bluuebunny/crossref_metadata_2025_split huggingface dataset:
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients
Authors: Guipponi M , Santoni F , Schneider M , Gehrig C , Bustillo X B , Kates W R , Morrow B , Armando M , Vicari S , Sloan-Béna F , Gagnebin M , Shashi V , Hooper S R , Eliez S , Antonarakis S E 
Published: February 2017

AbstractThe velo-cardio-facial syndrome (VCFS) is caused by hemizygous deletions on chromosome 22q11.2. The VCFS phenotype is complex and characterized by frequent occurrence of neuropsychiatric symptoms with up to 25–30% of cases suffering from psychotic disorders compared with only ~1% in the general population (odds ratio≈20–25). This makes the 22q11.2 deletion one of the most prominent risk factors for schizophrenia. However, its penetrance for neuropsychiatric phenotypes is incomplete suggesting that additional risk factors are required for disease development. These additional risk factors could lie anywhere on the genome, but by reducing the normal diploid to a haploid state, the 22q11.2 deletion could result in the unmasking of otherwise recessive alleles or functional variants on the non-deleted 22q11.2 allele. To test this hypothesis, we captured and sequenced the whole 22q11.2 non-deleted region in 88 VCFS patients with (n=40) and without (n=48) psychotic disorders to identify genetic variation that could increase the risk for schizophrenia. Single nucleotide variants (SNVs), small insertions/deletions (indels) and copy number variants were called and their distributions were compared between the two diagnostic groups using variant-, gene- and region-based association tests. None of these tests resulted in statistical evidence for the existence of a genetic variation in the non-deleted allele that would increase schizophrenia risk in VCFS patients. Power analysis showed that our study was able to achieve >80% statistical power to detect association of a risk variant with an odd ratio of ⩾22. However, it is certainly under-powered to detect risk variant of smaller effect sizes. Our study did not provide evidence that genetic variants of very large effect size located on the non-deleted 22q1.2 allele in VCFS patients increase the risk for developing psychotic disorders. Variants with smaller effects may be located in the remaining 22q11.2 allele and elsewhere in the genome. Therefore, whole exome or even genome sequencing for larger sample size would appear to be the next logical steps in the search for the genetic modifiers of the 22q11.2-deletion neuropsychiatric phenotype.
Transcriptomic analyses and leukocyte telomere length measurement in subjects exposed to severe recent stressful life events
Authors: Lopizzo N , Tosato S , Begni V , Tomassi S , Cattane N , Barcella M , Turco G , Ruggeri M , Riva M A , Pariante C M , Cattaneo A 
Published: February 2017

AbstractStressful life events occurring in adulthood have been found able to affect mood and behavior, thus increasing the vulnerability for several stress-related psychiatric disorders. However, although there is plenty of clinical data supporting an association between stressful life events in adulthood and an enhanced vulnerability for psychopathology, the underlying molecular mechanisms are still poorly investigated. Thus, in this study we performed peripheral/whole-genome transcriptomic analyses in blood samples obtained from 53 adult subjects characterized for recent stressful life events occurred within the previous 6 months. Transcriptomic data were analyzed using Partek Genomics Suite; pathway and network analyses were performed using Ingenuity Pathway Analysis and GeneMANIA Software. We found 207 genes significantly differentially expressed in adult subjects who reported recent stressful life experiences (n=21) compared with those without such experiences (n=32). Moreover, the same subjects exposed to such stressful experiences showed a reduction in leukocyte telomere length. A correlation analyses between telomere length and transcriptomic data indicated an association between the exposures to recent stressful life events and the modulation of several pathways, mainly involved in immune-inflammatory-related processes and oxidative stress, such as natural killer cell signaling, interleukin-1 (IL-1) signaling, MIF regulation of innate immunity and IL-6 signaling. Our data suggest an association between exposures to recent stressful life events in adulthood and alterations in the immune, inflammatory and oxidative stress pathways, which could be also involved in the negative effect of stressful life events on leukocyte telomere length. The modulation of these mechanisms may underlie the clinical association between the exposure to recent Stressful life events in adulthood and an enhanced vulnerability to develop psychiatric diseases in adulthood.
Fast power–frequency function estimation for induction heating appliances
Authors: Domingo N. , Barragán L.A. , Montiel J.M.M. , Domínguez A. , Artigas J.I. 
Published: February 2017

