bluuebunny/crossref_metadata_2025_split huggingface dataset:
Severe diarrhea in a 10‐year‐old girl with Aicardi–Goutières syndrome due to IFIH1 gene mutation
Authors: Lu Meiping , Zhu Kun , Zheng Qi , Ma Xiaohui , Zou Lixia 
Published: July 2021

AbstractInterferon‐induced with helicase C domain 1 (IFIH1) is a cytosolic sensor of dsRNA that induces an anti‐viral Type I interferon (IFN) state. A gain‐of‐function mutation in IFIH1 can cause increased Type I IFN activity and is clinically associated with Aicardi–Goutières syndrome (AGS). AGS is a multisystem disease, characterized as an early‐onset progressive encephalopathy with basal ganglia calcification and systemic lupus erythematosus‐like features. Gastrointestinal manifestation is rare in AGS patients. We described a 10‐year‐old female patient with a heterozygous IFIH1 gene mutation who presented with gastrointestinal colitis, cystitis and very severe diarrhea as initial major manifestations of AGS. Proteinuria with high titer of antinuclear antibody and anti‐double‐stranded DNA was found in this patient. She also had growth retardation and a history of seizures (about two episodes each year) but without attacks until 7 years old. Serum cytokines detected by flow cytometry indicated extremely high level of interleukin 6 (1970.1 pg/ml) and IFN‐α (204.1 pg/ml). A contrast‐enhanced CT scan of the whole abdomen and an intestinal hydro‐MRI indicated that the walls of her stomach, small bowel, colon, and bladder were in various degrees of edema and thickened states. Whole exome sequencing analysis indicated that she harbors an IFIH1 heterozygous mutation (c.2336G > A (p.R779H)) in both blood and intestinal samples. Abundant inflammatory cells infiltration into the intestinal epithelium was observed by immunohistochemical staining. Positive staining of caspase 4 and caspase 5 suggested that the signaling pathway of pyroptosis was involved in the mechanism of intestinal inflammation in AGS. Diarrhea was significantly improved after steroids and intravenous immunoglobulin treatments. Gastrointestinal colitis and cystitis can be rare manifestations of AGS with IFIH1 mutation. Caspase and its related inflammasome pathway may involve in the pathogenesis of AGS.
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals
Authors: Naslavsky Michel S. , Scliar Marília O. , Nunes Kelly , Wang Jaqueline Y. T. , Yamamoto Guilherme L. , Guio Heinner , Tarazona‐Santos Eduardo , Duarte Yeda A. O. , Passos‐Bueno Maria Rita , Meyer Diogo , Zatz Mayana 
Published: July 2021

AbstractDiagnosis of individuals affected by monogenic disorders was significantly improved by next‐generation sequencing targeting clinically relevant genes. Whole exomes yield a large number of variants that require several filtering steps, prioritization, and pathogenicity classification. Among the criteria recommended by ACMG, those that rely on population databases critically affect analyses of individuals with underrepresented ancestries. Population‐specific allelic frequencies need consideration when characterizing potential deleteriousness of variants. An orthogonal input for classification is annotation of variants previously classified as pathogenic as a criterion that provide supporting evidence widely sourced at ClinVar. We used a whole‐genome dataset from a census‐based cohort of 1,171 elderly individuals from São Paulo, Brazil, highly admixed, and unaffected by severe monogenic disorders, to investigate if pathogenic assertions in ClinVar are enriched with higher proportions of European ancestry, indicating bias. Potential loss of function (pLOF) variants were filtered from 4,250 genes associated with Mendelian disorders and annotated with ClinVar assertions. Over 1,800 single nucleotide pLOF variants were included, 381 had non‐benign assertions. Among carriers (N = 463), average European ancestry was significantly higher than noncarriers (N = 708; p = .011). pLOFs in genomic contexts of non‐European local ancestries were nearly three times less likely to have any ClinVar entry (OR = 0.353; p <.0001). Independent pathogenicity assertions are useful for variant classification in molecular diagnosis. However, European overrepresentation of assertions can promote distortions when classifying variants in non‐European individuals, even in admixed samples with a relatively high proportion of European ancestry. The investigation and deposit of clinically relevant findings of diverse populations is fundamental improve this scenario.
Relative tooth size, Bayesian inference, andHomo naledi
Authors: Irish Joel D. , Grabowski Mark 
Published: July 2021

