bluuebunny/crossref_metadata_2025_split huggingface dataset:
Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size
Authors: Sun Daqiang , Ching Christopher R. K. , Lin Amy , Forsyth Jennifer K. , Kushan Leila , Vajdi Ariana , Jalbrzikowski Maria , Hansen Laura , Villalon-Reina Julio E. , Qu Xiaoping , Jonas Rachel K. , van Amelsvoort Therese , Bakker Geor , Kates Wendy R. , Antshel Kevin M. , Fremont Wanda , Campbell Linda E. , McCabe Kathryn L. , Daly Eileen , Gudbrandsen Maria , Murphy Clodagh M. , Murphy Declan , Craig Michael , Vorstman Jacob , Fiksinski Ania , Koops Sanne , Ruparel Kosha , Roalf David R. , Gur Raquel E. , Schmitt J. Eric , Simon Tony J. , Goodrich-Hunsaker Naomi J. , Durdle Courtney A. , Bassett Anne S. , Chow Eva W. C. , Butcher Nancy J. , Vila-Rodriguez Fidel , Doherty Joanne , Cunningham Adam , van den Bree Marianne B.M. , Linden David E. J. , Moss Hayley , Owen Michael J. , Murphy Kieran C. , McDonald-McGinn Donna M. , Emanuel Beverly , van Erp Theo G. M. , Turner Jessica A. , Thompson Paul M. , Bearden Carrie E. 
Published: June 2018

AbstractThe 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or neuroanatomic effects of variability in deletion size. To address these issues, we developed the ENIGMA (Enhancing Neuro Imaging Genetics Through Meta-Analysis) 22q11.2 Working Group, representing the largest analysis of brain structural alterations in 22q11DS to date. The imaging data were collected from 10 centers worldwide, including 474 subjects with 22q11DS (age = 18.2 ± 8.6; 46.9% female) and 315 typically developing, matched controls (age = 18.0 ± 9.2; 45.9% female). Compared to controls, 22q11DS individuals showed thicker cortical gray matter overall (left/right hemispheres: Cohen’s d = 0.61/0.65), but focal thickness reduction in temporal and cingulate cortex. Cortical surface area (SA), however, showed pervasive reductions in 22q11DS (left/right hemispheres: d = −1.01/−1.02). 22q11DS cases vs. controls were classified with 93.8% accuracy based on these neuroanatomic patterns. Comparison of 22q11DS-psychosis to idiopathic schizophrenia (ENIGMA-Schizophrenia Working Group) revealed significant convergence of affected brain regions, particularly in fronto-temporal cortex. Finally, cortical SA was significantly greater in 22q11DS cases with smaller 1.5 Mb deletions, relative to those with typical 3 Mb deletions. We found a robust neuroanatomic signature of 22q11DS, and the first evidence that deletion size impacts brain structure. Psychotic illness in this highly penetrant deletion was associated with similar neuroanatomic abnormalities to idiopathic schizophrenia. These consistent cross-site findings highlight the homogeneity of this single genetic etiology, and support the suitability of 22q11DS as a biological model of schizophrenia.
Identification of an immune gene expression signature associated with favorable clinical features in Treg-enriched patient tumor samples
Authors: Givechian Kevin B. , Wnuk Kamil , Garner Chad , Benz Stephen , Garban Hermes , Rabizadeh Shahrooz , Niazi Kayvan , Soon-Shiong Patrick 
Published: June 2018

AbstractImmune heterogeneity within the tumor microenvironment undoubtedly adds several layers of complexity to our understanding of drug sensitivity and patient prognosis across various cancer types. Within the tumor microenvironment, immunogenicity is a favorable clinical feature in part driven by the antitumor activity of CD8+ T cells. However, tumors often inhibit this antitumor activity by exploiting the suppressive function of regulatory T cells (Tregs), thus suppressing the adaptive immune response. Despite the seemingly intuitive immunosuppressive biology of Tregs, prognostic studies have produced contradictory results regarding the relationship between Treg enrichment and survival. We therefore analyzed RNA-seq data of Treg-enriched tumor samples to derive a pan-cancer gene signature able to help reconcile the inconsistent results of Treg studies, by better understanding the variable clinical association of Tregs across alternative tumor contexts. We show that increased expression of a 32-gene signature in Treg-enriched tumor samples (n = 135) is able to distinguish a cohort of patients associated with chemosensitivity and overall survival. This cohort is also enriched for CD8+ T cell abundance, as well as the antitumor M1 macrophage subtype. With a subsequent validation in a larger TCGA pool of Treg-enriched patients (n = 626), our results reveal a gene signature able to produce unsupervised clusters of Treg-enriched patients, with one cluster of patients uniquely representative of an immunogenic tumor microenvironment. Ultimately, these results support the proposed gene signature as a putative biomarker to identify certain Treg-enriched patients with immunogenic tumors that are more likely to be associated with features of favorable clinical outcome.
Interleukin-10 polymorphisms affect the key periodontal pathogens in Chinese periodontitis patients
Authors: Geng Ying , Li Lu , Wang Xiaoqian , He Fanzhen , Zhou Yi , Yang Mifang , Xu Yan 
Published: June 2018

