bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical features of inherited neuropathy with BSCL2 mutations in Japan
Authors: Ishihara Satoshi , Okamoto Yuji , Tanabe Hajime , Yoshimura Akiko , Higuchi Yujiro , Yuan Jun‐Hui , Hashiguchi Akihiro , Ishiura Hiroyuki , Mitsui Jun , Suwazono Shugo , Oya Yasushi , Sasaki Masayuki , Nakagawa Masanori , Tsuji Shoji , Ohya Yusuke , Takashima Hiroshi 
Published: February 2020

AbstractHeterozygous mutations in the Berardinelli‐Seip congenital lipodystrophy 2 (BSCL2) gene have been reported with different clinical phenotypes including Silver syndrome (SS)/spastic paraplegia 17 (SPG17), distal hereditary motor neuropathy type V (dHMN‐V), and Charcot‐Marie‐Tooth (CMT) disease type 2. We screened 407 Japanese patients who were clinically suspected of having CMT by exome sequencing and searched mutations in BSCL2. As a result, we identified five patients with heterozygous mutations in BSCL2. We confirmed three cases of known mutations (p.N88S and p.S90L) and two cases of novel mutations (p.N88T and p.S141A). The clinical features of the cases with known mutations in Japan were similar to those previously reported in other countries. In particular, there were many cases with sensory disturbance. The case with p.N88T mutation showed severe phenotype such as early onset age and prominent vocal cord paresis. The case with p.S141A mutation showed characteristics of demyelinating neuropathy such as CMT disease type 1 by electrophysiological examination. In this article, we report the clinical features and spread of cases with BSCL2 mutation in a Japanese cohort.
Dermal fillers do not induce upregulation of NLRP3 inflammasomes or expression of inflammatory cytokines in granulomas
Authors: Reinholz Markus , Clanner‐Engelshofen Benjamin M. , Heppt Markus V. , Marsela Enklajd , Kawakami Yoshio , Wiest Luitgard G. , French Lars E. , Stolz Wilhelm , Gauglitz Gerd G. 
Published: February 2020

AbstractBackgroundFilling materials have increasingly been used in aesthetics over the last decades. Understanding the pathophysiology of granuloma formation as a very relevant unwanted side effect of filler application may be essential to help avoid these adverse events.AimsOur aim was to investigate the role of the inflammasome in the formation of filler granuloma, as a central column of the innate immune response.MethodsRPMI 1640 medium was used for growth of THP‐1 cells and the induction of THP‐1 macrophages. Sonication was applied in order to crush the acrylic particles of the filler. ELISA was the method of analysis for the specific cytokines. Biopsy specimens of filler granuloma were analyzed by various immunohistochemical methods. GraphPad Prism 5 software was used for the statistical data analysis.ResultsNeither was the sensor NALP3 overexpressed, nor could an elevated expression of cleaved IL‐1β, IL‐18, or IFN‐γ be detected. Furthermore, no increased expression of IL‐8 or IL‐1β was detectable in vitro.ConclusionNo increased inflammasome activation could be observed; however, filler granulomas were infiltrated with granulocytes and macrophages. Therefore, we speculate that an unspecific immune response might be the key player in the formation of filler granuloma.
A roadmap to build a phenotypic metric of ageing: insights from the Baltimore Longitudinal Study of Aging
Authors: Kuo P.‐L. , Schrack J. A. , Shardell M. D. , Levine M. , Moore A. Z. , An Y. , Elango P. , Karikkineth A. , Tanaka T. , de Cabo R. , Zukley L. M. , AlGhatrif M. , Chia C. W. , Simonsick E. M. , Egan J. M. , Resnick S. M. , Ferrucci L. 
Published: February 2020