AbstractObjectivesSize‐corrected tooth crown measurements were used to estimate phenetic affinities amongHomo naledi(~335–236 ka) and 11 other Plio‐Pleistocene and recent species. To assess further their efficacy, and identify dental evolutionary trends, the data were then quantitatively coded for phylogenetic analyses. Results from both methods contribute additional characterization ofH. naledirelative to other hominins.Materials and MethodsAfter division by their geometric mean, scaled mesiodistal and buccolingual dimensions were used in tooth size apportionment analysis to compareH. nalediwithAustralopithecus africanus,A. afarensis,Paranthropus robustus,P. boisei,H. habilis,H. ergaster,H. erectus,H. heidelbergensis,H. neanderthalensis,H. sapiens, andPan troglodytes. These data produce equivalently scaled samples unaffected by interspecific size differences. The data were then gap‐weighted for Bayesian inference.ResultsCongruence in interspecific relationships is evident between methods, and with many inferred from earlier systematic studies. However, the present results placeH. naledias a sister taxon toH. habilis,based on a symplesiomorphic pattern of relative tooth size. In the preferred Bayesian phylogram,H. nalediis nested within a clade comprising allHomospecies, but it shares some characteristics with australopiths and, particularly, earlyHomo.DiscussionPhylogenetic analyses of relative tooth size yield information about evolutionary dental trends not previously reported inH. nalediand the other hominins. Moreover, with an appropriate model these data recovered plausible evolutionary relationships. Together, the findings support recent study suggestingH. naledioriginated long before the geological date of the Dinaledi Chamber, from which the specimens under study were recovered.
Discovery of Neuritogenic Securinega Alkaloids from Flueggea suffruticosa by a Building Blocks‐Based Molecular Network Strategy
Authors: He Qi‐Fang , Wu Zhen‐Long , Li Liuren , Sun Wan‐Yang , Wang Gui‐Yang , Jiang Ren‐Wang , Hu Li‐Jun , Shi Lei , He Rong‐Rong , Wang Ying , Ye Wen‐Cai 
Published: July 2021

AbstractA combined strategy of building blocks recognition and molecular network construction, termed the building blocks‐based molecular network (BBMN), was first presented to facilitate the efficient discovery of novel natural products. By mapping the BBMN of the total alkaloid fraction of Flueggea suffruticosa, three Securinega alkaloids (SEAs) with unusual chemical architectures, suffranidines A–C (1–3), were discovered and isolated. Compound 1 characterizes an unprecedented 8/5/6/5/6/6/6/6‐fused octacyclic scaffold with a unique cage‐shaped 3‐azatricyclo[6.4.0.03,11]dodecane core. Compounds 2 and 3 are highly modified SEA dimers that incorporate additional C6 motifs. A hypothetical biosynthetic pathway for 1–3 was proposed. In addition, 1 significantly induced neuronal differentiation and neurite extension by upregulating eukaryotic elongation factor 2 (eEF2)‐mediated protein synthesis.
Phosphorus and Arsenic Atom Transfer to Isocyanides to Form π‐Backbonding Cyanophosphide and Cyanoarsenide Titanium Complexes
Authors: Reinholdt Anders , Jafari Mehrafshan G. , Sandoval‐Pauker Christian , Ballestero‐Martínez Ernesto , Gau Michael R. , Driess Matthias , Pinter Balazs , Mindiola Daniel J. 
Published: July 2021

