bluuebunny/crossref_metadata_2025 huggingface dataset:
Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following combined first‐trimester screening
Authors: Iwarsson Erik , Conner Peter
Published: April 2020

Objectives

To determine the detection rates of all types of chromosome aberrations and the residual risk for postnatal diagnosis of an atypical chromosome aberration depending on the strategy for further investigation with either noninvasive prenatal testing (NIPT) or invasive testing in pregnancies with increased risk following combined first‐trimester screening (cFTS).

Methods

A review of all pregnancies examined with cFTS during 2010 to 2017.

Results

The cohort consisted of 129 493 pregnancies. There were 852 (0.7%) clinically significant chromosome aberrations, including aberrations detected later on or after birth. A total of 12% were atypical chromosome aberrations. Considering that 40% were detected due to a miscarriage/intrauterine fetal death or a malformation on ultrasound there is a 0.05% (1:2000) background risk of a postnatal diagnosis of a liveborn child with an atypical chromosome aberration if no further invasive test is performed during pregnancy. If all women with an increased risk (≥1:200) had an invasive test and NIPT was performed up to a risk of 1:1000, 95% of common trisomies/sex chromosome aberrations and 55% of atypical aberrations would be detected.

Conclusions

If NIPT was offered to all women with an increased risk following cFTS it would imply that three times as many children would be born with an atypical chromosome aberration.
Data‐Independent Acquisition Mass Spectrometry‐Based Proteomics and Software Tools: A Glimpse in 2020
Authors: Zhang Fangfei , Ge Weigang , Ruan Guan , Cai Xue , Guo Tiannan
Published: April 2020

This review provides a brief overview of the development of data‐independent acquisition (DIA) mass spectrometry‐based proteomics and selected DIA data analysis tools. Various DIA acquisition schemes for proteomics are summarized first including Shotgun‐CID, DIA, MSE, PAcIFIC, AIF, SWATH, MSX, SONAR, WiSIM, BoxCar, Scanning SWATH, diaPASEF, and PulseDIA, as well as the mass spectrometers enabling these methods. Next, the software tools for DIA data analysis are classified into three groups: library‐based tools, library‐free tools, and statistical validation tools. The approaches are reviewed for generating spectral libraries for six selected library‐based DIA data analysis software tools which are tested by the authors, including OpenSWATH, Spectronaut, Skyline, PeakView, DIA‐NN, and EncyclopeDIA. An increasing number of library‐free DIA data analysis tools are developed including DIA‐Umpire, Group‐DIA, PECAN, PEAKS, which facilitate identification of novel proteoforms. The authors share their user experience of when to use DIA‐MS, and several selected DIA data analysis software tools. Finally, the state of the art DIA mass spectrometry and software tools, and the authors’ views of future directions are summarized.
Residential instability, neighborhood deprivation, and pediatric asthma outcomes
Authors: Molina Adolfo L. , Molina Yamilé , Walley Susan C. , Wu Chang L. , Zhu Aowen , Oates Gabriela R.
Published: April 2020

Introduction

Limited work has directly compared the role of different neighborhood factors or examined their interactive effects on pediatric asthma outcomes. Our objective was to quantify the main and interactive effects of neighborhood deprivation and residential instability (RI) on pediatric asthma outcomes.

Methods

We conducted a retrospective cross‐sectional study of patients with a primary diagnosis of asthma hospitalized at a tertiary care pediatric hospital. Residential addresses at the index hospitalization were linked to the state area deprivation index (ADI). RI was coded as the number of residences in the past 4 years. Logistic and ordinal regression and Cox regression survival analyses were used to estimate the effect on the primary outcomes of chronic asthma severity (intermittent, mild persistent, moderate persistent, severe persistent/other) as defined by the National Heart, Lung, and Blood Institute, severe hospitalization (requiring continuous albuterol or intensive care unit care), and time to emergency department (ED) readmission and rehospitalization within 365 days of the index visit, respectively.

Results

In the sample (N = 664), 21% had severe persistent/other asthma, 22% had severe hospitalization, 37% were readmitted to the ED, and 19% were rehospitalized. Increasing RI was independently associated with more severe chronic asthma (odds ratio = 1.18, 95% confidence interval [CI] = 1.05, 1.32, P = .004), greater risk of 365‐day ED readmission (hazard ratio [HR] = 1.10, 95% CI = 1.05, 1.15, P < .0001), and greater risk of 365‐day rehospitalization (HR = 1.09, 95% CI = 1.03, 1.14, P = .002). There were no significant associations between ADI and these outcomes. Further, we did not find significant evidence of interactive effects.

Conclusions

RI appears to be modestly associated with pediatric asthma outcomes, independent of current neighborhood deprivation.
Oxygen Incorporation Kinetics in Vicinal m(10−10) Gallium Nitride Growth by Metal‐Organic Vapor Phase Epitaxy
Authors: Yosho Daichi , Shintaku Fumiya , Inatomi Yuya , Kangawa Yoshihiro , Iwata Jun-Ichi , Oshiyama Atsushi , Shiraishi Kenji , Tanaka Atsushi , Amano Hiroshi
Published: April 2020

