarzyna Pawlik, Ilona Popławska, Joanna
Przybylska, Tomasz Przybył, Mateusz Rybak, Kjell Sandaas, Jarosław
Słowikowski, Tomasz Szczasny, Michał Zawadzki and Paweł Zowada
for providing detailed information on specific examples concerning
freshwater mussels in anthropogenic habitats. We thank the editor
and two anonymous referees for the valuable suggestions made,
which increased the clarity of our manuscript.info:eu-repo/semantics/publishedVersio
Emerging infectious disease implications of invasive mammalian species : the greater white-toothed shrew (Crocidura russula) is associated with a novel serovar of pathogenic Leptospira in Ireland
The greater white-toothed shrew (Crocidura russula) is an invasive mammalian species that was first recorded in Ireland in 2007. It currently occupies an area of approximately 7,600 km2 on the island. C. russula is normally distributed in Northern Africa and Western Europe, and was previously absent from the British Isles. Whilst invasive species can have dramatic and rapid impacts on faunal and floral communities, they may also be carriers of pathogens facilitating disease transmission in potentially naive populations. Pathogenic leptospires are endemic in Ireland and a significant cause of human and animal disease. From 18 trapped C. russula, 3 isolates of Leptospira were cultured. However, typing of these isolates by standard serological reference methods was negative, and suggested an, as yet, unidentified serovar. Sequence analysis of 16S ribosomal RNA and secY indicated that these novel isolates belong to Leptospira alstonii, a unique pathogenic species of which only 7 isolates have been described to date. Earlier isolations were limited geographically to China, Japan and Malaysia, and this leptospiral species had not previously been cultured from mammals. Restriction enzyme analysis (REA) further confirms the novelty of these strains since no similar patterns were observed with a reference database of leptospires. As with other pathogenic Leptospira species, these isolates contain lipL32 and do not grow in the presence of 8-azagunaine; however no evidence of disease was apparent after experimental infection of hamsters. These isolates are genetically related to L. alstonii but have a novel REA pattern; they represent a new serovar which we designate as serovar Room22. This study demonstrates that invasive mammalian species act as bridge vectors of novel zoonotic pathogens such as Leptospira
TIC 168789840: A Sextuply-Eclipsing Sextuple Star System
We report the discovery of a sextuply-eclipsing sextuple star system from
TESS data, TIC 168789840, also known as TYC 7037-89-1, the first known sextuple
system consisting of three eclipsing binaries. The target was observed in
Sectors 4 and 5 during Cycle 1, with lightcurves extracted from TESS Full Frame
Image data. It was also previously observed by the WASP survey and ASAS-SN. The
system consists of three gravitationally-bound eclipsing binaries in a
hierarchical structure of an inner quadruple system with an outer binary
subsystem. Follow-up observations from several different observatories were
conducted as a means of determining additional parameters. The system was
resolved by speckle interferometry with a 0."42 separation between the inner
quadruple and outer binary, inferring an estimated outer period of ~2 kyr. It
was determined that the fainter of the two resolved components is an 8.217 day
eclipsing binary, which orbits the inner quadruple that contains two eclipsing
binaries with periods of 1.570 days and 1.306 days. MCMC analysis of the
stellar parameters has shown that the three binaries of TIC 168789840 are
"triplets", as each binary is quite similar to the others in terms of mass,
radius, and Teff. As a consequence of its rare composition, structure, and
orientation, this object can provide important new insight into the formation,
dynamics, and evolution of multiple star systems. Future observations could
reveal if the intermediate and outer orbital planes are all aligned with the
planes of the three inner eclipsing binaries
- …