bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effect of Gene Mutation on Seizures in Surgery for Tuberous Sclerosis Complex
Authors: Chivukula Srinivas , Modiri Omeed , Kashanian Alon , Babayan Diana , Ibrahim George M. , Weil Alexander G. , Tu Albert , Wu Joyce Y. , Mathern Gary W. , Fallah Aria 
Published: August 2020

ABSTRACT:Background:Tuberous sclerosis complex (TSC) is a rare genetic disorder that commonly leads to drug-resistant epilepsy in affected patients. This study aimed to determine whether the underlying genetic mutation (TSC1 vs. TSC2) predicts seizure outcomes following surgical treatments for epilepsy.Methods:We retrospectively assessed TSC patients using the TSC Natural History Database core registry. Data review focused on outcomes in patients treated with surgical resection or vagus nerve stimulation.Results:A total of 42 patients with a TSC1 mutation, and 145 patients with a TSC2 mutation, were identified. We observed a distinct clinical phenotype: children with TSC2 mutations tended to be diagnosed with TSC at a younger age than those with a TSC1 mutation (p < 0.001), were more likely to have infantile spasms (p < 0.001), and to get to surgery at a later age (p = 0.003). Among this TSC2 cohort, seizure control following resective epilepsy surgery was achieved in less than half (47%) the study sample. In contrast, patients with TSC1 mutations tended to have more favorable postsurgical outcomes; seizure control was achieved in 66% of this group.Conclusion:TSC2 mutations result in a more severe epilepsy phenotype that is also less responsive to resective surgery. It is important to consider this distinct clinical disposition when counseling families preoperatively with respect to seizure freedom. Larger samples are required to better characterize the independent effects of genetic mutation, infantile spasms, and duration of epilepsy as they relate to seizure control following resective or neuromodulatory epilepsy surgery.
Jon Gotzon's syncretic bilingual parody: Pushing the boundaries of ‘authentic’ Basque
Authors: Elordui Agurtzane 
Published: August 2020

AbstractIn normative, academic, and informative works on Basque there are constant debates on the boundaries of what is meant by ‘authentic Basque’ and, alongside that, by ‘authentic Basque speaker’. In the current Basque media, these tensions are often addressed by means of creative practices, as in other minority contexts, by means of satire and other forms of humour, especially parody. In this work my subject is the character Jon Gotzon, who engages in parody on the radio programme Gaztea. Jon Gotzon is a hyperbolic and parodic stylisation of a new Basque speaker. He challenges ‘authentic’ and ‘native’ Basque-speaking styles in his syncretic bilingual stylisation and parodic discourse. In this research, I study the way this parody takes advantages of carnivalesque strategies in order to question fixed ideological hierarchies on Basqueness, and I explore the ideological positions Jon Gotzon's parody reveals, especially with respect to hybrid identities in the Basque community. (Parody, stylisation, authenticity, minority media, Basque, humour)*
‘Agitate, educate, organise’: partisanship, popular music and the Northern Ireland conflict
Authors: Campbell Sean 
Published: August 2020

AbstractThis article explores popular-musical invocations of the Northern Ireland conflict (1968–1998), focussing specifically on the period between the IRA hunger strike of 1981 and the British Government's Broadcasting Act in 1988. Whilst most songs addressed to the ‘Troubles’ were marked by (lyrical) abstraction and (political) non-alignment, this period witnessed a series of efforts that issued upfront and partisan views. The article explores two such instances – by That Petrol Emotion and Easterhouse – addressing each band's respective views as well as the specific performance strategies that they deployed in staging their interventions. Drawing on original interviews that the author has conducted with the musicians – alongside extensive archival research of print and audio/visual media – the article explores the bands’ songs in conjunction with salient ancillary media (such as record sleeves, videos and interviews), yielding a more nuanced account of popular music's engagement with the ‘Troubles’ than has been offered in existing work (which often assumes the form of broad surveys).
Periconceptional use of cod liver oil, a vitamin D source, could decrease the risk of CHD in offspring
Authors: Zhao Anda , Zhao Kena , Xia Yuanqing , Yin Yong , Zhu Jianzhen , Hong Haifa , Li Shenghui 
Published: August 2020

