bluuebunny/crossref_metadata_2025_split huggingface dataset:
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome
Authors: Loh Abigail Y. T. , Špoljar Sanja , Neo Granville Y. W. , Escande‐Beillard Nathalie , Leushacke Marc , Luijten Monique N. H. , Venkatesh Byrappa , Bonnard Carine , van Steensel Maurice A. M. , Hamm Henning , Carmichael Andrew , Rajan Neil , Carney Thomas J. , Reversade Bruno 
Published: February 2022

AbstractHuriez syndrome (HRZ, OMIM181600) is a rare genodermatosis characterized by scleroatrophic hands and feet, hypoplastic nails, palmoplantar keratoderma, and predisposition to cutaneous squamous cell carcinoma (cSCC). We report herein three HRZ families from Croatia, the Netherlands, and Germany. Deep sequencing followed by Sanger validation, confirmed the presence of germline causative SMARCAD1 heterozygous pathogenic variants. All seven HRZ patients displayed hypohidrosis, adermatoglyphia, and one patient developed cSCC at 32 years of age. Two novel monoallelic germline mutations were identified which are predicted to disrupt the first exon‐intron boundary of the skin‐specific SMARCAD1 isoform. On the basis of phenotypic and genotypic convergence with Adermatoglyphia (OMIM136000) and Basan syndrome (OMIM129200), our results lend credence to the notion that these three Mendelian disorders are allelic. We propose adding Huriez syndrome to the previously suggested SMARCAD syndrome designation, which was originally invoked to describe the spectrum of monogenic disorders between Adermatoglyphia and Basan syndrome.
A comparison of four fetal biometry growth charts within an Australian obstetric population
Authors: Dry Candice , Pedretti Michelle K. , Nathan Elizabeth , Dickinson Jan E. 
Published: February 2022

AbstractPurposeThe aim of this study was to investigate the applicability of four existing fetal growth charts to a local tertiary hospital obstetric population.MethodFour existing fetal growth charts (the Raine study reference charts, INTERGROWTH‐21st charts, World Health Organization (WHO) fetal growth study charts and Australasian Society for Ultrasound in Medicine (ASUM) endorsed Campbell Westerway charts were compared using data from 11651 singleton pregnancy ultrasound scans at King Edward Memorial Hospital (KEMH). The 3rd, 10th, 50th 90th and 97th percentile curves for abdominal circumference (AC) biometry for the KEMH data were calculated and the four primary correlation parameters from fitted 3rd order polynomials (a, b, c and d) were used to generate like‐for‐like comparisons for all charts.ResultsThe overall comparisons showed a significant variation with different growth charts, giving different percentiles for the same fetal AC measurement. INTERGROWTH‐21st percentile curves tended to fall below those of other charts for AC measurements. Both the Raine Study charts and ASUM charts were the charts of closest overall fit to the local data.ConclusionOur data show the Raine Study charts are the most appropriate for our population compared with the other three charts assessed suggesting the ‘one size fits all’ model may not be appropriate. However, additional analysis of biometry measurements, primarily AC, is needed to address the deficiency of data at 14‐18 weeks gestation which exists for the Raine Study data.A reasonable alternative may be to adopt the WHO charts with local calibration (including the 14 ‐ 18 week gestation period).
Racial/ethnic disparities in initiation and persistent use of anti‐dementia medications
Authors: Zhu Carolyn W. , Neugroschl Judith , Barnes Lisa L. , Sano Mary 
Published: February 2022

