bluuebunny/crossref_metadata_2025_split huggingface dataset:
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation
Authors: Acosta‐Fernández Elizabeth , Zenteno Juan C. , Chacón‐Camacho Oscar F. , Peña‐Padilla Christian , Bobadilla‐Morales Lucina , Corona‐Rivera Alfredo , Romo‐Huerta Carmen O. , Zepeda‐Romero Luz C. , López‐Marure Eloy , Acosta‐León Jorge , García‐Cruz Diana , Maciel‐Cruz Eric Jonathan , Corona‐Rivera Jorge Román 
Published: February 2020

AbstractWe report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial corpus callosum agenesis, ocular melanocytosis, pigmentary glaucoma, duplex collecting system, uterus didelphys, and septate vagina. She was found to have a novel pathogenic variant in exon 5 of EFNB1, c.646G>T (p.Glu216*) predicted to cause premature protein truncation. From our review, we found at least 39 published CFNS patients with extracranial midline defects, comprising congenital diaphragmatic hernia, congenital heart defects, umbilical hernia, hypospadias, and less frequently, sacrococcygeal teratomas, and internal genital anomalies in females. These findings support that the EFNB1 mutations have systemic consequences disrupting morphogenetic events at the extracranial midline. Though these are not rigorously included as midline defects, we found at least 10 CFNS patients with congenital anomalies of the kidney and urinary tract, all females. Additionally, uterus didelphys and ocular melanocytosis observed in our patient are proposed also as a previously unreported EFNB1‐related midline defects. In addition, this case may be useful for considering the intentional search for genitourinary anomalies in future patients with CFNS, which will be helpful to define their frequency in this entity.
Homozygous deletion of exons 2–7 within TGFB3 gene in a child with severe Loeys‐Dietz syndrome and Marfan‐like features
Authors: Mégarbané André , Deepthi Asha , Obeid Marc , T. Al‐Ali Mahmoud , Gambarini Alicia , El‐Hayek Stephany 
Published: February 2020

AbstractWe describe a patient with palatal abnormalities—cleft palate and bifid uvula; distinctive facial features—long and triangular face, large ears and nose, thin lips and dental crowding; musculoskeletal abnormalities—severe scoliosis, joint laxity, long digits, flat feet, decreased muscle mass, and diminished muscle strength; and cardiac features—a dilatated ascending aorta at the level of Valsalva sinuses and a patent foramen ovale. Sequence analysis and deletion/duplication testing for a panel of genes involved in connective tissue disorders revealed the presence of a novel homozygous deletion of exons 2–7 in TGFB3 gene. Heterozygous pathogenic mutations in TGFB3 have been associated with Loeys‐Dietz syndrome 5 (LDS5) and Arrhythmogenic Right Ventricular Dysplasia type 1. Here, we report the first case of a homozygous TGFB3 variant associated with a severe LDS5 and Marfan‐like presentation.
Irradiated Ch/GG/PVP‐based stimuli‐responsive hydrogels for controlled drug release
Authors: Raza Muhammad Asim , Park Sang Hyun 
Published: February 2020

AbstractHydrogels based on gamma (γ) irradiated chitosan (pre‐irradiated), guar gum, and polyvinyl pyrrolidone were crosslinked with various concentrations of (3‐mercapto propyl)trimethoxysilane and fabricated by solution casting technique for the drug delivery applications. High molecular weight chitosan (Ch) possesses lower solubility and higher viscosity, these problems overcame by γ irradiation, which also generated hydrophilicity and effect of irradiated Ch on controlled drug release was assessed. FTIR analysis showed the development of chemical and physical interactions and confirmed the incorporation of characteristic peaks. SEM micrographs revealed porous structure of the prepared hydrogels. Swelling analysis of the hydrogels was performed in distilled water, buffer, and electrolyte mediums. All the hydrogel samples showed higher swelling at acidic pH and lower swelling at neutral and basic pH. These pH‐responsive characteristics made these RCGP hydrogels an important contender for injectable controlled drug release. The ampicillin sodium drug was loaded and in vitro controlled release mechanism was evaluated in the PBS, SIF, and SGF which shown out of all prepared hydrogels (RCGP‐1, RCGP‐2, and RCGP‐3), RCGP‐1 has exhibited 87.4% release in PBS and 81.3% in SIF in 180 min.
Preparation and anticorrosion resistance of a self‐curing epoxy nanocomposite coating based on mesoporous silica nanoparticles loaded with perfluorooctyl triethoxysilane
Authors: Tang Gongwen , Ren Tingting , Yan Zhishan , Ma Linrong , Hou Xiangyu , Huang Xin 
Published: February 2020