Induction heating appliances use control algorithms to regulate the power delivered to the vessel in a wide range [50 W–3.5 kW]. Switching frequency is commonly used to control the delivered power, hence an accurate identification of the power–frequency function would be useful, especially in multiple‐output power converters. However, this function exhibits a severe variability due to temperature or vessel‐inductor geometrical alignment, what reduces the performance of the open‐loop control strategies. A method is presented to estimate the power–frequency function in just half a period of the utility voltage. The method packs several switching frequencies in the short identification period. The load is modelled as an equivalent series resistance–inductance, where both parameters vary linearly with respect to the switching frequency. The method is able to safely estimate the function using only switching frequencies well above resonance, but crucially, it is able to extrapolate accurately the delivered power levels even close to resonance.
Interleaved full ZVZCS DC–DC boost converter: analysis, design, reliability evaluations and experimental results
Authors: Tarzamni Hadi , Babaei Ebrahim , Zarrin Gharehkoushan Amirreza , Sabahi Mehran 
Published: February 2017

In this study, a new interleaved full soft switching DC–DC boost converter with a high power reliability is proposed. To achieve soft switching, a simple auxiliary circuit consisting of one switch, one diode, one inductor and two capacitors is employed in each single‐phase DC–DC boost converter connected in parallel. All switches and diodes, including main and auxiliary ones, operate under soft switching conditions. These soft switching conditions consist of zero voltage and zero current switching (ZVZCS) for all switches and diodes at switching transitions except the output diodes, which turn off only with zero current switching. The soft switching technique used in this study decreases power losses which leads the converter to have higher efficiency and reliability. Also, the auxiliary circuit is located out of the main power path preventing high voltage and current stresses on the switches. In this study, operational modes analysis, design procedure, power reliability evaluations and laboratory prototype results with switching frequency of 20 kHz, input voltage of 48 V and output power of 40 W are presented.
Synthesis of carbon nanotubes on the surface of the field cathode of X-ray tube
Authors: Taubin M L , Urusov A A , Bratsuk A V 
Published: February 2017

Abstract
Carbon nanotubes are unique materials being actively investigated in the development of X-ray tubes with a field cathode. The so-called cold-ray tubes. Our contribution in this direction is the use of single crystals W for the anodes and cathodes as substrates. Here are the structures we obtained carbon nanotubes with the catalysts and directly on the surface of tungsten. The report presents results of studies of carbon nanotubes (CNT) formation on metal substrates W and Ni. X-ray microprobe analysis revealed the presence of 8 at. % carbon. Average density of the powder was measured as 5.1 ± 0.1 g/cm3. Calculations have shown that this value corresponds to the density of the carbon content of 8 at. %.
Identification of genetic outliers due to sub-structure and cryptic relationships
Authors: Schlauch Daniel , Fier Heide , Lange Christoph 
Published: February 2017

Abstract

Motivation
In order to minimize the effects of genetic confounding on the analysis of high-throughput genetic association studies, e.g. (whole-genome) sequencing (WGS) studies, genome-wide association studies (GWAS), etc., we propose a general framework to assess and to test formally for genetic heterogeneity among study subjects. As the approach fully utilizes the recent ancestor information captured by rare variants, it is especially powerful in WGS studies. Even for relatively moderate sample sizes, the proposed testing framework is able to identify study subjects that are genetically too similar, e.g. cryptic relationships, or that are genetically too different, e.g. population substructure. The approach is computationally fast, enabling the application to whole-genome sequencing data, and straightforward to implement.

Results
Simulation studies illustrate the overall performance of our approach. In an application to the 1000 Genomes Project, we outline an analysis/cleaning pipeline that utilizes our approach to formally assess whether study subjects are related and whether population substructure is present. In the analysis of the 1000 Genomes Project data, our approach revealed subjects that are most likely related, but had previously passed standard qc-filters.

Availability and Implementation
An implementation of our method, Similarity Test for Estimating Genetic Outliers (STEGO), is available in the R package stego from Github at https://github.com/dschlauch/stego.

Supplementary information
Supplementary data are available at Bioinformatics online.
Volume-Staged Stereotactic Radiosurgery for Intracranial Arteriovenous Malformations: Outcomes Based on an 18-Year Experience
Authors: Pollock Bruce E. , Link Michael J. , Stafford Scott L. , Lanzino Giuseppe , Garces Yolanda I. , Foote Robert L. 
Published: February 2017

Abstract

BACKGROUND: Radiation-based treatment options of large intracranial arteriovenous malformations (AVM) must balance the likelihood of obliteration with the risk of adverse radiation effects (ARE).

OBJECTIVE: To analyze the efficacy and risks of volume-staged stereotactic radiosurgery (VS-SRS) for AVM.

METHODS: Retrospective study of 34 AVM patients having VS-SRS between 1997 and 2012. A median of 2 stages (range, 2-4) was used to treat a median AVM volume of 22.2 cm3 (range, 7.4-56.7). The median AVM margin dose was 16 Gy (range, 14-18); the median radiosurgery-based AVM score was 2.81 (range, 1.54-6.45). The median follow-up after VS-SRS was 8.2 years (range, 3-13.3).