AbstractBackgroundRacial/ethnic disparities in anti‐dementia medications use in longitudinally followed research participants are unclear.MethodsThe study included initially untreated participants followed in National Alzheimer's Coordinating Center Uniform Data Set who were ≥65 at baseline with Alzheimer's disease dementia.OutcomesOutcomes for acetylcholinesterase inhibitor (AChEI) treatment included (1) any new AChEI treatment during follow‐up, and (2) persistence of treatment during follow‐up categorized into: intermittent treatment (< 50% follow‐ups reporting treatment), persistent (≥50% follow‐ups), and always treated. Outcomes for memantine treatment were similarly constructed.ResultsControlling for participant characteristics, Black and Hispanic participants remained less likely than White participants to report any new AChEI or memantine treatment during follow‐up. Among those who reported new treatment during follow‐up, both Black and Hispanic participants were less likely than White participants to be persistently treated with AChEI and memantine.DiscussionSubstantial racial/ethnic treatment disparities remain in controlled settings of longitudinal research in which participants have access to dementia experts, suggesting wider disparities in the larger community.
The complex relationship between depression and progression to incident cognitive impairment across race and ethnicity
Authors: Babulal Ganesh M. , Zhu Yiqi , Roe Catherine M. , Hudson Darrell L. , Williams Monique M. , Murphy Samantha A. , Doherty Jason , Johnson Ann M. , Trani Jean‐Francois 
Published: February 2022

AbstractIntroductionWe examined baseline differences in depression and antidepressant use among cognitively normal older adults in five ethnoracial groups and assessed whether depression predicted a faster progression to incident cognitive impairment across groups.MethodsData from the National Alzheimer's Coordinating Center (n = 8168) were used to examine differences between non‐Hispanic Whites (nHW), African Americans (AA), Hispanics, Asians, and American Indian and Alaskan Natives in cross‐sectional and longitudinal models.ResultsAA had a lower risk of depression compared to nHW at baseline. No statistical interactions were noted between ethnoracial groups and depression. However, depression independently predicted a faster progression to incident cognitive impairment. Hispanics and Asian participants had a higher hazard for progression compared to nHW.DiscussionPreviously established risk factors between depression and dementia were not found among AA and nHW participants. The relationship between depression and ethnoracial groups is complex and suggests differential effects on progression from cognitive normality to impairment.
In Situ Halogen‐Ion Leaching Regulates Multiple Sites on Tandem Catalysts for Efficient CO2 Electroreduction to C2+ Products
Authors: Yang Ruoou , Duan Junyuan , Dong Panpan , Wen Qunlei , Wu Mao , Liu Youwen , Liu Yan , Li Huiqiao , Zhai Tianyou 
Published: February 2022

AbstractTandem catalysts can divide the reaction into distinct steps by local multiple sites and thus are attractive to trigger CO2RR to C2+ products. However, the evolution of catalysts generally exists during CO2RR, thus a closer investigation of the reconstitution, interplay, and active origin of dual components in tandem catalysts is warranted. Here, taking AgI−CuO as a conceptual tandem catalyst, we uncovered the interaction of two phases during the electrochemical reconstruction. Multiple operando techniques unraveled that in situ iodine ions leaching from AgI restrained the entire reduction of CuO to acquire stable active Cu0/Cu+ species during the CO2RR. This way, the residual iodine species of the Ag matrix accelerated CO generation and iodine‐induced Cu0/Cu+ promotes C−C coupling. This self‐adaptive dual‐optimization endowed our catalysts with an excellent C2+ Faradaic efficiency of 68.9 %. Material operando changes in this work offer a new approach for manipulating active species towards enhancing C2+ products.
Regio‐ and Enantioselective γ‐Allylic Alkylation of In Situ‐Generated Free Dienolates via Scandium/Iridium Dual Catalysis
Authors: Zhang Jian , Yang Wu‐Lin , Zheng Hanliang , Wang Yi , Deng Wei‐Ping 
Published: February 2022