AbstractDecarbonylation along with E atom transfer from Na(OCE) (E=P, As) to an isocyanide coordinated to the tetrahedral TiIIcomplex [(TptBu,Me)TiCl], yielded the [(TptBu,Me)Ti(η3‐ECNAd)] species (Ad=1‐adamantyl, TptBu,Me−=hydrotris(3‐tert‐butyl‐5‐methylpyrazol‐1‐yl)borate). In the case of E=P, the cyanophosphide ligand displays nucleophilic reactivity toward Al(CH3)3; moreover, its bent geometry hints to a reduced Ad−NCP3−resonance contributor. The analogous and rarer mono‐substituted cyanoarsenide ligand, Ad−NCAs3−, shows the same unprecedented coordination mode but with shortening of the N=C bond. As opposed to TiII, VIIfails to promote P atom transfer to AdNC, yielding instead [(TptBu,Me)V(OCP)(CNAd)]. Theoretical studies revealed the rare ECNAd moieties to be stabilized by π‐backbonding interactions with the former TiIIion, and their assembly to most likely involve a concerted E atom transfer between Ti‐bound OCE−to AdNC ligands when studying the reaction coordinate for E=P.
Silver‐Catalyzed Asymmetric Dearomatization of Electron‐Deficient Heteroarenes via Interrupted Barton–Zard Reaction
Authors: Wan Qian , Xie Jia‐Hao , Zheng Chao , Yuan Yao‐Feng , You Shu‐Li 
Published: July 2021

AbstractHerein we report a catalytic asymmetric dearomatization reaction of electron‐deficient heteroarenes with α‐substituted isocyanoacetates through an interrupted Barton–Zard reaction. A range of optically active pyrrolo[3,4‐b]indole derivatives was obtained in good yields (up to 97 %) with high stereoselectivities (up to >20:1 dr and 97 % ee), using a catalytic system consisting of a cinchona‐derived amino‐phosphine and silver oxide. This reaction features wide substrate scope and mild conditions, and provides a new strategy for developing asymmetric dearomatization reactions.
Few‐Unit‐Cell MFI Zeolite Synthesized using a Simple Di‐quaternary Ammonium Structure‐Directing Agent
Authors: Lu Peng , Ghosh Supriya , Dorneles de Mello Matheus , Kamaluddin Huda Sharbini , Li Xinyu , Kumar Gaurav , Duan Xuekui , Abeykoon Milinda , Boscoboinik J. Anibal , Qi Liang , Dai Heng , Luo Tianyi , Al‐Thabaiti Shaeel , Narasimharao Katabathini , Khan Zaheer , Rimer Jeffrey D. , Bell Alexis T. , Dauenhauer Paul , Mkhoyan K. Andre , Tsapatsis Michael 
Published: July 2021

AbstractSynthesis of a pentasil‐type zeolite with ultra‐small few‐unit‐cell crystalline domains, which we call FDP (few‐unit‐cell crystalline domain pentasil), is reported. FDP is made using bis‐1,5(tributyl ammonium) pentamethylene cations as structure directing agent (SDA). This di‐quaternary ammonium SDA combines butyl ammonium, in place of the one commonly used for MFI synthesis, propyl ammonium, and a five‐carbon nitrogen‐connecting chain, in place of the six‐carbon connecting chain SDAs that are known to fit well within the MFI pores. X‐ray diffraction analysis and electron microscopy imaging of FDP indicate ca. 10 nm crystalline domains organized in hierarchical micro‐/meso‐porous aggregates exhibiting mesoscopic order with an aggregate particle size up to ca. 5 μm. Al and Sn can be incorporated into the FDP zeolite framework to produce active and selective methanol‐to‐hydrocarbon and glucose isomerization catalysts, respectively.
CuSO4 nanoparticles loaded on carboxymethylcellulose/polyaniline composites: A highly efficient catalyst with enhanced catalytic activity in the synthesis of propargylamines, benzofurans, and 1,2,3‐triazoles
Authors: Xu Zhian , Xu Jinxi , Li Yiqun 
Published: July 2021

