bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans
Authors: Nemer Georges , El‐Hachem Nehme , Eid Edward , Hamie Lamiaa , Bardawil Tara , Khalil Samar , El‐Rassy Inaam , Safi Remi , Khalil Athar , Abbas Ossama , Shimomura Yutaka , Kurban Mazen 
Published: April 2020

AbstractDiscoid lupus erythematosus (DLE) is an autoimmune disorder with a poorly defined etiology. Despite epidemiologic gender and ethnic biases, a clear genetic basis for DLE remains elusive. In this study, we used exome and RNA sequencing technologies to characterize a consanguineous Lebanese family with four affected individuals who presented with classical scalp DLE and generalized folliculitis. Our results unraveled a novel biallelic variant c.1313C > A leading to a missense substitution p.(Thr438Asn) in TRAF3IP2(NM_147200.3). Expression studies in cultured cells revealed mis‐localization of the mutated protein. Functional characterization of the mutated protein showed significant reduction in the physical interaction with the interleukin 17‐A receptor (IL17RA), while interaction with TRAF6 was unaffected. By conducting a differential genome‐wide transcriptomics analysis between affected and non‐affected individuals, we showed that the hair follicle differentiation pathway is drastically suppressed, whereas cytokine and inflammation responses are significantly upregulated. Furthermore, our results were highly concordant with molecular signatures in patients with DLE from a public dataset. In conclusion, this is the first report on a new putative role for TRAF3IP2 in the etiology of DLE. The identified molecular features associated with this gene could pave the way for better DLE‐targeted treatment.
Expiratory airflow obstruction due to tracheostomy tube: A spirometric study in 50 patients
Authors: Sanchez‐Guerrero Jose Antonio , Guerlain Joanne , Cebrià i Iranzo Maria Àngels , Baujat Bertrand , Lacau St Guily Jean , Périé Sophie 
Published: April 2020

AbstractObjectivesTracheostomy is commonly used in intensive care units and in head and neck departments. Airway obstruction due to occluded cuffless tracheostomy tubes themselves remains unknown, although capping trials are commonly used before decannulation. The aim of this study was to evaluate the extent to which airway obstruction can be caused by occluded cuffless tubes in patients who underwent head and neck surgery.DesignProspective Research Outcome.SettingsUniversity teaching hospital.ParticipantsFifty patients requiring transient tracheostomy after head and neck surgery.Main outcome measuresA flow‐volume loop (FVL) through the mouth using a portable spirometer, with the occluded fenestrated cuffless tube, was measured before and immediately after decannulation, by obstructing the orifice of tracheostomy tube. The measurement of FVL recorded the forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), peak expiratory flow (PEF), forced expiratory flow at 50% of FVC, peak inspiratory flow (PIF) and forced inspiratory flow at 50% of FVC.ResultsA statistically significant difference between all spirometric parameters was found. Mean PEF and PIF, respectively, increased from 2.8 to 4.5 L/s (P < .0001) and 2.3 to 2.7 L/s (P < .01) before and after decannulation, with a strong positive correlation (r = 0.7; P < .05). A mean expiratory (34%) and inspiratory (9%) airflow reduction was observed due to cannula.ConclusionsOccluded cuffless tracheostomy tubes cause a dramatic airflow obstruction, mainly in the expiratory phase of FVL. This should be taken into account during capping trials.
Comparison of gene disruption induced by cytosine base editing‐mediated iSTOP with CRISPR/Cas9‐mediated frameshift
Authors: Dang Lu , Li Guanglei , Wang Xinjie , Huang Shisheng , Zhang Yu , Miao Yuanxin , Zeng Lisi , Cui Shuzhong , Huang Xingxu 
Published: April 2020

