bluuebunny/crossref_metadata_2025_split huggingface dataset:
Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies
Authors: Kortbawi Hannah , Ames Elizabeth , Pritchard Amanda , Devine Patrick , van Ziffle Jessica , Slavotinek Anne 
Published: May 2022

AbstractCongenital nicotinamide adenine dinucleotide (NAD) deficiency disorders are associated with pathogenic variants in the genes NADSYN1, HAAO, and KYNU. These disorders overlap with the anomalies present in vertebral, anal, cardiac, tracheoesophageal, radial and renal, and limb anomalies (VATER/VACTERL) association and often result in premature death. Children who survive typically have developmental delays or intellectual disability. Here, we describe two patients with compound heterozygous variants in NADSYN1 who presented with cardiac and vertebral defects overlapping with the VATER/VACTERL association, although the patients did not satisfy criteria for the diagnosis of VATER/VACTERL due to their lack of limb anomalies and significant renal anomalies. One patient survived into childhood with developmental delays and may represent an expansion of the survival data for NADSYN1‐associated NAD deficiency disorders. Interestingly, one patient had hypoplastic left heart syndrome (HLHS) and one had an aortic coarctation and transverse hypoplasia of the aortic arch, suggesting that NADSYN1 sequencing should be performed in children presenting with congenital anomalies related to VATER/VACTERL association and with HLHS and aortic arch abnormalities.
MYH7 variants cause complex congenital heart disease
Authors: Ritter Alyssa , Leonard Jacqueline , Gray Christopher , Izumi Kosuke , Levinson Katharine , Nair Divya R. , O'Connor Matthew , Rossano Joseph , Shankar Venkat , Chowns Jessica , Marzolf Amy , Owens Anjali , Ahrens‐Nicklas Rebecca C. 
Published: May 2022

AbstractMYH7, encoding the myosin heavy chain sarcomeric β‐myosin heavy chain, is a common cause of both hypertrophic and dilated cardiomyopathy. Additionally, families with left ventricular noncompaction cardiomyopathy (LVNC) and congenital heart disease (CHD), typically septal defects or Ebstein anomaly, have been identified to have heterozygous pathogenic variants in MHY7. One previous case of single ventricle CHD with heart failure due to a MYH7 variant has been identified. Herein, we present a single center's experience of complex CHD due to MYH7 variants. Three probands with a history of CHD, LVNC, and/or arrhythmias were identified to have MYH7 variants through multigene panel testing or exome sequencing. These three patients collectively had 12 affected family members, four with a history of Ebstein anomaly and seven with a history of LVNC. These findings suggest a wider phenotypic spectrum in MYH7‐related CHD than previously understood. Further investigation into the possible role of MYH7 in CHD and mechanism of disease is necessary to fully delineate the phenotypic spectrum of MYH7‐related cardiac disease. MYH7 should be considered for families with multiple individuals with complex CHD in the setting of a family history of LVNC or arrhythmias.
Tunable Circularly Polarized Luminescence from Inorganic Chiral Photonic Crystals Doped with Quantum Dots
Authors: Yang Xuekang , Lv Jiawei , Zhang Jing , Shen Tianxi , Xing Tingyang , Qi Fenglian , Ma Shaohua , Gao Xiaoqing , Zhang Wei , Tang Zhiyong 
Published: May 2022

AbstractChiral semiconductor nanostructures have received enormous attention due to their emerging circularly polarized luminescence (CPL) properties. However, compared with well‐studied photoluminescence (PL), the reported CPL is much weaker and more challenging to be modulated. Herein, we describe a new approach for acquiring the intense and tunable CPL from inorganic chiral photonic crystals (CPCs) doped with semiconductor quantum dots (QDs). Unprecedentedly, the sign, position and intensity of CPL peaks can be precisely controlled by manipulating either the photonic band gap of CPCs or luminescence wavelength of QDs and a giant absolute dissymmetry factor |glum| up to 0.25 is obtained. More importantly, the origin of the CPL modulation is clearly elucidated by both experiment and theory. This work lays the foundation for the construction of next‐generation high‐performance CPL‐based devices.
Catalytic Regio‐ and Enantioselective Protonation for the Synthesis of Chiral Allenes: Synergistic Effect of the Counterion and Water
Authors: Lin Qianchi , Zheng Sujuan , Chen Long , Wu Jin , Li Jinzhao , Liu Peizhi , Dong Shunxi , Liu Xiaohua , Peng Qian , Feng Xiaoming 
Published: May 2022