AbstractA novel and efficient heterogeneous CuSO4 nanoparticles (CuSO4 NPs) immobilized on carboxymethylcellulose/polyaniline (CuSO4NPs@CMC/PANI) composites were prepared via one‐pot and one‐step interfacial oxidative polymerization of aniline with sodium carboxymethylcellulose (CMC) as soft template and CuSO4 as catalyst. The in situ formed CuSO4 NPs were dispersed uniformly and firmly on the resultant composites and stabilized by complexation with hydroxyl groups (─OH), carboxylate groups (─COO−), nitrogen atoms, and delocalized π‐π conjugate benzenoid and quinoid moieties of CMC/PANI composites. The morphology, composition, and structure of the as‐fabricated composites were systematically characterized by X‐ray photoelectron spectroscopy (XPS), transmission electron microscopy (TEM), scanning electron microscopy (SEM), energy‐dispersive X‐ray spectroscopy (EDS), Fourier transform infrared spectroscopy (FTIR), X‐ray diffraction (XRD), thermogravimetric analysis (TGA), and derivative thermogravimetry (DTG) techniques. The CuSO4NPs@CMC/PANI composites were successfully applied as catalysts in aldehyde‐alkyne‐amine (A3) coupling reactions, A3‐cycloisomerization tandem reactions, and Cu‐catalyzed azide‐alkyne cycloaddition (CuAAC) reactions. All reactions proceeded smoothly and afforded the desired products in excellent yields. Moreover, no significant decrease in catalytic ability was observed in A3 model reaction after 15 recycles, indicating CuSO4NPs@CMC/PANI composites exhibited easy separability and high reusability. Tolerance of wide scope of substrate, excellent catalytic activity, easy operation, recycling of catalyst, and environmental benign are the salient features of these catalytic process.
Pervaporation of dichloromethane‐cyclopentane and methylal‐cyclopentane mixtures through membranes from chloroprene rubber
Authors: Polena Jan , Hrdlička Zdeněk , Hovorka Štěpán , Švecová Marie , Parchaňská Alžběta , Durďáková Tereza‐Markéta , Vopička Ondřej 
Published: July 2021

AbstractChloroprene rubber (CR) has been commonly applied in various branches of the industry but its application in selective layers of pervaporation membranes remains overseen. To survey its applicability, we report on the pervaporation of two close‐boiling azeotrope‐forming systems of common solvents, blowing agents, adjuvants, and refrigerants, namely, dichloromethane‐cyclopentane (DCM‐CP) and methylal‐cyclopentane (ML‐CP). Vulcanizates having the form of thin films (66 ± 5 μm) have been prepared from the crystallization‐resistant (WRT) polychloroprene by using nanoparticles of ZnO and MgO. Mechanical and thermal properties have been characterized using dynamic mechanical analysis (DMA) and thermogravimetry analysis, spectral properties using ATR‐FTIR. Plasticization has been assessed by measuring DMA characteristics for the CR films exposed to vapors of the studied compounds. The CR films are preferentially permeable to DCM and ML over CP, break the respective azeotropes, and show comparable selectivity ranging from 1.1 to 1.7 for DCM‐CP and from 1.0 to 1.8 for ML‐CP. Importantly, plasticization of the CR membranes by DCM and ML enhances the selectivity and, simultaneously, the transmembrane flux. Overall, we show that membranes from CR enable selective and intensive pervaporative recovery of halogenated hydrocarbons from their mixtures with hydrocarbons, which is relevant, for instance, for the recycling of blowing agents.
Polydimethylsiloxane‐functionalized polyacrylonitrile nanofibrous aerogels for efficient oil absorption and oil/water separation
Authors: Ge Junyan , Jia Yuxin , Cheng Chuang , Sun Ke , Peng Yuying , Tu Yingfang , Qiang Yingying , Hua Zheyi , Zheng Zhong , Ye Xiangyu , Xue Lixin , Jiang Guojun 
Published: July 2021

