bluuebunny/crossref_metadata_2025_split huggingface dataset:
Parent of origin genetic effects on methylation in humans are common and influence complex trait variation
Authors: Zeng Yanni , Amador Carmen , Xia Charley , Marioni Riccardo , Sproul Duncan , Walker Rosie M. , Morris Stewart W. , Bretherick Andrew , Canela-Xandri Oriol , Boutin Thibaud S. , Clark David W. , Campbell Archie , Rawlik Konrad , Hayward Caroline , Nagy Reka , Tenesa Albert , Porteous David J. , Wilson James F. , Deary Ian J. , Evans Kathryn L. , McIntosh Andrew M. , Navarro Pau , Haley Chris S. 
Published: March 2019

AbstractParent-of-origin effects (POE) exist when there is differential expression of alleles inherited from the two parents. A genome-wide scan for POE on DNA methylation at 639,238 CpGs in 5,101 individuals identifies 733 independent methylation CpGs potentially influenced by POE at a false discovery rate ≤ 0.05 of which 331 had not previously been identified. Cis and trans methylation quantitative trait loci (mQTL) regulate methylation variation through POE at 54% (399/733) of the identified POE-influenced CpGs. The combined results provide strong evidence for previously unidentified POE-influenced CpGs at 171 independent loci. Methylation variation at 14 of the POE-influenced CpGs is associated with multiple metabolic traits. A phenome-wide association analysis using the POE mQTL SNPs identifies a previously unidentified imprinted locus associated with waist circumference. These results provide a high resolution population-level map for POE on DNA methylation sites, their local and distant regulators and potential consequences for complex traits.
Upconversion amplification through dielectric superlensing modulation
Authors: Liang Liangliang , Teh Daniel B. L. , Dinh Ngoc-Duy , Chen Weiqiang , Chen Qiushui , Wu Yiming , Chowdhury Srikanta , Yamanaka Akihiro , Sum Tze Chien , Chen Chia-Hung , Thakor Nitish V. , All Angelo H. , Liu Xiaogang 
Published: March 2019

AbstractAchieving efficient photon upconversion under low irradiance is not only a fundamental challenge but also central to numerous advanced applications spanning from photovoltaics to biophotonics. However, to date, almost all approaches for upconversion luminescence intensification require stringent controls over numerous factors such as composition and size of nanophosphors. Here, we report the utilization of dielectric microbeads to significantly enhance the photon upconversion processes in lanthanide-doped nanocrystals. By modulating the wavefront of both excitation and emission fields through dielectric superlensing effects, luminescence amplification up to 5 orders of magnitude can be achieved. This design delineates a general strategy to converge a low-power incident light beam into a photonic hotspot of high field intensity, while simultaneously enabling collimation of highly divergent emission for far-field accumulation. The dielectric superlensing-mediated strategy may provide a major step forward in facilitating photon upconversion processes toward practical applications in the fields of photobiology, energy conversion, and optogenetics.
Bacterial AB5 toxins inhibit the growth of gut bacteria by targeting ganglioside-like glycoconjugates
Authors: Patry Robert T. , Stahl Martin , Perez-Munoz Maria Elisa , Nothaft Harald , Wenzel Cory Q. , Sacher Jessica C. , Coros Colin , Walter Jens , Vallance Bruce A. , Szymanski Christine M. 
Published: March 2019

AbstractThe AB5 toxins cholera toxin (CT) from Vibrio cholerae and heat-labile enterotoxin (LT) from enterotoxigenic Escherichia coli are notorious for their roles in diarrheal disease, but their effect on other intestinal bacteria remains unexplored. Another foodborne pathogen, Campylobacter jejuni, can mimic the GM1 ganglioside receptor of CT and LT. Here we demonstrate that the toxin B-subunits (CTB and LTB) inhibit C. jejuni growth by binding to GM1-mimicking lipooligosaccharides and increasing permeability of the cell membrane. Furthermore, incubation of CTB or LTB with a C. jejuni isolate capable of altering its lipooligosaccharide structure selects for variants lacking the GM1 mimic. Examining the chicken GI tract with immunofluorescence microscopy demonstrates that GM1 reactive structures are abundant on epithelial cells and commensal bacteria, further emphasizing the relevance of this mimicry. Exposure of chickens to CTB or LTB causes shifts in the gut microbial composition, providing evidence for new toxin functions in bacterial gut competition.
A propensity-matched study of the association between optimal folic acid supplementation and birth defects in Shaanxi province, Northwestern China
Authors: Qu Pengfei , Li Shanshan , Liu Danmeng , Lei Fangliang , Zeng Lingxia , Wang Duolao , Yan Hong , Shi Wenhao , Shi Juanzi , Dang Shaonong 
Published: March 2019

