3,271 research outputs found
Clinical and Genomic Profile of Primary Cranial Neurolymphomatosis
Primary cranial neurolymphomatosis (PCNL) is a rare subtype of primary CNS lymphoma (PCNSL) in which infiltrative lymphomatous involvement is confined to cranial nerves. Here, we report a case of PCNL with successful genomic profiling. A 57-year-old male had a lengthy prediagnostic phase spanning approximately 30 months, characterized by multiple episodes of cranial neuropathies managed by steroids. At the time of diagnosis, the patient had right-sided cranial neuropathies involving cranial nerves (CN) V, VI, and VII. Pathological findings of the right cavernous lesion biopsy were consistent with large B-cell lymphoma-infiltrating nerve fibers. The clinical course was aggressive and refractory, characterized by relentless progression with the development of cervical spinal neurolymphomatosis, cerebrospinal fluid involvement, and ependymal and intraparenchymal cerebral involvement, despite multiple lines of therapy, including chemoimmunotherapy, Bruton\u27s tyrosine kinase inhibitor, radiation, autologous stem cell transplant, chimeric antigen receptor T-cell therapy (CAR-T), and whole-brain radiation. The patient survived for 22 months from the time of the initial diagnosis and 52 months after the first episode of cranial neuropathy. Next-generation sequencing identified mutations (MYD88, CD79b, and PIM1) that are frequently observed in PCNSL. The unusual findings included a total of 22 mutations involving PIM1, indicating a highly active aberrant somatic hypermutation and two missense CXCR4 mutations. CXCR4 mutations have never been described in PCNSL and may have implications for disease biology and therapeutic interventions. We provide a literature review to further elucidate PCNL
Multiple component remediation of developmental reading disabilities: A Controlled factorial evaluation of the influence of IQ, socioeconomic status, and race on outcomes
Results from a controlled evaluation of remedial reading interventions are reported: 279 young disabled readers were randomly assigned to a program according to a 2 × 2 × 2 factorial design (IQ, socioeconomic status [SES], and race). The effectiveness of two multiple-component intervention programs for children with reading disabilities (PHAB + RAVE-O; PHAB + WIST) was evaluated against alternate (CSS, MATH) and phonological control programs. Interventions were taught an hour daily for 70 days on a 1:4 ratio at three different sites. Multiple-component programs showed significant improvements relative to control programs on all basic reading skills after 70 hours and at 1-year follow-up. Equivalent gains were observed for different racial, SES, and IQ groups. These factors did not systematically interact with program. Differential outcomes for word identification, fluency, comprehension, and vocabulary were found between the multidimensional pro- grams, although equivalent long-term outcomes and equal continued growth confirmed that different pathways exist to effective reading remediation
Galactic structure from the Calar Alto Deep Imaging Survey (CADIS)
We used 1627 faint (15.5< R<23) stars in five fields of the Calar Alto Deep
Imaging Survey (CADIS) to estimate the structure parameters of the Galaxy. The
results were derived by applying two complementary methods: first by fitting
the density distribution function to the measured density of stars
perpendicular to the Galactic plane, and second by modelling the observed
colors and apparent magnitudes of the stars in the field, using Monte Carlo
simulations. The best-fitting model of the Galaxy is then determined by
minimising the C-statistic, a modified chisquared. Our model includes a double
exponential for the stellar disk with scaleheights h_1 and h_2 and a power law
halo with exponent alpha. 24480 different parameter combinations have been
simulated. Both methods yield consistent results: the best fitting parameter
combination is alpha=3.0 (or alpha=2.5, if we allow for a flattening of the
halo with an axial ratio of (c/a)=0.6), h_1=300 pc, h_2=900 pc, and the
contribution of thick disk stars to the disk stars in the solar neighbourhood
is found to be between 4 and 10%.Comment: 16 pages, 10 figures, submitted to Astronomy and Astrophysic
Two neuroanatomical signatures in schizophrenia: Expression strengths over the first 2 years of treatment and their relationships to neurodevelopmental compromise and antipsychotic treatment
BACKGROUND AND HYPOTHESIS: Two machine learning derived neuroanatomical signatures were recently described. Signature 1 is associated with widespread grey matter volume reductions and signature 2 with larger basal ganglia and internal capsule volumes. We hypothesized that they represent the neurodevelopmental and treatment-responsive components of schizophrenia respectively.