AbstractObjectivesRecently developed CRISPR‐dependent cytosine base editor (CBE), converting four codons (CAA, CAG, CGA and TGG) into stop codons without DNA double‐strand breaks (DSB), serves as an efficient gene disruption strategy besides uncontrollable CRISPR‐mediated frameshift. However, the detailed difference of gene knockout between the two systems has not been clarified.Materials and methodsHere, we selected some sgRNAs with different position background, then HEK293T cells were transfected with CBE/Cas9 plasmids together with sgRNAs. GFP‐positive cells were harvested by fluorescence‐activated cell sorting (FACS) 48 hours after transfection. Genomic DNA was collected for deep sequencing to analyse editing efficiency and genotype. RNA and protein were extracted to analyse gene mRNA level using qPCR analysis and Western blot.ResultsHere, we compared the gene disruption by CBE‐mediated iSTOP with CRISPR/Cas9‐mediated frameshift. We found BE‐mediated gene knockout yielded fewer genotypes. BE‐mediated gene editing precisely achieved silencing of two neighbouring genes, while CRISPR/Cas9 may delete the large fragment between two target sites. All of three stop codons could efficiently disrupt the target genes. It is worth notifying, Cas9‐mediated gene knockout showed a more impact on neighbouring genes mRNA level than the BE editor.ConclusionsOur results reveal the differences between the two gene knockout strategies and provide useful information for choosing the appropriate gene disruption strategy.
Sulphur doped carbon dots enhance photodynamic therapy via PI3K/Akt signalling pathway
Authors: Li Yanjing , Wu Shihong , Zhang Junjiang , Zhou Ronghui , Cai Xiaoxiao 
Published: May 2020

AbstractObjectivesPhotodynamic therapy (PDT) is a promising approach for cancer treatment, and the underlying signalling pathway changes has been carried out for studying the PDT mechanisms, but is majorly limited to organic photosensitizers (PSs). For the emerging nano‐PSs typically possessing higher 1O2 quantum yield, few mechanistic studies were carried out, which limited their further applications in clinical therapeutics. PI3K/Akt signalling pathway, a most frequently activated signalling network in cancers, could promote cancer cell survival, but was seldom reported in previous PDT studies mediated by nano‐PSs.Materials and MethodsSulphur doped carbon dots (S‐CDs) was prepared via a hydrothermal synthetic route and was characterized by transmission electron microscopy, X‐ray photoelectron spectroscopy and so on. CCK‐8 assay and Annexin V/PI staining were performed to demonstrate the death of cancer cells, Western blot, RT‐PCR and immunofluorescence were employed to explore the underlying mechanism, and variation of PI3K/Akt and other signalling pathways was detected by Western blot.ResultsS‐CDs was successfully synthesized, and it was much more efficient compared with classic organic PSs. S‐CDs could induce cancer cell death through mitochondria mediated cell apoptosis with the imbalance of Bcl‐2 family proteins and caspase cascade via several signalling pathways. Low concentration of S‐CDs could effectively inhibit PI3K/Akt pathway and promote p38/JNK pathway, on one way inhibiting cancer cell survival and on the other way promoting cell apoptosis.ConclusionsHerein, we found that S‐CDs acted as an inhibitor of the PI3K/Akt pathway for efficient cancer cell killing, thus yielding in a higher PDT performance over the existing photosensitizers.
Financial Factors, Openness and the Natural Interest Rate in China
Authors: Li Hongjin , Su Naifang 
Published: May 2020

AbstractChina's financial market has undergone significant changes since financial deleveraging commenced and regulatory supervision was tightened in 2017. Intensifying China–US trade tensions have further increased the uncertainties of external environments. In this article, we use a Bayesian approach instead of the standard maximum likelihood estimation in the Laubach–Williams model to estimate the natural interest rate by considering financial factors and open conditions, and analyze the relationships among the natural interest rate, economic activities and monetary policies. We find that technological and demographic factors are the main drivers of natural interest rates, while financial factors and open conditions also play important roles. In particular, shocks in the financial markets and the external economic environment in recent years are important reasons for the decline of China's natural interest rate. Therefore, it is necessary to strengthen research on the estimation of the natural interest rate to ensure China's transformation into more price‐based monetary policy and high‐quality development.
Understanding the terrible twos: A longitudinal investigation of the impact of early executive function and parent–child interactions
Authors: Hughes Claire , Devine Rory T. , Mesman Judi , Blair Clancy 
Published: April 2020

