599 research outputs found
Isolated eyelid closure myotonia in two families with sodium channel myotonia
Sodium channelopathies (NaCh), as part of the non-dystrophic myotonic syndromes (NDMs), reflect a heterogeneous group of clinical phenotypes accompanied by a generalized myotonia. Because of recent availability of diagnostic genetic testing in NDM, there is a need for identification of clear clinical genotypeâphenotype correlations. This will enable clinicians to distinguish NDMs from myotonic dystrophy, thus allowing them to inform patients promptly about the disease, perform genetic counseling, and orient therapy (Vicart et al. Neurol Sci 26:194â202, 2005). We describe the first distinctive clinical genotypeâphenotype correlation within NaCh: a strictly isolated eyelid closure myotonia associated with the L250P mutation in SCN4A. Using clinical assessment and needle EMG, we identified this genotypeâphenotype correlation in six L250P patients from one NaCh family and confirmed this finding in another, unrelated NaCh family with three L250P patients
Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis
OBJECTIVE: To study serum neurofilament light chain (sNfL) in amyloid light chain (AL) amyloidosis patients with and without polyneuropathy (PNP) and to corroborate previous observations that sNfL is increased in hereditary transthyretin-related (ATTRv) amyloidosis patients with PNP. METHODS: sNfL levels were assessed retrospectively in patients with AL amyloidosis with and without PNP (AL/PNP+âand AL/PNP-, respectively), patients with ATTRv amyloidosis and PNP (ATTRv/PNP+), asymptomatic transthyretin (TTR) gene mutation carriers (TTRv carriers) and healthy controls. Healthy controls (HC) were age- and sex-matched to both AL/PNP- (HC/AL) and TTRv carriers (HC/TTRv). The single-molecule array (Simoa) assay was used to assess sNfL levels. RESULTS: sNfL levels were increased both in 10 AL/PNP+âpatients (pââI) had the highest sNfL levels compared to patients with early PNP (PND-score I) (pâ=â.05). sNfL levels did not differ between TTRv carriers and HC/TTRv individuals. In the group comprising all healthy controls and in the group of TTRv carriers, sNfL levels correlated with age. CONCLUSION: sNfL levels are increased in patients with PNP in both AL and ATTRv amyloidosis and are related to severity of PNP in ATTRv amyloidosis. sNfL is a promising biomarker to detect PNP, not only in ATTRv but also in AL amyloidosis
Ground State Vortex Lattice Structures in d-wave Superconductors
We show in a realistic symmetry gap model for a cuprate
superconductor that the clean vortex lattice has discontinuous structural
transitions (at and near T=0), as a function of the magnetic field along
the c-axis. The transitions arise from the singular nonlocal and anisotropic
susceptibility of the superconductor to the perturbation
caused by supercurrents associated with vortices. The susceptibility, due to
virtual Dirac quasiparticle-hole excitation, is calculated carefully, and leads
to a ground state transition for the triangular lattice from an orientation
along one of the crystal axis to one at 45 to them, i.e, along the gap zero
direction. The field scale is seen to be 5 Tesla , where is the gap maximum, is the
nearest neighbour hopping, is the lattice constant, and is the
flux quantum. At much higher fields () there is a discontinuous
transition to a centred square structure. The source of the differences from
existing calculations, and experimental observability are discussed, the latter
especially in view of the very small (a few degrees per vortex) differences
in the ground state energy.Comment: To be published in Phys. Rev.