AbstractA highly enantioselective tandem Pudovik addition/[1,2]‐phospha‐Brook rearrangement of α‐alkynylketoamides with diarylphosphine oxides was achieved with a N,N′‐dioxide/ScIII complex as the catalyst. This protocol features broad substrate scope, high regio‐ and enantioselectivity, and good functional‐group compatibility, providing a straightforward route to various trisubstituted allenes with a diarylphosphinate functionality in good yields with high enantioselectivities (up to 97 % yield, 96 % ee). Control experiments and theoretical calculations revealed that a synergistic effect of the counterion and water was critical for the regio‐ and enantioselective protonation after [1,2]‐phospha‐Brook rearrangement. The synthetic utility of this methodology was demonstrated by the conversion of products into complex bridged polycyclic architectures through intramolecular dearomatizing arene/allene cycloaddition.
A Silylene‐Stabilized Germanium Analogue of Alkynylaluminum
Authors: Chen Ming , Lei Binglin , Wang Xuyang , Rong Hua , Song Haibin , Mo Zhenbo 
Published: May 2022

AbstractIn contrast to the well‐developed metal acetylides, the heavier analogues of the type REEM (E=Si, Ge, Sn, Pb; M=metals) have not been reported to date. Herein, we describe the synthesis of a silylene‐stabilized germanium analogue of alkynylaluminum (4) by the reaction of a silylene‐stabilized digermavinylidene (3) with 0.25 equiv of (AlCp*)4in THF at 80 °C. The structure of4has been unambiguously characterized by spectroscopic analysis, X‐ray diffraction analyses and DFT calculations, and features a linear AlGeGe skeleton with a Ge=Ge double bond and a polarized Ge−Al bond. Complex4shows excellent reactivity towards small molecules such as H2, CS2and TolNCO, and this allows for the construction of the structurally intriguing germylenyl aluminum complex (5) and the germacycles (6,7).
One‐Step C2H4Purification from Ternary C2H6/C2H4/C2H2Mixtures by a Robust Metal–Organic Framework with Customized Pore Environment
Authors: Wang Gang‐Ding , Li Yong‐Zhi , Shi Wen‐Juan , Hou Lei , Wang Yao‐Yu , Zhu Zhonghua 
Published: May 2022

AbstractOne‐step C2H4purification from ternary C2H6/C2H4/C2H2mixtures by a single adsorbent is of great industrial significance, but few adsorbents achieve this separation. Herein, we report a robust metal–organic framework (MOF) that possesses methyl‐decorated nonpolar pores and shows one‐step C2H4purification (purity >99.9 %) from binary C2H6/C2H4mixtures and ternary C2H6/C2H4/C2H2mixtures. The methyl groups in pores provide a suitable pore environment to simultaneously enhance the adsorption capacity for C2H2and C2H6compared to C2H4. Simulations revealed the multiple interactions between C2H6or C2H2molecules and the pore wall, while the interactions with C2H4molecules are weak and also unfavorable due to the repulsion from methyl groups in pores. The MOF displays high C2H6and C2H2uptakes and benchmark C2H6/C2H4selectivity (2.2), surpassing all of the reported MOFs for one‐step C2H4purification from ternary C2H6/C2H4/C2H2mixtures.
Cobalt(III)/Chiral Carboxylic Acid‐Catalyzed Enantioselective Synthesis of Benzothiadiazine‐1‐oxides via C−H Activation
Authors: Hirata Yuki , Sekine Daichi , Kato Yoshimi , Lin Luqing , Kojima Masahiro , Yoshino Tatsuhiko , Matsunaga Shigeki 
Published: May 2022

AbstractAmong sulfoximine derivatives containing a chiral sulfur center, benzothiadiazine‐1‐oxides are important for applications in medicinal chemistry. Here, we report that the combination of an achiral cobalt(III) catalyst and a pseudo‐C2‐symmetric H8‐binaphthyl chiral carboxylic acid enables the asymmetric synthesis of benzothiadiazine‐1‐oxides from sulfoximines and dioxazolones via enantioselective C−H bond cleavage. With the optimized protocol, benzothiadiazine‐1‐oxides with several functional groups can be accessed with high enantioselectivity.
Free Metallophosphines: Extremely Electron‐Rich Phosphorus Superbases That Are Electronically and Sterically Tunable**
Authors: Wei Rui , Ju Shaoying , Liu Liu Leo 
Published: May 2022

