bluuebunny/crossref_metadata_2025_split huggingface dataset:
POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families
Authors: Shen Erica , Xiu Joanne , Lopez Giselle Y , Bentley Rex , Jalali Ali , Heimberger Amy B , Bainbridge Matthew N , Bondy Melissa L , Walsh Kyle M 
Published: January 2020

BackgroundThe shelterin complex is composed of six proteins that protect and regulate telomere length, including protection of telomeres 1 (POT1). Germline POT1 mutations are associated with an autosomal dominant familial cancer syndrome presenting with diverse malignancies, including glioma, angiosarcoma, colorectal cancer and melanoma. Although somatic POT1 mutations promote telomere elongation and genome instability in chronic lymphocytic leukaemia, the contribution of POT1 mutations to development of other sporadic cancers is largely unexplored.MethodsWe performed logistic regression, adjusted for tumour mutational burden, to identify associations between POT1 mutation frequency and tumour type in 62 368 tumours undergoing next-generation sequencing.ResultsA total of 1834 tumours harboured a non-benign mutation of POT1 (2.94%), of which 128 harboured a mutation previously reported to confer familial cancer risk in the setting of germline POT1 deficiency. Angiosarcoma was 11 times more likely than other tumours to harbour a POT1 mutation (p=1.4×10−20), and 65% of POT1-mutated angiosarcoma had >1 mutations in POT1. Malignant gliomas were 1.7 times less likely to harbour a POT1 mutation (p=1.2×10−3) than other tumour types. Colorectal cancer was 1.2 times less likely to harbour a POT1 mutation (p=0.012), while melanoma showed no differences in POT1 mutation frequency versus other tumours (p=0.67).ConclusionsThese results confirm a role for shelterin dysfunction in angiosarcoma development but suggest that gliomas arising in the context of germline POT1 deficiency activate a telomere-lengthening mechanism that is uncommon in gliomagenesis.
Finite-size effects in heavy halo nuclei from effective field theory
Authors: Ryberg E. , Forssén C. , Phillips D. R. , van Kolck U. 
Published: January 2020

AbstractHalo/Cluster Effective Field Theory describes halo/cluster nuclei in an expansion in the small ratio of the size of the core(s) to the size of the system. Even in the point-particle limit, neutron-halo nuclei have a finite charge radius, because their center of mass does not coincide with their center of charge. This point-particle contribution decreases as $$1/A_\mathrm {c}$$1/Ac, where $$A_\mathrm {c}$$Ac is the mass number of the core, and diminishes in importance compared to other effects, e.g., the size of the core to which the neutrons are bound. Here we propose that for heavy cores the EFT expansion should account for the small factors of $$1/A_\mathrm {c}$$1/Ac. As a specific example, we discuss the implications of this organizational scheme for the inclusion of finite-size effects in expressions for the charge radii of halo nuclei. We show in particular that a short-range operator could be the dominant effect in the charge radius of one-neutron halos bound by a P-wave interaction. The point-particle contribution remains the leading piece of the charge radius for one-proton halos, and so Halo EFT has more predictive power in that case.
Voltage tracking of bridgeless PFC cuk converter using PI controller
Authors: Utomo W. M. , Isa N. A. A. , Bakar A. A. , Gani A. F. H. A. , Prasetyo B. E. , Elmunsyah H. , Buswig Y.M.Y 
Published: January 2020

This paper proposes a Proportional-Integral (PI) control voltage tracking of Bridgeless Power Factor Correction (BPFC) Cuk converter. In order to investigate the behaviour of different output voltages during overshoot, steady state and step response, P.I controller is designed to set the -42 V, -48 V, -54 V output voltages. The simulation results show that the proposed PI controller able to control the output voltage and achieve fast steady state and step response of BPFC Cuk converter. When the value of output voltage increase, the overshoot voltage will become higher but the steady state respond will be faster. Furthermore, BPFC Cuk converter with P.I controller have low output voltage ripples.
Comparative study of metaheuristics methods applied to smart grid network in Morocco
Authors: Habachi Rachid , Touil Achraf , Boulal Abdellah , Charkaoui Abdelkabir , Echchatbi Abdelwahed 
Published: January 2020