RESULTS: Nidus obliteration was noted in 18 patients (53%) after VS-SRS. The rate of obliteration was 14% at 3 years, 54% at 5 years, and 75% at 7 years. Six patients (18%) had 11 bleeds after VS-SRS. Two patients (6%) remained neurologically stable, 2 (6%) patients had significant deficits, and 2 patients (6%) died. The actuarial risk of a first bleed after VS-SRS was 6% at 1 year, 12% at 3 years, and 19% at 7 years. Six patients (18%) underwent repeat SRS; all achieved nidus obliteration for an overall cure rate of 71%. Two patients (6%) had a permanent ARE after VS-SRS or repeat SRS.

CONCLUSION: VS-SRS permitted large volume intracranial AVM to be treated with a low rate of ARE. Further study is needed on dose escalation and decreasing the treatment volume per stage to determine if this will increase the rate of obliteration with this technique.
Replacing noble metals with alternative materials in plasmonics and metamaterials: how good an idea?
Authors: Khurgin Jacob B. 
Published: February 2017

Noble metals that currently dominate the fields of plasmonics and metamaterials suffer from large ohmic losses. Some of the new plasmonic materials, such as doped oxides and nitrides, have smaller material loss, and using them in place of metals carries the promise of reduced-loss plasmonic and metamaterial structures, with sharper resonances and higher field concentrations. This promise is put to a rigorous analytical test in this work, which reveals that having low material loss is not sufficient to have reduced modal loss in plasmonic structures. To reduce the modal loss, it is absolutely necessary for the plasma frequency to be significantly higher than the operational frequency. Using examples of nanoparticle plasmons and gap plasmons one comes to the conclusion that, even in the mid-infrared spectrum, metals continue to hold an advantage over alternative media when it comes to propagation distances and field enhancements. Of course, the new materials still have an application niche where high absorption loss is beneficial, e.g. in medicine and thermal photovoltaics.
This article is part of the themed issue ‘New horizons for nanophotonics’.
The impact factor fallacy
Authors: Paulus Frieder Michel , Cruz Nicole , Krach Sören 
Published: February 2017

AbstractThe use of the journal impact factor (JIF) as a measure for the quality of individual manuscripts and the merits of scientists has faced significant criticism in recent years. We add to the current criticism in arguing that such an application of the JIF in policy and decision making in academia is based on false beliefs and unwarranted inferences. To approach the problem, we use principles of deductive and inductive reasoning to illustrate the fallacies that are inherent to using journal based metrics for evaluating the work of scientists. In doing so, we elaborate that if we judge scientific quality based on the JIF or other journal based metrics we are either guided by invalid or weak arguments or in fact consider our uncertainty about the quality of the work and not the quality itself.
Real-time decoding of bladder pressure from pelvic nerve activity
Authors: Lubba Carl , Mitrani Elie , Hokanson Jim , Grill Warren M. , Schultz Simon R. 
Published: February 2017

AbstractReal time algorithms for decoding physiological signals from peripheral nerve recordings form an important component of closed loop bioelectronic medicine (electroceutical) systems. As a feasibility demonstration, we considered the problem of decoding bladder pressure from pelvic nerve electroneurograms. We extracted power spectral density of the nerve signal across a band optimised for Shannon Mutual Information, followed by linearization via piece-wise linear regression, and finally decoded signal reconstruction through optimal linear filtering. We demonstrate robust and effective reconstruction of bladder pressure, both prior to and following pharmacological manipulation.
Effective connectivity inferred from fMRI transition dynamics during movie viewing points to a balanced reconfiguration of cortical interactions
Authors: Gilson Matthieu , Deco Gustavo , Friston Karl , Hagmann Patric , Mantini Dante , Betti Viviana , Romani Gian Luca , Corbetta Maurizio 
Published: February 2017

AbstractOur behavior entails a flexible and context-sensitive interplay between brain areas to integrate information according to goal-directed requirements. How-ever, the neural mechanisms governing the entrainment of functionally specialized brain areas remain poorly understood. In particular, the question arises whether observed changes in the regional activity for different cognitive conditions are explained by modifications of the inputs to the brain or its connectivity? We observe that transitions of fMRI activity between areas convey information about the tasks performed by 19 subjects, watching a movie versus a black screen (rest). We use a model-based framework that explains this spatiotemporal functional connectivity pattern by the local variability for 66 cortical regions and the network effective connectivity between them. We find that, among the estimated model parameters, movie viewing affects to a larger extent the local activity, which we interpret as extrinsic changes related to the increased stimulus load. However, detailed changes in the effective connectivity preserve a balance in the propagating activity and select specific pathways such that high-level brain regions integrate visual and auditory information, in particular boosting the communication between the two brain hemispheres. These findings speak to a dynamic coordination underlying the functional integration in the brain.
Complete mitochondrial genome of golden silk producerAntheraea assamensisand its comparative analysis with other lepidopteran insects
Authors: Singh Deepika , Kabiraj Debajyoti , Chetia Hasnahana , Sharma Pragya , Neog Kartik , Bora Utpal 
Published: February 2017