AbstractObjective:To explore if there is association between vitamin D supplementation through cod liver oil ingestion around the periconceptional period and the risk of developing severe CHD in offspring. Furthermore, we would examine the interaction between vitamin D and folic acid supplementation in the association.Methods:A case–control study was conducted in Shanghai Children’s Medical Center, in which, a total of 262 severe CHD cases versus 262 controls were recruited through June 2016 to December 2017. All children were younger than 2 years. To reduce potential selection bias and to minimise confounding effects, propensity score matching was applied.Results:After propensity score matching, vitamin D supplementation seemed to be associated with decreased odds ratio of severe CHD (odds ratio = 0.666; 95% confidence intervals: 0.449–0.990) in the multivariable conditional logistic analysis. Furthermore, we found an additive interaction between vitamin D and folic acid supplementation (relative excess risk due to interaction = 0.810, 95% confidence intervals: 0.386–1.235) in the association.Conclusion:The results suggested that maternal vitamin D supplementation could decrease the risk of offspring severe CHD; moreover, it could strengthen the protective effect of folic acid. The significance of this study lies in providing epidemiological evidence that vitamin D supplementation around the periconceptional period could be a potential nutritional intervention strategy to meet the challenge of increasing CHD.
Beyond striae cutis: A case report on how physical skin complaints unveiled end-of-life total experience
Authors: Julião Miguel , Calçada Paula , Macias Vasco Coelho , Mendes-Bastos Pedro 
Published: August 2020

AbstractBackgroundEnd-of-life is a unique and multidimensional experience, and physical complaints can reveal other areas of distress.MethodA case report of a woman with terminal cancer with painful and deforming skin striae cared by a multidisciplinary team.ResultsAfter initially treating her physical pain, other end-of-life psychosocial, spiritual, and existential aspects could be addressed.Significance of resultsPhysical distress can unveil other essential areas of end-of-life experience when multidisciplinary teams caring for the terminally ill patients use holistic approaches.
Diametrically Opposite Scaling of Extreme Precipitation and Streamflow to Temperature in South and Central Asia
Authors: Ghausi Sarosh Alam , Ghosh Subimal 
Published: August 2020

AbstractClausius‐Clapeyron (CC) equation suggests a 6–7% increase in extreme precipitation per degree rise in temperature. Scaling rates of extreme precipitation with temperature at different regions significantly deviate from the CC rate. We find that the daily extreme precipitation scaling is negative over sites in the warmer tropical region of South Asia, as opposed to positive scaling over the cooler subtropics. Daily precipitation scaling tends to break down and becomes negative above a temperature of 23–24°C in all the regions. However, such breakdown disappears for subdaily precipitation extremes, and they continue to increase at high temperatures over both tropics and subtropics. This leads to high positive streamflow‐temperature scaling over small catchments, in contrast to extreme precipitation scaling at a daily scale, which is partly negative. Our analysis highlights an increased threat due to flash flood in a warmer climate, which cannot be fully estimated with the analysis of daily precipitation extremes.
Modeling of Bouncing Electron Microbursts Induced by Ducted Chorus Waves
Authors: Chen Lunjin , Breneman Aaron W. , Xia Zhiyang , Zhang Xiao‐jia 
Published: August 2020

AbstractShort‐lived (<1 s) but intense electron precipitation, known as “microbursts,” may contribute significantly to electron losses in the outer radiation belt. Their origin has been suggested to correlate with resonant scattering by whistler‐mode chorus waves, but existing models cannot fully explain the properties of microbursts, in particular, the bouncing electron packets in the form of a microburst that have been recently observed. A numerical model is presented that reproduces a series of electron bounce packets in response to individual chorus elements. Results indicate that the actual precipitation only occurs in the leading electron packet whereas subsequent packets form because of the following bounce motions of remaining fluxes. An analysis based on wave propagation and resonance condition yields an approximate time‐energy regime of electron microbursts. Such a model is valuable for interpreting and modeling low Earth‐orbiting satellite observations of electron flux variation in response to the interaction with magnetospheric chorus waves.
Bystander CD4+ T cells: crossroads between innate and adaptive immunity
Authors: Lee Hong-Gyun , Cho Min-Ji , Choi Je-Min 
Published: August 2020

