bluuebunny/crossref_metadata_2025_split huggingface dataset:
Utility of genetic testing for therapeutic decision‐making in adults with epilepsy
Authors: Johannesen Katrine M. , Nikanorova Natalya , Marjanovic Dragan , Pavbro Agnieszka , Larsen Line H. G. , Rubboli Guido , Møller Rikke S. 
Published: May 2020

AbstractObjectiveGenetic testing has become a routine part of the diagnostic workup in children with early onset epilepsies. In the present study, we sought to investigate a cohort of adult patients with epilepsy, to determinate the diagnostic yield and explore the gain of personalized treatment approaches in adult patients.MethodsTwo hundred patients (age span = 18‐80 years) referred for diagnostic gene panel testing at the Danish Epilepsy Center were included. The vast majority (91%) suffered from comorbid intellectual disability. The medical records of genetically diagnosed patients were mined for data on epilepsy syndrome, cognition, treatment changes, and seizure outcome following the genetic diagnosis.ResultsWe found a genetic diagnosis in 46 of 200 (23%) patients. SCN1A, KCNT1, and STXBP1 accounted for the greatest number of positive findings (48%). More rare genetic findings included SLC2A1, ATP6A1V, HNRNPU, MEF2C, and IRF2BPL. Gene‐specific treatment changes were initiated in 11 of 46 (17%) patients (one with SLC2A1, 10 with SCN1A) following the genetic diagnosis. Ten patients improved, with seizure reduction and/or increased alertness and general well‐being.SignificanceWith this study, we show that routine diagnostic testing is highly relevant in adults with epilepsy. The diagnostic yield is similar to previously reported pediatric cohorts, and the genetic findings can be useful for therapeutic decision‐making, which may lead to better seizure control, ultimately improving quality of life.
A neural approach for detecting inline mathematical expressions from scientific documents
Authors: Madisetty Sreekanth , Maurya Kaushal Kumar , Aizawa Akiko , Desarkar Maunendra Sankar 
Published: May 2020

AbstractScientific documents generally contain multiple mathematical expressions in them. Detecting inline mathematical expressions are one of the most important and challenging tasks in scientific text mining. Recent works that detect inline mathematical expressions in scientific documents have looked at the problem from an image processing perspective. There is little work that has targeted the problem from NLP perspective. Towards this, we define a few features and applied Conditional Random Fields (CRF) to detect inline mathematical expressions in scientific documents. Apart from this feature based approach, we also propose a hybrid algorithm that combines Bidirectional Long Short Term Memory networks (Bi‐LSTM) and feature‐based approach for this task. Experimental results suggest that this proposed hybrid method outperforms several baselines in the literature and also individual methods in the hybrid approach.
Serum polyunsaturated fatty acids in infancy are associated with body composition in adolescence
Authors: Flannagan Kerry , Gahagan Sheila , Das Arun , Burrows Raquel , Lozoff Betsy , Villamor Eduardo 
Published: May 2020

SummaryBackgroundPolyunsaturated fatty acids (PUFA) have been related to the development of adiposity. N‐3 PUFA appears to be protective against obesity risk, while n‐6 PUFA may be associated with greater adiposity. However, most studies have been conducted among adults. The role of PUFA in infancy is unknown.ObjectiveTo examine associations of serum PUFA at age 1 year with age‐ and sex‐adjusted body mass index Z score (BMIZ) change through age 16 years and body composition at 16 years.MethodsWe quantified serum PUFA in 636 Chilean infants aged 1 year. We measured BMIZ at ages 1, 5, 10 and 16 years, and body composition by dual energy X‐ray absorptiometry at 16 years. We estimated differences in 1‐ to 16‐years BMIZ change between PUFA quartiles from multivariable linear mixed models with restricted cubic splines. At 16 years, we estimated differences in total fat mass (ToFM), truncal fat mass (TrFM), total lean mass (TLM), percent total fat mass (%ToFM) and percent truncal fat mass (%TrFM) between PUFA quartiles using linear regression.ResultsPUFA were not associated with BMIZ change. Alpha‐linolenic acid (ALA) was positively associated with TrFM (P = .03) and %TrFM (P < .0001) at 16 years while eicosapentaenoic acid (EPA) was inversely associated with %TrFM (P = .001). Docosapentaenoic acid (DPA) was positively associated with ToFM (P = .01), TrFM (P = .009), %ToFM (P = .02) and %TrFM (P = .02). Gamma‐linolenic acid (GLA) and the Δ6‐desaturase (D6D) activity index were each positively, linearly associated with ToFM, TrFM and %ToFM. The Δ5‐desaturase (D5D) activity index was inversely associated with %TrFM (P = .04).ConclusionsALA, DPA, GLA and the D6D index at 1 year of age were positively associated with adiposity at age 16 years, while EPA and the D5D index were inversely associated with central adiposity. Our results related to EPA and desaturase indices are in agreement with limited prior studies.
Borderline Personality Disorder: To diagnose or not to diagnose? That is the question
Authors: Campbell Katrina , Clarke Karen‐Ann , Massey Deb , Lakeman Richard 
Published: May 2020