The economic dispatch problem of power plays a very important role in the exploitation of electro-energy systems to judiciously distribute power generated by all plants. The Unit commitment problem (UCP) is mainly finding the minimum cost schedule to a set of generators by turning each one either on or off over a given time horizon to meet the demand load and satisfy different operational constraints, This research article integrates the crow search algorithm (CSA) as a local optimizer of Eagle strategy (ES) to solve economic dispatch and unit commitment problem in smart grid system of two electricity networks: a testing system 7 units and the Moroccan network.. The results obtained by ES- CSA are compared with various results obtained in the literature. Simulation results show that using ES-CSA can lead to finding stable and adequate power generated that can fulfill the need of both the civil and industrial areas<em>.</em>
Surface Potential modeling of Dual Metal Gate-Graded Channel-Dual Oxide Thickness with two dielectric constant different of Surrounding Gate MOSFET
Authors: Jaafar Hind , Aouaj Abdellah , Bouziane A. , Iñiguez Benjamin 
Published: January 2020

An Analytical study for the surface potential, threshold voltage and Subthreshold swing (SS) of Dual-metal Gate Graded channel and Dual Oxide Thickness with two dielectric constant different cylindrical gate surrounding-gate (DMG-GC-DOTTDCD) metal–oxide–semiconductor field-effect transistors (MOSFETs) is proposed to investigate short-channel effects (SCEs). The performance of the modified structure was studied by developing physics-based analytical models for the surface potential, threshold voltage shift, and Subthreshold swing. It is shown that the novel MOSFET could significantly reduce threshold voltage shift and Subthreshold swing, can also provides improved electron transport and reduced short channel effects (SCE). Results reveal that the DMG-GC-DOTTDCD devices with different dielectric constant offer superior characteristics as compared to DMG-GC-DOT devices. The derived analytical models agree well with simulation by ATLAS.
Cytokine mRNA Degradation in Cardiomyocytes Restrains Sterile Inflammation in Pressure-Overloaded Hearts
Authors: Omiya Shigemiki , Omori Yosuke , Taneike Manabu , Murakawa Tomokazu , Ito Jumpei , Tanada Yohei , Nishida Kazuhiko , Yamaguchi Osamu , Satoh Takashi , Shah Ajay M. , Akira Shizuo , Otsu Kinya 
Published: January 2020

Background:
Proinflammatory cytokines play an important role in the pathogenesis of heart failure. The mechanisms responsible for maintaining sterile inflammation within failing hearts remain poorly defined. Although transcriptional control is important for proinflammatory cytokine gene expression, the stability of mRNA also contributes to the kinetics of immune responses. Regnase-1 is an RNase involved in the degradation of a set of proinflammatory cytokine mRNAs in immune cells. The role of Regnase-1 in nonimmune cells such as cardiomyocytes remains to be elucidated.

Methods:
To examine the role of proinflammatory cytokine degradation by Regnase-1 in cardiomyocytes, cardiomyocyte-specific Regnase-1–deficient mice were generated. The mice were subjected to pressure overload by means of transverse aortic constriction to induce heart failure. Cardiac remodeling was assessed by echocardiography as well as histological and molecular analyses 4 weeks after operation. Inflammatory cell infiltration was examined by immunostaining. Interleukin-6 signaling was inhibited by administration with its receptor antibody. Overexpression of Regnase-1 in the heart was performed by adeno-associated viral vector–mediated gene transfer.

Results:

Cardiomyocyte-specific Regnase-1–deficient mice showed no cardiac phenotypes under baseline conditions, but exhibited severe inflammation and dilated cardiomyopathy after 4 weeks of pressure overload compared with control littermates. Four weeks after transverse aortic constriction, the
Il6
mRNA level was upregulated, but not other cytokine mRNAs, including tumor necrosis factor–α, in Regnase-1–deficient hearts. Although the
Il6
mRNA level increased 1 week after operation in both Regnase-1–deficient and control hearts, it showed no increase in control hearts 4 weeks after operation. Administration of anti–interleukin-6 receptor antibody attenuated the development of inflammation and cardiomyopathy in cardiomyocyte-specific Regnase-1–deficient mice. In severe pressure overloaded wild-type mouse hearts, sustained induction of
Il6
mRNA was observed, even though the protein level of Regnase-1 increased. Adeno-associated virus 9–mediated cardiomyocyte-targeted gene delivery of Regnase-1 or administration of anti–interleukin-6 receptor antibody attenuated the development of cardiomyopathy induced by severe pressure overload in wild-type mice.