AbstractWe report herein a facile and highly modular access to an intriguing class of free Au‐substituted phosphines (AuPhos), namely (LAu)nPR3−n (L=singlet carbene ligand; R=H, aryl, alkyl, silyl) (n=1–3). The Tolman electronic parameter (TEP) values coupled with theoretical investigations showcase that Au‐substitution can boost the electron‐releasing ability of AuPhos, thus leading to an electronically and sterically tunable, extremely electron‐rich phosphorus center. The high basicity of AuPhos is attributed to the d‐p lone pair π‐repulsion arising from interaction between Au substituents and the lone pair at P. A series of multi‐nuclear transition metal complexes (i.e. Rh, Ir, Pd, Au, W, Mn) ligated by AuPhos are readily prepared via a straightforward process. Preliminary catalytic results reveal the facilitation of Pd‐catalyzed C−N coupling reactions and Ir‐catalyzed decarbonylation reactions via AuPhos. This work provides insights for future development of electron‐rich ligands.
Utilization of dairy beta stream to produce phospholipids products by salt precipitation and solvent fractionation
Authors: Wan Zifan , Fei Tao , Clark Stephanie , Wang Tong 
Published: May 2022

AbstractDairy phospholipids (PLs) have unique functional and nutraceutical properties over PLs obtained from other sources that typically lack phosphatidylserine (PS) and sphingomyelin (SM). In this study, an underutilized dairy by‐product, beta stream, was used for the production of enriched dairy PLs products and membrane proteins by solvent extractions. After calcium salt precipitation of the membrane components, various green (i.e., safer or bioderived) solvent systems were evaluated for their capabilities for PLs extraction from the PLs‐protein‐salt precipitate in comparison to the standard Folch extraction (chloroform: methanol, 2:1, v/v). Among the five solvent systems (Folch alternatives) evaluated, the combination of hexane and isopropanol (H:IP, 3:2, v/v) was identified as the best for total lipid and PLs extraction, resulting in a recovery of 74.4% and 65.7% (w/w), respectively. EDTA chelating of the calcium ions was applied to produce a salt‐free membrane protein product. A treatment with 0.2% EDTA was able to significantly reduce the calcium content to 0.20 mg/g protein compared to 58.81 mg/g in the initial calcium‐precipitated MFGM. EDTA chelating of cations also facilitated the extraction of lipids during H:IP (3:2) treatment, which increased the total recovery of total lipid and PLs to 90.7% and 82.5% (w/w), respectively. Overall, this study demonstrates a great potential for the utilization of beta stream and other low‐solids content aqueous dairy by‐products for PLs recovery and further fractionation. Value‐added dairy products (PLs and membrane proteins) can be obtained using green solvents identified in this study, and the process is industrially scalable.
Influence of the melting point on the deblocking reaction of methyl ethyl ketoxime‐blocked aromatic polyisocyanates
Authors: Li Xiaoxuan , Zhai Linming , Meng Xun , Wu Shengli 
Published: May 2022

AbstractBlocked polyisocyanates are used in single component (1 K) water‐based and powder coatings to simplify coating synthesis and reduce waste. However, the relationship between the melting point and deblocking behavior of blocked polyisocyanates is not clear. We aim to determine the influence of the melting temperature on the deblocking of methyl ethyl ketoxime (MEKO)‐blocked aromatic polyisocyanates. A toluene‐2,4‐diisocyanate trimer grafted with different mass ratios of methoxypolyethylene glycol (MPEG) is used to achieve compounds with different melting points and is blocked with MEKO. The deblocking behaviors of the polymers are investigated using Fourier transform infrared spectroscopy, differential scanning calorimetry, scanning electron microscopy, and thermogravimetric analysis. The results show that the deblocking temperature and average activation energy of the blocked polyisocyanates decrease with increase in melting point. Further, MEKO is more likely to be lost from blocked polyisocyanates having lower melting points. Furthermore, polyacrylic resins cured with blocked polyisocyanates having low melting points exhibit better properties than those having high melting points. The results reveal that the reduction in melting point induced by grafting with MPEG can significantly reduce the deblocking temperature of blocked polyisocyanates. The improvements in these properties may help achieve the low‐temperature crosslinking of blocked polyisocyanates for coating technologies.
Digital divide, critical‐, and crisis‐informatics perspectives on K‐12 emergency remote teaching during the pandemic
Authors: Reynolds Rebecca , Aromi Julie , McGowan Catherine , Paris Britt 
Published: May 2022