AbstractThere is considerable controversy around psychiatric diagnosis generally and personality disorders specifically. Since its conception, borderline personality disorder has been controversial because of the stigma associated with the diagnosis and the therapeutic nihilism held by practitioners who encounter people with this high prevalence problem in acute settings. This paper reviews the history of the diagnosis of BPD and summarizes some of the controversy surrounding the categorical nature of diagnosis. Both the DSM 5 and ICD‐11 will be discussed; however, for the purposes of this paper, the DSM 5 will take the primary focus due to greater cultural significance. Recent developments in the treatment of borderline personality disorder suggest that it is a highly treatable condition and that full clinical recovery is possible. This paper formulates an argument that despite problems with psychiatric diagnosis that are unlikely to be resolved soon, a diagnosis should be made with an accompanying formulation to enable people to receive timely and effective treatment to enable personal and clinical recovery.
The power of the majority: Social conformity in sexual harassment punishment selection
Authors: Goodmon Leilani B. , Gavin David J. , Urs Medhini , Akus Sierra N. 
Published: May 2020

AbstractIn his famous social conformity experiments in the 1950's, Asch found 75% of participants conformed to confederates’ incorrect answers at least once, with an overall conformity rate of 32%, revealing that humans are highly likely to conform to group behavior even when that behavior is clearly wrong. The purpose of this study was to determine if the social conformity effect generalized to scenarios involving sexual harassment punishment selections in the workplace. Participants read various workplace sexual harassment scenarios and then witnessed four confederates chose one of three types of punishments (verbal warning, 1‐week suspension, or termination). The confederates stated aloud punishments that were either appropriate (i.e., similar to normative data) or inappropriate (i.e., deviating either too harshly or leniently to normative data). Participants then provided their punishments selection aloud, and confidentially rated their decision confidence. We found an overall conformity rate of 46%, as 82.67% conformed at least once to harsh or lenient punishment selections. Participants who conformed to incorrect punishment selections exhibited lower levels of decision confidence, indicating that conformity may have been due more to social normative influence. The current results imply the social responses of others (i.e., coworkers, supervisors, or HR) can impact responses to sexual harassment. The results imply that social influence may be a significant contributing factor in mislabeling, misreporting, or inappropriately punishing sexual harassment in some organizations.
Exosomes derived from umbilical cord mesenchymal stem cells alleviate viral myocarditis through activating AMPK/mTOR‐mediated autophagy flux pathway
Authors: Gu Xiaohong , Li Yuechun , Chen Kaixin , Wang Xingang , Wang Zhongyu , Lian Hao , Lin Yuanzheng , Rong Xing , Chu Maoping , Lin Jiafeng , Guo Xiaoling 
Published: May 2020