AbstractOver the past three decades, considerable effort has been dedicated to quantifying the pace of ageing yet identifying the most essential metrics of ageing remains challenging due to lack of comprehensive measurements and heterogeneity of the ageing processes. Most of the previously proposed metrics of ageing have been emerged from cross‐sectional associations with chronological age and predictive accuracy of mortality, thus lacking a conceptual model of functional or phenotypic domains. Further, such models may be biased by selective attrition and are unable to address underlying biological constructs contributing to functional markers of age‐related decline. Using longitudinal data from the Baltimore Longitudinal Study of Aging (BLSA), we propose a conceptual framework to identify metrics of ageing that may capture the hierarchical and temporal relationships between functional ageing, phenotypic ageing and biological ageing based on four hypothesized domains: body composition, energy regulation, homeostatic mechanisms and neurodegeneration/neuroplasticity. We explored the longitudinal trajectories of key variables within these phenotypes using linear mixed‐effects models and more than 10 years of data. Understanding the longitudinal trajectories across these domains in the BLSA provides a reference for researchers, informs future refinement of the phenotypic ageing framework and establishes a solid foundation for future models of biological ageing.
Puberty and Transdiagnostic Risks for Mental Health
Authors: Mendle Jane , Beam Christopher R. , McKone Kirsten M. P. , Koch Mary Kate 
Published: February 2020

Puberty in girls represents a notable period of vulnerability for different psychological disorders. The research literature has primarily considered external and contextual factors that might explain these rises in symptomatology. In the present study, we investigate relations of pubertal status and timing with individual cognitive, emotional, and behavioral tendencies, commonly identified as transdiagnostic processes, in a sample of N = 228 girls (Mage = 11.75 years). We also test whether these transdiagnostic processes mediate associations of pubertal status and pubertal timing with depressive symptoms. Results support greater endorsement of rumination, co‐rumination, negative urgency, and both anxious and angry rejection sensitivity in girls with more advanced pubertal status, as well as in girls with early pubertal timing. Higher levels of transdiagnostic processes fully mediated associations of pubertal status and timing with depressive symptoms at significant and marginally significant levels, respectively. Although the data are cross‐sectional, these findings offer promising preliminary evidence that transdiagnostic processes represent an important mental health risk in early adolescent girls.
James Baldwin, Christian Ethics, and the Recovery of Tradition
Authors: Larsen Sean 
Published: February 2020

AbstractThis essay uses James Baldwin’s thought about racism and homophobia as a critical lens for thinking about some influential strands of Christian ethics. The first part shows how Baldwin understood racism and homophobia and related them to one another by framing them as instances of spirit/flesh dualism and as effects of Christian supremacy. The second part relies on Baldwin’s categories to analyze and juxtapose the thought of select neo‐Anabaptist and neo‐Augustinian social ethicists. Like Baldwin, the ethicists I engage respond to the distorting power of Christian supremacy and of spirit/flesh dualism. Unlike Baldwin, these ethicists frame their response to Christian supremacy and dualism as a recovery of a more authentic or faithful Christian tradition. Baldwin, who often relied rhetorically and morally on Christian claims and frequently called on Christians to reflect the example of Jesus and the precepts of love, related to the tradition from the perspective of someone who had become an outsider to the church. He tended to focus instead on what the problems he described reflected about Christianity. The contrast with Baldwin helps identify two distinct retrieval strategies, which characterize the neo‐Anabaptist and neo‐Augustinian ethicists I discuss. One strategy seeks to preserve the integrity of Christian faith, and the other seeks to protect its essential decency. In what follows, I highlight some of the weaknesses of these approaches to tradition retrieval.
Reconciling economic concepts and person‐centred care of the older person with cognitive impairment in the acute care setting
Authors: Rushton Carole , Edvardsson David 
Published: February 2020

AbstractPerson‐centred care is a relatively new orthodoxy being implemented by modern hospitals across developed nations. Research demonstrating the merits of this style of care for improving patient outcomes, staff morale and organizational efficiency is only just beginning to emerge. In contrast, a significant body of literature exists showing that attainment of person‐centred care in the acute care sector particularly, remains largely aspirational, especially for older people with cognitive impairment. In previous articles, we argued that nurses work constantly to reconcile prevailing constructions of time, space, relationships, the body and ethics, to meet expectations that the care they provide is person‐centred. In this article, we explore key concepts of neo‐liberal thought which forms an important back‐story to the articles. Economic concepts, “efficiency” and “freedom” are examined to illustrate how nurses work to reconcile both the repressive and productive effects of economic power. We conclude the article by proposing a new research agenda aimed at building a more nuanced understanding of the messy actualities of nursing practice under the influences of neo‐liberalism, that illuminates the compromises and adaptations nurses have had to make in response to economic power.
Retrospective, single‐center case series of neonatal lupus
Authors: Wang Yixin Ally , Sibbald Cathryn , Moon Amanda T. 
Published: February 2020