The Snedden-Farnsworth Exchanges of 1917 and 1918 on the Value of Music and Art in Education
In 1917 and 1918, Charles Hubert Farnsworth, a leading music educator from Teachers College, Columbia University, and David Snedden, a critic and educational theorist of national repute, privately exchanged views on the role of art and music in society and in education. Snedden mulled over Herbert Spencer's query âWhat knowledge is of most worth?â and concluded that music must have practical survival value: it must contribute primarily to the maintenance of social and political order and secondarily to other aims. Farnsworth, on the other hand, thought that music performance or appreciation should be for the immediate joy that it gives the individual, not for some deferred social purpose no matter how important it might be. These divergent positions are explained in light of Farnsworth's interests in philosophy and Snedden's schooling in Spencerian and Darwinian thought.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/68979/2/10.2307_3345173.pd
Climate adaptation and speciation : particular focus on reproductive barriers in Ficedula flycatchers
Climate adaptation is surprisingly rarely reported as a cause for the build-up of reproductive isolation between diverging populations. In this review, we summarize evidence for effects of climate adaptation on pre- and postzygotic isolation between emerging species with a particular focus on pied (Ficedula hypoleuca) and collared (Ficedula albicollis) flycatchers as a model for research on speciation. Effects of climate adaptation on prezygotic isolation or extrinsic selection against hybrids have been documented in several taxa, but the combined action of climate adaptation and sexual selection is particularly well explored in Ficedula flycatchers. There is a general lack of evidence for divergent climate adaptation causing intrinsic postzygotic isolation. However, we argue that the profound effects of divergence in climate adaptation on the whole biochemical machinery of organisms and hence many underlying genes should increase the likelihood of genetic incompatibilities arising as side effects. Fast temperature-dependent co-evolution between mitochondrial and nuclear genomes may be particularly likely to lead to hybrid sterility. Thus, how climate adaptation relates to reproductive isolation is best explored in relation to fast-evolving barriers to gene flow, while more research on later stages of divergence is needed to achieve a complete understanding of climate-driven speciation.Peer reviewe
The LAGUNA design study- towards giant liquid based underground detectors for neutrino physics and astrophysics and proton decay searches
The feasibility of a next generation neutrino observatory in Europe is being
considered within the LAGUNA design study. To accommodate giant neutrino
detectors and shield them from cosmic rays, a new very large underground
infrastructure is required. Seven potential candidate sites in different parts
of Europe and at several distances from CERN are being studied: Boulby (UK),
Canfranc (Spain), Fr\'ejus (France/Italy), Pyh\"asalmi (Finland),
Polkowice-Sieroszowice (Poland), Slanic (Romania) and Umbria (Italy). The
design study aims at the comprehensive and coordinated technical assessment of
each site, at a coherent cost estimation, and at a prioritization of the sites
within the summer 2010.Comment: 5 pages, contribution to the Workshop "European Strategy for Future
Neutrino Physics", CERN, Oct. 200
Optimized Trigger for Ultra-High-Energy Cosmic-Ray and Neutrino Observations with the Low Frequency Radio Array
When an ultra-high energy neutrino or cosmic ray strikes the Lunar surface a
radio-frequency pulse is emitted. We plan to use the LOFAR radio telescope to
detect these pulses. In this work we propose an efficient trigger
implementation for LOFAR optimized for the observation of short radio pulses.Comment: Submitted to Nuclear Instruments and Methods in Physics Research
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Rethinking classic starling displacement experiments : evidence for innate or for learned migratory directions?
Funding for the present work came from the Spinoza Premium 2014 awarded to TP by the Netherlands Organization for Scientific Research (NWO), with supplementary funding from an anonymous donor, the Gieskes-Strijbis Fonds and the Ubbo Emmius Fonds of the University of Groningen. TO was supported by Rubicon a grant from NWO (ref. 019.172EN.011)In an attempt to encourage the discourse on sources of individual variation in seasonal migration patterns and the microevolution of bird migration, we here critically examine the published interpretations of a now classic displacement study with starlings Sturnus vulgaris. Based on the ring recoveries after experimental displacement towards the south and southeast of Dutch capture sites of over 18 000 hatchâyear and older starlings, in a series of analyses published in Ardea from 1958 to 1983, A. C. Perdeck established that displaced starlings showed appropriately changed orientations only when they were experienced. During both southward and northward migration, released adults navigated to an apparently previously learned goal (i.e. the wintering or the breeding area) by showing appropriately changed orientations. Juveniles showed appropriate directions when returning to the breeding grounds. In contrast, during their first southward migration displaced juveniles carried on in the direction (and possibly the distance) expected for their release at the Dutch capture site. From the midâ1970s this work has become cited as evidence for starlings demonstrating âinnateâ migratory directions. If the definition of innateness is ânot learned by the individual itselfâ, then there is a range of nonâinnate influences on development that are not ruled out by Perdeck's experimental outcomes. For example, young starlings might have carried on in the direction that they learned to migrate before being caught, e.g. by observing the migratory directions of experienced conspecifics. We argue that, despite over 60 citations to Perdeck as demonstrating innate migratory directions, the jury is out.Publisher PDFPeer reviewe
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