862 research outputs found
Elucidating sodium channel NaV1.5 clustering in cardiac myocytes using super-resolution techniques
Combustion dynamics in steady compressible flows
We study the evolution of a reactive field advected by a one-dimensional
compressible velocity field and subject to an ignition-type nonlinearity. In
the limit of small molecular diffusivity the problem can be described by a
spatially discretized system, and this allows for an efficient numerical
simulation. If the initial field profile is supported in a region of size l <
lc one has quenching, i.e., flame extinction, where lc is a characteristic
length-scale depending on the system parameters (reacting time, molecular
diffusivity and velocity field). We derive an expression for lc in terms of
these parameters and relate our results to those obtained by other authors for
different flow settings.Comment: 6 pages, 5 figure
Cephalometric comparisons of Chinese and Caucasian surgical class III patients
published_or_final_versio
Effective age for application of orthopedic maxillary protraction
Abstract no. 1374published_or_final_versio
Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods. A 60-year-old man who played ice hockey into his 50’s was evaluated by electrodiagnostics, muscle biopsy, and molecular genetics. Results. With long-standing pes cavus and toe walking, our patient developed progressive weakness, cramps, memory loss, and paresthesias at age 52. An axonal sensorimotor neuropathy was found upon repeated testing at age 58. Neuropathic histopathology was present in the quadriceps, and exome sequencing revealed the VCP mutation c.290 C>T, p.Gly97Glu. Conclusions. Our patient reflects the clinical heterogeneity of VCP mutations, as his neurological localization is a spectrum between a lower motor neuron disorder and a hereditary axonal peripheral neuropathy such as CMT2. Our case demonstrates a rare manifestation of the c.290 C>T, pGly97Glu VCP mutation
Modeling Galactic Conformity with the Color-Halo Age Relation in the Illustris Simulation
Comparisons between observational surveys and galaxy formation models find
that the mass of dark matter haloes can largely explain galaxies' stellar mass.
However, it remains uncertain whether additional environmental variables,
generally referred to as assembly bias, are necessary to explain other galaxy
properties. We use the Illustris Simulation to investigate the role of assembly
bias in producing galactic conformity by considering 18,000 galaxies with
> . We find a significant signal of
galactic conformity: out to distances of about 10 Mpc, the mean red fraction of
galaxies around redder galaxies is higher than around bluer galaxies at fixed
stellar mass. Dark matter haloes exhibit an analogous conformity signal, in
which the fraction of haloes formed at earlier times (old haloes) is higher
around old haloes than around younger ones at fixed halo mass. A plausible
interpretation of galactic conformity can be given as a combination of the halo
conformity signal with the galaxy color-halo age relation: at fixed stellar
mass, particularly toward the low-mass end, Illustris' galaxy colors correlate
with halo age, with the reddest galaxies (often satellites) being
preferentially found in the oldest haloes. In fact, we can explain the galactic
conformity effect with a simple semi-empirical model, by assigning stellar mass
based on halo mass (abundance matching) and by assigning galaxy color based on
halo age (age matching). We investigate other interpretations for the galactic
conformity, particularly its dependence on the isolation criterion and on the
central-satellite information. Regarding comparison to observations, we
conclude that the adopted selection/isolation criteria, projection effects, and
stacking techniques can have a significant impact on the measured amplitude of
the conformity signal.Comment: 15 pages, 8 figures; accepted for publication in MNRAS (minor
revisions to match accepted version
Baryonic Effects on Lagrangian Clustering and Angular Momentum Reconstruction
Recent studies illustrate the correlation between the angular momenta of cosmic structures and their Lagrangian properties. However, only baryons are observable and it is unclear whether they reliably trace the cosmic angular momenta. We study the Lagrangian mass distribution, spin correlation, and predictability of dark matter, gas, and stellar components of galaxy-halo systems using IllustrisTNG, and show that the primordial segregations between components are typically small. Their protoshapes are also similar in terms of the statistics of moment of inertia tensors. Under the common gravitational potential they are expected to exert the same tidal torque and the strong spin correlations are not destroyed by the nonlinear evolution and complicated baryonic effects, as confirmed by the high-resolution hydrodynamic simulations. We further show that their late-time angular momenta traced by total gas, stars, or the central galaxies, can be reliably reconstructed by the initial perturbations. These results suggest that baryonic angular momenta can potentially be used in reconstructing the parameters and models related to the initial perturbations.Peer reviewe
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease
IMPORTANCE: Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types of CMT to date. OBJECTIVE: To assess the variability of disease severity in a large cohort of children and adolescents with CMT. DESIGN, SETTING, AND PARTICIPANTS: A cross-sectional study was conducted among 520 children and adolescents aged 3 to 20 years at 8 universities and hospitals involved in the Inherited Neuropathies Consortium between August 6, 2009, and July 31, 2014, in Australia, Italy, the United Kingdom, and the United States. Data analysis was conducted from August 1, 2014, to December 1, 2015. MAIN OUTCOMES AND MEASURES: Scores on the Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS), a well-validated unidimensional clinical outcome measure to assess disease severity. This instrument includes 11 items assessing fine and gross motor function, sensation, and balance to produce a total score ranging from 0 (unaffected) to 44 (severely affected). RESULTS: Among the 520 participants (274 males) aged 3 to 20 years, CMT type 1A (CMT1A) was the most prevalent type (252 [48.5%]), followed by CMT2A (31 [6.0%]), CMT1B (15 [2.9%]), CMT4C (13 [2.5%]), and CMTX1 (10 [1.9%]). Disease severity ranged from 1 to 44 points on the CMTPedS (mean [SD], 21.5 [8.9]), with ankle dorsiflexion strength and functional hand dexterity test being most affected. Participants with CMT1B (mean [SD] CMTPedS score, 24.0 [7.4]), CMT2A (29.7 [7.1]), and CMT4C (29.8 [8.6]) were more severely affected than those with CMT1A (18.9 [7.7]) and CMTX1 (males: 15.3 [7.7]; females: 13.0 [3.6]) (P < .05). Scores on the CMTPedS tended to worsen principally during childhood (ages, 3-10 years) for participants with CMT4C and CMTX1 and predominantly during adolescence for those with CMT1B and CMT2A (ages, 11-20 years), while CMT1A worsened consistently throughout childhood and adolescence. For individual items, participants with CMT4C recorded more affected functional dexterity test scores than did those with all other types of CMT (P < .05). Participants with CMT1A and CMTX1 performed significantly better on the 9-hole peg test and balance test than did those with all other types of CMT (P < .05). Participants with CMT2A had the weakest grip strength (P < .05), while those with CMT2A and CMT4C exhibited the weakest ankle plantarflexion and dorsiflexion strength, as well as the lowest long jump and 6-minute walk test distances (P < .05). Multiple regression modeling identified increasing age (r = 0.356, β = 0.617, P < .001) height (r = 0.251, β = 0.309, P = .002), self-reported foot pain (r = 0.162, β = .114, P = .009), and self-reported hand weakness (r = 0.243, β = 0.203, P < .001) as independent predictors of disease severity. CONCLUSIONS AND RELEVANCE: These results highlight the phenotypic variability within CMT genotypes and mutation-specific manifestations between types. This study has identified distinct functional limitations and self-reported impairments to target in future therapeutic trials
- …