AbstractAn unprecedented asymmetric γ‐allylic alkylation of free dienolates via Sc/Ir dual catalysis is reported, which affords a range of synthetically versatile γ‐allylic crotonaldehydes in high efficiency with excellent chemo‐, regio‐, and enantioselectivities. The dienolates bearing no essential auxiliary groups were generated in situ by scandium triflate‐mediated Meinwald rearrangement of vinyloxiranes atom‐economically. With the assistance of computational density functional theory calculations, a Sc/Ir bimetallic catalytic cycle was proposed to illustrate the reaction mechanism.
Real‐Time Monitoring of Dynamic Microbial Fe(III) Respiration Metabolism with a Living Cell‐Compatible Electron‐Sensing Probe
Authors: Chen Na , Du Na , Wang Wenjie , Liu Tiangang , Yuan Quan , Yang Yanbing 
Published: February 2022

AbstractMonitoring microbial metabolism is vital for biomanufacturing processes optimization. However, it remains a grand challenge to offer insight into microbial metabolism due to particularly complex and dynamic processes. Here, we report an electron‐sensing probe Zn2GeO4:Mn@Fe3+ for real‐time and dynamic monitoring of Fe(III) respiration metabolism. The quenched persistent luminescence of Zn2GeO4:Mn@Fe3+ is recovered when Fe3+ accepted electrons from the dynamic Fe(III) respiration metabolism, enabling the real‐time monitoring of microbial metabolism. The probe shows the capability to verify the role of related biomolecules in microbial Fe(III) respiration metabolism, to track the dynamic Fe(III) respiration metabolic response to environmental stress and microbial co‐culture interactions. Furthermore, the Zn2GeO4:Mn@Fe3+ probe provides guidance for improving biosynthesis efficiency by monitoring Fe redox recycling in microbial co‐culture.
Cofactor‐Driven Cascade Reactions Enable the Efficient Preparation of Sugar Nucleotides
Authors: Zheng Yuan , Zhang Jiabin , Meisner Jeffrey , Li Wanjin , Luo Yawen , Wei Fangyu , Wen Liuqing 
Published: February 2022

AbstractGlycosylation is catalyzed by glycosyltransferases using sugar nucleotides or occasionally lipid‐linked phosphosugars as donors. However, only very few common sugar nucleotides that occur in humans can be obtained readily, while the majority of sugar nucleotides that exist in bacteria, plants, archaea, or viruses cannot be synthesized in sufficient quantities by either enzymatic or chemical synthesis. The limited availability of such rare sugar nucleotides is one of the major obstacles that has greatly hampered progress in glycoscience. Herein we describe a general cofactor‐driven cascade conversion strategy for the efficient synthesis of sugar nucleotides. The described strategy allows the large‐scale preparation of rare sugar nucleotides from common sugars in high yields and without the need for tedious purification processes.
Synthesis of Molecular Phenylcalcium Derivatives: Application to the Formation of Biaryls
Authors: Pearce Kyle G. , Dinoi Chiara , Hill Michael S. , Mahon Mary F. , Maron Laurent , Schwamm Ryan S. , Wilson Andrew S. S. 
Published: February 2022

AbstractHydrocarbon‐soluble β‐diketiminato phenylcalcium derivatives, which display various modes of Ca−μ2‐Ph−Ca bridging, are accessible from reactions of Ph2Hg and [(BDI)CaH]2. Although the resultant compounds are inert toward the C−H bonds of benzene, they yield selective and uncatalyzed biaryl formation when reacted with readily available aryl bromides.
Photo‐Reduction with NIR Light of Nucleus‐Targeting PtIVNanoparticles for Combined Tumor‐Targeted Chemotherapy and Photodynamic Immunotherapy
Authors: Wei Dengshuai , Huang Yun , Wang Bin , Ma Lili , Karges Johannes , Xiao Haihua 
Published: February 2022