AbstractHuman umbilical cord mesenchymal stem cell‐derived exosomes (hucMSC‐exosomes) have been implicated as a novel therapeutic approach for tissue injury repair and regeneration, but the effects of hucMSC‐exosomes on coxsackievirus B3 (CVB3)‐induced myocarditis remain unknown. The object of the present study is to investigate whether hucMSC‐exosomes have therapeutic effects on CVB3‐induced myocarditis (VMC). HucMSC‐exosomes were identified using nanoparticle tracking analysis (NTA), transmission electron microscopy (TEM) and Western blot. The purified hucMSC‐exosomes tagged with PKH26 were tail intravenously injected into VMC model mice in vivo and used to administrate CVB3‐infected human cardiomyocytes (HCMs) in vitro, respectively. The effects of hucMSC‐exosomes on myocardial pathology injury, proinflammatory cytokines and cardiac function were evaluated through haematoxylin and eosin (H&E) staining, quantitative polymerase chain reaction (qPCR) and Doppler echocardiography. The anti‐apoptosis role and potential mechanism of hucMSC‐exosomes were explored using TUNEL staining, flow cytometry, immunohistochemistry, Ad‐mRFP‐GFP‐LC3 transduction and Western blot. In vivo results showed that hucMSC‐exosomes (50 μg iv) significantly alleviated myocardium injury, shrank the production of proinflammatory cytokines and improved cardiac function. Moreover, in vitro data showed that hucMSC‐exosomes (50 μg/mL) inhibited the apoptosis of CVB3‐infected HCM through increasing pAMPK/AMPK ratio and up‐regulating autophagy proteins LC3II/I, BECLIN‐1 and anti‐apoptosis protein BCL‐2 as well as decreasing pmTOR/mTOR ratio, promoting the degradation of autophagy flux protein P62 and down‐regulating apoptosis protein BAX. In conclusion, hucMSC‐exosomes could alleviate CVB3‐induced myocarditis via activating AMPK/mTOR‐mediated autophagy flux pathway to attenuate cardiomyocyte apoptosis, which will be benefit for MSC‐exosome therapy of myocarditis in the future.
Prognostic significance of immune landscape in tumour microenvironment of endometrial cancer
Authors: Li Bi‐Lan , Wan Xiao‐Ping 
Published: May 2020

AbstractTumour microenvironment (TME) is crucial to tumorigenesis. This study aimed to uncover the differences in immune phenotypes of TME in endometrial cancer (EC) using Uterine Corpus Endometrial Carcinoma (UCEC) cohort and explore the prognostic significance. We employed GVSA enrichment analysis to cluster The Cancer Genome Atlas (TCGA) EC samples into immune signature cluster modelling, evaluated immune cell profiling in UCEC cohort (n = 538) and defined four immune subtypes of EC. Next, we analysed the correlation between immune subtypes and clinical data including patient prognosis. Furthermore, we analysed the expression of immunomodulators and DNA methylation modification. The profiles of immune infiltration in TCGA UCEC cohort showed significant difference among four immune subtypes of EC. Among each immune subtype, natural killer T cells (NKT), dendritic cells (DCs) and CD8+T cells were significantly associated with EC patients survival. Each immune subtype exhibited specific molecular classification, immune cell characterization and immunomodulators expression. Moreover, the expression immunomodulators were significantly related to DNA methylation level. In conclusion, the identification of immune subtypes in EC tissues could reveal unique immune microenvironments in EC and predict the prognosis of EC patients.
FKF1 F‐box protein promotes flowering in part by negatively regulating DELLA protein stability under long‐day photoperiod in Arabidopsis
Authors: Yan Jindong , Li Xinmei , Zeng Bingjie , Zhong Ming , Yang Jiaxin , Yang Piao , Li Xin , He Chongsheng , Lin Jianzhong , Liu Xuanming , Zhao Xiaoying 
Published: May 2020

AbstractFLAVIN‐BINDING KELCH REPEAT F‐BOX 1 (FKF1) encodes an F‐box protein that regulates photoperiod flowering in Arabidopsis under long‐day conditions (LDs). Gibberellin (GA) is also important for regulating flowering under LDs. However, how FKF1 and the GA pathway work in concert in regulating flowering is not fully understood. Here, we showed that the mutation of FKF1 could cause accumulation of DELLA proteins, which are crucial repressors in GA signaling pathway, thereby reducing plant sensitivity to GA in flowering. Both in vitro and in vivo biochemical analyses demonstrated that FKF1 directly interacted with DELLA proteins. Furthermore, we showed that FKF1 promoted ubiquitination and degradation of DELLA proteins. Analysis of genetic data revealed that FKF1 acted partially through DELLAs to regulate flowering under LDs. In addition, DELLAs exerted a negative feedback on FKF1 expression. Collectively, these findings demonstrate that FKF1 promotes flowering partially by negatively regulating DELLA protein stability under LDs, and suggesting a potential mechanism linking the FKF1 to the GA signaling DELLA proteins.
Isolation and next generation sequencing of archival formalin‐fixed DNA
Authors: Alqahtani Ahlam , Skelton Andrew , Eley Lorraine , Annavarapu Srinivas , Henderson Deborah J. , Chaudhry Bill 
Published: May 2020