AbstractInterleukin-10 (IL-10) polymorphisms have been shown to affect IL-10 production. This study investigated the influences of IL-10 polymorphisms on the susceptibility to chronic periodontitis (CP) and aggressive periodontitis (AP), and their possible role in the quantity of subgingival bacteriaAggregatibacter ActinomycetemcomitansandPorphyromonas gingivalis. 92 CP patients, 83 AP patients and 91 periodontal healthy controls were recruited. Serum IL-10 concentration was analyzed by enzyme-linked immunosorbent assay (ELISA). Gene polymorphisms were determined by multiplex SNaPshot technique. Bacteria were quantified by real-time polymerase chain reaction with TaqMan MGB probes. Taking into account age, gender and periodontal status, IL-10-592 AA, -819 TT and ATA/ATA genotype occurred more frequently in patients with CP than in healthy controls. In CP cases, higher quantity of subgingivalA.actinomycetemcomitansand lower serum IL-10 levels could be detected in homozygous ATA/ATA carriers. These findings indicate that variants in IL-10 promoter gene were not only associated with predisposition to chronic periodontitis but also affected the subgingival number ofA. Actinomycetemcomitansin a Chinese Han population.
Thermal Studies of Nanoporous Si Films with Pitches on the Order of 100 nm —Comparison between Different Pore-Drilling Techniques
Authors: Hao Qing , Xu Dongchao , Zhao Hongbo , Xiao Yue , Medina Fabian Javier 
Published: June 2018

AbstractIn recent years, nanoporous Si films have been widely studied for thermoelectric applications due to the low cost and earth abundance of Si. Despite many encouraging results, inconsistency still exists among experimental and theoretical studies of reduced lattice thermal conductivity for varied nanoporous patterns. In addition, divergence can also be found among reported data, due to the difference in sample preparation and measurement setups. In this work, systematic measurements are carried out on nanoporous Si thin films with pore pitches on the order of 100 nm, where pores are drilled either by dry etching or a focused ion beam. In addition to thermal conductivity measurements, the specific heat of the nanoporous films is simultaneously measured and agrees with the estimation using bulk values, indicating a negligible change in the phonon dispersion. Without considering coherent phonon transport, the measured thermal conductivity values agree with predictions by frequency-dependent phonon Monte Carlo simulations assuming diffusive pore-edge phonon scattering. In Monte Carlo simulations, an expanded effective pore diameter is used to account for the amorphization and oxidation on real pore edges.
Dietary Intake of Curcumin Improves eIF2 Signaling and Reduces Lipid Levels in the White Adipose Tissue of Obese Mice
Authors: Kobori Masuko , Takahashi Yumiko , Takeda Hiroaki , Takahashi Masatomo , Izumi Yoshihiro , Akimoto Yukari , Sakurai Mutsumi , Oike Hideaki , Nakagawa Toshiyuki , Itoh Masanori , Bamba Takeshi , Kimura Toshiyuki 
Published: June 2018