AbstractT cells are the central mediators of both humoral and cellular adaptive immune responses. Highly specific receptor-mediated clonal selection and expansion of T cells assure antigen-specific immunity. In addition, encounters with cognate antigens generate immunological memory, the capacity for long-term, antigen-specific immunity against previously encountered pathogens. However, T-cell receptor (TCR)-independent activation, termed “bystander activation”, has also been found. Bystander-activated T cells can respond rapidly and secrete effector cytokines even in the absence of antigen stimulation. Recent studies have rehighlighted the importance of antigen-independent bystander activation of CD4+ T cells in infection clearance and autoimmune pathogenesis, suggesting the existence of a distinct innate-like immunological function performed by conventional T cells. In this review, we discuss the inflammatory mediators that activate bystander CD4+ T cells and the potential physiological roles of these cells during infection, autoimmunity, and cancer.
Tuneable red, green, and blue single-mode lasing in heterogeneously coupled organic spherical microcavities
Authors: Du Yuxiang , Zou Chang-Ling , Zhang Chunhuan , Wang Kang , Qiao Chan , Yao Jiannian , Zhao Yong Sheng 
Published: August 2020

AbstractTuneable microlasers that span the full visible spectrum, particularly red, green, and blue (RGB) colors, are of crucial importance for various optical devices. However, RGB microlasers usually operate in multimode because the mode selection strategy cannot be applied to the entire visible spectrum simultaneously, which has severely restricted their applications in on-chip optical processing and communication. Here, an approach for the generation of tuneable multicolor single-mode lasers in heterogeneously coupled microresonators composed of distinct spherical microcavities is proposed. With each microcavity serving as both a whispering-gallery-mode (WGM) resonator and a modulator for the other microcavities, a single-mode laser has been achieved. The colors of the single-mode lasers can be freely designed by changing the optical gain in coupled cavities owing to the flexibility of the organic materials. Benefiting from the excellent compatibility, distinct color-emissive microspheres can be integrated to form a heterogeneously coupled system, where tuneable RGB single-mode lasing is realized owing to the capability for optical coupling between multiple resonators. Our findings provide a comprehensive understanding of the lasing modulation that might lead to innovation in structure designs for photonic integration.
LIMK2 promotes the metastatic progression of triple-negative breast cancer by activating SRPK1
Authors: Malvi Parmanand , Janostiak Radoslav , Chava Suresh , Manrai Padmini , Yoon Esther , Singh Kamaljeet , Harigopal Malini , Gupta Romi , Wajapeyee Narendra 
Published: August 2020

AbstractTriple-negative breast cancer (TNBC) is a highly metastatic breast cancer subtype and due to the lack of hormone receptors and HER2 expression, TNBC has limited therapeutic options with chemotherapy being the primary choice for systemic therapy. LIM Domain Kinase 2 (LIMK2) is a serine/threonine kinase that plays an important role in the regulation of actin filament dynamics. Here, we show that LIM domain kinase 2 (LIMK2) is overexpressed in TNBC, and short-hairpin RNA (shRNA)-mediated LIMK2 knockdown or its pharmacological inhibition blocks metastatic attributes of TNBC cells. To determine the mechanism by which LIMK2 promotes TNBC metastatic progression, we performed stable isotope labeling by amino acids in cell culture (SILAC) based unbiased large-scale phosphoproteomics analysis. This analysis identified 258 proteins whose phosphorylation was significantly reduced due to LIMK2 inhibition. Among these proteins, we identified SRSF protein kinase 1 (SRPK1), which encodes for a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. We show that LIMK2 inhibition blocked SRPK1 phosphorylation and consequentially its activity. Furthermore, similar to LIMK2, genetic inhibition of SRPK1 by shRNAs or its pharmacological inhibition blocked the metastatic attributes of TNBC cells. Moreover, the pharmacological inhibition of LIMK2 blocked metastatic progression in mice without affecting primary tumor growth. In sum, these results identified LIMK2 as a facilitator of distal TNBC metastasis and a potential target for preventing TNBC metastatic progression.
Characteristics of exceptional responders to autologous stem cell transplantation in multiple myeloma
Authors: Paquin Ashley , Visram Alissa , Kumar Shaji K. , Gertz Morie A. , Cantwell Hafsa , Buadi Francis K. , Lacy Martha Q. , Dispenzieri Angela , Dingli David , Hwa Lisa , Fonder Amie , Hobbs Miriam , Hayman Suzanne R. , Lust John A. , Russell Stephen J. , Leung Nelson , Kapoor Prashant , Go Ronald S. , Lin Yi , Gonsalves Wilson I. , Kourelis Taxiarchis , Warsame Rahma , Kyle Robert A. , Rajkumar S. Vincent 
Published: August 2020