AbstractBackgroundNeonatal lupus erythematosus (NLE) results from cross‐placental transfer of maternal autoantibodies. Neonates can present with cardiac, cutaneous, hepatobiliary, hematologic, and neurologic complications from antibody‐mediated organ toxicity. Scant evidence exists on long‐term clinical characteristics and outcomes of patients with neonatal lupus.ObjectivesTo characterize the autoantibody profile, laboratory, and clinical features of patients with NLE.Materials/MethodsThis was a single‐site retrospective cohort study of patients at the Children's Hospital of Philadelphia with NLE. Data were collected on clinical, laboratory, and autoantibody profile at time of presentation, as well as long‐term complications.ResultsThirteen patients were included. Congenital cardiac findings were reported in 3 patients, with 1 having persistent cardiac sequelae. Cardiac manifestations were correlated with anti‐Ro/SSA positivity in our cohort. Two patients had neurologic findings, with good long‐term outcomes. Cutaneous findings were present in all patients, and many resolved without topical steroid treatment. Hematologic and hepatobiliary findings were common, but uncomplicated, with complete resolution by 6 months after initial presentation in all. Maternal rheumatologic disease, treatment, and race were not associated with systemic manifestations.ConclusionsPatients born to mothers with positive anti‐Ro/SSA titers may benefit from routine cardiac monitoring in utero and at birth. Routine EEG or head ultrasound monitoring in patients who are autoantibody positive for NLE may be unnecessary. Information regarding long‐term outcomes in NLE can be used to guide familial counseling and the use of serial laboratory testing.
Diagnosis of pili trianguli et canaliculi by frozen section: A rapid and inexpensive method of diagnosis
Authors: Krenitsky Amanda , Dean Audrey , DiCarlo Christina , Bellus Gary , Hossler Eric 
Published: February 2020

AbstractWe present frozen section as a novel method in the diagnosis of pili trianguli et canaliculi that may serve as a more time‐ and resource‐ efficient alternative to current gold‐ standard electron microscopy. In this case series, three children between ages one and four presented with blonde hair unable to be combed into place. Frozen section was performed and evaluated under light microscopy with easy visualization of the hair shaft abnormality, consistent with the diagnosis of pili trianguli et canaliculi.
Phomopsis husk rot of macadamia in Australia and South Africa caused by novel Diaporthe species
Authors: Wrona Christopher J. , Mohankumar Vheena , Schoeman Maritha H. , Tan Yu P. , Shivas Roger G. , Jeff‐Ego Olumide S. , Akinsanmi Olufemi A. 
Published: February 2020

AbstractPhomopsis husk rot (PHR) in macadamia is a disease of economic importance in major commercial production areas in Australia and South Africa. Effective control of PHR is hindered by limited knowledge about its aetiology and epidemiology. The diversity and pathogenicity of more than 50 isolates of Diaporthe associated with PHR in macadamia orchards in Australia and South Africa was assessed. Multilocus phylogenetic analyses of DNA sequences of the ITS, tef1α, and tub2 gene loci revealed four novel clades that are described as Diaporthe australiana sp. nov., D. drenthii sp. nov., D. macadamiae sp. nov., and D. searlei sp. nov. Pathogenicity tests with representative isolates found that all four species caused PHR of varying severity between and within species, as well as between the two macadamia cultivars HAES 344 and HAES 816. The Australian species, D. australiana, was the most aggressive species compared with the three South African species. This study improves our understanding of the aetiology of PHR in macadamia and paves the way for more effective disease management.
It's costly punishment, not altruistic: Low midfrontal theta and state anger predict punishment
Authors: Rodrigues Johannes , Liesner Marvin , Reutter Mario , Mussel Patrick , Hewig Johannes 
Published: February 2020