AbstractWhite adipose tissue (eWAT) plays a crucial role in preventing metabolic syndrome. We aimed to investigate WAT distribution and gene expression and lipidomic profiles in epididymal WAT (eWAT) in diet-induced obese mice, reflecting a Western-style diet of humans to elucidate the bioactive properties of the dietary antioxidant curcumin in preventing lifestyle-related diseases. For 16 weeks, we fed C57BL/6J mice with a control diet, a high-fat, high-sucrose and high-cholesterol Western diet or Western diet supplemented with 0.1% (w/w) curcumin. Although the dietary intake of curcumin did not affect eWAT weight or plasma lipid levels, it reduced lipid peroxidation markers’ levels in eWAT. Curcumin accumulated in eWAT and changed gene expressions related to eukaryotic translation initiation factor 2 (eIF2) signalling. Curcumin suppressed eIF2α phosphorylation, which is induced by endoplasmic reticulum (ER) stress, macrophage accumulation and nuclear factor-κB (NF-κB) p65 and leptin expression, whereas it’s anti-inflammatory effect was inadequate to decrease TNF-α and IFN-γ levels. Lipidomic and gene expression analysis revealed that curcumin decreased some diacylglycerols (DAGs) and DAG-derived glycerophospholipids levels by suppressing the glycerol-3-phosphate acyltransferase 1 and adipose triglyceride lipase expression, which are associated with lipogenesis and lipolysis, respectively. Presumably, these intertwined effects contribute to metabolic syndrome prevention by dietary modification.
Long-term outcomes of kidney transplant recipients with end-stage kidney disease attributed to presumed/advanced glomerulonephritis or unknown cause
Authors: Lim Wai H. , Wong Germaine , McDonald Stephen P. , Chakera Aron , Luxton Grant , Isbel Nicole M. , Pilmore Helen L. , Barbour Tom , Hughes Peter , Chadban Steven J. 
Published: June 2018

AbstractPeople with biopsy-proven glomerulonephritis (GN) as their cause of end-stage kidney disease (ESKD) who undergo kidney transplantation incur significant risk of recurrent GN-related graft failure, but the risk in recipients with ESKD where GN was suspected but not biopsy proven (presumed/advanced GN) and when the cause of ESKD is unknown remains uncertain. Using the Australia and New Zealand Dialysis and Transplant registry, we examined the associations between primary kidney transplant recipients whose ESKD was attributed to: 1) commonly-recurring GN (i.e. IgA nephropathy, membranoproliferative GN, focal segmental glomerulosclerosis and membranous GN), 2) presumed/advanced GN, and 3) cause of ESKD unknown (uESKD) and GN-related graft failure using adjusted competing risk models. Of 5258 recipients followed for a median of 8 years, 3539 (67.3%) had commonly-recurring GN, 1195 (22.7%) presumed/advanced GN, and 524 (10.0%) uESKD. Compared to recipients with commonly-recurring GN, recipients with presumed/advanced GN or uESKD experienced a low incidence of GN-related graft failure (<1%) and a lower hazard of GN-related graft failure (adjusted sub-distribution hazard ratio [HR] 0.28 [95%CI 0.15-0.54,p < 0.001] and 0.20 [95%CI 0.06-0.64,p = 0.007], respectively). People with ESKD attributed to either presumed/advanced GN or unknown cause face a very low risk of graft failure secondary to GN recurrence after transplantation.
Thermally Introduced Bismuth Clustering in Ga(P,Bi) Layers under Group V Stabilised Conditions Investigated by Atomic Resolution In Situ (S)TEM
Authors: Straubinger R. , Widemann M. , Belz J. , Nattermann L. , Beyer A. , Volz K. 
Published: June 2018

AbstractWe report the formation of Bi clusters in Ga(P1-x,Bix) layers during an in situ (scanning) transmission electron microscopy ((S)TEM) annealing investigation. The non-destructive temperature regime in dependence on the tertiarybutylphosphine (TBP) pressure in the in situ cell was investigated to ensure that the results are not distorted by any destructive behaviour of the crystal during the thermal treatment. The following annealing series of the Ga(P92.6Bi7.4) and Ga(P96.4Bi3.6) layers reveals that the threshold temperature at which the Bi clustering takes place is 600 °C in the Ga(P92.6Bi7.4) layer. Further thermal treatments up to 750 °C show a relationship between the Bi fraction in the Ga(P1-x,Bix) layer and the initial temperature at which the Bi clustering takes place. Finally, we investigate one Bi cluster at atomic resolution conditions. In these conditions, we found that the Bi cluster crystallized in a rhombohedral phase, aligning with its {101} planes parallel to the Ga(P,Bi) {202} planes.
Applying machine learning techniques to predict the properties of energetic materials
Authors: Elton Daniel C. , Boukouvalas Zois , Butrico Mark S. , Fuge Mark D. , Chung Peter W. 
Published: June 2018