AbstractAutologous stem cell transplantation (ASCT) is an important treatment modality in multiple myeloma (MM). However, relapse following ASCT is considered almost inevitable. This study aimed to characterize exceptional responders to ASCT, defined as progression-free survival (PFS) >8 years in the absence of maintenance therapy. We retrospectively analyzed patients treated at Mayo Clinic between August 1, 1998 and January 3, 2006, and included those with symptomatic MM, treated with an ASCT within 12 months of diagnosis. We found that 46 (9%) of the 509 patients who underwent ASCT during the study period were exceptional responders. The median duration of follow-up from diagnosis was 16.2 (interquartile range 14.3–17.7) years. The best response to therapy was a complete response (CR) or better in 34 (74%) of patients, and less than a CR in 12 (26%) of patients. The median PFS was 13.8 (95% confidence interval 10.5–18.5) years, and at the time of the last hematology assessment, 24 of 46 (52%) patients remained in remission. In conclusion, we showed that a small subset of patients with MM attains durable disease control without maintenance therapy post ASCT. Pre-emptive identification of these patients may help prevent undue toxicities and costs of subsequent therapy.
Integrated microbiota and metabolite profiles link Crohn’s disease to sulfur metabolism
Authors: Metwaly Amira , Dunkel Andreas , Waldschmitt Nadine , Raj Abilash Chakravarthy Durai , Lagkouvardos Ilias , Corraliza Ana Maria , Mayorgas Aida , Martinez-Medina Margarita , Reiter Sinah , Schloter Michael , Hofmann Thomas , Allez Matthieu , Panes Julian , Salas Azucena , Haller Dirk 
Published: August 2020

AbstractGut microbial and metabolite alterations have been linked to the pathogenesis of inflammatory bowel diseases. Here we perform a multi-omics microbiome and metabolite analysis of a longitudinal cohort of Crohn’s disease patients undergoing autologous hematopoietic stem cell transplantation, and investigational therapy that induces drug free remission in a subset of patients. Via comparison of patients who responded and maintained remission, responded but experienced disease relapse and patients who did not respond to therapy, we identify shared functional signatures that correlate with disease activity despite the variability of gut microbiota profiles at taxonomic level. These signatures reflect the disease state when transferred to gnotobiotic mice. Taken together, the integration of microbiome and metabolite profiles from human cohort and mice improves the predictive modelling of disease outcome, and allows the identification of a network of bacteria-metabolite interactions involving sulfur metabolism as a key mechanism linked to disease activity in Crohn’s disease.
Pediatric pan-central nervous system tumor analysis of immune-cell infiltration identifies correlates of antitumor immunity
Authors: Grabovska Yura , Mackay Alan , O’Hare Patricia , Crosier Stephen , Finetti Martina , Schwalbe Edward C. , Pickles Jessica C. , Fairchild Amy R. , Avery Aimee , Cockle Julia , Hill Rebecca , Lindsey Janet , Hicks Debbie , Kristiansen Mark , Chalker Jane , Anderson John , Hargrave Darren , Jacques Thomas S. , Straathof Karin , Bailey Simon , Jones Chris , Clifford Steven C. , Williamson Daniel 
Published: August 2020