AbstractDNA from archived organs is presumed unsuitable for genomic studies because of excessive formalin‐fixation. As next generation sequencing (NGS) requires short DNA fragments, and Uracil‐N‐glycosylase (UNG) can be used to overcome deamination, there has been renewed interest in the possibility of genomic studies using these collections. We describe a novel method of DNA extraction capable of providing PCR amplicons of at least 400 bp length from such excessively formalin‐fixed human tissues. When compared with a leading commercial formalin‐fixed DNA extraction kit, our method produced greater yields of DNA and reduced sequence variations. Analysis of PCR products using bacterial sub‐cloning and Sanger sequencing from UNG‐treated DNA unexpectedly revealed increased sequence variations, compared with untreated samples. Finally, whole exome NGS was performed on a myocardial sample fixed in formalin for 2 years and compared with lymphocyte‐derived DNA (as a gold standard) from the same patient. Despite the reduction in the number and quality of reads in the formalin‐fixed DNA, we were able to show that bioinformatic processing by joint calling and variant quality score recalibration (VQSR) increased the sensitivity four‐fold to 56% and doubled specificity to 68% when compared with a standard hard‐filtering approach. Thus, high‐quality DNA can be extracted from excessively formalin‐fixed tissues and bioinformatic processing can optimise sensitivity and specificity of results. Sequencing of several sub‐cloned amplicons is an important methodological step in assessing DNA quality.
Chemical inhibition of Chlorella sp. by rotifers
Authors: Xu Ran , Zhang Litao , Liu Jianguo 
Published: May 2020

To test the hypothesis that rotifers release one or more chemical microalgal growth inhibitors in addition to devouring the microalgal cells, the effects of different concentrations of filtered, bacteria‐free, rotifer culture filtrate (RCF) on the growth and physiological parameters of Chlorella sp., and the response of Chlorella sp. at different starting cell densities to 10% RCF, were studied. The results show that RCF significantly decreased Chlorella cell densities during the incubation, suggesting that rotifers release some chemical(s) that inhibit microalgal cell growth. Chlorella cell densities decreased with increasing RCF concentration. Increasing the initial cell density of Chlorella dispersed the inhibitory chemical(s) present in 10% RCF over more cells, reducing their effect. The results confirm that the action of the chemical(s) released by rotifers on microalgal cell growth was dependent on both the RCF concentration and the exposure time. They also demonstrate that ≥10% RCF significantly inhibited photosynthesis and respiration, which would account for some of the decreased Chlorella cell growth in the presence of RCF. Calculations based on the data indicate that the rotifer‐derived chemical(s) released hourly from each rotifer inhibits growth by 45.5 microalgal cells in addition to the rotifer predation, with a 48 h LC50 value of 18.8% RCF. Based on these results, fresh medium instead of the old culture medium was contaminated by the rotifers.
Dynamism and context‐dependency in diversification of the megadiverse plant genusSolanum(Solanaceae)
Authors: Echeverría‐Londoño Susy , Särkinen Tiina , Fenton Isabel S. , Purvis Andy , Knapp Sandra 
Published: May 2020

AbstractExplosive radiations—substantial increases in net species diversification—have been considered one of the most intriguing diversification patterns across the Tree of Life, but the subsequent change, movement, and extinction of the constituent lineages make radiations hard to discern or understand as geological time passes. We used the megadiverse angiosperm genusSolanumL. (Solanaceae), with ca. 1200 currently accepted species distributed worldwide in a wide array of habitats, to explore these patterns on a global scale. We synthesized phylogenetic and distributional data for this ongoing radiation to show how dispersal events and past climatic changes have interacted to shape diversification. We find that, despite the vast diversity ofSolanumlineages in the Neotropics, lineages in the Old World are diversifying more rapidly. This recent increase in diversification coincides with a long‐distance dispersal event from the Neotropics to regions where major climatic changes were taking place. Two separate groups ofSolanumhave migrated and established in Australia, but only the arid‐adapted lineages underwent significant increases in diversification rate, as they were able to adapt to the continent's long‐term climatic trend towards seasonally dry and arid biomes (a pattern observed in the diversification of other arid‐adapted groups). Our findings provide a clear example of how successful colonization of new areas and niches can—but does not always—drive explosive diversifications.
Better to Lose Your Head Than Use It: Working with Ethnographic Fiction and a New Evidential Paradigm at Minimalist Donald Judd’s The Chinati Foundation
Authors: Bovino Emily Verla 
Published: May 2020