AbstractOrganic coatings are prone to failure due to diffusion of the corrosion media toward the metal surface through the microcracks caused by internal and environmental stresses especially in immersion environment. In order to extend the service lifetime of organic coatings, we developed a self‐curing epoxy resin/perfluorooctyl triethoxysilane (POTS)‐loaded mesoporous silica nanoparticles (MSNs) nanocomposite (SEP/POTS‐MSNs) coating, by embedding the POTS‐loaded MSNs (POTS‐MSNs) into an SEP resin. Fourier transform infrared, X‐ray photoelectron spectroscopy, and Brunauer–Emmett–Teller analyses were conducted to confirm the successful loading of POTS in the MSNs. Thermogravimetric analysis was used to characterize the loading amount of POTS. The corrosion protection properties of the SEP, SEP/MSNs, and SEP/POTS‐MSNs coatings were evaluated by electrochemical impedance spectroscopy and potentiodynamic polarization tests. The results indicate that the SEP/POTS‐MSNs coating with only 30 μm thickness showed corrosion resistance with Z
f = 0.01 Hz of 4.7 × 108 Ω/cm2 and icorr of 0.026 nA/cm2 after 58 hr of immersion in boiling water, which were both two orders of magnitude higher than those of the SEP coating. The SEP/POTS‐MSNs coating combines the advantages of the SEP coating and the POTS‐MSNs. We anticipate that the SEP/POTS‐MSNs coating has promising potential for use in immersion environments.
Two‐Dimensional Membranes: New Paradigms for High‐Performance Separation Membranes
Authors: Cheng Youdong , Pu Yunchuan , Zhao Dan 
Published: February 2020

AbstractTwo‐dimensional (2D) materials with atomic thicknesses have aroused great interest as promising building blocks for the preparation of ultrathin 2D membranes. These 2D membranes can exhibit unprecedentedly high separation permeance owing to their ultrasmall membrane thicknesses and superior selectivity because of their size‐selective nanopores and/or nanochannels. Until now, a large number of 2D membranes with good performance have been reported, highlighting the potential of these novel membranes for efficient liquid and gas separations. Summarized in this review are the latest advances in 2D membranes, with a special focus on industrially attractive separation processes, fabrication methods of laminar membranes, choices of membrane materials, designs of membrane structures, and unique membrane transport properties. Opportunities and challenges of 2D membranes for commercial applications are also briefly discussed.
Decadal variations of the East Asian winter monsoon in recent decades
Authors: Miao Jiapeng , Wang Tao 
Published: February 2020

AbstractObservational studies indicated that the East Asian winter monsoon (EAWM) showed significant decadal variations and experienced an interdecadal weakening in the mid‐1980s. How did the EAWM evolve thereafter? In this study, we investigate the decadal variations of the EAWM in the past three decades using five reanalysis datasets and one observational dataset. In total, five members of EAWM system are examined. In the lower troposphere, the Siberian high intensity becomes stronger around 2005 in all five reanalysis datasets, whereas the Aleutian low strengthens in the mid‐1990s and weakens in the mid‐2000s. The two subsystems show opposing changes in the past two decades. In the middle troposphere, the intensity of the East Asian trough remains weakening in recent decades only with some short‐time strengthening around the years of 1995 and 2010. In the upper troposphere, the EAWM index based on the meridional shear of the East Asian jet stream at the 300‐hPa level shows a weak positive trend since the 1990s. It has decadal variations similar to those of the East Asian trough. In the context of these members' changes, the low‐level northerly wind index exhibits two cycles since the year 1980. This index increases in the mid‐1980s, then decreases since the mid‐1990s, and finally increases in the mid‐2000s. Further analysis on the East Asian surface air temperature also reflects similar decadal variations. In summary, unlike the interdecadal shift in the mid‐1980s, the EAWM members (i.e., the Siberian high, the Aleutian low, the low‐level northwesterly wind, the East Asian trough and the East Asian jet stream) do not show consistent decadal variations over the past 30 years. The low‐level members show more significant changes.
Nonlinear and time‐dependent effects of sparsely measured continuous time‐varying covariates in time‐to‐event analysis
Authors: Wang Yishu , Beauchamp Marie‐Eve , Abrahamowicz Michal 
Published: February 2020