AbstractImmune-therapy is an attractive alternative therapeutic approach for targeting central nervous system (CNS) tumors and the constituency of the Tumor Immune Microenvironment (TIME) likely to predict patient response. Here, we describe the TIME of >6000 primarily pediatric CNS tumors using a deconvolution approach (methylCIBERSORT). We produce and validate a custom reference signature defining 11 non-cancer cell types to estimate relative proportions of infiltration in a panCNS tumor cohort spanning 80 subtypes. We group patients into three broad immune clusters associated with CNS tumor types/subtypes. In cohorts of medulloblastomas (n = 2325), malignant rhabdoid tumors (n = 229) and pediatric high-grade gliomas (n = 401), we show significant associations with molecular subgroups/subtypes, mutations, and prognosis. We further identify tumor-specific immune clusters with phenotypic characteristics relevant to immunotherapy response (i.e. Cytolytic score, PDL1 expression). Our analysis provides an indication of the potential future therapeutic and prognostic possibilities of immuno-methylomic profiling in pediatric CNS tumor patients that may ultimately inform approach to immune-therapy.
Evidence for spin-dependent energy transport in a superconductor
Authors: Kuzmanović M. , Wu B. Y. , Weideneder M. , Quay C. H. L. , Aprili M. 
Published: August 2020

AbstractIn ferromagnetic materials, spin up and down electrons can carry different heat currents. This spin-dependent energy excitation mode (‘spin energy mode’) occurs only when spin up and down energy distribution functions are different. In superconductors, heat is carried by quasiparticle excitations and the spin energy mode can be excited by spin-polarised current injection. In the presence of a finite Zeeman magnetic field, the spin energy mode surprisingly leads to a charge imbalance (different numbers of hole- and electron-like quasiparticles) at the superconducting gap edge. By performing spin-resolved spectroscopy of the out-of-equilibrium quasiparticle populations in a mescoscopic superconductor, we reveal that their distribution functions are non-Fermi–Dirac. In addition, our spectroscopic technique allows us to observe a charge imbalance, localised in energy to the gap edge and thus unambiguously identify the spin energy mode. Our results agree well with theory and shed light on energy transport in superconducting spintronics.
Connecting shear localization with the long-range correlated polarized stress fields in granular materials
Authors: Wang Yinqiao , Wang Yujie , Zhang Jie 
Published: August 2020

AbstractOne long-lasting puzzle in amorphous solids is shear localization, where local plastic deformation involves cooperative particle rearrangements in small regions of a few inter-particle distances, self-organizing into shear bands and eventually leading to the material failure. Understanding the connection between the structure and dynamics of amorphous solids is essential in physics, material sciences, geotechnical and civil engineering, and geophysics. Here we show a deep connection between shear localization and the intrinsic structures of internal stresses in an isotropically jammed granular material subject to shear. Specifically, we find strong (anti)correlations between the micro shear bands and two polarized stress fields along two directions of maximal shear. By exploring the tensorial characteristics and the rotational symmetry of force network, we reveal that such profound connection is a result of symmetry breaking by shear. Finally, we provide the solid experimental evidence of long-range correlated inherent shear stress in an isotropically jammed granular system.
Project IPAD, a database to catalogue the analysis of Fukushima Daiichi accident fragmental release material
Authors: Martin Peter , Alhaddad Omran , Verbelen Yannick , Satou Yukihiko , Igarashi Yasuhito , Scott Thomas B. 
Published: August 2020

AbstractThe 2011 accident at Japan’s Fukushima Daiichi Nuclear Power Plant released a considerable inventory of radioactive material into the local and global environments. While the vast majority of this contamination was in the form of gaseous and aerosol species, of which a large component was distributed out over the neighbouring Pacific Ocean (where it was subsequently deposited), a substantial portion of the radioactive release was in particulate form and was deposited across Fukushima Prefecture. To provide an underpinning understanding of the dynamics of this catastrophic accident, alongside assisting in the off-site remediation and eventual reactor decommissioning activities, the ‘International Particle Analysis Database’, or ‘IPAD’, was established to serve as an interactive repository for the continually expanding analysis dataset of the sub-mm ejecta particulate. In addition to a fully interrogatable database of analysis results for registered users (exploiting multiple search methods), the database also comprises an open-access front-end for members of the public to engage with the multi-national analysis activities by exploring a streamlined version of the data.