AbstractThe rapid deployment of emergency remote teaching in the pandemic presents sweeping societal‐level information systems phenomena worthy of scholarly inquiry. This paper reports findings from teacher interviews conducted with K‐12 public school teachers, exploring how digital access and use gaps in communities reflect wider digital and social inequalities as schools fulfilled emergency remote teaching mandates, becoming swept up into e‐learning technology expansion trends propelled by mandates, and unfettered corporate edtech. Results show persistence of home and school level digital affordance gaps as hindrances to pandemic pedagogy. We build upon theory of the digital divide, and crisis and critical informatics literature considering how critical approaches to the study of socio‐technical systems research can inform these understandings, providing insights into how localized digital inequities contribute to broader digital inequality and social inequality, in the educative processes expected of public education in democratic societies. Our work gives voice to one highly pressured and conflicted stakeholder in these dynamics—K‐12 public school teachers—and demonstrates some of the ways in which digital inequity gaps may play a further magnifying role of societal division through expanding edtech deployment in K‐12 grades, if current edtech trends hold.
Electrocatalytic HER Enhancement of C3N4 in NiCo2O4
Authors: Zhang Chao , Wang Jinming , Liu Ying , Li Weiping , Wang Yilin , Qin Guohui , Lv Zhiguo 
Published: May 2022

AbstractGenerally, C3N4 was widely used in the field of photocatalytic hydrogen production, but only few studies focused on electrocatalytic hydrogen production field in Ni/Co based systems. Herein, to investigate the enhanced HER property of C3N4, NiCo2O4@C3N4 were fabricated successfully via a simple mixture method. With the introduction of C3N4, NiCo2O4@C3N4 showed better HER property with small overpotential (89 mV, η10 mA cm−2), low Tafel slope (146 mV dec−1) and superior long‐term stability, thereby indicating the excellent synergistic effect between NiCo2O4 and C3N4. Besides, compared with NiCo2O4, the large electrochemically active surface areas of NiCo2O4@C3N4 (ca. 126 cm2) indicated the abundant active sites, directly proofing the HER enhancement of C3N4. According to Density Functional Theory (DFT) calculation results, when NiCo2O4 combined with C3N4, the EH2O* of NiCo2O4@C3N4 decreased from 3.80 to 2.76 eV and, accordingly, the heterostructure possessed an appropriate ΔGH* (0.19 eV, close to Pt), suggesting the unique synergistic effect between NiCo2O4 and C3N4. Meanwhile, H2O interacted with the d orbital of the Co atom and induced more electrons to transfer from NiCo2O4 to C3N4 and H2O sequentially, thereby accumulating plenty of electrons on H2O molecule and further activating H2O molecule. Accordingly, the H−O−H bond angle of H2O was narrowed from 104.3° to 103.2°, meanwhile, the O−H bond length was extended from 0.975 to 0.989 Å, demonstrating the HER enhancement of C3N4.
A hybrid fault prediction method for control systems based on extended state observer and hidden Markov model
Authors: Yang Dezhen , Hai Xingshuo , Ren Yi , Cui Jingjing , Li Kanjing , Zeng Shengkui 
Published: May 2022

AbstractFault diagnosis and prediction for complex control systems rely either on the collection of rich data for training neural networks or on the system models and prior knowledge of faults. These methods are difficult to apply directly in complex integrated systems due to the large uncertainties in practical scenarios. A new fault diagnosis and prediction technique that is based on extended state observer (ESO) and a hidden Markov model (HMM) for control systems is proposed in this paper. Real‐time and predictive information that is obtained by ESO of the active disturbance rejection control (ADRC) is utilized to improve the HMM method for the fault prediction of control systems with large uncertain disturbances. The proposed approach realizes a high recognition rate with a small demand for data, and the dependence on the system model is weak without prior knowledge of faults. Fault prediction of the control system output can be realized without additional sensors. The proposed solution is evaluated in simulations of an asynchronous servo motor control system against the traditional control method and the ADRC control. The results indicate that the proposed method performs well in fault prediction and outperforms the traditional method in terms of control when disturbances and failures occur.
Adaptive Gaussian filters for nonlinear state estimation with one‐step randomly delayed measurements
Authors: Poluri Sri Mannarayana , Dey Aritro 
Published: May 2022