AbstractThe development of PtIVprodrugs which are selectively reduced within cancerous cells into their PtIItherapeutically active species has received increasing attention within the last decade. Despite recent research progress, the majority of investigated compounds are excited using ultraviolet or blue light. As the light penetration depth is low at these wavelengths, the treatment of deep‐seated or large tumors is limited. To overcome this limitation, herein, the example of PtIV‐functionalized nanoparticles that could be excited within the NIR region at 808 nm is reported. The polymer backbone which can self‐assemble into nanoparticles was functionalized with PtIVcomplexes for chemotherapy, photosensitizers for photodynamic immunotherapy, and nucleus/cancer‐targeting peptides. Upon irradiation, the PtIVcenter is reduced to PtIIand the axially coordinated ligands are released, presenting a multimodal treatment. While selectively accumulating in tumorous tissue, the nanoparticles demonstrated the ability to eradicate a triple‐negative breast cancer tumor inside a mouse model.
Selective Coupling of 1,2‐Bis‐Boronic Esters at the more Substituted Site through Visible‐Light Activation of Electron Donor–Acceptor Complexes
Authors: Wang Hui , Wu Jingjing , Noble Adam , Aggarwal Varinder K. 
Published: February 2022

Abstract1,2‐Bis‐boronic esters are useful synthetic intermediates particularly as the two boronic esters can be selectively functionalized. Usually, the less hindered primary boronic ester reacts, but herein, we report a coupling reaction that enables the reversal of this selectivity. This is achieved through the formation of a boronate complex with an electron‐rich aryllithium which, in the presence of an electron‐deficient aryl nitrile, leads to the formation of an electron donor–acceptor complex. Following visible‐light photoinduced electron transfer, a primary radical is generated which isomerizes to the more stable secondary radical before radical‐radical coupling with the arene radical‐anion, giving β‐aryl primary boronic ester products. The reactions proceed under catalyst‐free conditions. This method also allows stereodivergent coupling of cyclic cis‐1,2‐bis‐boronic esters to provide trans‐substituted products, complementing the selectivity observed in the Suzuki–Miyaura reaction.
Allosteric Binding‐Induced Intramolecular Mechanical‐Strain Engineering
Authors: Ma Wenxian , Cheng Tingting , Liu Fang‐Zi , Liu Yan , Yan KaKing 
Published: February 2022

AbstractRecently, polymer mechanochemistry has attracted much scientific interest due to its potential to develop degradable polymers. When the two ends of a polymer chain experience a linear pulling stress, molecular strain builds up, at sufficiently strong force, a bond scission of the weakest covalent bond results. In contrast, bond‐breaking events triggered by conformational stress are much less explored. Here, we discovered that a Zn salen complex would undergo conformational switching upon allosteric complexation with alkanediammonium guests. By controlling the guest chain length, the torsional strain experienced by Zn complex can be modulated to induce bond cleavage with chemical stimulus, and reactivity trend is predicted by conformational analysis derived by DFT calculation. Such strain‐release reactivity by a Zn(salen) complex initiated by guest binding is reminiscent of conformation‐induced reactivity of enzymes to enable chemical events that are otherwise inhibited.
Care of the Patient Undergoing Robotic‐Assisted Brain Biopsy With Stereotactic Navigation: An Overview
Authors: Karasin Beth , Hardinge Tara , Eskuchen Lauren , Watkinson Johanna 
Published: February 2022

ABSTRACTBrain tumors can cause pressure, swelling, and functional changes to the surrounding tissue and lead to sensorimotor symptoms. Such tumors are either benign or malignant and their origin can be primary or metastatic. Although diagnostic studies (eg, computed tomography and magnetic resonance imaging) can reveal a mass and provide information on its location, size, and relationship to surrounding structures, the most definitive way to make a diagnosis requires a brain biopsy tissue sample. The robotic‐assisted technique with stereotactic navigation allows the neurosurgeon to merge preoperative scans with a computer program to provide a map of the planned surgical trajectory and use the robot to obtain the biopsy. The robotic‐assisted brain biopsy with navigation provides improved accuracy with small incisions that may not be possible using non–robotic‐assisted techniques. This article provides background information and an overview of the nursing considerations for patients undergoing robotic‐assisted brain biopsy procedures.
Development and properties of UV‐cured poly (propylene fumarate)/hydroxyapatite composites coatings as potential application for bone adhesive tape
Authors: Wang Liang , Chen Bing‐yu , Ji Meng‐hao , Guo Da‐gang , He Xin‐hai , Lashari Najeeb ur Rehman , Fu Chong , Zheng Jing 
Published: February 2022