AbstractImpairments in both executive function and parent–child interactions are associated with child externalizing behavior, but few studies have tested the uniqueness of these associations in the first years of life. Addressing these gaps, the current study involved an international sample (N = 438; 218 boys) who, at 14 and 24 months, completed an innovative battery of executive function tasks and were filmed at home in dyadic interaction with their mothers, enabling detailed observational ratings of maternal support. In addition, parents rated infant temperament at 4 months and externalizing behavior at 14 and 24 months. Cross‐lagged longitudinal analysis showed a unidirectional developmental association between executive function at 14 months and externalizing behavior at 24 months. In addition, infant negative affect moderated the inverse association between maternal support at 14 months and externalizing behavior at 24 months. The benefits of maternal support were only evident for children with low levels of negative affect in infancy. We discuss this finding in relation to theoretical models that highlight child effects (e.g. models of vantage sensitivity).
Exploring the Roles of Social Presence and Gender Difference in Online Learning
Authors: Park ChongWoo , Kim Dong‐gook 
Published: April 2020

ABSTRACTOnline learning has become more popular in higher education with its advantages of flexibility and accessibility. However, there have been challenges to students’ learning experience in online learning. One critical challenge would be providing interactions between students and instructors as good or effective as in the face‐to‐face environment. However, providing face‐to‐face interactions in online learning is not feasible because students and instructors are not physically present together. In this study, we introduce and empirically investigate social presence as student learning experience in online learning in which physical presence does not exist. Drawing upon the social presence and online learning literature, we propose a research model to explore how the interactivity of communication tools can drive social presence and student satisfaction in online learning. Furthermore, this study examines gender difference as a moderator in the model. Data were collected from undergraduate students who were taking online business statistics courses where an interactive communication tool was required to use for class communication and collaboration. The results showed that social presence driven by tool interactivity had a significant impact on student satisfaction in online learning. We also found that gender difference moderated the relationship between tool interactivity and social presence in online learning.
Soluble interleukin‐2 receptor (sIL‐2r) level is a limited test for the diagnosis of adult secondary hemophagocytic lymphohistiocytosis
Authors: Naymagon Leonard , Tremblay Douglas , Troy Kevin , Mascarenhas John 
Published: April 2020

AbstractBackgroundSoluble interleukin‐2 receptor (sIL‐2r) level is used as a diagnostic tool in hemophagocytic lymphohistiocytosis (HLH). However, evidence supporting its use among adults is inadequate.Objective and MethodsWe conducted a retrospective study to assess the performance characteristics of sIL‐2r for the diagnosis of adult HLH.ResultsOne hundred thirty‐two adults with sIL‐2r levels sent for evaluation of HLH over a ten‐year period were included. Sixty‐five (49%) met criteria for HLH. Mean sIL‐2r was significantly higher among patients with HLH relative to all patients without HLH (12942U/ml vs. 6308 U/mL, P = .00311). However, when comparing mean sIL‐2r in the HLH group to those in the non‐HLH group with primary diagnoses of hematologic malignancy (8911 U/mL), sepsis (7127 U/mL), and rheumatologic disease (4624 U/mL), no significant differences were found (P = .241, P = .178, and P = .0607, respectively). There was only weak correlation between sIL‐2r and diagnosis of HLH (r = .253). The standard cutoff sIL‐2r > 2400 U/ml yielded a sensitivity of 89.2% and specificity of 38.8%. The area under the curve for the corresponding receiver‐operator curve was 0.691, consistent with a poor discriminating ability for the diagnosis of HLH.ConclusionssIL‐2r is a limited test for the diagnosis of adult secondary HLH, and its role in this setting should be reevaluated.
Effects of burning and mowing on the soil microbiome of restored tallgrass prairie
Authors: Zhu Lifeng , Dickson Timothy L. , Zhang Zheng , Dere Ashlee , Xu Jiawu , Bragg Thomas , Tapprich William , Lu Guoqing 
Published: April 2020