Conclusions:
The degradation of cytokine mRNA by Regnase-1 in cardiomyocytes plays an important role in restraining sterile inflammation in failing hearts and the Regnase-1–mediated pathway might be a therapeutic target to treat patients with heart failure.
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy
Authors: Ramchand Jay , Wallis Mathew , Macciocca Ivan , Lynch Elly , Farouque Omar , Martyn Melissa , Phelan Dean , Chong Belinda , Lockwood Siobhan , Weintraub Robert , Thompson Tina , Trainer Alison , Zentner Dominica , Vohra Jitendra , Chetrit Michael , Hare David L. , James Paul 
Published: January 2020

Background
Dilated cardiomyopathy may be heritable but shows extensive genetic heterogeneity. The utility of whole exome sequencing as a first‐line genetic test for patients with dilated cardiomyopathy in a contemporary “real‐world” setting has not been specifically established. Using whole exome sequencing with rigorous, evidence‐based variant interpretation, we aimed to identify the prevalence of a molecular diagnosis in patients with dilated cardiomyopathy in a clinical setting.

Methods and Results

Whole exome sequencing was performed in eligible patients (n=83) with idiopathic or familial dilated cardiomyopathy. Variants were prioritized for curation in up to 247 genes and classified using American College of Medical Genetics and Genomics–based criteria. Ten (12%) had a pathogenic or likely pathogenic variant. Eight (10%) participants had truncating

TTN

variants classified as variants of uncertain significance. Five (6%) participants had variants of unknown significance according to strict American College of Medical Genetics and Genomics criteria but classified as either pathogenic or likely pathogenic by other clinical laboratories. Pathogenic or likely pathogenic variants were found in 8 genes (all within tier 1 genes), 2 (20%) of which are not included in a standard commercially available dilated cardiomyopathy panel. Using our bioinformatics pipeline, there was an average of 0.74 variants of uncertain significance per case with ≈0.75 person‐hours needed to interpret each of these variants.

Conclusions
Whole exome sequencing is an effective diagnostic tool for patients with dilated cardiomyopathy. With stringent classification using American College of Medical Genetics and Genomics criteria, the rate of detection of pathogenic variants is lower than previous reports. Efforts to improve adherence to these guidelines will be important to prevent erroneous misclassification of nonpathogenic variants in dilated cardiomyopathy genetic testing and inappropriate cascade screening.
Walking Route–Based Calculation is Recommended for Optimizing Deployment of Publicly Accessible Defibrillators in Urban Cities
Authors: Fan Min , Fan Kit‐Ling , Leung Ling‐Pong 
Published: January 2020

Background

A straight line–based model is often used to calculate the distance between an out‐of‐hospital cardiac arrest (
OHCA
) and the location of an automated external defibrillator (
AED
). This model may be inaccurate as it overlooks any obstacles between the
OHCA
and
AED
. This study aimed to elucidate the effect of the straight line–based and walking route–based calculation on the average distance between an historical
OHCA
and the closest
AED
and the coverage rate of
AEDs,
ie, the proportion of historical
OHCAs
that were within 100 meters of an
AED
. It is hoped that the findings will help policy makers in deploying
AEDs
in optimal urban settings.

Methods and Results

This was an observational study conducted in Hong Kong. The average distance between an historical
OHCA
and its closest
AED
and the coverage rate of
AEDs
were calculated with both the straight line–based and walking route–based model. A total of 1637
AEDs
and 5119 cases of
OHCA
were included for analysis. The average distances calculated by the straight line–based and walking route–based model were 230.8 and 545.3 meters, respectively. The coverage rate calculated by the straight line–based model was 30.04%, while that by the walking route–based model was 11.17%.

