Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal ...phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K(+) channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative shifts in voltage-dependent activation for all but one KCNH1 channel mutant (Gly469Arg). Coexpression of Gly469Arg with wild-type KCNH1 resulted in heterotetrameric channels with reduced conductance at positive potentials but pronounced conductance at negative potentials. These data support a gain-of-function effect for all ZLS-associated KCNH1 mutants. We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. Structural analysis predicts a perturbing effect of the mutation on complex assembly. Our findings demonstrate that KCNH1 mutations cause ZLS and document genetic heterogeneity for this disorder.
In the run up to routine observations with the upcoming generation of radio facilities, the nature of sub-mJy radio population has been hotly debated. Here, we describe multi-frequency data designed ...to probe the emission mechanism that dominates in these faint radio sources. Our analysis is based on observations of the Lockman Hole using the Giant Metrewave Radio Telescope (GMRT) – the deepest 610-MHz imaging yet reported – together with 1.4-GHz imaging from the Very Large Array (VLA), well matched in resolution and sensitivity to the GMRT data: σ610 MHz∼ 15 μJy beam−1, σ1.4 GHz∼ 6 μJy beam−1, full width at half-maximum (FWHM) ∼ 5 arcsec. The GMRT and VLA data are cross-matched to obtain the radio spectral indices for the faint radio emitters. Statistical analyses show no clear evolution for the median spectral index, α610 MHz1.4 GHz (where Sν∝να), as a function of flux density. α610 MHz1.4 GHz is found to be approximately −0.6 to −0.7, based on an almost unbiased 10σ criterion, down to a flux level of S1.4 GHz≳ 100 μJy. The fraction of inverted spectrum sources (α610 MHz1.4 GHz > 0) is less than 10 per cent. The results suggest that the most prevalent emission mechanism in the sub-mJy regime is optically thin synchrotron, ruling out a dominant flat spectrum or ultra-steep spectrum radio population. The spectral index distribution has a significant scatter, Δα≈ 0.4–0.5, which suggests a mixture of different populations at all flux levels. Spectroscopic classification of radio sources with X-ray emission has allowed us to estimate that the fraction of radio-quiet active galactic nuclei (AGN) at 30 μJy ≲S1.4 GHz < 300 μJy is roughly 25 ± 10 per cent, suggesting that star-forming galaxies dominate the sub-mJy regime.
The Giant Metrewave Radio Telescope (GMRT) is today a frontline international facility for low-frequency radio astronomy, that has produced several exciting and important new results in the 15 years ...that it has been operational. To keep the GMRT competitive in the global arena in the future, a major upgrade of the observatory is nearing completion that will increase its sensitivity by up to three times and make it a more powerful and versatile facility. We describe the main goals of this upgrade, highlight the technical features and challenges, outline the science potential and update the current status of this venture.
This roadmap consensus article defines the limits of luminal imaging and highlights the current evidence supporting the role of plaque imaging.
Current guidelines for primary and secondary prevention ...of stroke in patients with carotid atherosclerosis are based on the quantification of the degree of stenosis and symptom status. Recent publications have demonstrated that plaque morphology and composition, independent of the degree of stenosis, are important in the risk stratification of carotid atherosclerotic disease. This finding raises the question as to whether current guidelines are adequate or if they should be updated with new evidence, including imaging for plaque phenotyping, risk stratification, and clinical decision-making in addition to the degree of stenosis. To further this discussion, this roadmap consensus article defines the limits of luminal imaging and highlights the current evidence supporting the role of plaque imaging. Furthermore, we identify gaps in current knowledge and suggest steps to generate high-quality evidence, to add relevant information to guidelines currently based on the quantification of stenosis.
Aims. We report on a spectral study at radio frequencies of the giant radio halo in A 2142 (z = 0.0909), which we performed to explore its nature and origin. The optical and X-ray properties of the ...cluster suggest that A 2142 is not a major merger and the presence of a giant radio halo is somewhat surprising. Methods. We performed deep radio observations of A 2142 with the Giant Metrewave Radio Telescope (GMRT) at 608 MHz, 322 MHz, and 234 MHz and with the Very Large Array (VLA) in the 1–2 GHz band. We obtained high-quality images at all frequencies in a wide range of resolutions, from the galaxy scale, i.e. ~5′′, up to ~60′′ to image the diffuse cluster–scale emission. The radio halo is well detected at all frequencies and extends out to the most distant cold front in A 2142, about 1 Mpc away from the cluster centre. We studied the spectral index in two regions: the central part of the halo, where the X–ray emission peaks and the two brightest dominant galaxies are located; and a second region, known as the ridge (in the direction of the most distant south–eastern cold front), selected to follow the bright part of the halo and X-ray emission. We complemented our deep observations with a preliminary LOw Frequency ARray (LOFAR) image at 118 MHz and with the re-analysis of archival VLA data at 1.4 GHz. Results. The two components of the radio halo show different observational properties. The central brightest part has higher surface brightess and a spectrum whose steepness is similar to those of the known radio halos, i.e. α1.78 GHz118 MHz = 1.33 ± 0.08 . The ridge, which fades into the larger scale emission, is broader in size and has considerably lower surface brightess and a moderately steeper spectrum, i.e. α1.78 GHz118 MHz ~ 1.5. We propose that the brightest part of the radio halo is powered by the central sloshing in A 2142, in a process similar to what has been suggested for mini-halos, or by secondary electrons generated by hadronic collisions in the ICM. On the other hand, the steeper ridge may probe particle re-acceleration by turbulence generated either by stirring the gas and magnetic fields on a larger scale or by less energetic mechanisms, such as continuous infall of galaxy groups or an off-axis (minor) merger.