AbstractPunishment in economic games has been interpreted as “altruistic.” However, it was shown that punishment is related to trait anger instead of trait altruism in a third‐party dictator game if compensation is also available. Here, we investigated the influence of state anger on punishment and compensation in the third‐party dictator game. Therefore, we used movie sequences for emotional priming, including the target states anger, happy, and neutral. We measured the Feedback‐Related Negativity (FRN) and midfrontal theta band activation, to investigate an electro‐cortical correlate of the processing of fair and unfair offers. Also, we assessed single‐trial FRN and midfrontal theta band activation as a predictor for punishment and compensation. We found that punishment was linked to state anger. Midfrontal theta band activation, which has previously been linked to altruistic acts and cognitive control, predicted less punishment. Additionally, trait anger led to enhanced FRN for unfair offers. This led to the interpretation that the FRN depicts the evaluation of fairness, while midfrontal theta band activation captures an aspect of cognitive control and altruistic motivation. We conclude that we need to redefine “altruistic punishment” into “costly punishment,” as no direct link of altruism and punishment is given. Additionally, midfrontal theta band activation complements the FRN and offers additional insights into complex responses and decision processes, especially as a single trial predictor.
Inherited basement canyons: Impact on sediment distribution in the North Atlantic
Authors: Dam Gregers , Sønderholm Martin , Sørensen Erik Vest 
Published: February 2020

AbstractStudies of basement‐bounded canyons in West Greenland show that these were long‐lasting features that extended inland for several hundreds of kilometres, acting as prominent sediment conduits sourcing the Albian–Palaeocene Nuussuaq Basin during several phases of basin evolution. The Ilulissat Icefjord canyon was the major conduit for sediment into the basin and provenance data indicate that it had a huge catchment area that extended to East Greenland. The Uparuaqqusuitsut canyon was also an important conduit for sediment in the northern part of the basin. It is suggested that the initial canyon formation occurred during uplift events in the Late Triassic and Late Jurassic when the deeply weathered basement surface formed during Early–Middle Triassic time was eroded. The recognition of these canyons as long‐lasting sediment conduits have huge implications for understanding the sediment distribution, source‐to‐sink studies and the palaeogeography of the North Atlantic basins.
Platelet depletion limits the severity but does not prevent the occurrence of experimental transfusion‐related acute lung injury
Authors: Cognasse Fabrice , Tariket Sofiane , Hamzeh‐Cognasse Hind , Arthaud Charles‐Antoine , Eyraud Marie‐Ange , Bourlet Thomas , Berthelot Philippe , Laradi Sandrine , Fauteux‐Daniel Sebastien , Garraud Olivier 
Published: February 2020

BACKGROUNDTransfusion‐related acute lung injury (TRALI) is a severe pulmonary reaction due to blood transfusions. The pathophysiology of this complication is still not widely elucidated by the scientific community, especially regarding the direct role of blood platelets within the cellular mechanism responsible for the development of TRALI.STUDY DESIGN AND METHODSIn this study, a mouse model was used to induce the development of antibody‐mediated acute lung injury through injections of lipopolysaccharide and an anti–major histocompatibility complex Class I antibody. BALB/c mice were pretreated with an anti‐GPIbα antibody, which induces platelet depletion, or ML354, a protease receptor 4 pathway inhibitor, 30 minutes before TRALI induction.RESULTSDepletion of platelets before TRALI induction appeared to reduce the severity of TRALI without completely inhibiting its development. Also, inhibition of platelet activation by ML354 did not prevent the onset of TRALI. Finally, the stimuli used for TRALI induction also triggered specific platelet activation upon ex vivo stimulation.CONCLUSIONSThis study suggests that blood platelets are not critically required for TRALI induction, although they are to some extent involved in its pathophysiology.
Visual field motion during a body pull affects compensatory standing and stepping responses
Authors: St George Rebecca J. , Di Giulio Irene , Day Brian L. 
Published: February 2020