The oxygen incorporation kinetics of vicinal m(10−10) gallium nitride (GaN) growth during metal‐organic vapor phase epitaxy is clarified using a diffusion equation‐based approach that incorporates diffusion potentials obtained by large‐scale density functional theory (DFT) calculations. A diffusion model based on the Burton, Cabrera and Frank (BCF) theory is proposed, and then, the oxygen concentration in the epitaxial films is calculated quantitatively. The calculation results agree with the experimental tendency that the oxygen concentration in the −c 5° off m‐GaN epilayers is lower than that in the +c 5° off m‐GaN epilayers. Then, the off‐angle dependence of oxygen incorporation in vicinal m‐GaN growth is predicted.
Contemporary integrative taxonomy for sexually deprived protists: A case study of Trachelomonas (Euglenaceae) from western Ukraine
Authors: Žerdoner Čalasan Anže , Kretschmann Juliane , Gottschling Marc
Published: April 2020

As many other protist groups, euglenophytes are prone to false identification based solely on morphology because of a limited amount of morphological features and cryptic speciation. One of the supposedly completely asexual groups within the freshwater phototrophic representatives of euglenophytes is Trachelomonas, capable of forming an inorganic shell around its cell (i.e., the lorica). The International Code of Nomenclature for algae, fungi, and plants regulates the taxonomy not only of flowering plants, but explicitly also of phototrophic protists, and provides powerful tools to resolve various taxonomic challenges. To exemplify some of the problems and potential solutions, a number of Trachelomonas strains were collected from the muddy, lake‐rich region of Dobrostany and cultivated under stable laboratory conditions. Being a type locality of 58 unclarified Trachelomonas names, this region in western Ukraine is of great taxonomic importance. Based on light and electron microscopy, and on RAxML and MrBayes phylogenetics using multiple loci and a representative taxon sample, a detailed description of investigated strains and their systematic placement is provided. Morphologically, the strains differed slightly but consistently in minute characters such as size, lorica shape and ornamentation. The presently most comprehensive molecular tree of the Euglenaceae indicated to the existence of at least five different species present in the newly investigated samples, although they were collected from localities in very close vicinity to each other and at the same date. Based on morphological comparisons with type illustrations of species validly described 100 or more years ago, biological material was used to epitypify three names of Trachelomonas, eternally linking morphology with reliable genetic information. This taxonomic application is one of the powerful methods to clarify ambiguous scientific names, which has particular importance in character‐poor protists such as the euglenophytes.
Search for light mediators in the low-energy data of the CONNIE reactor neutrino experiment
Authors:   The CONNIE collaboration, Aguilar-Arevalo Alexis , Bertou Xavier , Bonifazi Carla , Cancelo Gustavo , Cervantes-Vergara Brenda Aurea , Chavez Claudio , D’Olivo Juan C. , dos Anjos João C. , Estrada Juan , Fernandes Neto Aldo R. , Fernandez-Moroni Guillermo , Foguel Ana , Ford Richard , Izraelevitch Federico , Kilminster Ben , Lima H. P. , Makler Martin , Molina Jorge , Mota Philipe , Nasteva Irina , Paolini Eduardo , Romero Carlos , Sarkis Youssef , Haro Miguel Sofo , Tiffenberg Javier , Torres Christian
Published: April 2020

Abstract

The CONNIE experiment is located at a distance of 30 m from the core of a commercial nuclear reactor, and has collected a 3.7 kg-day exposure using a CCD detector array sensitive to an ∼1 keV threshold for the study of coherent neutrino-nucleus elastic scattering. Here we demonstrate the potential of this low-energy neutrino experiment as a probe for physics Beyond the Standard Model, by using the recently published results to constrain two simplified extensions of the Standard Model with light mediators. We compare the new limits with those obtained for the same models using neutrinos from the Spallation Neutron Source. Our new constraints represent the best limits for these simplified models among the experiments searching for CEνNS for a light vector mediator with mass

$$ {M}_{Z^{\prime }} $$

M

Z
′

< 10 MeV, and for a light scalar mediator with mass M

ϕ

< 30 MeV. These results constitute the first use of the CONNIE data as a probe for physics Beyond the Standard Model.
Excellent histological results in terms of articular cartilage regeneration after spheroid-based autologous chondrocyte implantation (ACI)
Authors: Grevenstein David , Mamilos Andreas , Schmitt Volker H. , Niedermair Tanja , Wagner Willi , Kirkpatrick C. James , Brochhausen Christoph
Published: April 2020

Purpose

Traumatic lesions of articular cartilage represent a crucial risk factor for osteoarthritis. Even if several strategies exist to treat such damages, the optimal solution has not yet been found. A new strategy represents the scaffold-free spheroid-based autologous chondrocyte transplantation. In this method, spheroids of chondrocytes are synthesized after chondrocyte isolation and expansion, followed by the implantation in a second intervention.

Methods

Fine Jamshidi-needle biopsies from five patients (one from each patient, Ø 2 mm) treated with a spheroid-based autologous chondrocyte implantation (ACI) after traumatic lesions of the articular cartilage of the knee were analysed histologically and immunohistologically for collagen II, collagen X and aggrecan expression. The indication for a second look arthroscopy was given by arthrofibrosis or meniscus-lesions, respectively. The time between ACI and second-look arthroscopy ranged between 6 and 16 months.

Results

In all patients, the histological examinations revealed an avascular cartilage tissue with a homogenic extracellular matrix. The subchondral bone neither showed bleeding, necrosis nor hypertrophy. A homogenous alcian blue staining indicated high amounts of mucopolysaccharides and glycosaminoglycans. Collagen II staining was highly positive, whereas collagen X staining was negative in every patient, ruling out hypertrophic chondrocyte differentiation. In addition, intense aggrecan staining indicated a strong expression of this extracellular matrix component.