AbstractWe present a proof of concept that machine learning techniques can be used to predict the properties of CNOHF energetic molecules from their molecular structures. We focus on a small but diverse dataset consisting of 109 molecular structures spread across ten compound classes. Up until now, candidate molecules for energetic materials have been screened using predictions from expensive quantum simulations and thermochemical codes. We present a comprehensive comparison of machine learning models and several molecular featurization methods - sum over bonds, custom descriptors, Coulomb matrices, Bag of Bonds, and fingerprints. The best featurization was sum over bonds (bond counting), and the best model was kernel ridge regression. Despite having a small data set, we obtain acceptable errors and Pearson correlations for the prediction of detonation pressure, detonation velocity, explosive energy, heat of formation, density, and other properties out of sample. By including another dataset with ≈300 additional molecules in our training we show how the error can be pushed lower, although the convergence with number of molecules is slow. Our work paves the way for future applications of machine learning in this domain, including automated lead generation and interpreting machine learning models to obtain novel chemical insights.
The containment of potential outbreaks triggered by imported Chikungunya cases in Italy: a cost utility epidemiological assessment of vector control measures
Authors: Trentini F. , Poletti P. , Baldacchino F. , Drago A. , Montarsi F. , Capelli G. , Rizzoli A. , Rosà R. , Rizzo C. , Merler S. , Melegaro A. 
Published: June 2018

AbstractThe arrival of infected travelers from endemic regions can trigger sustained autochthonous transmission of mosquito-borne pathogens in Europe. In 2007 a Chikungunya outbreak was observed in central Italy, mostly affecting two villages characterised by a high density of Aedes albopictus. The outbreak was mitigated through intervention strategies reducing the mosquito abundance. Ten years later, in 2017, sustained Chikungunya transmission was documented in both central and southern Italy. The proposed analysis identifies suitable reactive measures for the containment and mitigation of future epidemics by combining epidemiological modeling with a health economic approach, considering different arrival times of imported infections and possible delays in the notification of cases. Obtained estimates suggest that, if the first notification will occur in the middle of the mosquito breeding season, the combination of larvicides, adulticides and breeding sites removal represents the optimal strategy. In particular, we found that interventions implemented in 2007 were cost-effective, with about 3200 prevented cases, 1450 DALYs averted and €13.5 M saved. Moreover, larvicides are proven to be more cost beneficial in early summer and warmer seasons, while adulticides should be preferred in autumn and colder seasons. Our results provide useful indications supporting urgent decision-making of public health authorities in response to emerging mosquito-borne epidemics.
Predicting resistance of clinical Abl mutations to targeted kinase inhibitors using alchemical free-energy calculations
Authors: Hauser Kevin , Negron Christopher , Albanese Steven K. , Ray Soumya , Steinbrecher Thomas , Abel Robert , Chodera John D. , Wang Lingle 
Published: June 2018

AbstractThe therapeutic effect of targeted kinase inhibitors can be significantly reduced by intrinsic or acquired resistance mutations that modulate the affinity of the drug for the kinase. In cancer, the majority of missense mutations are rare, making it difficult to predict their impact on inhibitor affinity. We examine the potential for alchemical free-energy calculations to predict how kinase mutations modulate inhibitor affinities to Abl, a major target in chronic myelogenous leukemia (CML). These calculations have useful accuracy in predicting resistance for eight FDA-approved kinase inhibitors across 144 clinically identified point mutations, with a root mean square error in binding free-energy changes of $$1.1_{0.9}^{1.3}$$
1
.

1

0.9

1.3

kcal mol−1 (95% confidence interval) and correctly classifying mutations as resistant or susceptible with $$88_{82}^{93}$$
8

8

82

93

% accuracy. This benchmark establishes the potential for physical modeling to collaboratively support the assessment and anticipation of patient mutations to affect drug potency in clinical applications.
Observing the transition from quantum to classical energy correlations with photon pairs
Authors: Lerch Stefan , Stefanov André 
Published: June 2018

AbstractThe exact role of entanglement in various quantum metrology schemes is still subject to debates. This is why it would be interesting to be able to experimentally control the relative amount of quantum and classical correlations. Here, we demonstrate a method to tune energy correlations between two photons from a pair emitted by spontaneous parametric downconversion. Decoherence in the energy basis is achieved by applying random spectral phases on the photons. As a consequence, a diverging temporal second-order correlation function is observed and is explained by a mixture between an energy entangled pure state and a fully classically correlated mixed state. Such source of tunable energy entangled photon pairs could be used to demonstrate quantum advantages in future energy-time sensing schemes.
Aufstehen, wenn Stehen nicht möglich ist
Authors: Muesse André 
Published: June 2018

