Pollitt syndrome patients carry mutation in TTDN1

Complete human genome sequencing was used to identify the causative mutation in a family with Pollitt syndrome (MIM #. 275550), comprising two non-consanguineous parents and their two affected children. The patient's symptoms were reminiscent of the non-photosensitive form of recessively inherited trichothiodystrophy (TTD). A mutation in the TTDN1/. C7orf11 gene, a gene that is known to be involved in non-photosensitive TTD, had been excluded by others by Sanger sequencing. Unexpectedly, we did find a homozygous single-base pair deletion in the coding region of this gene, a mutation that is known to cause non-photosensitive TTD. The deleterious variant causing a frame shift at amino acid 93 (C326delA) followed the right mode of inheritance in the family and was independently validated using conventional DNA sequencing. We expect this novel DNA sequencing technology to help redefine phenotypic and genomic variation in patients with (mono) genetic disorders in an unprecedented manner

SIMULTANEOUS OBSERVATIONS of GIANT PULSES from the CRAB PULSAR, with the MURCHISON WIDEFIELD ARRAY and PARKES RADIO TELESCOPE: IMPLICATIONS for the GIANT PULSE EMISSION MECHANISM

We report on observations of giant pulses from the Crab pulsar performed simultaneously with the Parkes radio telescope and the incoherent combination of the Murchison Widefield Array (MWA) antenna tiles. The observations were performed over a duration of approximately one hour at a center frequency of 1382 MHz with 340 MHz bandwidth at Parkes, and at a center frequency of 193 MHz with 15 MHz bandwidth at the MWA. Our analysis has led to the detection of 55 giant pulses at the MWA and 2075 at Parkes above a threshold of 3.5σ and 6.5σ, respectively. We detected 51% of the MWA giant pulses at the Parkes radio telescope, with spectral indices in the range of -3.6 > α > -4.9 (Sv ∝ vα). We present a Monte Carlo analysis supporting the conjecture that the giant pulse emission in the Crab is intrinsically broadband, the less than 100% correlation being due to the relative sensitivities of the two instruments and the width of the spectral index distribution. Our observations are consistent with the hypothesis that the spectral index of giant pulses is drawn from normal distribution of standard deviation 0.6, but with a mean that displays an evolution with frequency from -3.00 at 1382 MHz, to -2.85 at 192 MHz

Post-Newtonian SPH calculations of binary neutron star coalescence. I. Method and first results

We present the first results from our Post-Newtonian (PN) Smoothed Particle Hydrodynamics (SPH) code, which has been used to study the coalescence of binary neutron star (NS) systems. The Lagrangian particle-based code incorporates consistently all lowest-order (1PN) relativistic effects, as well as gravitational radiation reaction, the lowest-order dissipative term in general relativity. We test our code on sequences of single NS models of varying compactness, and we discuss ways to make PN simulations more relevant to realistic NS models. We also present a PN SPH relaxation procedure for constructing equilibrium models of synchronized binaries, and we use these equilibrium models as initial conditions for our dynamical calculations of binary coalescence. Though unphysical, since tidal synchronization is not expected in NS binaries, these initial conditions allow us to compare our PN work with previous Newtonian results. We compare calculations with and without 1PN effects, for NS with stiff equations of state, modeled as polytropes with $\Gamma=3$. We find that 1PN effects can play a major role in the coalescence, accelerating the final inspiral and causing a significant misalignment in the binary just prior to final merging. In addition, the character of the gravitational wave signal is altered dramatically, showing strong modulation of the exponentially decaying waveform near the end of the merger. We also discuss briefly the implications of our results for models of gamma-ray bursts at cosmological distances.Comment: RevTeX, 37 pages, 17 figures, to appear in Phys. Rev. D, minor corrections onl

Ethylene-regulated gene expression in tomato fruit: characterization of novel ethylene-responsive and ripeningrelated genes isolated by differential display.

Differential display was used to isolate early ethyleneregulated genes from late immature green tomato fruit in order to obtain a broader understanding of the molecular basis by which ethylene coordinates the ripening process. Nineteen novel ethylene-responsive (ER) cDNA clones were isolated that fell into three classes: (i) ethylene up-regulated (ii) ethylene downregulated, and (iii) transiently induced. Expression analysis revealed that ethylene-dependent changes in mRNA accumulation occurred rapidly (15 min) for most of the ER clones. The predicted proteins encoded by the ER genes are putatively involved in processes as diverse as primary metabolism, hormone signalling and stress responses. Although a number of the isolated ER clones correspond to genes already documented in other species, their responsiveness to ethylene is described here for the ®rst time. Among the ER clones sharing high homology with regulatory genes, ER43, a putative GTP-binding protein, and ER50, a CTR1-like clone, are potentially involved in signal transduction. ER24 is homologous to the multiprotein bridging factor MBF1 involved in transcriptional activation, and ®nally, two clones are homologous to genes involved in post-transcriptional regulation: ER49, a putative translational elongation factor, and ER68, a mRNA helicase-like gene. Six ER clones correspond to as yet unidenti®ed genes. The expression studies indicated that all the ER genes are ripening-regulated, and, depending on the clone, show changes in transcript accumulation either at the breaker, turning, or red stage. Analysis of transcript accumulation in different organs indicated a strong bias towards expression in the fruit for many of the clones. The potential roles for some of the ER clone