Conclusion

The present case series represents the first histological and immunohistological analyses of spheroid-based ACI in humans. Spheroid-based ACI revealed excellent histological results regarding the regeneration of hyaline articular cartilage. These results indicate that spheroid based ACI is a promising strategy for treating traumatic lesions of the articular cartilage of the knee.
Experimental investigation on micromachining of epoxy/graphene nano platelet nanocomposites
Authors: Fu Guoyu , Huo Dehong , Shyha Islam , Pancholi Ketan , Alzahrani Bandar
Published: April 2020

This paper investigates the effect of graphene nano platelet (GNP) content (%weight fraction) on the machinability of epoxy/GNP nanocomposites. The machinability of nanocomposites with varying loadings of GNP content was evaluated experimentally through the characterisation of cutting forces, surface morphology, chip morphology and tool wear. The minimum chip thickness phenomena of epoxy/GNP occurred at feed per tooth (FPT) between 0.2 and 0.4 μm. In order to achieve to better surface quality, the FPT should be over 0.4 μm. Epoxy/GNP with 1.0 wt% nanocomposite has produced the highest cutting force of a feed rate of ~ 3 N at 12 μm/rev. Epoxy/GNP nanocomposites exhibit the different cracking tendencies compared with plain epoxy, and the tool wear for GNP/epoxy nanocomposites is very small compared with metal nanocomposites. There is no significant difference in slot width accuracy between different types of tools, such as uncoated tool, diamond-like carbon-coated and diamond-coated tools.
Optimal Regularity and Structure of the Free Boundary for Minimizers in Cohesive Zone Models
Authors: Caffarelli L. , Cagnetti F. , Figalli A.
Published: April 2020

We study optimal regularity and free boundary for minimizers of an energy functional arising in cohesive zone models for fracture mechanics. Under smoothness assumptions on the boundary conditions and on the fracture energy density, we show that minimizers are $$C^{1, 1/2}$$C1,1/2, and that near non-degenerate points the fracture set is $$C^{1, \alpha }$$C1,α, for some $$\alpha \in (0, 1)$$α∈(0,1).
A tale of autoimmunity: thymoma, thymectomy, and systemic lupus erythematosus
Authors: Mollaeian Arash , Haas Christopher
Published: April 2020

The thymus plays an integral role in immune system regulation, modulating the development, diversity, and selection of T lymphocytes, a critical feature for the prevention of T cell-mediated autoimmunity. Thymoma is a rare tumor of the thymus. Autoimmune diseases and paraneoplastic syndromes such as myasthenia gravis, pure red blood cell aplasia, and systemic lupus erythematosus, although relatively uncommon, have been described in association with thymomas. Rare cases of post-thymectomy autoimmune related diseases, including systemic lupus erythematosus and pure red cell aplasia, have been reported in the literature. Here, we present the case of a 65-year-old male who developed systemic lupus erythematosus 2 years after thymectomy in the setting of thymoma-associated pure red cell aplasia.
Impact of artificial intelligence adoption on online returns policies
Authors: Yang Guangyong , Ji Guojun , Tan Kim Hua
Published: April 2020

The shift to e-commerce has led to an astonishing increase in online sales for retailers. However, the number of returns made on online purchases is also increasing and have a profound impact on retailers’ operations and profit. Hence, retailers need to balance between minimizing and allowing product returns. This study examines an offline showroom versus an artificial intelligence (AI) online virtual-reality webroom and how the settings affect customers’ purchase and retailers’ return decisions. A case study is used to illustrate the AI application. Our results show that adopting artificial intelligence helps sellers to make better returns policies, maximize reselling returns, and reduce the risks of leftovers and shortages. Our findings unlock the potential of artificial intelligence applications in retail operations and should interest practitioners and researchers in online retailing, especially those concerned with online returns policies and the consumer personalized service experience.
A Note on Scalar-Gradient Sharpening in the Stable Atmospheric Boundary Layer
Authors: van Hooft J. Antoon
Published: April 2020

The scalar front generated by the horizontal self advection of a dipolar vortex through a modest scalar gradient is investigated. This physical scenario is an idealization of the emergence of strong temperature ramps in the stable atmospheric boundary layer. The proposed mechanism is discussed and a two-dimensional analogy is studied in depth using direct numerical simulation. More specifically, the scalar-gradient sharpening is investigated as a function of the Reynolds number. It appears that the process of gradient sharpening at large-eddy scales may be challenging for turbulence-resolving methods applied to the stable-boundary-layer regime.
Climate change, ecosystem services and migration in the Marshall Islands: are they related?
Authors: van der Geest Kees , Burkett Maxine , Fitzpatrick Juno , Stege Mark , Wheeler Brittany
Published: April 2020

As one of the lowest-lying island nation states in the world, the Republic of the Marshall Islands is vulnerable to sea level rise, flooding and the associated impacts on soil and water salinity. Persistent drought is further affecting agricultural production and access to drinking water, and heat stress is increasingly common. The number of Marshallese people residing in the USA has increased rapidly from 6650 in 2000 to an estimated 30,000 in 2018. While we know that climate change is already affecting the Marshall Islands and that there are significant migration flows, we do not know to what extent people already migrate because of climate change. This paper addresses this gap and presents findings from interdisciplinary fieldwork in the Marshall Islands and destination areas in the USA. The research team conducted a survey (N = 278), focus group discussions, expert interviews and a geo-spatial analysis of flood extent and migration rates to study the relationship between climatic events, ecosystem services and migration. The results show that respondents primarily cite education, health care, work and family visits as migration drivers, and only few mention climate impacts or environmental change. However, respondents do identify impacts of climate change on their livelihoods, health and safety, and the study finds significant correlations between climate impacts, trends in ecosystem services and migration propensities at household level. Furthermore, 62% of Marshallese respondents in the USA indicated that climate change affects their decision to return to Marshall Islands in the future.
On the judicial annulment of the ‘domestic’ trade moratorium in South African rhinoceros horn: a law and economics perspective
Authors: Collins Alan , Cox Caroline , Marire Juniours
Published: April 2020