AbstractAs an alternative for polymethyl methacrylate, poly (propylene fumarate) (PPF) has been considered as injectable and biodegradable bone cement; therefore, its mechanical and degradation properties are particularly important. As an environmentally friendly PPF‐based copolymer, which is reinforced by hydroxyapatite, was studied for the properties of the composite. The composites were investigated by evaluating their mechanical properties, hydrophilicity, in vitro degradability, and cytocompatibility. Furthermore, via applying MC3T3‐E1 cells, their cell interaction, including adhesion, proliferation, and in vitro cytotoxicity assay, were assessed. The composite reinforced with 3 wt% hydroxyapatite showed a higher lap‐shear strength (0.71 MPa) and bonding strength (5.24 MPa), a maximum compression strength at fracture (92.44 MPa), and compression strength at yield (35.44 MPa), respectively. Also, mechanical strength, hydrophilicity, and in vitro degradation of composites were enhanced in the presence of hydroxyapatite. In this condition, after a period of immersion (52 weeks) in PBS, the weight loss and degradation rate of composites were found to increased. Cell culture tests indicated that the composite was nontoxic and meaningfully facilitated cell attachment and proliferation. Accordingly, controllable strength and degradation of the composite, along with its proven biocompatibility, make the composite a candidate for the treatment of comminuted fractures.
Self‐Assembled Human Skin Equivalents Model Macrophage Activation of Cutaneous Fibrogenesis in Systemic Sclerosis
Authors: Huang Mengqi , Smith Avi , Watson Matthew , Bhandari Rajan , Baugh Lauren M. , Ivanovska Irena , Watkins Trishawna , Lang Irene , Trojanowska Maria , Black Lauren D. , Pioli Patricia A. , Garlick Jonathan , Whitfield Michael L. 
Published: February 2022

ObjectiveThe development of precision therapeutics for systemic sclerosis (SSc) has been hindered by the lack of models that accurately mimic the disease in vitro. This study was undertaken to design and test a self‐assembled skin equivalent (saSE) system that recapitulates the cross‐talk between macrophages and fibroblasts in cutaneous fibrosis.MethodsSSc‐derived dermal fibroblasts (SScDFs) and normal dermal fibroblasts (NDFs) were cultured with CD14+ monocytes from SSc patients or healthy controls to allow de novo stroma formation. Monocyte donor–matched plasma was introduced at week 3 prior to seeding keratinocytes to produce saSE with a stratified epithelium. Tissue was characterized by immunohistochemical staining, atomic force microscopy, enzyme‐linked immunosorbent assay, and quantitative reverse transcriptase–polymerase chain reaction.ResultsStroma synthesized de novo from NDFs and SScDFs supported a fully stratified epithelium to form saSE. A thicker and stiffer dermis was generated by saSE with SScDFs, and more interleukin‐6 and transforming growth factor β (TGFβ) was secreted by saSE with SScDFs compared to saSE with NDFs, regardless of the inclusion of monocytes. Tissue with SSc monocytes and plasma had amplified dermal thickness and stiffness relative to control tissue. Viable CD163+ macrophages were found within the stroma of saSE 5 weeks after seeding. Additionally, SSc saSE contained greater numbers of CD163+ and CD206+ macrophages compared to control saSE. TGFβ blockade inhibited stromal stiffness to a greater extent in SSc saSE compared to control saSE.ConclusionThese data suggest reciprocal activation between macrophages and fibroblasts that increases tissue thickness and stiffness, which is dependent in part on TGFβ activation. The saSE system may serve as a platform for preclinical therapeutic testing and for molecular characterization of SSc skin pathology through recapitulation of the interactions between macrophages and fibroblasts.
Critical Role of Notch‐1 in Mechanistic Target of Rapamycin Hyperactivity and Vascular Inflammation in Patients With Takayasu Arteritis
Authors: Jiang Wanwan , Sun Mengyao , Wang Ying , Zheng Ming , Yuan Zixin , Mai Shixiong , Zhang Xin , Tang Longhai , Liu Xiyu , Wang Chunhong , Wen Zhenke 
Published: February 2022