AbstractThe association between folic acid supplementation and birth defects other than neural tube defects remains unclear. We utilized data from a large population-based survey to examine the association between folic acid supplementation and birth defects in Northwestern China. A total of 29,204 women with infants born between 2010 and 2013 were surveyed in Shaanxi province, Northwestern China, using a stratified multistage sampling method. Propensity scores were used to match 9,293 women with optimal folic acid supplementation with 9,293 women with nonoptimal folic acid supplementation, and the effects of optimal folic acid supplementation on birth defects were assessed by a conditional logistic regression model. After propensity score matching, the overall birth defect rate, cardiovascular system defect rate and nervous system defect rate for the women with optimal folic acid supplementation were lower than those for the women with nonoptimal folic acid supplementation (overall birth defects: OR = 0.71, 95% CI = 0.57–0.89, P = 0.003; cardiovascular system defects: OR = 0.65, 95% CI = 0.44–0.96, P = 0.032; nervous system defects: OR = 0.13, 95% CI = 0.02–0.99, P = 0.049). Optimal folic acid supplementation was associated with a decreased prevalence of birth defects, especially in the cardiovascular system and nervous system. Our findings have important implications for birth defect intervention with folic acid supplementation for countries with a high prevalence of birth defects, such as China.
Response of fluorescence morphs of the mesophotic coral Euphyllia paradivisa to ultra-violet radiation
Authors: Ben-Zvi Or , Eyal Gal , Loya Yossi 
Published: March 2019

AbstractEuphyllia paradivisa is a strictly mesophotic coral in the reefs of Eilat that displays a striking color polymorphism, attributed to fluorescent proteins (FPs). FPs, which are used as visual markers in biomedical research, have been suggested to serve as photoprotectors or as facilitators of photosynthesis in corals due to their ability to transform light. Solar radiation that penetrates the sea includes, among others, both vital photosynthetic active radiation (PAR) and ultra-violet radiation (UVR). Both types, at high intensities, are known to have negative effects on corals, ranging from cellular damage to changes in community structure. In the present study, fluorescence morphs of E. paradivisa were used to investigate UVR response in a mesophotic organism and to examine the phenomenon of fluorescence polymorphism. E. paradivisa, although able to survive in high-light environments, displayed several physiological and behavioral responses that indicated severe light and UVR stress. We suggest that high PAR and UVR are potential drivers behind the absence of this coral from shallow reefs. Moreover, we found no significant differences between the different fluorescence morphs’ responses and no evidence of either photoprotection or photosynthesis enhancement. We therefore suggest that FPs in mesophotic corals might have a different biological role than that previously hypothesized for shallow corals.
Ultrasound Imaging Reveals Accelerated In-utero Development of a Sensory Apparatus in Echolocating Bats
Authors: Amichai Eran , Tal Smadar , Boonman Arjan , Yovel Yossi 
Published: March 2019

AbstractOrgan development, both in-utero and after birth, follows a different path for every organ depending upon how early the newborn will use it. Perception of the environment using echolocation occurs very early in the life of neonatal bats. In nostril-emitting echolocating bats of the families Hipposideridae and Rhinolophidae, the shape and area of the nasal-horseshoe is crucial for echolocation emission. We therefore hypothesized that most of this organ’s ontogeny will be completed in-utero while skull and wings will develop slower and continue their growth after birth. We used intrauterine ultrasonography of pregnant females, and measured newborn Asellia tridens (Hipposideridae) to test our hypothesis at different stages of ontogeny. We found that horseshoe development is completed in-utero and neonates begin emitting precursor echolocation calls already two days after birth. In contrast, skull and forearm only develop to 70% and 40% of adult size (respectively), and continue development after birth.
Cytometric cell-based assays for anti-striational antibodies in myasthenia gravis with myositis and/or myocarditis
Authors: Kufukihara Kenji , Watanabe Yurika , Inagaki Takashi , Takamatsu Koutaro , Nakane Shunya , Nakahara Jin , Ando Yukio , Suzuki Shigeaki 
Published: March 2019