We report the results of a multiwavelength study of the nearby galaxy group, Abell 3581 (z = 0.0218). This system hosts the most luminous cool core of any nearby group and exhibits active radio mode ...feedback from the supermassive black hole in its brightest group galaxy, IC 4374. The brightest galaxy has suffered multiple active galactic nucleus outbursts, blowing bubbles into the surrounding hot gas, which have resulted in the uplift of cool ionized gas into the surrounding hot intragroup medium. High velocities, indicative of an outflow, are observed close to the nucleus and coincident with the radio jet. Thin dusty filaments accompany the uplifted, ionized gas. No extended star formation is observed; however, a young cluster is detected just north of the nucleus. The direction of rise of the bubbles has changed between outbursts. This directional change is likely due to sloshing motions of the intragroup medium. These sloshing motions also appear to be actively stripping the X-ray cool core, as indicated by a spiralling cold front of high-metallicity, low-temperature, low entropy gas.
Horticultural produce are stored at lower temperature because of their highly perishable nature. There are many methods to cool the environment. Hence, preserving these types of foods in their fresh ...form demands that the chemical, bio-chemical and physiological changes are restricted to a minimum by close control of space temperature and humidity. The high cost involved in developing cold storage or controlled atmosphere storage is a pressing problem in several developing countries. Evaporative cooling is a well-known system to be an efficient and economical means for reducing the temperature and increasing the relative humidity in an enclosure and this effect has been extensively tried for increasing the shelf life of horticultural produce in some tropical and subtropical countries. In this review paper, basic concept and principle, methods of evaporative cooling and their application for the preservation of fruits and vegetables and economy are also reported. Thus, the evaporative cooler has prospect for use for short term preservation of vegetables and fruits soon after harvest. Zero energy cooling system could be used effectively for short-duration storage of fruits and vegetables even in hilly region. It not only reduces the storage temperature but also increases the relative humidity of the storage which is essential for maintaining the freshness of the commodities.
Summary Background Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the ...genetic basis of this syndrome by sequencing most coding exons in affected individuals. Methods Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the DOORS syndrome: deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. Participants were recruited from 26 centres in 17 countries. Families described in this study were enrolled between Dec 1, 2010, and March 1, 2013. Collaborating physicians enrolling participants obtained clinical information and DNA samples from the affected child and both parents if possible. We did whole-exome sequencing in affected individuals as they were enrolled, until we identified a candidate gene, and Sanger sequencing to confirm mutations. We did expression studies in human fibroblasts from one individual by real-time PCR and western blot analysis, and in mouse tissues by immunohistochemistry and real-time PCR. Findings 26 families were included in the study. We did exome sequencing in the first 17 enrolled families; we screened for TBC1D24 by Sanger sequencing in subsequent families. We identified TBC1D24 mutations in 11 individuals from nine families (by exome sequencing in seven families, and Sanger sequencing in two families). 18 families had individuals with all five main features of DOORS syndrome, and TBC1D24 mutations were identified in half of these families. The seizure types in individuals with TBC1D24 mutations included generalised tonic-clonic, complex partial, focal clonic, and infantile spasms. Of the 18 individuals with DOORS syndrome from 17 families without TBC1D24 mutations, eight did not have seizures and three did not have deafness. In expression studies, some mutations abrogated TBC1D24 mRNA stability. We also detected Tbc1d24 expression in mouse phalangeal chondrocytes and calvaria, which suggests a role of TBC1D24 in skeletogenesis. Interpretation Our findings suggest that mutations in TBC1D24 seem to be an important cause of DOORS syndrome and can cause diverse phenotypes. Thus, individuals with DOORS syndrome without deafness and seizures but with the other features should still be screened for TBC1D24 mutations. More information is needed to understand the cellular roles of TBC1D24 and identify the genes responsible for DOORS phenotypes in individuals who do not have a mutation in TBC1D24. Funding US National Institutes of Health, the CIHR (Canada), the NIHR (UK), the Wellcome Trust, the Henry Smith Charity, and Action Medical Research.
Context.
Massive merging galaxy clusters often host diffuse megaparsec-scale radio synchrotron emission. This emission originates from relativistic electrons in the ionized intracluster medium. An ...important question is how these synchrotron emitting relativistic electrons are accelerated.
Aims.
Our aim is to search for diffuse emission in the Frontier Fields clusters Abell S1063 and Abell 370 and characterize its properties. While these clusters are very massive and well studied at some other wavelengths, no diffuse emission has been reported for these clusters so far.
Methods.
We obtained 325 MHz Giant Metrewave Radio Telescope (GMRT) and 1–4 GHz
Jansky
Very Large Array (VLA) observations of Abell S1063 and Abell 370. We complement these data with
Chandra
and
XMM-Newton
X-ray observations.
Results.
In our sensitive images, we discover radio halos in both clusters. In Abell S1063, a giant radio halo is found with a size of ∼1.2 Mpc. The integrated spectral index between 325 MHz and 1.5 GHz is −0.94 ± 0.08 and it steepens to −1.77 ± 0.20 between 1.5 and 3.0 GHz. This spectral steepening provides support for the turbulent reacceleration model for radio halo formation. Abell 370 hosts a faint radio halo mostly centered on the southern part of this binary merging cluster, with a size of ∼500−700 kpc. The spectral index between 325 MHz and 1.5 GHz is −1.10 ± 0.09. Both radio halos follow the known scaling relation between the cluster mass proxy
Y
500
and radio power, which is consistent with the idea that they are related to ongoing cluster merger events.
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