The legalization of rhino horn ‘domestic’ trade in South Africa potentially unleashes market forces featuring new entry, new tastes and new rhino horn products. This risks escalating the rhino-poaching crisis further. It is argued that institutional contradictions have been engendered by the South African High Court ruling in Kruger and another v Minister of Water and Environmental Affairs and others [2015] JOL 34725, whose assumptions are shown to be highly restrictive and seemingly poorly informed about the true nature of demand for rhino horn and the dynamics of poaching. The shortcoming in the legal decision-making pertains to not taking account of the absence of any evidence for the existence of domestic demand for rhino horns in South Africa. The key arguments presented herein align with support for the reinstitution of the rhino horn trade moratorium, as well as administrative measures implemented effectively to contain the poaching crisis.
Schooling for Pupils with Autism Spectrum Disorder: Parents’ Perspectives
Authors: Anderson Lotta
Published: April 2020

The current study, based on a survey of 1799 parents, explored parental perspectives of school absence in relation to approved grades, challenges, demands and obstacles in education for children with autism spectrum disorder. The results revealed a relatively high rate of school absenteeism for reasons other than illness. Girls had higher rates of absenteeism than boys for short durations of absence. Absenteeism was primarily caused by a lack of teacher competence regarding autism and inadequate adaptation of teaching. There were no significant differences between genders in approved grades, but the rate of failure to achieve approved grades was approximately 50%. The most common form of educational support was support from special needs teachers and adapted pedagogy.
Counterurbanisation: why settled families move out of the city again
Authors: Karsten Lia
Published: April 2020

After decades of massive family suburbanisation, we have observed a steady increase in family households in various European capitals, including Amsterdam. Currently, the number of Amsterdam families is still increasing, however the number of families leaving the city is also growing and again on the rise. How can we explain this change, particularly for settled families that used to avoid outmigration? Empirical results are obtained from a qualitative study of urban middle class parents with children of primary school age who have recently moved out of Amsterdam. The results reveal that the shortage in the supply of family housing at a reasonable price for all families is the prime incentive to move. Underneath shared financial argumentations, however, we can distinguish three types of families that have specific motivations to move: pragmatic movers, displaced families and happy movers. The motivations to move are strongly related to different parental narratives of a ‘good childhood environment’. The results reveal further that the current displacement patterns are not only class-driven but include highly educated double-income family households. This paper ends with a short discussion of how to prevent cities from becoming homogeneous, rich non-family places.
Does the EQ-5D-5L benefit from extension with a cognitive domain: Testing a multi-criteria psychometric strategy in trauma patients
Authors: Geraerds A. J. L. M. , Bonsel Gouke J. , Polinder Suzanne , Panneman M. J. M. , Janssen M. F. , Haagsma Juanita A.
Published: April 2020

Purpose

This study investigated the psychometric yield of extension of the EQ-5D-5L with a cognitive domain (EQ-5D+C) in a mixed cohort of trauma patients with repeated data.

Methods

A stratified sample of patients that presented at the emergency department filled out a follow-up survey 6 and 12 months after trauma. The surveys included the EQ-5D-5L+C, EQ-VAS, and the impact of events scale-revised (IES-R), a validated post-traumatic stress disorder (PTSD) self-assessment scale. Generally, results of the EQ-5D and EQ-5D+C were compared. Psychometrics included the following: distributional features (ceiling/floor effects), discriminatory performance, convergent validity with the EQ-VAS as reference, and responsiveness to change. Psychometric properties were compared between predefined subgroups based on conditions with cognitive impact (Traumatic Brain Injury (TBI)/PTSD).

Results

In total, 1799 trauma patients responded 6 and 12 months after trauma, including 107 respondents with PTSD, and 273 with TBI. Six months post-trauma, ceiling of the EQ-5D (26.3%) was reduced with 2.2% with the additional cognitive domain. Using EQ-VAS as reference, convergent validity increased slightly with the addition of the cognitive domain: correlation increasing from 0.651 to 0.664. Cognitive level was found to slightly improve over time in TBI (delta: 0.04) and PTSD patients (delta: 0.05), while (almost) no change was found in patients without TBI and PTSD.

Conclusion

Adding a cognitive domain to the EQ-5D-5L slightly improved measurement properties and better captured change in health status for trauma patients with TBI and PTSD. Inclusion of the cognitive domain in the EQ-5D-5L when measuring in populations with cognitive problems should be considered.
Correction to: Sesquiterpenes with new carbon skeletons from the basidiomycete Phlebia tremellosa
Authors: Nakashima Ken-ichi , Tomida Junko , Hirai Takao , Kawamura Yoshiaki , Inoue Makoto
Published: April 2020

The article Sesquiterpenes with new carbon skeletons from the basidiomycete Phlebia tremellosa, written by Ken ichi Nakashima, Junko Tomida, Takao Hirai, Yoshiaki Kawamura and Makoto Inoue was originally published Online First without Open Access.
GaN 2DEG Varactor-Based Impulse Suppression Module for Protection Against Malicious Electromagnetic Interference
Authors: Shih Chien-Fu , Chang Liann-Be , Jeng Ming-Jer , Hsieh Yu-Li , Li Ying-Chang , Ding Zi-Xin
Published: April 2020