ObjectiveTakayasu arteritis (TA) is a major type of large vessel vasculitis characterized by progressive inflammation in vascular layers. In our recent study we identified a central role of mechanistic target of rapamycin (mTOR) hyperactivity in proinflammatory T cell differentiation in TA. This study was undertaken to explore potential mechanisms underpinning T cell–intrinsic mTOR hyperactivity and vascular inflammation in TA, with a focus on Notch‐1.MethodsNotch‐1 expression and activity was determined according to Notch‐1, activated Notch‐1, and HES‐1 levels. We detected mTOR activity with intracellular expression of phosphorylated ribosomal protein S6. Differentiation of proinflammatory T cells was analyzed by detecting Th1 and Th17 lineage‐determining transcription factors. The function of Notch‐1 was evaluated using γ‐secretase inhibitor DAPT and gene knockdown using a short hairpin RNA (shRNA) strategy. We performed our translational study using humanized NSG mouse chimeras in which human vasculitis was induced using immune cells from TA patients.ResultsCD4+ T cells from TA patients exerted Notch‐1high, leading to mTOR hyperactivity and spontaneous maldifferentiation of Th1 cells and Th17 cells. Blockade of Notch‐1 using DAPT and Notch‐1 shRNA efficiently abrogated mTOR complex 1 (mTORC1) activation and proinflammatory T cell differentiation. Mechanistically, Notch‐1 promoted mTOR expression, interacted with mTOR, and was associated with lysosomal localization of mTOR. Accordingly, systemic administration of DAPT and CD4+ T cell–specific gene knockdown of Notch‐1 could alleviate vascular inflammation in humanized TA chimeras.ConclusionExpression of Notch‐1 is elevated in CD4+ T cells from TA patients, resulting in mTORC1 hyperactivity and proinflammatory T cell differentiation. Targeting Notch‐1 is a promising therapeutic strategy for the clinical management of TA.
Construction of a Nanorod Structure‐Confined Pt@CeO2 Catalyst by an In‐Situ Encapsulation Strategy for Low‐Temperature Catalytic Oxidation of Toluene
Authors: Ma Siyi , Han Weiliang , Dong Fang , Tang Zhicheng 
Published: February 2022

AbstractIn this work, Pt@CeO2 catalysts with a nanorod structure (Pt@CeO2−R) and a bunch structure (Pt@CeO2−B) were synthesized through an in‐situ encapsulation strategy of Pt species in Ce‐MOFs, respectively. It was discovered that the Pt@CeO2−R catalyst possessed the best catalytic performance for toluene catalytic combustion, and this result was mainly caused by the confinement of Pt nanoparticles in Ce−MOFs, which was related to the chemical state of Pt species, redox ability, and the amount of active oxygen species. The Pt@CeO2−R catalyst contained more Ce3+ species, rich Pt4+ species, and abundant active oxygen species due to the existence of the confined effect, which was conducive to promote catalytic oxidation of toluene. In addition, the Pt@CeO2−R catalyst also exhibited more redox ability, which may speed up the catalytic reaction rates. On the contrary, the Pt/CeO2−R catalyst was synthesized through a simple impregnation method and exhibited the poor activity for toluene catalytic combustion due to poor Pt4+ species and active oxygen species. Therefore, this work provides a feasible experimental basis for the study of different morphologies and encapsulated metal nanoparticles.