AbstractUnderstanding soil microbiome responses to different land‐management strategies provides insights into tallgrass prairie restoration. However, few studies have examined these interactions. We addressed this issue by surveying samples from the University of Nebraska at Omaha's Glacier Creek Preserve, where a long‐term burn experiment was established in 1982, with the mow treatments incorporated in 2002. In 2015, we collected 89 soil samples and obtained ~2.3 million bacterial and archaeal 16S rRNA sequence reads and ~2.4 million fungal ITS reads. Analysis of the sequences showed that dominant phyla were Proteobacteria (~30.0%) and Acidobacteria (~22.8%) in bacteria and Ascomycota (~66.2%) in fungi. We found that burning and mowing had a distinct effect on soil bacterial and fungal diversity: soils exposed to the burn treatments possessed a relatively high bacterial diversity but a relatively low fungal diversity. We also observed that burning and mowing had different effects on different microbial groups within bacteria and fungi. The burn treatments led to a relatively high abundance of bacterial groups such as Gemmatimonadetes and Armatimonadetes that prefer dry or warmer soils and arbuscular mycorrhizal (AM) fungi, whereas the mow treatments resulted in increased abundances of Nitrospirae bacteria. Moreover, functional prediction revealed that soil samples from the burn treatments were enriched with AM and plant saprotrophic fungi, and fungal plant pathogens were enriched in the mow samples. Considering soil functional differences between burn and mow treatments and an increased plant production after burning treatments, we speculate that burning could be a better strategy in the tallgrass land restoration, with certain fungal groups as an imperative indicator.Highlights
Understanding soil microbiome responses to different land‐management strategies provides insights into tallgrass prairie restoration
We showed differences in the soil bacterial and fungal communities between burn and mow treatments.
Soil fungi were enriched in AM fungi and plant saprotroph functions after burning, but fungi with putative plant pathogens after mowing.
The burn treatment is a better strategy for tallgrass prairie land restoration in this study region.
An alternative arthroscopic approach to the caudal pouches of the equine lateral femorotibial joint
Authors: O’Neill Henry D. , Bladon Bruce M. 
Published: May 2020

AbstractBackgroundCurrent arthroscopic approaches to the caudal pouches of the lateral femorotibial joint are challenging and risk iatrogenic nerve and cartilage injury.ObjectiveDescribe an alternative arthroscopic approach to the caudal pouches of the lateral femorotibial joint in the horse and report intra‐articular abnormalities observed during diagnostic stifle arthroscopy of these pouches.Study designDescriptive cadaver anatomical and clinical study.MethodsAn approach to the caudal pouches of the lateral femorotibial joint was developed during clinical surgery using an arthroscopic portal in the popliteal tunnel of the femorotibial joint. Relevant anatomy of the lateral femorotibial joint was reviewed and the arthroscopic landmarks validated on 19 cadaver limbs. The procedure was then incorporated as part of routine inspection of 38 joints in 33 horses.ResultsEntry and examination of both pouches of the caudal lateral femorotibial joint was consistently achieved using an arthroscopic portal immediately cranial to the lateral collateral ligament in both cadaver and clinical limbs, with no adverse effects noted in the latter. Contrary to published descriptions, the division of the pouches was principally formed by a meniscopopliteal septum derived from the joint capsule in all cases, rather than the popliteus muscle and tendon as previously described. Abnormalities were detected in five cases. The finding of bilateral tearing within the popliteus muscle may represent a previously unrecognised arthroscopic condition.Main limitationLimited case numbers.ConclusionAn arthroscopic portal immediately cranial to the lateral collateral ligament permitted consistent entry into the popliteal tunnel and both pouches of the caudal lateral femorotibial joint.
Sumoylation of CCAAT‐enhancer‐binding protein α inhibits lung differentiation in Bronchopulmonary Dysplasia model rats
Authors: Zhu Yue , Chen Xiaoqing , Mi Lanlan , Wang Qiuxia , Zhu Haitao , Ju Huimin , Lu Hongyan 
Published: May 2020

AbstractBronchopulmonary dysplasia (BPD) is a major cause of mortality and morbidity in premature infants, characterized by alveolar simplification, surfactant deficiency, and respiratory distress. In the present study, we have investigated the functional roles of sumoylated CCAAT/enhancer binding protein alpha (C/EBPα) in the BPD rat model. A significant increase in small ubiquitin‐like modifier 1 (SUMO1) and sumoylated C/EBPα protein levels were observed in BPD rats, and the levels of the sumoylated C/EBPα were associated with the pulmonary surfactant proteins (SPs). In order to confirm the role of sumoylated C/EBPα in BPD rats, SUMO1 was knocked down by lentiviral transfection of neonatal rat lungs with SUMO1‐RNAi‐LV. We found that the expression of C/EBPα and surfactant proteins increased following SUMO1 knockdown. Furthermore, the relatively low decrease in the levels of C/EBPα sumoylation was correlated with reduced glycogen consumption. Besides, co‐immunoprecipitation assays revealed that sumoylation is involved in the regulation of the interaction between C/EBPα and TGFβ2 in the lung. In conclusion, our findings indicate that sumoylation may act as a negative regulator of the C/EBPα‐mediated transactivation in BPD rats.
Time‐lasting ceramic stains and glaze: A toothbrush simulation study
Authors: Sulaiman Taiseer A. , Camino Renata N. , Cook Ryan , Delgado Alex J. , Roulet Jean‐Francois , Clark Wendy A. 
Published: April 2020