A GaN-based metal–semiconductor–metal varactor with a two-dimensional electron gas (2DEG) layer is proposed and fabricated. The capacitance variation of this fabricated varactor biased at different external voltages is studied and measured, and the frequency-dependent capacitance and resistance of the varactor are simulated by a corresponding empirical formula. A high-frequency protective filter is further constructed and placed under a large pulsed-current injection in a malicious electromagnetic interference immunity test. The results show that the proposed GaN-based module can reduce the large pulsed current to an acceptably small level. Thus, the GaN-based 2DEG varactor is an attractive candidate for applications designed to protect the upcoming 5G high-frequency system from risks such as electrostatic discharge, lightning, and electromagnetic pulses.
Performance of a Thermoelectric Module Based on n-Type (La0.12Sr0.88)0.95TiO3−δ and p-Type Ca3Co4−xO9+δ
Authors: Kanas Nikola , Skomedal Gunstein , Desissa Temesgen Debelo , Feldhoff Armin , Grande Tor , Wiik Kjell , Einarsrud Mari-Ann
Published: April 2020

Here, we present the performance of a thermoelectric (TE) module consisting of n-type (La0.12Sr0.88)0.95TiO3 and p-type Ca3Co4−xO9+δ materials. The main challenge in this investigation was operating the TE module in different atmospheric conditions, since n-type has optimum TE performance at reducing conditions, while p-type has optimum at oxidizing conditions. The TE module was exposed to two different atmospheres and demonstrated higher stability in N2 atmosphere than in air. The maximum electrical power output decreased after 40 h when the hot side was exposed to N2 at 600°C, while only 1 h at 400°C in ambient air was enough to oxidize (La0.12Sr0.88)0.95TiO3 followed by a reduced electrical power output. The module generated maximum electrical power of 0.9 mW (∼ 4.7 mW/cm2) at 600°C hot side and δT ∼ 570 K in N2, and 0.15 mW (∼ 0.8 mW/cm2) at 400°C hot side and δT ∼ 370 K in air. A stability limit of Ca3Co3.93O9+δ at ∼ 700°C in N2 was determined by in situ high-temperature x-ray diffraction.
Interaction of Skutterudites with Contact Materials: A Metallurgical Analysis
Authors: Grytsiv Andriy , Rogl Gerda , Bauer Ernst , Rogl Peter
Published: April 2020

More than hundred diffusion couples between p- and n-type skutterudites and various materials were prepared and interaction zones were investigated after heat treatment at 600 °C for 1100 h. The constitution of reaction/diffusion zones was discussed in terms of: (a) atom site preference in the skutterudite lattice, (b) phase equilibria in multicomponent systems and (c) particularities of the crystal structure of intermediate phases. It could be shown that phase composition and thermo-mechanical properties of bonding can be engineered by chemical substitution. The results obtained allowed the determination of several necessary criteria for the development of chemically and mechanically stable diffusion barriers/couples for skutterudite based thermoelectric (TE) modules.
BMAL1 regulates mitochondrial fission and mitophagy through mitochondrial protein BNIP3 and is critical in the development of dilated cardiomyopathy
Authors: Li Ermin , Li Xiuya , Huang Jie , Xu Chen , Liang Qianqian , Ren Kehan , Bai Aobing , Lu Chao , Qian Ruizhe , Sun Ning
Published: April 2020

Dysregulation of circadian rhythms associates with cardiovascular disorders. It is known that deletion of the core circadian gene Bmal1 in mice causes dilated cardiomyopathy. However, the biological rhythm regulation system in mouse is very different from that of humans. Whether BMAL1 plays a role in regulating human heart function remains unclear. Here we generated a BMAL1 knockout human embryonic stem cell (hESC) model and further derived human BMAL1 deficient cardiomyocytes. We show that BMAL1 deficient hESC-derived cardiomyocytes exhibited typical phenotypes of dilated cardiomyopathy including attenuated contractility, calcium dysregulation, and disorganized myofilaments. In addition, mitochondrial fission and mitophagy were suppressed in BMAL1 deficient hESC-cardiomyocytes, which resulted in significantly attenuated mitochondrial oxidative phosphorylation and compromised cardiomyocyte function. We also found that BMAL1 binds to the E-box element in the promoter region of BNIP3 gene and specifically controls BNIP3 protein expression. BMAL1 knockout directly reduced BNIP3 protein level, causing compromised mitophagy and mitochondria dysfunction and thereby leading to compromised cardiomyocyte function. Our data indicated that the core circadian gene BMAL1 is critical for normal mitochondria activities and cardiac function. Circadian rhythm disruption may directly link to compromised heart function and dilated cardiomyopathy in humans.
Conjugations in $$L^2$$ and their invariants
Authors: Câmara M. Cristina , Kliś–Garlicka Kamila , Łanucha Bartosz , Ptak Marek
Published: April 2020

Conjugations in space $$L^2$$

L
2

of the unit circle commuting with multiplication by z or intertwining multiplications by z and $${{\bar{z}}}$$

z

¯

are characterized. We also study their behaviour with respect to the Hardy space, subspaces invariant for the unilateral shift and model spaces.
Progress of research on dyslipidemia accompanied by nephrotic syndrome
Authors: Tao Min , Wang Hai‐Ping , Sun Jing , Tian Jing
Published: April 2020