AbstractMany flexible extensions of the Cox proportional hazards model incorporate time‐dependent (TD) and/or nonlinear (NL) effects of time‐invariant covariates. In contrast, little attention has been given to the assessment of such effects for continuous time‐varying covariates (TVCs). We propose a flexible regression B‐spline–based model for TD and NL effects of a TVC. To account for sparse TVC measurements, we added to this model the effect of time elapsed since last observation (TEL), which acts as an effect modifier. TD, NL, and TEL effects are estimated with the iterative alternative conditional estimation algorithm. Furthermore, a simulation extrapolation (SIMEX)‐like procedure was adapted to correct the estimated effects for random measurement errors in the observed TVC values. In simulations, TD and NL estimates were unbiased if the TVC was measured with a high frequency. With sparse measurements, the strength of the effects was underestimated but the TEL estimate helped reduce the bias, whereas SIMEX helped further to correct for bias toward the null due to “white noise” measurement errors. We reassessed the effects of systolic blood pressure (SBP) and total cholesterol, measured at two‐year intervals, on cardiovascular risks in women participating in the Framingham Heart Study. Accounting for TD effects of SBP, cholesterol and age, the NL effect of cholesterol, and the TEL effect of SBP improved substantially the model's fit to data. Flexible estimates yielded clinically important insights regarding the role of these risk factors. These results illustrate the advantages of flexible modeling of TVC effects.
Non‐isothermal crystallization of Ziegler Natta i‐PP‐graphene nanocomposite: DSC and new model prediction
Authors: Ahmed Abdullah K. , Atiqullah Muhammad , Al‐Harthi Mamdouh A. , Abdelaal Ahmed F. , Pradhan Dev R. 
Published: February 2020

AbstractCrystallization occurs in processing i‐PP‐GnP nanocomposites, and these nanocomposites have the potential to replace traditional fillers and be used to fabricate advanced materials and technology. Therefore, this subject was comprehensively investigated by applying a recent crystallization model, non‐isothermal DSC experiments, Raman spectroscopy, and WAXRD. The multi‐layer GnP‐induced nucleation and the crystal growth rates were modelled. The overall modelling effort generated new insights, results, and explanations. This study confirmed and elucidated, or refuted several published conclusions. It has also been reported that the present model can pursue differences in catalyst‐mediated i‐PP backbone defects (stereo and regio) by simulating the relative crystallization profile and determining the crystallization kinetic triplet (n, k
o, and E
a). The multiple roles played by GnP were underscored, which exceed what the related literature currently reports. The Raman and XRD work revealed the interaction between GnP and i‐PP. The shear‐induced dispersion of GnP that occurs during extrusion significantly affected i‐PP crystal size distribution. The present approach can also assess the effects of catalyst type and structure, and backbone defect types and their distribution on the non‐isothermal crystallization of, in general, polyolefin blends and nanocomposites.
Optimization strategies and impact of low oil price on long term SAGD projects
Authors: Ranjbar Ehsan , Nourozieh Hossein , Kumar Anjani 
Published: February 2020

AbstractSteam assisted gravity drainage (SAGD) has been known as a commercially proven high ultimate recovery process for bitumen and heavy crudes. It is an energy intensive process, which is economical when oil price is above certain value. When the oil price goes below the economic threshold of project, steam injection can be decreased or completely stopped for a certain period of time, and can resume thereafter when the condition alters. The objective of this study is to provide comprehensive information about the effect of steam injection interruptions on thermal project performance. An optimization strategy for the SAGD process, in cases where steam injection interruption occurs, is discussed using actual reservoir models of different geological formations. An economical model is used to evaluate operating strategy effect on the net present value (NPV) of the project. The parameters, like shut‐in period, initial steam injection period, etc, are optimized for Athabasca type oil sand reservoirs. The results show several key mechanisms exist in the life cycle of the SAGD process that must be included to reflect the field scale behaviour; otherwise, the mechanistic simplicity of the models could lead to directional and semi‐quantitative conclusions. Among the mechanisms, temperature effect on basic petrophysical properties of reservoir rocks was found to have an important role in the oil recovery, and considerably impacts the results of optimization. When the steam injection is interrupted, an optimum shut‐in period can be determined to maximize the oil recovery. The optimum length of steam injection interruption depends on the initial steam injection period.
NTRK fusions in osteosarcoma are rare and non‐functional events
Authors: Ameline Baptiste , Saba Karim H , Kovac Michal , Magnusson Linda , Witt Olaf , Bielack Stefan , Nathrath Michaela , Nord Karolin H , Baumhoer Daniel 
Published: February 2020