AbstractObjectiveTo evaluate and compare color stability and gloss retention of ceramic stains and glaze under simulated toothbrushing using dentifrices with different relative dentin abrasion (RDA).Materials and MethodsFeldspathic porcelain, lithium disilicate, 3 mol% yttria partially stabilized zirconia, and 5 mol% yttria partially stabilized zirconia were evaluated. Ceramics were externally stained, glazed and mounted in the toothbrush simulator. A toothbrush with 300 g force was applied. Regular toothpaste (72 RDA) and charcoal toothpaste (RDA <200) were used. Linear brushing motion with cycle intervals: 5 k, 10 k, 30 k, and 50 k was achieved. Change in color (CIEΔE2000) and gloss measurements were collected using a reflection spectrophotometer (Ci 7600, X‐rite) at baseline and cycle intervals. Repeated measures analysis of variance within specimen factors (ceramic type, toothpaste and cycles) was performed.ResultsΔE00 was significantly different at 50 k cycles and with zirconia ceramics (P < .0001). Charcoal toothpaste was significantly different in ΔE00 compared to regular toothpaste (P > .0001). Loss of gloss was observed at 5 k and 30 k (charcoal and regular toothpaste respectively) regardless type of ceramic (P > .0001).ConclusionGlass‐phase ceramics retain stains longer than zirconia ceramics. Charcoal toothpaste affect color and gloss stability. Ceramic glaze maybe lost within the first 6 months in patients' mouth.Clinical SignificanceLong‐term color and gloss stability of externally stained and glazed ceramics maybe a clinical concern. Charcoal toothpastes enhance loss of color and gloss of ceramic restorations.
Durability and outcome of endoscopic ultrasound‐guided hepaticoduodenostomy using a fully covered metal stent for segregated right intrahepatic duct dilatation
Authors: Ma Ka Wing , So Hoonsub , Cho Dong Hui , Oh Jin Sun , Cheung Tan To , Park Do Hyun 
Published: May 2020

AbstractBackground and AimsSegregated right intrahepatic duct dilatation (IHD) results from complete obstruction of the biliary tract proximal to the hilar level. We aimed to evaluate long‐term efficacy and safety of endoscopic ultrasound (EUS) hepaticoduodenostomy (HDS) in segregated right IHD.MethodsConsecutive patients who had undergone EUS‐guided HDS with a fully covered self‐expandable metal stent (FCSEMS) in an academic tertiary center were recruited. All patients had segregated right hepatic duct and failed drainage by endoscopic retrograde cholangiopancreatography (ERCP). Demographic data, endoscopic findings, procedure details, and outcome data were extracted from a prospectively maintained database.ResultsFrom 2013 to 2017, there were 35 patients who had undergone EUS‐guided HDS with a median follow‐up duration of 169 (3–2091) days. Malignancy accounted for 71.4% of the ductal segregation, followed by surgical complication (17.1%). Technical and clinical success rate was 97.1% and 80%, respectively. Early adverse event (AE) happened in seven patients (20%), two of them required endoscopic reintervention, and no percutaneous transhepatic biliary drainage (PTBD) or surgery was performed because of AE. The median stent patency duration was 331 (3–1202) days. The median duration of fistula tract keeping was 1280 (3–1280) days. There was no significant difference in terms of patency rate with respect to whether the underlying pathology was benign or malignant (P = 0.776). EUS‐guided HDS for right posterior sectional duct segregation was associated with higher 3‐month stent patency rate when compared with right anterior sectional duct (79.1% vs 38.1%, P = 0.012).ConclusionEndoscopic ultrasound‐guided HDS with an FCSEMS appears to be a safe and effective treatment as a viable alternative option to PTBD after failed ERCP. It creates a durable and reliable fistula tract for permanent access to an isolated ductal system, and this application deserves more attention.