Nephrotic syndrome is a relatively common clinical disease. Associated dyslipidemia is a risk factor for the occurrence and development of cardiovascular and renal diseases that might gradually develop into atherosclerosis, glomerulosclerosis or tubulointerstitial injury. It also confers an elevated risk of complications such as thromboembolism. If not properly controlled over the long term, dyslipidemia will become a key factor in a poor prognosis. Furthermore, dyslipidemia correlates with an increase in hepatic compensatory synthetic lipoprotein levels and a decrease in lipoprotein clearance, which can be sourced to the downregulation of hepatic and lipoprotein lipase activities in endothelial cells, muscle, and adipose tissue, and clinically characterized as hypertriglyceridemia or hypercholesterolemia. However, further investigations into the mechanism(s) of dyslipidemia are needed, with the resultant detailed perspectives and analyses substantially aiding the further development of treatment guidelines. Currently, statins represent the most popular type of pharmaceutical intervention because they lower hepatic cholesterol production and promote the absorption of low‐density lipoprotein‐cholesterol from the bloodstream, followed by second‐line and other potential therapies to regulate the expression of specific receptors.
Dysphagia after chemo‐radiation for nasopharyngeal cancer: A scoping review
Authors: Fong Raymond , Ward Elizabeth C. , Rumbach Anna F.
Published: April 2020

Objective

Nasopharyngeal cancer (NPC) has distinct characteristics regarding its global prevalence, initial presentation, management and patient outcomes compared to other subtypes of head and neck cancer (HNC). The mainstay of NPC treatment is chemo‐radiation (C/RT) and while dysphagia is a known early and late toxicity of C/RT treatment, the nature of dysphagia post NPC treatment has had limited investigation. The objective of this review is to summarise the existing evidence regarding dysphagia following NPC to inform the future research agenda for this population. Dysphagia incidence, characteristic deficits observed across the phases of swallowing, efficacy of current dysphagia interventions, and effect on quality of life will be explored.

Data sources

Databases including MEDLINE, CINAHL, Embase, Scopus and Web of Science were included.

Methods

A scoping review was conducted according to PRISMA‐ScR guidelines. Two independent reviewers screened selected full text articles.

Results

Of the initial 2495 articles found, 28 articles were included. Reports of penetration and aspiration varied widely (0%–91.6%), with high rates of silent aspiration identified in 2 studies (42%, 66%). Oral, pharyngeal and upper esophageal phase impairments were reported. Of these, upper esophageal stasis and multiple pharyngeal stage deficits were most prevalent. The pharyngeal constrictors were found to have a significant dose–effect relationship and shielding to the anterior neck field was effective to preserve swallowing function. Six treatment studies were identified with limited evidence supporting the use of neuromuscular electrical stimulation, dilatation and swallowing exercises. Quality of life was adversely affected.

Conclusions

Dysphagia is a prevalent early and late problem post NPC treatment, with impairments across all phases of the swallow. Studies on preventing dysphagia and treatment efficacy remain limited. More systematic study of the nature of dysphagia and the efficacy of treatment in this population is warranted.
Volumetric Characterization of the South Atlantic Subtropical Mode Water Types
Authors: Bernardo Piero S. , Sato Olga T.
Published: April 2020

Time series (2002–2018) of a global monthly objectively analyzed fields of temperature and salinity were used to investigate the South Atlantic subtropical mode water (SASTMW). It is characterized as homogeneous layers in the temperature range of 13 to 16 °C and with low potential vorticity. Three different types of SASTMW were distinguished allowing us to evaluate their temporal volumetric variation. Each type has its distinct spatial and temporal distribution patterns and consequently dissimilar volumetric variation. This variability is seen in the volume anomaly and turnover time of each type. To examine these differences we compared two rates: the water formation in a given temperature range due to heat flux and the mode water formation. The first (13.1±2.4 Sv) is higher than the second (10.2±2.0 Sv), showing that although heat flux is essential for the formation of SASTMW, there are other factors that influence each type differently.
Greenland Ice Sheet Contribution to 21st Century Sea Level Rise as Simulated by the Coupled CESM2.1‐CISM2.1
Authors: Muntjewerf Laura , Petrini Michele , Vizcaino Miren , Ernani da Silva Carolina , Sellevold Raymond , Scherrenberg Meike D. W. , Thayer‐Calder Katherine , Bradley Sarah L. , Lenaerts Jan T. M. , Lipscomb William H. , Lofverstrom Marcus
Published: April 2020

The Greenland Ice Sheet (GrIS) mass balance is examined with an Earth system/ice sheet model that interactively couples the GrIS to the broader Earth system. The simulation runs from 1850 to 2100, with historical and SSP5‐8.5 forcing. By the mid‐21st century, the cumulative GrIS contribution to global mean sea level rise (SLR) is 23 mm. During the second half of the 21st century, the surface mass balance becomes negative in all drainage basins, with an additional SLR contribution of 86 mm. The annual mean GrIS mass loss in the last two decades is 2.7‐mm sea level equivalent (SLE) year−1. The increased SLR contribution from the surface mass balance (3.1 mm SLE year−1) is partly offset by reduced ice discharge from thinning and retreat of outlet glaciers. The southern GrIS drainage basins contribute 73% of the mass loss in mid‐century but 55% by 2100, as surface runoff increases in the northern basins.
Antarctic Glacial Melt as a Driver of Recent Southern Ocean Climate Trends
Authors: Rye Craig D. , Marshall John , Kelley Maxwell , Russell Gary , Nazarenko Larissa S. , Kostov Yavor , Schmidt Gavin A. , Hansen James
Published: April 2020