AbstractNeurotrophic tyrosine receptor kinase (NTRK) fusions are promising molecular targets that have been described in a broad range of malignant tumours. Fusions commonly lead to the expression of chimeric proteins with constitutive tyrosine kinase activation that drives tumorigenesis. Despite a low prevalence among most solid tumours (<1%), the first encouraging results with pan‐NTRK tyrosine kinase inhibitors (TKIs) such as larotrectinib or entrectinib stimulated the search for eligible patients. Here, we report the first three cases of osteosarcoma harbouring NTRK fusions, among 113 patients sequenced. It is also the first report on NTRK fusions within a tumour type characterised by highly rearranged genomes and abundant passenger mutations. Whereas the presence of NTRK gene fusions in many tumours is considered to be one of the main driver events for tumour progression, the three chimeric transcripts described here appear non‐functional and likely represent randomly occurring passenger alterations. Particularly in tumours with complex karyotypes, it may therefore be advisable to specifically investigate the fusion transcripts for functional impact before considering targeted treatment approaches using pan‐NTRK TKIs.
New Efficient Eco‐Friendly Supported Catalysts for the Synthesis of Amides with Antioxidant and Anti‐Inflammatory Properties
Authors: Dufrénoy Pierrick , Charlet Rogatien , Hechelski Marie , Daïch Adam , Waterlot Christophe , Jawhara Samir , Ghinet Alina 
Published: February 2020

AbstractA new environmentally friendly approach for the synthesis of idrocilamide (1), a marketed myorelaxant and anti‐inflammatory agent, is reported herein. The synthetic strategy involves a solvent‐free aminolysis reaction catalyzed by zinc‐containing species (ZnCl2, montmorillonite K10 (MK10) impregnated with ZnCl2 or eco‐catalysts). The latter have been prepared from the aerial parts of Lolium perenne L. plants grown on contaminated soils from northern France without and with thermal activation at 120 °C and supported on MK10 (Ecocat1 and Ecocat2, respectively). The best aminolysis catalysts in the current study (ZnCl2 and Ecocat2) were selected for additional aminolyses. Compared to ZnCl2, Ecocat2 had the advantage of being reusable over five test runs and constituted a sustainable catalyst allowing a green route to idrocilamide. Synthesized derivatives 1–4, 6 and 9 were first evaluated for their effect on reactive oxygen species (ROS) generation from macrophages and displayed antioxidant properties by preventing ROS production. Next, the analysis of the effect of molecules 1–4, 6 and 9 on macrophage migration between epithelial cells to human opportunistic fungus Candida albicans indicated that molecules 2–4, 6 and 9 exert anti‐inflammatory properties via reducing macrophage migration while the parent idrocilamide (1) did not show any significant effect. This work opens the way for the discovery of new analogues of idrocilamide with improved properties.
The Milan system for reporting salivary gland cytology: A retrospective analysis of 1384 cases in a tertiary Southeast Asian institution
Authors: Lee Jaslyn Jie Lin , Tan Hui Min , Chua Darren Yee Shuen , Chung Jocelycn Gaik Kooi , Nga Min En 
Published: February 2020

BackgroundThe Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) aims to provide a common language for risk stratification and management. We examine the incidence of MSRSGC categories and the corresponding risk of malignancy (ROM) within a tertiary referral centre in Southeast Asia.MethodsSalivary gland fine needle aspirations (FNAs) performed within a 10‐year period were classified retrospectively according to the MSRSGC. Cytohistologic correlation was performed. The results were compared with the existing literature, including Asian and Western studies.ResultsA total of 1384 salivary gland FNAs were evaluated, 421 with corresponding histology. The category distribution was: nondiagnostic, 28.9%; nonneoplastic, 18.0%; atypia of undetermined significance (AUS), 9.8%; benign neoplasm, 32.9%; salivary gland neoplasm of uncertain malignant potential (SUMP), 5.7%; suspicious for malignancy, 1.6%; and malignant, 3.2%. The ROMs were: nondiagnostic, 10.0%; nonneoplastic, 17.5%; AUS, 29.5%; benign neoplasm, 0.5%; SUMP, 17.1%; suspicious for malignancy, 83.3%; and malignant, 100.0%. Our relatively high nondiagnostic rate likely reflects preanalytical factors, whereas our low malignancy rate may be related to population and health care accessibility. Our nonneoplastic ROM was 17.5% compared with 5% to 10% in the literature, likely due to the relatively small number of excised cases; the ROM for SUMP was 17.1% versus 21% to 44% in the literature, possibly reflecting a significant proportion of benign basaloid neoplasms on histology. Interestingly, all false‐negative cases in the nonneoplastic category were lymphoid‐rich lesions.ConclusionThis is one of the largest single‐institution studies in the existing literature documenting both the incidence and ROMs of MSRSGC categories. We also highlight specific challenges surrounding lymphoid‐rich lesions.
Diagnostic accuracy of brush biopsy–based cytology for the early detection of oral cancer and precursors in Fanconi anemia
Authors: Velleuer Eunike , Dietrich Ralf , Pomjanski Natalia , de Santana Almeida Araujo Isabela Karoline , Silva de Araujo Bruno Eduardo , Sroka Isis , Biesterfeld Stefan , Böcking Alfred , Schramm Martin 
Published: February 2020