AbstractThe effective removal of oils and organic solvents from water is of great importance for environmental protection. Three‐dimensional nanofibrous aerogels (NFAs) with superabsorbent properties promise a huge potential applicability in oil spills and chemical leaks. However, the production of such NFAs through a facile and economical method is still a great challenge. Here, a very simple solution immersion process is presented to fabricate polydimethylsiloxane‐functionalized polyacrylonitrile NFAs. The obtained NFAs exhibit a superior chemical stability, a high hydrophobicity and an excellent absorption capacity for various oils and organic solvents. More importantly, these NFAs show an outstanding reversible elasticity and could potentially be employed for continuously collecting oils and organic pollutants from water with the assistance of a pump. It is believed that the obtained absorbents could be promising candidate materials for oil and organic solvent spill cleanups under harsh conditions.
A closer look at the bycatch of medium‐sized and large sharks in the northern Catalan coast (north‐western Mediterranean Sea): Evidence of an ongoing decline?
Authors: Nuez Ignasi , Gazo Manel , Cardona Luis 
Published: July 2021

Abstract

Historically, the Mediterranean Sea supported a rich shark fauna. Presently, however, populations of most shark species have significantly declined, largely due to intense fishing pressure.
Interviews with crew members of bottom trawlers, drifting longliners and bottom longliners operating off the Costa Brava (Catalonia, NE Spain) were conducted between October 2016 and July 2017 in order to gather information on the current bycatch rate of several shark species.
Interviews covered 41.2% of the fleet and respondents were asked for the bycatch of selected shark species—Alopias vulpinus, Cetorhinus maximus, Galeorhinus galeus, Hexanchus griseus, Isurus oxyrinchus, Mustelus spp., Prionace glauca, and Squalus acanthias—in two distinct time periods.
Bottom trawlers captured the highest diversity of species (eight) followed by bottom longliners (seven), and drifting longliners (three). Most respondents (89.7%) declared having captured at least one shark from 2006 to 2016 but only 56.4% declared having captured at least one shark from 2016 to 2017.
From 2016 to 2017, the whole fleet captured 89 specimens of H. griseus (95% confidence interval (CI) = 145, 34), 14 of G. galeus (95% CI = 30, 0), 3 of A. vulpinus (95% CI = 8, 0), 3 of I. oxyrinchus (95% CI = 8, 0), 3 of C. maximus (95% CI = 6, 0), and no Mustelus spp. The total bycatch of P. glauca and S. acanthias was uncertain due to extremely loose confidence intervals.
A significant decline was perceived by fishermen in the bycatch of C. maximus and S. acanthias, whereas the bycatch of H. griseus was considered to have remained stable.
This study suggests a dramatic reduction in the abundance of most of the medium‐sized and large sharks of the Costa Brava and the likely disappearance of Mustelus spp. from the area. Only H. griseus, S. acanthias, and P. glauca are still being bycaught frequently.
Robust practical tracking control of an underactuated hovercraft
Authors: Yan Lixia , Ma Baoli , Xie Wenjing 
Published: July 2021

AbstractThis paper studies the robust practical tracking control problem of an underactuated hovercraft with unknown external disturbances. Controlling such a system is difficult and challenging due to inherent modeling properties such as underactuated nature and nonholonomic constraint. State transformation technique and cascade method, combined with a transverse function, are used to develop a novel control law that globally practically stabilizes the hovercraft to any smooth reference trajectory, either feasible or non‐feasible. The Lyapunov theory is applied to the analysis of overall closed‐loop stability. Simulation results illustrate the control design.
Neural iterative learning identifier‐based iterative learning controller for time‐varying nonlinear systems
Authors: Afsharnia Fateme , Madady Ali , Menhaj Mohammad Bagher 
Published: July 2021