Conclusions

The straight line–based model may underestimate the average distances and overestimate the coverage rate in an urban setting. The walking route–based model may be more useful for studies of
AED
deployment in urban cities.
The Causal Role of Left and Right Superior Temporal Gyri in Speech Perception in Noise: A Transcranial Magnetic Stimulation Study
Authors: Kennedy-Higgins Dan , Devlin Joseph T. , Nuttall Helen E. , Adank Patti 
Published: January 2020

Abstract
Successful perception of speech in everyday listening conditions requires effective listening strategies to overcome common acoustic distortions, such as background noise. Convergent evidence from neuroimaging and clinical studies identify activation within the temporal lobes as key to successful speech perception. However, current neurobiological models disagree on whether the left temporal lobe is sufficient for successful speech perception or whether bilateral processing is required. We addressed this issue using TMS to selectively disrupt processing in either the left or right superior temporal gyrus (STG) of healthy participants to test whether the left temporal lobe is sufficient or whether both left and right STG are essential. Participants repeated keywords from sentences presented in background noise in a speech reception threshold task while receiving online repetitive TMS separately to the left STG, right STG, or vertex or while receiving no TMS. Results show an equal drop in performance following application of TMS to either left or right STG during the task. A separate group of participants performed a visual discrimination threshold task to control for the confounding side effects of TMS. Results show no effect of TMS on the control task, supporting the notion that the results of Experiment 1 can be attributed to modulation of cortical functioning in STG rather than to side effects associated with online TMS. These results indicate that successful speech perception in everyday listening conditions requires both left and right STG and thus have ramifications for our understanding of the neural organization of spoken language processing.
Temperature-Based Crossmodal Correspondences: Causes and Consequences
Authors: Spence Charles 
Published: January 2020

Abstract
The last few years have seen an explosive growth of research interest in the crossmodal correspondences, the sometimes surprising associations that people experience between stimuli, attributes, or perceptual dimensions, such as between auditory pitch and visual size, or elevation. To date, the majority of this research has tended to focus on audiovisual correspondences. However, a variety of crossmodal correspondences have also been demonstrated with tactile stimuli, involving everything from felt shape to texture, and from weight through to temperature. In this review, I take a closer look at temperature-based correspondences. The empirical research not only supports the existence of robust crossmodal correspondences between temperature and colour (as captured by everyday phrases such as ‘red hot’) but also between temperature and auditory pitch. Importantly, such correspondences have (on occasion) been shown to influence everything from our thermal comfort in coloured environments through to our response to the thermal and chemical warmth associated with stimulation of the chemical senses, as when eating, drinking, and sniffing olfactory stimuli. Temperature-based correspondences are considered in terms of the four main classes of correspondence that have been identified to date, namely statistical, structural, semantic, and affective. The hope is that gaining a better understanding of temperature-based crossmodal correspondences may one day also potentially help in the design of more intuitive sensory-substitution devices, and support the delivery of immersive virtual and augmented reality experiences.
The cognitive premises of myth-oriented semiosis
Authors: Kolesnyk Oleksandr 
Published: January 2020

The cognitive premises of myth-oriented semiosisThis article addresses the cognitive premises of designation units denoting mythic concepts in a variety of texts and discourses. The article focuses on myth-oriented semiosis as a cognitive and cultural phenomenon reflected in the semantic transformations of lingual signs, resulting in the development of noematic senses relevant to the states of affairs in diverse worldviews or modelled alternative realities. This article provides an analysis of the basic cognitive models and procedures responsible for irrational cognition. The reconstructed cognitive models are then discussed in terms of their correspondence with the universal patterns of open system interaction and information exchange. Poznawcze przesłanki semiozy zorientowanej na mitTen artykuł dotyczy poznawczych przesłanek jednostek desygnacyjnych oznaczających mityczne pojęcia w różnych tekstach i dyskursach. Artykuł koncentruje się na semiozie zorientowanej na mit jako zjawisku poznawczym i kulturowym odzwierciedlonym w semantycznych przekształceniach znaków językowych, co skutkuje rozwojem noematycznych zmysłów związanych ze stanami rzeczy w różnych światopoglądach lub modelowanych alternatywnych rzeczywistościach. Ten artykuł zawiera analizę podstawowych modeli i procedur poznawczych odpowiedzialnych za irracjonalne poznanie. Zrekonstruowane modele poznawcze są następnie omawiane pod kątem ich zgodności z uniwersalnymi wzorcami interakcji otwartego systemu i wymiany informacji.
The verbalization of the concept of “fear” in English and Ukrainian phraseological units
Authors: Mykhalchuk Nataliia , Bihunova Svitozara 
Published: January 2020