AbstractThe purposes of the present study were to identify anti-striational antibodies in myasthenia gravis (MG) patients with myositis and/or myocarditis using a combination of cell-based assays and flow cytometry (cytometric cell-based assays) and to describe the main clinical implications. Among 2,609 stored samples collected from all over Japan between 2003 and 2016, we had serum samples from 30 MG patients with myositis and/or myocarditis. Cytometric cell-based assays with titin, ryanodine receptor, and voltage-gated Kv1.4 were performed. Autoantibodies were determined by differences in phycoerythin fluorescence between the 293F cells and titin-transfected cells. MG patients with myositis and/or myocarditis as well as late-onset and thymoma-associated MG had anti-titin, anti-ryanodine receptor, and anti-Kv1.4 antibodies. In contrast, patients with early-onset MG, those with other myopathies and healthy controls did not have anti-titin or anti-Kv1.4 antibodies with some exceptions, but they possessed anti-ryanodine receptor antibodies. Thirty MG patients with myositis and/or myocarditis showed a severe generalized form, and 21 of them had thymoma. Anti-titin and anti-Kv1.4 antibodies were found in 28 (93%) and 15 (50%) patients, respectively, and all patients had at least one of these antibodies. Cytometric cell-based assays thus demonstrated that anti-striational antibodies are biomarkers of MG with myositis and/or myocarditis.
Liquid Embolic Agents in Spectral X-Ray Photon-Counting Computed Tomography using Tantalum K-Edge Imaging
Authors: Riederer Isabelle , Bar-Ness Daniel , Kimm Melanie A. , Si-Mohamed Salim , Noël Peter B. , Rummeny Ernst J. , Douek Philippe , Pfeiffer Daniela 
Published: March 2019

AbstractThe aim was to evaluate the potential of Spectral Photon-Counting Computed Tomography (SPCCT) to differentiate between liquid embolic agents and iodinated contrast medium by using tantalum-characteristic K-edge imaging. Tubes with a concentration series of tantalum and inserts with different concentrations of iodine were scanned with a preclinical SPCCT system. Tantalum density maps (TDM) and iodine density maps (IDM) were generated from a SPCCT acquisition. Furthermore, region-of-interest (ROI) analysis was performed within the tubes in the conventional CT, the TDM and IDM. TDM and IDM enable clear differentiation between both substances. Quantitative measurements of different tantalum concentrations match well with those of actually diluted mixtures. SPCCT allows for differentiation between tantalum and iodine and may enable for an improved follow-up diagnosis in patients after vascular occlusion therapy.
“Climatic fluctuations in the hyperarid core of the Atacama Desert during the past 215 ka”
Authors: Ritter Benedikt , Wennrich Volker , Medialdea Alicia , Brill Dominik , King Georgina , Schneiderwind Sascha , Niemann Karin , Fernández-Galego Emma , Diederich Julia , Rolf Christian , Bao Roberto , Melles Martin , Dunai Tibor J. 
Published: March 2019

AbstractPaleoclimate records from the Atacama Desert are rare and mostly discontinuous, mainly recording runoff from the Precordillera to the east, rather than local precipitation. Until now, paleoclimate records have not been reported from the hyperarid core of the Atacama Desert (<2 mm/yr). Here we report the results from multi-disciplinary investigation of a 6.2 m drill core retrieved from an endorheic basin within the Coastal Cordillera. The record spans the last 215 ka and indicates that the long-term hyperarid climate in the Central Atacama witnessed small but significant changes in precipitation since the penultimate interglacial. Somewhat ‘wetter’ climate with enhanced erosion and transport of material into the investigated basin, commenced during interglacial times (MIS 7, MIS 5), whereas during glacial times (MIS 6, MIS 4–1) sediment transport into the catchment was reduced or even absent. Pelagic diatom assemblages even suggest the existence of ephemeral lakes in the basin. The reconstructed wetter phases are asynchronous with wet phases in the Altiplano but synchronous with increased sea-surface temperatures off the coasts of Chile and Peru, i.e. resembling modern El Niño-like conditions.
Histone deacetylase inhibitors restore normal hippocampal synaptic plasticity and seizure threshold in a mouse model of Tuberous Sclerosis Complex
Authors: Basu Trina , O’Riordan Kenneth J. , Schoenike Barry A. , Khan Nadia N. , Wallace Eli P. , Rodriguez Genesis , Maganti Rama K. , Roopra Avtar 
Published: March 2019