AbstractThis paper proposes new algorithms of adaptive Gaussian filters for nonlinear state estimation with maximum one‐step randomly delayed measurements. The unknown random delay is modeled as a Bernoulli random variable with the latency probability known a priori. However, a contingent situation has been considered in this work when the measurement noise statistics remain partially unknown. Due to unavailability of the complete knowledge of measurement noise statistics, the unknown measurement noise covariance matrix is estimated along with states following: (i) variational Bayesian approach, (ii) maximum likelihood estimation. The adaptation algorithms are mathematically derived following both of the above approaches. Subsequently, a general framework for adaptive Gaussian filter is presented with which variants of adaptive nonlinear filters can be formulated using different rules of numerical approximation for Gaussian integrals. This paper presents a few of such filters, viz., adaptive cubature Kalman filter, adaptive cubature quadrature Kalman filter with their higher degree variants, adaptive unscented Kalman filter, and adaptive Gauss–Hermite filter, and demonstrates the comparative performance analysis with the help of a nontrivial Bearing only tracking problem in simulation. Additionally, the paper carries out relative performance comparison between maximum likelihood estimation and variational Bayesian approaches for adaptation using Monte Carlo simulation. The proposed algorithms are also validated with the help of an off‐line harmonics estimation problem with real data.
Hybrid‐triggered scheme asynchronous control for hidden Markov jump systems with partially unknown probabilities and cyber attacks
Authors: Guo Yaxiao , Li Junmin 
Published: May 2022

AbstractThis paper is concerned with the issue of hybrid‐triggered scheme
asynchronous control for networked Markov jump systems (MJSs) with probabilistic cyber attacks. First, in view of the subsistent phenomenon that the controller cannot capture the system modes synchronously, the hidden Markov model (HMM) with partly unknown probabilities is introduced in this article to describe such asynchronous phenomenon. In addition, the hybrid‐triggered scheme includes time‐triggered scheme and event‐triggered scheme, in which the switching signal between two schemes obeys random Bernoulli distribution. By utilizing Lyapunov stability theory and matrix inequality technique, some sufficient conditions are developed, which can guarantee the networked MJSs mean‐square asymptotically stable (MSAS) and
performance; also, the desired controller gains are obtained by singular value decomposition (SVD) methods. Moreover, as the special cases of the results above, three corollaries are given. Finally, a numerical example and a pulse width‐modulation‐driven boost converter (PWMDBC) model are provided to demonstrate the usefulness and reliability of our developed approaches.
Gray matter volume alteration is associated with insistence on sameness and cognitive flexibility in autistic youth
Authors: Seng Guan‐Jye , Lai Meng‐Chuan , Goh Joshua Oon Soo , Tseng Wen‐Yih Issac , Gau Susan Shur‐Fen 
Published: May 2022

AbstractRestricted and repetitive behaviors (RRBs) are hallmark characteristics of autism spectrum disorder (ASD). Previous studies suggest that insistence on sameness (IS) characterized as higher‐order RRBs may be a promising subgrouping variable for ASD. Cognitive inflexibility may underpin IS behaviors. However, the neuroanatomical correlates of IS and associated cognitive functions remain unclear. We analyzed data from 140 autistic youth and 124 typically developing (TD) youth (mean age = 15.8 years). Autistic youth were stratified by median‐split based on three current IS items in the autism diagnostic interview‐revised into two groups (high, HIS, n = 70, and low, LIS, n = 70). Differences in cognitive flexibility were assessed by the Cambridge neuropsychological test automated battery (CANTAB). T1‐weighted brain structural images were analyzed using voxel‐based morphometry (VBM) to identify differences in gray matter (GM) volume among the three groups. GM volume of regions showing group differences was then correlated with cognitive flexibility. The HIS group showed decreased GM volumes in the left supramarginal gyrus compared to the LIS group and increased GM volumes in the vermis VIII and left cerebellar lobule VIII compared to TD individuals. We did not find significant correlations between regional GM volumes and extra‐dimensional shift errors. IS may be a unique RRB component and a potentially valuable stratifier of ASD. However, the neurocognitive underpinnings require further clarification.Lay SummaryThe present study found parietal, temporal and cerebellar gray matter volume alterations in autistic youth with greater insistence on sameness. The findings suggest that insistence on sameness may be a useful feature to parse the heterogeneity of the autism spectrum yet further research investigating the underlying neurocognitive mechanism is warranted.