Recent trends in Southern Ocean (SO) climate—of surface cooling, freshening, and sea ice expansion—are not captured in historical climate simulations. Here we demonstrate that the addition of a plausible increase in Antarctic meltwater to a coupled climate model can produce a closer match to a wide range of climate trends. We use an ensemble of simulations of the Goddard Institute for Space Studies Earth system model to compute “climate response functions” (CRFs) for the addition of meltwater. These imply a cooling and freshening of the SO, an expansion of sea ice, and an increase in steric height, all consistent with observations since 1992. The CRF framework allows one to compare the efficacy of Antarctic meltwater as a driver of SO climate trends, relative to greenhouse gas and surface wind forcing. The meltwater CRFs presented here strongly suggest that interactive Antarctic ice melt should be included in climate models.
Turbulence and Bed Load Transport in Channels With Randomly Distributed Emergent Patches of Model Vegetation
Authors: Shan Yuqi , Zhao Tian , Liu Chao , Nepf Heidi
Published: April 2020

Laboratory experiments explored the impact of vegetation patchiness on channel‐averaged turbulence and sediment transport. Stems were clustered into 16 randomly distributed circular patches of decreasing diameter. For the same channel velocity, the sediment transport increased with total stem number but decreased as stems were clustered into smaller patch diameters, occupying a smaller fraction of the bed area. The channel‐averaged turbulence, which also declined with increased clustering, was shown to be a good predictor for sediment transport at the channel scale. Previous models for uniform vegetation were adapted to predict both the channel‐averaged turbulence and sediment transport as a function of the total number of stems and degree of clustering, represented by the fraction of bed covered by patches. This provides a way for numerical modelers to represent the impact of subgrid‐scale vegetation patchiness on sediment transport.
Imbricated Aseismic Slip and Fluid Diffusion Drive a Seismic Swarm in the Corinth Gulf, Greece
Authors: De Barros Louis , Cappa Frédéric , Deschamps Anne , Dublanchet Pierre
Published: April 2020

The primary processes driving seismic swarms are still under debate. Here, we study the temporal evolution of a seismic swarm that occurred over a 10‐day period in October 2015 in the extensional rift of the Corinth Gulf (Greece) using high‐resolution earthquakes relocations. The seismicity radially migrates on a normal fault at a fluid diffusion velocity (~125 m/day). However, this migration occurs intermittently, with periods of fast expansion (2 to 10 km/day) during short seismic bursts alternating with quiescent periods. Moreover, the growing phases of the swarm illuminate a high number of repeaters. The swarm migration is likely the results of a combination of multiple driving processes. Fluid upflow in the fault may induce aseismic slip episodes, separated by phases of fluid pressure build‐up. The stress perturbation due to aseismic slip may activate small asperities that produce bursts of seismicity during the most intense phases of the swarm.
Inverted‐V Electron Acceleration Events Concurring With Localized Auroral Observations at Mars by MAVEN
Authors: Xu Shaosui , Mitchell David L. , McFadden James P. , Fillingim Matthew O. , Andersson Laila , Brain David A. , Weber Tristan , Schneider Nicholas M. , Jain Sonal , Fowler Christopher M. , Lillis Robert , Mazelle Christian , Espley Jared
Published: April 2020

From February to March 2019, the Mars Atmosphere and Volatile EvolutioN (MAVEN) spacecraft repeatedly observed aurora near periapsis over Mars' southern strong crustal fields. During these orbits, the Solar Wind Electron Analyzer observed accelerated electrons at similar locations to where the auroras were observed, resembling the inverted‐V structure observed near Earth's auroral region. In this study, we present a case study of such an acceleration event, where we estimate a field‐aligned electrostatic potential drop of ∼440 V. We determine the field‐aligned current from the observed magnetic perturbation reaches 1.1 μA/m2, agreeing reasonably well with the estimated net electron current carried by acceleration electrons with a maximum of 2.5 μA/m2. Similar to Earth, the potential drop develops when the ambient plasma cannot sustain the imposed field‐aligned current. We also estimate the potential layer to be located above 750‐ to 850‐km altitude and the associated electric field to be ∼0.6 V/m.
Progressive Dissolution of Titanomagnetite in High‐Temperature Hydrothermal Vents Dramatically Reduces Magnetization of Basaltic Ocean Crust
Authors: Wang Shishun , Chang Liao , Wu Tao , Tao Chunhui
Published: April 2020

Hydrothermal alteration at high‐temperature vents near mid‐ocean ridge is thought to produce pervasive magnetization lows on basaltic ocean crust, but the detailed alteration process is insufficiently documented. Here, we performed microscopic and magnetic analyses on a large set of hydrothermal‐related basaltic samples from the Southwest Indian Ridge. Fresh basalts were chloritized and brecciated during hydrothermal alteration, where titanomagnetite nanoparticle clusters hosted in interstitial glasses were dissolved in the first order, followed by large micron‐scale dendritic particles. Natural remanent magnetization was reduced from 100–101 A/m for fresh basalts to 10−3 A/m for fully altered basalts. Hydrothermal deposits acquired a chemical remanent magnetization of 10−2 A/m. Our results link direct magneto‐mineralogical observations to geophysical interpretations, which is important in understanding seafloor hydrothermal circulation and mid‐ocean ridge geodynamics.
A multi-batch design to deliver robust estimates of efficacy and reduce animal use – a syngeneic tumour case study
Authors: Karp Natasha A. , Wilson Zena , Stalker Eve , Mooney Lorraine , Lazic Stanley E. , Zhang Bairu , Hardaker Elizabeth
Published: April 2020