AbstractIn this paper, two iterative learning control (ILC) approaches based on a neural iterative learning identifier (NILI) are proposed for a class of unknown time‐varying nonlinear systems. Since both control and identification processes are done at the common iteration domain, so both tracking performance and identification performance are improved at each iteration simultaneously. A class of neural networks is proposed as iterative learning identifier. The proposed NILI is time varying because the system is time varying. An auxiliary error function is used in new iterative updating laws of the proposed NILI. First, P‐type ILC with iteration‐varying learning gain based on the NILI is proposed and applied to the system. Then, a new ILC based on the NILI is proposed and applied to the system. In comparison with other ILC algorithms proposed for similar systems, the proposed algorithm in this paper has more accurate performance and takes less amount of time and memory. Also, the new proposed NILI‐based ILC can be successfully applied to the system with iteration‐varying initial condition. Theoretical analysis of the trajectory convergence both tracking and identification errors is fully done. Finally, the effectiveness of the proposed algorithms is verified through some simulation case studies.
Hampered PdO Redox Dynamics by Water Suppresses Lean Methane Oxidation over Realistic Palladium Catalysts
Authors: Velin Peter , Hemmingsson Felix , Schaefer Andreas , Skoglundh Magnus , Lomachenko Kirill A. , Raj Agnes , Thompsett David , Smedler Gudmund , Carlsson Per‐Anders 
Published: July 2021

AbstractBy use of operando spectroscopies under cycling reaction conditions, water is shown to hamper the redox dynamics of realistic palladium oxide nanoparticles dispersed onto alumina and hydrophobic zeolite supports thereby lowering the activity for total oxidation of methane. Water adsorption forms hydroxyl ad‐species that block the methane and oxygen dissociation and seem to prevent lattice oxygen to take part in the methane oxidation. The main catalytic action is thus proposed to shift from the Mars‐van Krevelen mechanism in dry conditions to a slower route that relies on Langmuir‐Hinshelwood type of steps in wet conditions. This key finding has clear implications on catalyst design for low‐temperature gas combustion emission control.
Stability of AgIII towards Halides in Organosilver(III) Complexes
Authors: Joven‐Sancho Daniel , Baya Miguel , Falvello Larry R. , Martín Antonio , Orduna Jesús , Menjón Babil 
Published: July 2021

AbstractThe involvement of silver in two‐electron AgI/AgIII processes is currently emerging. However, the range of stability of the required and uncommon AgIII species is virtually unknown. Here, the stability of AgIII towards the whole set of halide ligands in the organosilver(III) complex frame [(CF3)3AgX]− (X=F, Cl, Br, I, At) is theoretically analyzed. The results obtained depend on a single factor: the nature of X. Even the softest and least electronegative halides (I and At) are found to form reasonably stable AgIII−X bonds. Our estimates were confirmed by experiment. The whole series of nonradiative halide complexes [PPh4][(CF3)3AgX] (X=F, Cl, Br, I) has been experimentally prepared and all its constituents have been isolated in pure form. The pseudohalides [PPh4][(CF3)3AgCN] and [PPh4][(CF3)3Ag(N3)] have also been isolated, the latter being the first silver(III) azido complex. Except for the iodo compound, all the crystal and molecular structures have been established by single‐crystal X‐ray diffraction methods. The decomposition paths of the [(CF3)3AgX]− entities at the unimolecular level have been examined in the gas phase by multistage mass spectrometry (MSn). The experimental detection of the two series of mixed complexes [CF3AgX]− and [FAgX]− arising from the corresponding parent species [(CF3)3AgX]− demonstrate that the Ag−X bond is particularly robust. Our experimental observations are rationalized with the aid of theoretical methods. Smooth variation with the electronegativity of X is also observed in the thermolyses of bulk samples. The thermal stability in the solid state gradually decreases from X=F (145 °C, dec.) to X=I (78 °C, dec.) The experimentally established compatibility of AgIII with the heaviest halides is of particular relevance to silver‐mediated or silver‐catalyzed processes.