ZusammenfassungZu den gefragtesten Themen in Kinästhetik-Kursen zählen erfahrungsgemäß die Transfers aus dem Bett heraus in einen Rollstuhl oder Therapiestuhl. Diese
Bewegungsaktivität gehört zu den hochkomplexen Transfergeschehen und bedarf daher eines fundierten Bewegungsverständnisses und einiger Übung. Dieser Artikel
soll Aufschluss über den Bewegungsablauf sowie wichtige Handlingaspekte geben. Dabei liegt die Aufmerksamkeit auf solchen Transfersituationen, bei denen starke
Bewegungseinschränkungen vorliegen und eine Stehfähigkeit des zu mobilisierenden Kindes nicht gegeben ist.
Artifacts in Sonography – Part 3
Authors: Bönhof Jörg , McLaughlin Glen 
Published: June 2018

AbstractAs a continuation of parts 1 1 and 2 2, this article discusses artifacts as caused by insufficient temporal resolution, artifacts in color and spectral Doppler sonography, and information regarding artifacts in sonography with contrast agents. There are artifacts that occur in B-mode sonography as well as in Doppler imaging methods and sonography with contrast agents, such as slice thickness artifacts and bow artifacts, shadows, mirroring, and artifacts due to refraction that appear, for example, as double images, because they are based on the same formation mechanisms. In addition, there are artifacts specific to Doppler sonography, such as the twinkling artifact, and method-based motion artifacts, such as aliasing, the ureteric jet, and due to tissue vibration. The artifacts specific to contrast mode include echoes from usually highly reflective structures that are not contrast bubbles (“leakage”). Contrast agent can also change the transmitting signal so that even structures not containing contrast agent are echogenic (“pseudoenhancement”). While artifacts can cause problems regarding differential diagnosis, they can also be useful for determining the diagnosis. Therefore, effective use of sonography requires both profound knowledge and skilled interpretation of artifacts.
Déficit en 3ènie facteur prothromboplastique plasmaticene. Rapports entre le PTA et le facteur Hageman
Authors: Soulier J. P , Larrieu M. J , Wartelle O , Weilland C 
Published: June 2018

Résumé et ConclusionsNous avons examiné 4 malades. Les trois premiers présentent un trouble de coagulation identique à celui décrit par Ratnoff comme “Hageman trait”. Le quatrième cas paraît s’en distinguer légèrement, et ressemble à ce qui a été décrit comme déficit en PTA. L’association d’une tendance hémorragique manifeste et de signes biologiques frustes et variables serait particulière au PTA (comme dans notre observation 4) tandis que le “Hageman trait” serait caractérisé par l’absence de manifestations hémorragiques malgré des troubles biologiques importants, comme dans nos observations 1, 2 et3.Les épreuves croisées utilisant soit le plasma, soit le sang natif permettent de différencier déficit en PTA et Hageman trait. Par contre, les épreuves croisées utilisant le test de thromboplastino-formation de B i g g s , le dosage spécifique du 3ème facteur, l’étude des propriétés physico-chimiques des facteurs déficients, l’étude de la correction in vivo soulignent les caractères communs unissant le facteur Hageman et le PTA.De nouvelles recherches sont donc nécessaires afin de préciser la nature exacte des deux facteurs que nous avons réunis ici sous le nom de 3ème facteur prothromboplastique.
The Stuart-Prower Factor Assay and its Clinical Significance
Authors: Bachmann F , Duckert F , Koller F 
Published: June 2018

SummaryA simple one-stage test for the determination of the Stuart-Prower factor is described. The method is a modification of the classical Factor VII complex assay, using a Russell’s viper venom (Stypven)-cephalin reagent instead of brain thromboplastin. The optimal conditions for the assay system have been systematically investigated. A high dilution of RVV (1 : 200 000) has given the best results. The system is not influenced by different concentrations of fibrinogen, prothrombin, Factor V, Factor VII and plasma thromboplastin precursors other than Stuart-Prower factor. Variations of lipoid and/or platelet contents of the plasma do not alter the results. Stuart-Prower factor is not activated by glass contact. The method has proved most valuable in the detection of heterozygous Stuart-Prower factor deficiencies. Comparison with a specific Stuart-Prower factor assay using patient’s plasma deficient in Stuart-Prower factor gave variations not greater than 15%. If determined simultaneously with the Quick one-stage ‘prothrombin time’, the test may provide a better control of patients under treatment with dicoumarol derivatives.