Key points
It is unclear whether the visual input that accompanies a perturbation of a standing person can affect whether a recovery step is taken.
Visual motion speeds were manipulated during unexpected forward and backward shoulder pulls.
Visual motion that appeared slower than actual body motion reduced the initial in‐place resistance to the perturbation.
As a result of the modulation of the in‐place response, less pull force was needed to trigger a step when visual velocity appeared slower than normal.
The visuomotor postural response occurred earlier and was larger when the full‐field visual input was paired with a mechanical perturbation.
AbstractThe present study aimed to determine how visual motion evoked by an upper body perturbation during standing affects compensatory postural responses. This was investigated by rotating the visual field forwards or backwards about the ankle, time‐locked to a forwards or backwards shoulder pull. Kinematic, kinetic and electromyographic responses were recorded to a range of pull forces over 160 trials in 12 healthy adults (mean ± SD = 31 ± 5.8 years). Stepping threshold forces and in‐place postural responses were compared between conditions. When the visual field moved in the same direction as the pull, so that the apparent velocity of the body was reduced (SLOW condition), the pull‐force required to induce a step was less than when the visual field either rotated in the opposite direction (FAST) or was unaltered (NATURAL). For in‐place responses, the body was displaced further in the direction of the pull in the SLOW condition. This was the result of a reduction in the resistive force from lower leg muscles 130 ms after the visual motion onset. In trials with no pull, the visual motion induced postural responses that were later (290 ms) and had smaller amplitudes compared to when visual motion is paired with an unexpected perturbation of the body. The results suggest that the apparent speed of the visual environment during a perturbation does influence whether a compensatory step is taken, not via a direct effect on the decision to step but by modulating the initial in‐place response.
A Numerical Method for Calculation of Ship–Ship Hydrodynamics Interaction in Shallow Water Accounting for Sinkage and Trim
Authors: Ren Huilong , Xu Chen , Zhou Xueqian , Sutulo Serge , Guedes Soares Carlos 
Published: February 2020

AbstractSinkage and trim, which often occur to ships moving in shallow water, do not only have an effect on the ship–ship hydrodynamic interaction forces but also increase the risk of grounding. Potential flow-based online calculation of ship–ship hydrodynamic interaction forces without accounting for dynamic sinkage and trim is able to capture the hydrodynamic interaction effects with fair accuracy; however, there are still discrepancies in many cases, especially in the case of shallow water. An algorithm based on the potential theory has been devised for real-time simulation of the hydrodynamic interaction between two ships in shallow water accounting for sinkage and trim. The shallow water condition is modeled using the mirror image method. The sinkage and trim are solved iteratively based on the principle of hydrodynamic balance, where a mesh trimming procedure is carried out when the waterline is changed. Simulations are performed with and without accounting for the sinkage and trim, and comparison with experimental results shows a fair agreement.
Experimental Study on Heat Transfer of Leading Edge Film-Cooling With Counter-Inclined Cylindrical and Laid-Back Holes
Authors: Ye Lin , Liu Cun-liang , Liu Feng , Yang Yu-quan , Zhu Hui-ren 
Published: February 2020

AbstractThe heat transfer coefficient of counterinclined film holes fed by different intake structures on the turbine vane leading edge (LE) model is experimentally investigated in this paper. A semicylinder model is adopted to model the vane leading edge, which is arranged with one single row of film holes per side, which are located from the stagnation at a 15-deg angle. The four leading edge models, which are the combinations of the hole-shapes (cylindrical hole and laid-back hole) and intake structures (plenum and impingement), are tested at four blowing ratios M. The contours of the heat transfer coefficient, which are characterized by the Frössling number Fr, since it includes the Reynold number effect, are acquired by the transient measurement technique based on double thermochromic liquid-crystals (LCs). The lateral-averaged Fr of the nonfilm-cooled model is provided by using the same experimental platform with an identical main-flow condition. It is then compared with the published data, which indicates the reliability of the present transient measurement techniques. The results illustrate that a core region with a higher heat transfer appears in the hole-exit downstream, and its distribution is slightly skewed to the inclination direction of the film holes. The shape of the high heat transfer region gradually inclines in the spanwise direction as M increases. The heat transfer in the region where the jet core flows through is relatively low, while the jet edge region is relatively high. The effect of impingement leads to the outflow of each hole becoming increasingly uniform, which can reduce the difference in the heat transfer between the region where the jet core flows through and the jet edge. The heat transfer strength may increase due to the intense turbulence caused by the introduction of the impingement. Compared with the cylindrical hole, the laid-back hole has a spanwise expansion feature, which makes the shape of the high heat transfer region wider in the spanwise direction and increases the heat transfer level. Additionally, the magnitude of the enhancement increases with an increasing M.