AbstractAbnormal synaptic plasticity has been implicated in several neurological disorders including epilepsy, dementia and Autism Spectrum Disorder (ASD). Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder that manifests with seizures, autism, and cognitive deficits. The abnormal intracellular signaling underlying TSC has been the focus of many studies. However, nothing is known about the role of histone modifications in contributing to the neurological manifestations in TSC. Dynamic regulation of chromatin structure via post translational modification of histone tails has been implicated in learning, memory and synaptic plasticity. Histone acetylation and associated gene activation plays a key role in plasticity and so we asked whether histone acetylation might be dysregulated in TSC. In this study, we report a general reduction in hippocampal histone H3 acetylation levels in a mouse model of TSC2. Pharmacological inhibition of Histone Deacetylase (HDAC) activity restores histone H3 acetylation levels and ameliorates the aberrant plasticity in TSC2+/− mice. We describe a novel seizure phenotype in TSC2+/− mice that is also normalized with HDAC inhibitors (HDACis). The results from this study suggest an unanticipated role for chromatin modification in TSC and may inform novel therapeutic strategies for TSC patients.
Measurement of heart rate variability and cognitive abilities based on attachment styles in children with chronic medical conditions
Authors: Ghafarimoghadam Fahime , Dehghani-Arani Fateme 
Published: March 2019

AbstractRecognizing the biopsychosocial dimensions of chronic medical conditions in children and preparing them to adapt to medical processes is one of the most significant issues in the field of health psychology. The aim of this study was to measure heart rate variability and cognitive abilities based on attachment style in children with chronic medical conditions. To this end, 45 children aged 12–15 years who had received a diagnosis of a chronic medical disease and were matched with the inclusion/exclusion criteria, were entered the study using available sampling method. These children were assigned to three groups of secure, avoidance and anxiety attachment style based on the Collins and Reid Attachment Scale. These groups had been demographically homogeneous. Then heart rate variability and cognitive abilities were measured. One-way ANOVA results showed a significant difference between the three groups in the heart rate variability and cognitive abilities. Post hoc test showed that children with secure attachment style had higher efficiency in heart rate variability and cognitive abilities. These results indicate that attachment style is one of the factors influencing the health status of children with chronic medical illness. These findings highlight the importance of paying attention to psychological factors, especially attachment and its role in the health status of children with chronic medical conditions.
Stabilisation of tetragonal FeCo structure with high magnetic anisotropy by the addition of V and N elements
Authors: Hasegawa Takashi , Niibori Takuya , Takemasa Yusuke , Oikawa Mitsuaki 
Published: March 2019

AbstractThe development of magnetic materials with high saturation magnetization (Ms) and uniaxial magnetic anisotropy (Ku) is required for the realisation of high-performance permanent magnets capable of reducing the power consumption of motors and data storage devices. Although FeCo-based materials with the body-centred cubic structure (bcc) exhibit the highest Ms values among various transition metal alloys, their low Ku magnitudes makes them unsuitable for permanent magnets. Recent first-principles calculations and experimental studies revealed that the epitaxial FeCo thin films with the body-centred tetragonal (bct) structure and thicknesses of several nanometres exhibited Ku values of 106 J·m−3 due to epitaxial stress, which required further stabilisation. In this work, the FeCo lattice stabilised via VN addition were characterised by high Ku magnitudes exceeding 106 J·m−3. The obtained bct structure remained stable even for the films with thicknesses of 100 nm deposited on an amorphous substrate, suggesting its possible use in bulk systems.
Power shift‐based optimal corrective control for bipolar multi‐terminal high‐voltage direct current grid
Authors: Ye Hua , Li Jiahong , He Min , Liu Yutian , Gao Lei , Du Yanling , Liu Haitao 
Published: March 2019

The bipolar modular multi‐level converter‐based multi‐terminal high voltage direct current (MTDC) grid offers an attractive solution to cope with the increased renewable power generation integration and power transfer capability. However, the N − 1 outage of direct current transmission lines and converters may result in overloads of other components and renewable power generation congestion. This study presents a power shift‐based optimal corrective control method to guarantee the operational security of the system with bipolar MTDC grid embedded. First, the principle of power shift in the bipolar MTDC grid is analysed. The grid features in isolated positive and negative poles and can provide up to 50% transmission redundancy. Following an N − 1 contingency, certain power can be shifted from the faulty pole to the healthy pole or between different converter stations. Second, two optimisation models are, respectively, established for the MTDC and alternating current grids to address the power shift‐based optimal corrective control. The proposed method guarantees operational security of the system while the amount of renewable power generation accommodation by the MTDC grid is maximised. Finally, the method is applied to the real‐life Zhangbei ±500 kV four‐terminal bipolar high‐voltage direct current grid. Numerical results and electromagnetic transient simulation verify the effectiveness of the presented method.
Akute makuläre Neuroretinopathie
Authors: Wyss Anja , Rüesch Reinhard , Schwizer Nicole , Heckmann Jan , Zawinka Claudia , Sturm Veit 
Published: March 2019