BackgroundIndividuals with Fanconi anemia (FA) have a 500‐fold to 700‐fold elevated risk, much earlier onset, and limited therapeutic options for oral squamous cell carcinoma (SCC) compared with the general population. The early detection of SCC, or preferably its precursors, is mandatory to retain curative therapeutic options. Due to frequent synchronic and metachronic oral lesions, tissue biopsies, as usually recommended by guidelines, often are not feasible. In the current study, an alternative strategy for early detection using oral brush biopsy–based cytology was validated regarding its diagnostic accuracy.MethodsOver a 12‐year period, the oral cavities of a large cohort of 713 individuals with FA were inspected systematically and brush biopsy–based cytology of 1233 visible oral lesions was performed. In cases of inconclusive cytology, analysis of DNA ploidy was performed whenever possible. The results were correlated to a long‐term clinicopathological follow‐up reference standard.ResultsA total of 737 lesions were suitable for statistical analysis, including 86 lesions with at least high‐grade oral epithelial dysplasia in 30 patients. For cytology, the sensitivity and specificity were 97.7% and 84.5%, respectively. Additional analysis of DNA ploidy increased the sensitivity and specificity to 100% and 92.2%, respectively.ConclusionsCareful inspection of the oral cavity of individuals with FA followed by brush biopsy–based cytology appears to identify visible oral, potentially malignant and malignant lesions that warrant treatment. Approximately 63% of SCC and precursor lesions are detected at a noninvasive or early stage. Negative cytology or a lack of DNA aneuploidy can exclude high‐grade oral epithelial dysplasia or SCC with high accuracy and thus reduce the need for invasive diagnostic biopsies.
Customized stent‐grafts for endovascular aneurysm repair with challenging necks: A numerical proof of concept
Authors: Hemmler André , Lin Andrew , Thierfelder Nikolaus , Franz Thomas , Gee Michael W. , Bezuidenhout Deon 
Published: February 2020

AbstractEndovascular aortic repair (EVAR) is a challenging intervention whose long‐term success strongly depends on the appropriate stent‐graft (SG) selection and sizing. Most off‐the‐shelf SGs are straight and cylindrical. Especially in challenging vessel morphologies, the morphology of off‐the‐shelf SGs is not able to meet the patient‐specific demands. Advanced manufacturing technologies facilitate the development of highly customized SGs. Customized SGs that have the same morphology as the luminal vessel surface could considerably improve the quality of the EVAR outcome with reduced likelihoods of EVAR related complications such as endoleaks type I and SG migration. In this contribution, we use an in silico EVAR methodology that approximates the deployed state of the elastically deformable SG in a hyperelastic, anisotropic vessel. The in silico EVAR results of off‐the‐shelf SGs and customized SGs are compared qualitatively and quantitatively in terms of mechanical and geometrical parameters such as stent stresses, contact tractions, SG fixation forces and the SG‐vessel attachment. In a numerical proof of concept, eight different vessel morphologies, such as a conical vessel, a barrel shaped vessel and a curved vessel, are used to demonstrate the added value of customized SGs compared to off‐the‐shelf SGs. The numerical investigation has shown large benefits of the highly customized SGs compared to off‐the‐shelf SGs with respect to a better SG‐vessel attachment and a considerable increase in SG fixation forces of up to 50% which indicate decreased likelihoods of EVAR related complications. Hence, this numerical proof of concept motivates further research and development of highly customized SGs for the use in challenging vessel morphologies.