The state of the Martian climate

60°N was +2.0°C, relative to the 1981–2010 average value (Fig. 5.1). This marks a new high for the record. The average annual surface air temperature (SAT) anomaly for 2016 for land stations north of starting in 1900, and is a significant increase over the previous highest value of +1.2°C, which was observed in 2007, 2011, and 2015. Average global annual temperatures also showed record values in 2015 and 2016. Currently, the Arctic is warming at more than twice the rate of lower latitudes

Biomarkers of Multiple Sclerosis

The search for an ideal multiple sclerosis biomarker with good diagnostic value, prognostic reference and an impact on clinical outcome has yet to be realized and is still ongoing. The aim of this review is to establish an overview of the frequent biomarkers for multiple sclerosis that exist to date. The review summarizes the results obtained from electronic databases, as well as thorough manual searches. In this review the sources and methods of biomarkers extraction are described; in addition to the description of each biomarker, determination of the prognostic, diagnostic, disease monitoring and treatment response values besides clinical impact they might possess. We divided the biomarkers into three categories according to the achievement method: laboratory markers, genetic-immunogenetic markers and imaging markers. We have found two biomarkers at the time being considered the gold standard for MS diagnostics. Unfortunately, there does not exist a single solitary marker being able to present reliable diagnostic value, prognostic value, high sensitivity and specificity as well as clinical impact. We need more studies to find the best biomarker for MS.publishersversionPeer reviewe

Use of SMS texts for facilitating access to online alcohol interventions: a feasibility study

A41 Use of SMS texts for facilitating access to online alcohol interventions: a feasibility study In: Addiction Science & Clinical Practice 2017, 12(Suppl 1): A4

Search for jet extinction in the inclusive jet-pT spectrum from proton-proton collisions at s=8 TeV

Published by the American Physical Society under the terms of the Creative Commons Attribution 3.0 License. Further distribution of this work must maintain attribution to the author(s) and the published articles title, journal citation, and DOI.The first search at the LHC for the extinction of QCD jet production is presented, using data collected with the CMS detector corresponding to an integrated luminosity of 10.7  fb−1 of proton-proton collisions at a center-of-mass energy of 8 TeV. The extinction model studied in this analysis is motivated by the search for signatures of strong gravity at the TeV scale (terascale gravity) and assumes the existence of string couplings in the strong-coupling limit. In this limit, the string model predicts the suppression of all high-transverse-momentum standard model processes, including jet production, beyond a certain energy scale. To test this prediction, the measured transverse-momentum spectrum is compared to the theoretical prediction of the standard model. No significant deficit of events is found at high transverse momentum. A 95% confidence level lower limit of 3.3 TeV is set on the extinction mass scale

Risk profiles and one-year outcomes of patients with newly diagnosed atrial fibrillation in India: Insights from the GARFIELD-AF Registry.

BACKGROUND: The Global Anticoagulant Registry in the FIELD-Atrial Fibrillation (GARFIELD-AF) is an ongoing prospective noninterventional registry, which is providing important information on the baseline characteristics, treatment patterns, and 1-year outcomes in patients with newly diagnosed non-valvular atrial fibrillation (NVAF). This report describes data from Indian patients recruited in this registry. METHODS AND RESULTS: A total of 52,014 patients with newly diagnosed AF were enrolled globally; of these, 1388 patients were recruited from 26 sites within India (2012-2016). In India, the mean age was 65.8 years at diagnosis of NVAF. Hypertension was the most prevalent risk factor for AF, present in 68.5% of patients from India and in 76.3% of patients globally (P < 0.001). Diabetes and coronary artery disease (CAD) were prevalent in 36.2% and 28.1% of patients as compared with global prevalence of 22.2% and 21.6%, respectively (P < 0.001 for both). Antiplatelet therapy was the most common antithrombotic treatment in India. With increasing stroke risk, however, patients were more likely to receive oral anticoagulant therapy [mainly vitamin K antagonist (VKA)], but average international normalized ratio (INR) was lower among Indian patients [median INR value 1.6 (interquartile range {IQR}: 1.3-2.3) versus 2.3 (IQR 1.8-2.8) (P < 0.001)]. Compared with other countries, patients from India had markedly higher rates of all-cause mortality [7.68 per 100 person-years (95% confidence interval 6.32-9.35) vs 4.34 (4.16-4.53), P < 0.0001], while rates of stroke/systemic embolism and major bleeding were lower after 1 year of follow-up. CONCLUSION: Compared to previously published registries from India, the GARFIELD-AF registry describes clinical profiles and outcomes in Indian patients with AF of a different etiology. The registry data show that compared to the rest of the world, Indian AF patients are younger in age and have more diabetes and CAD. Patients with a higher stroke risk are more likely to receive anticoagulation therapy with VKA but are underdosed compared with the global average in the GARFIELD-AF. CLINICAL TRIAL REGISTRATION-URL: http://www.clinicaltrials.gov. Unique identifier: NCT01090362