Zusammenfassung
Hintergrund Die akute makuläre Neuroretinopathie (AMNR) ist eine seltene, ein- oder beidseitige Erkrankung der Makula. Betroffene Patienten, zumeist junge Frauen, beklagen plötzlich aufgetretene Zentralskotome. Diese korrespondieren mit scharf begrenzten rötlich-braunen makulären Läsionen. Ophthalmoskopisch sind sie häufig kaum auszumachen, eine deutlich bessere Darstellung erlaubt das Infrarotreflexionsbild. Es zeigt sich eine oft blütenartige Gruppierung der flachen ovalen oder keilförmigen Einzelläsionen um die Fovea.
Patienten und Methoden Retrospektive Fallserie von 4 Patienten mit AMNR. Die klinisch-morphologischen Merkmale werden unter Berücksichtigung verschiedener bildgebender Verfahren demonstriert.
Ergebnisse 4 junge Frauen (26, 27, 28, 29 Jahre) bemerkten plötzlich aufgetretene Flecken im zentralen Gesichtsfeld. In 3 Fällen bestanden diese beidseits. Drei Frauen berichteten über grippale Prodromi. Bei allen 4 Patientinnen zeigten sich bei voller Sehschärfe unauffällige vordere und hintere Augenabschnitte. Die korrespondierenden retinalen Läsionen wurden erst in der Infrarotaufnahme der optischen Kohärenztomografie (OCT) entdeckt. In der OCT zeigten sich im Läsionsbereich dezente Defekte im Bereich der Fotorezeptoraußensegmente. Die Nachbeobachtungszeit betrug zwischen 9 und 36 Monaten. Es zeigte sich bei allen Patientinnen eine Regredienz der Symptomatik mit zumindest partieller Erholung der Netzhautarchitektur.
Schlussfolgerung Patienten mit AMNR erleben plötzlich auftretende ein- oder beidseitige Skotome im zentralen Gesichtsfeld bei oft nur geringer Beeinträchtigung der Sehschärfe. Die Prognose ist unterschiedlich; so gibt es Verlaufsformen mit Selbstlimitierung und völliger Regredienz der Läsionen, aber auch persistierende Visusreduktionen. Bei fehlender kausaler Therapieoption wird zumeist ein exspektatives Management favorisiert.
Comparison of subjective evaluation versus objective
algorithm in the interpretation of follow-up FDG-PET/CT scans after
radiochemotherapy in head and neck cancer patients
Authors: Kohler Alexander , Löck Steffen , Appold Steffen , Bandurska-Luque Anna , Hoberück Sebastian , Schreiber Andreas , Kotzerke Jörg , Zips Daniel , Zöphel Klaus 
Published: March 2019

Abstract
Aim Retrospective evaluation of serial FDG-PET/CT scans in head and neck
squamous cell cancer (HNSCC) patient’s follow-up after primary radiochemotherapy
(RCTx), to assess the diagnostic accuracy of an experienced observer vs. an
objective classification compared to standard clinical follow-up
examinations.
Methods Sixty-nine patients with locally advanced HNSCC were included, who
received curative RCTx. Follow-up included serial FDG-PET/CT at the following
time intervals t1: ≤ 270 d, t2: 271–540 d, t3: > 540 d after curative RCTx.
The likelihood to detect local recurrences, nodal and distant metastases were
compared between (i) experienced observer, (ii) an objective classification
system by Zundel et al. 25, and (iii) routine
clinical follow-up examinations.
Results Twenty-two local recurrences, 7 nodal and 17 distant metastases
were recorded during the follow-up. The diagnostic accuracy for local recurrence
of the experienced observer vs. objective classification was 78 % vs. 77 % for
t1, 83 % vs. 79 % for t2 and 100 % vs. 84 % for t3.The classification (ii) and the conventional follow-up (iii) resulted in a
relatively high amount of equivocal findings reducing the diagnostic
accuracy.
Conclusion Evaluation of FDG-PET/CT by an experienced observer in
follow-up of HNSCC patients after curative RCTx resulted in the highest
diagnostic accuracy in comparison to an objective classification and to routine
clinical examination.HNSCC is a malignant tumor with a high likelihood of recurrence, especially in
the first two years after curative RCTx. Early detection of recurrence is of
high clinical importance, since there are several effective second line
therapies that may have curative potential in some patients.