AbstractMuga (Antheraea assamensis) is an economically important silkmoth endemic to North-eastern part of India and is the producer of the strongest known commercial silk. However, there is a scarcity of -omics data for understanding the organism at a molecular level. Our present study decodes the complete mitochondrial genome (mitogenome) ofA. assamensisand presents comparative analysis with other lepidopterans. Mitogenome is a 15,272 bp long AT rich (~80.2%) molecule containing 37 genes (13 PCGs, 22 tRNAs, 2 rRNAs) and a 328 bp long control region. The overall mitogenome arrangement was similar to the other lepidopterans. Two PCGscox1andcox2were found to have CGA and GTG as start codons respectively like some lepidopterans. Typical clover-leaf shaped secondary structures of tRNAs were found with a few exceptions such as unstable DHU and TΨC loop intRNASer1andtRNATyr; significant number of mismatches (35) spread over 19 tRNAs. The control region contained a six bp deletion atypical of otherAntheraeaspecies. Phylogenetic position was consistent with the traditional taxonomic classification of Saturniidae. The complete annotated mitogenome is available in GenBank (Accession No.KU379695). To the best of our knowledge, this is the first report on complete mitogenome ofA. assamensis.
Work conditions and engagement among nurses in Uruguay
Authors: Gabel-Shemueli Rachel , Dolan Simon , Suárez Ceretti Adriana 
Published: February 2017

PurposeThe purpose of this paper is to assess the impact of the interaction effect of work conditions including work overload, emotional demands, social support and self-development opportunities on work engagement within the framework of the job demands-resource model.Design/methodology/approachA total of 481 registered nurses in Uruguay participated in this study. A series of multiple structural equations modelling analyses were used to examine the interaction hypotheses and their effect on work engagement.FindingsThree out of four two-way interactions presented significant effects, showing that social support mitigated the negative effects that emotional demands and work overload have on work engagement. However, self-development opportunities only moderated the effect of emotional demands on work engagement, but did not relieve the effects of work overload.Research limitations/implicationsThe study only considered two demands and two resources to test for interactions. Inclusion of other work characteristics as well as personal resources could provide a better understanding of the relationships within an organisation.Practical implicationsThe importance of developing a pool of resources in order to increase nurses’ work engagement and buffer the increasing demands of healthcare professionals is discussed.Originality/valueThe findings provide evidence of the impact of the interaction of job demands and job resources in the development of work engagement in Uruguay. Additionally, the results emphasise the importance of identifying relevant work conditions that contribute to sustaining work engagement in the nursing profession in Latin-American countries.
Performance analysis of supplier development programs
Authors: Kumar C.V. Sunil , Routroy Srikanta 
Published: February 2017

PurposeThe purpose of this paper is to provide an approach that a manufacturer can periodically use to measure the performances of its supplier development programs (SDPs). It also quantifies and indicates the specific supplier development outcomes (SDOs) that a manufacturer has to concentrate in improving its SDPs.Design/methodology/approachThe proposed methodology integrates fuzzy analytic hierarchy process (to determine the importance of SDOs), Pareto analysis (to choose the significant SDOs) and fuzzy logic (to periodically determine the performance indices and grades of the SDPs) methods to measure the performances of SDPs. In order to demonstrate the utility of the methodology, a case situation is presented where the performance measures of SDPs running at five key suppliers of an Indian turbine manufacturing company were determined.FindingsBy periodically applying the above mentioned methodology, the performance indices of a manufacturer’s SDPs are measured, monitored and managed effectively. It is shown that the methodology is advantageous in clearly indicating the scope of improvement for the SDPs along the specific SDOs.Research limitations/implicationsSince the obtained results in this study are specific to a manufacturing environment, they may not be generalized. However, the generic lists of SDOs mentioned in the paper and the proposed approach can be used in any manufacturing environment for analyzing the performances of SDPs.Practical implicationsThe performance analysis of SDPs would help a manufacturer to know more about the functioning of its SDPs along the timeline and provide the scope for improvement.Originality/valueThe proposed approach successfully measures and also grades the performances of SDPs. The results enable the supplier development managers to effectively distribute their investments and efforts along the SDPs.