STUDY DESIGN: We assessed the expression strength trajectories of these signatures and evaluated their relationships with indicators of neurodevelopmental compromise and with antipsychotic treatment effects in 83 previously minimally treated individuals with a first episode of a schizophrenia spectrum disorder who received standardized treatment and underwent comprehensive clinical, cognitive and neuroimaging assessments over 24 months. Ninety-six matched healthy case-controls were included.
STUDY RESULTS: Linear mixed effect repeated measures models indicated that the patients had stronger expression of signature 1 than controls that remained stable over time and was not related to treatment. Stronger signature 1 expression showed trend associations with lower educational attainment, poorer sensory integration, and worse cognitive performance for working memory, verbal learning and reasoning and problem solving. The most striking finding was that signature 2 expression was similar for patients and controls at baseline but increased significantly with treatment in the patients. Greater increase in signature 2 expression was associated with larger reductions in PANSS total score and increases in BMI and not associated with neurodevelopmental indices.
CONCLUSIONS: These findings provide supporting evidence for two distinct neuroanatomical signatures representing the neurodevelopmental and treatment-responsive components of schizophrenia
ESO Imaging Survey. The Stellar Catalogue in the Chandra Deep Field South
(abridged) Stellar catalogues in five passbands (UBVRI) over an area of
approximately 0.3 deg^2, comprising about 1200 objects, and in seven passbands
(UBVRIJK) over approximately 0.1 deg^2, comprising about 400 objects, in the
direction of the Chandra Deep Field South are presented.
The 90% completeness level of the number counts is reached at approximately U
= 23.8, B = 24.0, V = 23.5, R = 23.0, I = 21.0, J = 20.5, K = 19.0.
A scheme is presented to select point sources from these catalogues, by
combining the SExtractor parameter CLASS_STAR from all available passbands.
Probable QSOs and unresolved galaxies are identified by using the previously
developed \chi^2-technique (Hatziminaoglou et al 2002), that fits the overall
spectral energy distributions to template spectra and determines the best
fitting template.
The observed number counts, colour-magnitude diagrams, colour-colour diagrams
and colour distributions are presented and, to judge the quality of the data,
compared to simulations based on the predictions of a Galactic Model convolved
with the estimated completeness functions and the error model used to describe
the photometric errors of the data.
The resulting stellar catalogues and the objects identified as likely QSOs
and unresolved galaxies with coordinates, observed magnitudes with errors and
assigned spectral types by the -technique are presented and are
publicly available.Comment: Paper as it will appear in print. Complete figures and tables can be
obtained from: http://www.eso.org/science/eis/eis_pub/eis_pub.html. Astronomy
& Astrophysics, accepted for publicatio
Bicontinuous minimal surface nanostructures for polymer blend solar cells
This paper presents the first examination of the potential for bicontinuous structures such as the gyroid structure to produce high efficiency solar cells based on conjugated polymers. The solar cell characteristics are predicted by a simulation model that shows how the morphology influences device performance through integration of all the processes occurring in organic photocells in a specified morphology. In bicontinuous phases, the surface de. ning the interface between the electron and hole transporting phases divides the volume into two disjoint subvolumes. Exciton loss is reduced because the interface at which charge separation occurs permeates the device so excitons have only a short distance to reach the interface. As each of the component phases is connected, charges will be able to reach the electrodes more easily. In simulations of the current-voltage characteristics of organic cells with gyroid, disordered blend and vertical rod (rods normal to the electrodes) morphologies, we find that gyroids have a lower than anticipated performance advantage over disordered blends, and that vertical rods are superior. These results are explored thoroughly, with geminate recombination, i.e. recombination of charges originating from the same exciton, identified as the primary source of loss. Thus, if an appropriate materials choice could reduce geminate recombination, gyroids show great promise for future research and applications
Increased insolation threshold for runaway greenhouse processes on Earth like planets
Because the solar luminosity increases over geological timescales, Earth
climate is expected to warm, increasing water evaporation which, in turn,
enhances the atmospheric greenhouse effect. Above a certain critical
insolation, this destabilizing greenhouse feedback can "runaway" until all the
oceans are evaporated. Through increases in stratospheric humidity, warming may
also cause oceans to escape to space before the runaway greenhouse occurs. The
critical insolation thresholds for these processes, however, remain uncertain
because they have so far been evaluated with unidimensional models that cannot
account for the dynamical and cloud feedback effects that are key stabilizing
features of Earth's climate. Here we use a 3D global climate model to show that
the threshold for the runaway greenhouse is about 375 W/m, significantly
higher than previously thought. Our model is specifically developed to quantify
the climate response of Earth-like planets to increased insolation in hot and
extremely moist atmospheres. In contrast with previous studies, we find that
clouds have a destabilizing feedback on the long term warming. However,
subsident, unsaturated regions created by the Hadley circulation have a
stabilizing effect that is strong enough to defer the runaway greenhouse limit
to higher insolation than inferred from 1D models. Furthermore, because of
wavelength-dependent radiative effects, the stratosphere remains cold and dry
enough to hamper atmospheric water escape, even at large fluxes. This has
strong implications for Venus early water history and extends the size of the
habitable zone around other stars.Comment: Published in Nature. Online publication date: December 12, 2013.