ABSTRACTWriting through ethnographic fiction, art practice, and art historical research, this essay presents a study of minimalist Donald Judd’s The Chinati Foundation/La Fondacion Chinati (1979–1986), a museum in West Texas designed by the artist. It explores Chinati in relation to its site—the Texas‐Mexico borderlands—focusing on three objects of evidence found in and around it: a World War II–era German‐language sign inside the former military complex that Judd retrofitted for the museum, and that he dated and autographed; a wall of a derelict adobe building graffitied with a denouncement of Chinati; and a granite gravestone with an Arabic inscription, marking the final resting place of Lebanese peddler Ramon Karam, whose death on the Rio Grande in 1918 was used as evidence in Senate hearings in support of increased U.S. militarization at the border. The essay shows how working with ethnographic fiction toward a new evidential paradigm shifts perspectives on Chinati, Judd’s practice, the borderlands, and the relationship between scholarship and art practice.
Candida spp bloodstream infections in a Latin American Pediatric Oncology Reference Center: Epidemiology and associated factors
Authors: Paixao de Sousa da Silva Adriana Maria , de Moraes‐Pinto Maria Isabel , Teofilo Pignati Luara , Barbosa Teixeira Bruno , Cordeiro Lima Ana Paula , Costa Pimentel Germano Priscila , Petrilli Antonio Sergio , Marques Leticia Maria Acioli , Carlesse Fabianne 
Published: May 2020

SummaryBackgroundInvasive fungal disease is a significant cause of morbidity and mortality in immunosuppressed children. The recognition of patients at risk for candidaemia is paramount to a better prognosis.ObjectivesTo characterize Candida spp bloodstream infections (BSI) in a reference centre for paediatric oncology and to describe the most prevalent risk factors associated with candida infections.Patients/MethodsThis is a retrospective cohort study carried out with paediatric patients followed up with at the Institute of Pediatric Oncology, Brazil, who presented positive blood culture for Candida spp from January 2004 to December 2016.ResultsNinety episodes of candidaemia were analysed; patients had a median age of 4.5 years, and 57.8% were males, with a diagnosis of solid tumours in 54.5% of cases. The most common Candida species were C albicans (35.6%), C parapsilosis (30.0%) and C tropicalis (16.7%). C tropicalis BSI was associated with neutropenia and skin lesions. Therapy was successful in 67.1% of the episodes. Older age and thrombocytopenia were associated with therapeutic failure. Death within 30 days occurred in 24.4% of patients; predictive factors were older age and admission to an ICU C parapsilosis candidaemia was a protective factor for death when compared to C albicans.ConclusionThe main species isolated were C albicans, C parapsilosis and C tropicalis. C tropicalis BSI was associated with neutropenia and skin lesions. The death rate was significant, and a worse prognosis was associated with older age, thrombocytopenia and admission to an ICU C parapsilosis infection proved to be a protective factor against mortality.
Clinical, microscopic and molecular presentation in pediatric versus adult old world cutaneous Leishmaniasis
Authors: Dunya Gabriel , Loya Asif , Taraif Suad , Adib Houreih Mohammad , Khalifeh Ibrahim 
Published: May 2020

AbstractBackgroundCutaneous leishmaniasis (CL) is an emerging uncontrolled tropical parasitic disease in endemic and nonendemic areas with a high prevalence in the pediatric age group.MethodA total of 382 individuals from Lebanon, Saudi Arabia, Pakistan, and Syria diagnosed with CL by punch biopsy/scrapings were grouped into adults (>18 years) and pediatrics (≤18 years). Data recorded included clinical features [number, location, type, size, and extensiveness (size larger than 3 cm, more than 5 lesions per patient, lesion present for more than 12 months, special types, disfiguring lesion or closeness to vital sensory organs) of lesions] and microscopic findings [Ridley's Parasitic Index and Ridley's Pattern]. In addition, molecular confirmation and speciation were performed.ResultsIn comparison with adults, patients in the pediatric group (n = 158, 41.4%) showed significantly higher number of lesions, more facial involvement, and more extensive disease (P < .05). Microscopically, a more advanced Ridley's pattern was observed. The other variables did not show statistical difference between the two groups.ConclusionHistorically, CL has been known to be a neglected tropical disease of poverty and pediatric predilection. In our pediatric group, CL manifests with more extensive disease clinically mirrored by more advanced lesions microscopically.