Phenotypic plasticity, the ability of a living organism to respond to the environment, can lead to conclusions from experiments that are idiosyncratic to a particular environment. The level of environmental responsiveness can result in difficulties in reproducing studies from the same institute with the same standardised environment. Here we present a multi-batch approach to in-vivo studies to improve replicability of the results for a defined environment. These multi-batch experiments consist of small independent mini-experiments where the data are combined in an integrated data analysis to appropriately assess the treatment effect after accounting for the structure in the data. We demonstrate the method on two case studies with syngeneic tumour models which are challenging due to high variability both within and between studies. Through simulations and discussions, we explore several data analysis options and the optimum design that balances practical constraints of working with animals versus sensitivity and replicability. Through the increased confidence from the multi-batch design, we reduce the need to replicate the experiment, which can reduce the total number of animals used.
A novel flow cytometry assay based on bacteriophage-derived proteins for Staphylococcus detection in blood
Authors: Costa Susana P. , Dias Nicolina M. , Melo Luís D. R. , Azeredo Joana , Santos Sílvio B. , Carvalho Carla M.
Published: April 2020

Bloodstream infections (BSIs) are considered a major cause of death worldwide. Staphylococcus spp. are one of the most BSIs prevalent bacteria, classified as high priority due to the increasing multidrug resistant strains. Thus, a fast, specific and sensitive method for detection of these pathogens is of extreme importance. In this study, we have designed a novel assay for detection of Staphylococcus in blood culture samples, which combines the advantages of a phage endolysin cell wall binding domain (CBD) as a specific probe with the accuracy and high-throughput of flow cytometry techniques. In order to select the biorecognition molecule, three different truncations of the C-terminus of Staphylococcus phage endolysin E-LM12, namely the amidase (AMI), SH3 and amidase+SH3 (AMI_SH3) were cloned fused with a green fluorescent protein. From these, a higher binding efficiency to Staphylococcus cells was observed for AMI_SH3, indicating that the amidase domain possibly contributes to a more efficient binding of the SH3 domain. The novel phage endolysin-based flow cytometry assay provided highly reliable and specific detection of 1–5 CFU of Staphylococcus in 10 mL of spiked blood, after 16 hours of enrichment culture. Overall, the method developed herein presents advantages over the standard BSIs diagnostic methods, potentially contributing to an early and effective treatment of BSIs.
Non-random sampling leads to biased estimates of transcriptome association
Authors: Foulkes A. S. , Balasubramanian R. , Qian J. , Reilly M. P.
Published: April 2020

Integration of independent data resources across -omics platforms offers transformative opportunity for novel clinical and biological discoveries. However, application of emerging analytic methods in the context of selection bias represents a noteworthy and pervasive challenge. We hypothesize that combining differentially selected samples for integrated transcriptome analysis will lead to bias in the estimated association between predicted expression and the trait. Our results are based on in silico investigations and a case example focused on body mass index across four well-described cohorts apparently derived from markedly different populations. Our findings suggest that integrative analysis can lead to substantial relative bias in the estimate of association between predicted expression and the trait. The average estimate of association ranged from 51.3% less than to 96.7% greater than the true value for the biased sampling scenarios considered, while the average error was − 2.7% for the unbiased scenario. The corresponding 95% confidence interval coverage rate ranged from 46.4% to 69.5% under biased sampling, and was equal to 75% for the unbiased scenario. Inverse probability weighting with observed and estimated weights is applied as one corrective measure and appears to reduce the bias and improve coverage. These results highlight a critical need to address selection bias in integrative analysis and to use caution in interpreting findings in the presence of different sampling mechanisms between groups.
Differential impact on motility and biofilm dispersal of closely related phosphodiesterases in Pseudomonas aeruginosa
Authors: Cai Yu-ming , Hutchin Andrew , Craddock Jack , Walsh Martin A. , Webb Jeremy S. , Tews Ivo
Published: April 2020

In Pseudomonas aeruginosa, the transition between planktonic and biofilm lifestyles is modulated by the intracellular secondary messenger cyclic dimeric-GMP (c-di-GMP) in response to environmental conditions. Here, we used gene deletions to investigate how the environmental stimulus nitric oxide (NO) is linked to biofilm dispersal, focusing on biofilm dispersal phenotype from proteins containing putative c-di-GMP turnover and Per-Arnt-Sim (PAS) sensory domains. We document opposed physiological roles for the genes ΔrbdA and Δpa2072 that encode proteins with identical domain structure: while ΔrbdA showed elevated c-di-GMP levels, restricted motility and promoted biofilm formation, c-di-GMP levels were decreased in Δpa2072, and biofilm formation was inhibited, compared to wild type. A second pair of genes, ΔfimX and ΔdipA, were selected on the basis of predicted impaired c-di-GMP turnover function: ΔfimX showed increased, ΔdipA decreased NO induced biofilm dispersal, and the genes effected different types of motility, with reduced twitching for ΔfimX and reduced swimming for ΔdipA. For all four deletion mutants we find that NO-induced biomass reduction correlates with increased NO-driven swarming, underlining a significant role for this motility in biofilm dispersal. Hence P. aeruginosa is able to differentiate c-di-GMP output using structurally highly related proteins that can contain degenerate c-di-GMP turnover domains.