Accepted version before journal editing and with Supplementary Informatio
A Keck/DEIMOS spectroscopic survey of the faint M31 satellites And IX, And XI, And XII, and And XIII
We present the first spectroscopic analysis of the faint M31 satellite
galaxies, AndXI and AndXIII, and a reanalysis of existing spectroscopic data
for two further faint companions, And IX and AndXII. By combining data obtained
using the DEIMOS spectrograph mounted on the Keck II telescope with deep
photometry from the Suprime-Cam instrument on Subaru, we have calculated global
properties for the dwarfs, such as systemic velocities, metallicites and
half-light radii.We find each dwarf to be very metal poor ([Fe/H] -2 both
photometrically and spectroscopically, from their stacked spectrum), and as
such, they continue to follow the luminosity-metallicity relationship
established with brighter dwarfs. We are unable to resolve a dispersion for And
XI due to small sample size and low S/N, but we set a one sigma upper limit of
sigma-v <5 km/s. For And IX, And XII and And XIII we resolve velocity
dispersions of v=4.5 (+3.4,-3.2), 2.6(+5.1,-2.6) and 9.7(+8.9,-4.5) km/s, and
derive masses within the half light radii of 6.2(+5.3,-5.1)x10^6 Msun, 2.4
(+6.5,-2.4)x10^6 Msun and 1.1(+1.4,-0.7)x10^7 Msun respectively. We discuss
each satellite in the context of the Mateo relations for dwarf spheroidal
galaxies, and the Universal halo profiles established for Milky Way dwarfs
(Walker et al. 2009). For both galaxies, this sees them fall below the
Universal halo profiles of Walker et al. (2009). When combined with the
findings of McConnachie & Irwin (2006a), which reveal that the M31 satellites
are twice as extended (in terms of both half-light and tidal radii) as their
Milky Way counterparts, these results suggest that the satellite population of
the Andromeda system could inhabit halos that are significantly different from
those of the Milky Way in terms of their central densities (abridged).Comment: 26 pages, 18 figures, MNRAS submitte
Host‐derived population genomics data provides insights into bacterial and diatom composition of the killer whale skin
Recent exploration into the interactions and relationship between hosts and their microbiota has revealed a connection between many aspects of the host's biology, health and associated micro-organisms. Whereas amplicon sequencing has traditionally been used to characterize the microbiome, the increasing number of published population genomics data sets offers an underexploited opportunity to study microbial profiles from the host shotgun sequencing data. Here, we use sequence data originally generated from killer whale Orcinus orca skin biopsies for population genomics, to characterize the skin microbiome and investigate how host social and geographical factors influence the microbial community composition. Having identified 845 microbial taxa from 2.4 million reads that did not map to the killer whale reference genome, we found that both ecotypic and geographical factors influence community composition of killer whale skin microbiomes. Furthermore, we uncovered key taxa that drive the microbiome community composition and showed that they are embedded in unique networks, one of which is tentatively linked to diatom presence and poor skin condition. Community composition differed between Antarctic killer whales with and without diatom coverage, suggesting that the previously reported episodic migrations of Antarctic killer whales to warmer waters associated with skin turnover may control the effects of potentially pathogenic bacteria such as Tenacibaculum dicentrarchi. Our work demonstrates the feasibility of microbiome studies from host shotgun sequencing data and highlights the importance of metagenomics in understanding the relationship between host and microbial ecology
- …