The verbalization of the concept of “fear” in English and Ukrainian phraseological unitsThis article is devoted to the study of English and Ukrainian phraseological units related to the emotional concept of “fear”. The article presents a sample of these phraseological units, compares them, and analyses the inner form of the concept of “fear” in the selected phraseological units. Werbalizacja pojęcia „strachu” w angielskich i ukraińskich jednostkach frazeologicznychArtykuł poświęcony jest badaniu angielskich i ukraińskich jednostek frazeologicznych związanych z emocjonalną koncepcją „strachu”. Artykuł przedstawia próbkę tych jednostek frazeologicznych, porównuje je i analizuje wewnętrzną formę pojęcia „strachu” w wybranych jednostkach frazeologicznych.
Usability: Adoption, Measurement, Value
Authors: Mator Janine D. , Lehman William E. , McManus Wyatt , Powers Sarah , Tiller Lauren , Unverricht James R. , Still Jeremiah D. 
Published: January 2020

Objective We searched for the application of usability in the literature with a focus on adoption, measurements employed, and demonstrated value. Five human factors domains served as a platform for our reflection, which included the last 20 years. Background As usability studies continue to accumulate, there has been only a little past reflection on usability and contributions across a variety of applications. Our research provides a background for general usability, and we target specific usability research subareas within transportation, aging populations, autistic populations, telehealth, and cybersecurity. Method “Usability” research was explored across five different domains within human factors. The goal was not to perform an exhaustive review but, rather, sample usability practices within several specific subareas. We focused on answering three questions: How was usability adopted? How was it measured? How was it framed in terms of value? Conclusion We found that usability is very domain specific. Usability benchmarking studies and empirical standards are rare. The value associated with improving usability ranged widely—from monetary benefits to saving lives. Thus, researchers are motivated to further improve usability practices. A number of data collection and interpretation challenges still call for solutions. Application Findings offer insight into the development of usability, as applied across a variety of subdomains. Our reflection ought to inform future theory development efforts. We are concerned about the lack of established benchmarks, which can help ground data interpretation. Future research should address this gap in the literature. We note that our findings can be used to develop better training materials for future usability researchers.
Incidental giant cystic pheochromocytoma: a case report and review of the literature
Authors: Clements Hollie Alice , Wilson Michael SJ , Smith David M 
Published: January 2020

Introduction Pheochromocytoma is a tumour arising from the adrenal medulla, which secretes catecholamines. Approximately 20% of pheochromocytomas are cystic and more likely to be asymptomatic. They should be surgically resected as all have a malignant potential and pose cardiovascular risk. Case presentation: We report the case of a 61-year-old female patient admitted electively for laparoscopic adrenalectomy for a large cystic pheochromocytoma detected incidentally. Diagnosis was confirmed preoperatively by elevated 24-h urinary metanephrines. The patient was treated preoperatively with alpha and beta blockade. Surgery was without complication; she had an uneventful postoperative recovery and no evidence of recurrence at one-year follow-up. Conclusion This case highlights the necessity of investigating for biochemical function in all adrenal lesions by measuring metanephrines, even when entirely cystic on imaging. Given the surgical and anaesthetic risk in resection of pheochromocytoma, attaining a preoperative diagnosis allows for careful preoperative planning and safe surgery.
On an Open Question Regarding When Two-Block Pricing Weakly Dominates Two-Part Tariff
Authors: Chen Frederick 
Published: January 2020

Leland and Meyer showed through an example that when the distribution of consumer types is nondegenerate, there exist two-block pricing plans that yield strictly higher producer surplus than the profit maximizing two-part tariff scheme. This led them to pose the following question: does weak dominance (in the sense of profit) rather than strict dominance of two-block pricing over two-part tariff hold only when the distribution of buyer-types is degenerate? This note shows that the answer to this question is, No: even when the distribution of consumer types is continuous, it is possible that the best two-block pricing scheme performs no better than the best two-part tariff. JEL Classification: D4