bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion
Authors: Ullah Asmat , Shah Abid Ali , Alluqmani Majed , Haider Nighat , Aman Hasan , Alfadhli Fatima , Almatrafi Ahmad M. , Albalawi Alia M. , Krishin Jai , Ullah Khan Fati , Anjam Bilal Ali , Abdullah  , Lozano Elionora Peña , Samad Abdus , Ahmad Wasim , Hansen Torben , Xia Kun , Basit Sulman 
Published: October 2022

AbstractNeurodevelopmental disorders (NDDs) are heterogeneous genetic conditions of the central nervous system (CNS). Primary phenotypes of NDDs include epilepsy, loss of developmental skills, abnormal movements, muscle weakness, ocular anomalies, hearing problems, and macro‐ or microcephaly. NDDs occur due to variants in genes encoding proteins involved in the structure and function of CNS, thus interrupting its normal physiological role. In the study presented here, four consanguineous families (A–D), with members showing neurodevelopmental symptoms, were recruited for clinical and genetic characterization of the phenotypes. Clinical examinations, including Seguin Form Board Test (SFBT), Vineland Social Maturity Scale (VSMS), brain Magnetic Resonance Imaging (MRI), Electroencephalogram (EEG), Electromyography (EMG), Nerve Conduction Velocity (NCV), and Magnetic Resonance Spectroscopy, were employed to characterize the disease phenotypes. Whole exome sequencing (WES) followed by Sanger sequencing was employed to search for the genetic basis of the neurological symptoms observed in four families (A–D). Two of these families (A, B) were of Saudi Arabian origin, and two others (C, D) were of Pakistan origin. Two homozygous missense (KPTN: NM_007059.4:c.301T>G: NP_008990.2; p.(Phe101Val) and MINPP1:NM_001178118.2:c.1202G>A: NP_001171588.1; p.(Arg401Gln)) variants in families A and B, respectively, and two homozygous nonsense (NGLY1:NM_018297.3:c.1534_1541dup: NP_060767.2; p.(Ser515LysfsTer51) and AP4B1:NM_001253852:c.1668G>A: NP_001240781.1; p.(Trp556X)) variants in families C and D, respectively, were identified. Interestingly, additional heterozygous nonsense variant in SON: NM_138927.2: c.5753_5756del: NP_620305.3; p.(Val1918GlufsTer87) and a homozygous variant in FLG (FLG: NM_002016.2:c.7339C>T: NP_002007.1; p.(Arg2447X) were detected in families A and D, respectively. Further, we determined the deleteriousness of each variant through computational approaches. The present study expands the phenotypic and genetic spectrum of NDD‐associated genes (KPTN, MINPP1, NGLY1, and AP4B1). Moreover, additional nonsense variants (SON: c.5753_5756del and FLG: c.7339C>T) identified in two families segregating with the phenotype might explain the phenotypic variability and severity in our patients.
Biological features of the pecten oculi of the European wild quail (Coturnix coturnix): Adaptative habits to Northern Egyptian coast with novel vision to its SEM–EDX analysis
Authors: Abumandour Mohamed M. A. , Morsy Kareem , Hanafy Basma G. 
Published: October 2022

AbstractThe present investigation was prepared to give a complete ultrastructural characterization of the pecten oculi of the diurnal European wild Quail to describe their adaptation habits to the Northern Egyptian coast. Our work declares the first endeavor is the elemental analysis using scanning electron microscopy‐energy dispersive X‐ray (SEM–EDX) to show the migration effect on their eye. The intra‐ocular quadrilateral trapezoid black pigmented plicated type pecten oculi were observed on the postero‐inferior wall of the eyeball with craniocaudal and posterio‐anterior directions along the fetal fissure. The pecten oculi consist of three parts: the basal, body, and apical. The basal part originated behind the optic nerve, forming the slightly elevated border, while the apical part was directed toward the ciliary body. There are 10–11 pleats with interpleat space. The coiled surface refers to numerous capillary vessels. The smooth head of each pleat was kidney‐like, strongly attached to a bridge. The vitreopecteneal limiting membrane separated the pecten oculi from the vitreous body. There are numerous melanosomes and little hyalocytes on the pecteneal pleat's outer surfaces. The thick basal part of each pleat had numerous thick longitudinal microfolds that refer to the numerous blood capillaries attached to the retina as supporting roots. SEM/EDX elemental analysis revealed that carbon is the highest element (half), while oxygen represents about one‐third. In the meantime, the lowest element is the phosphate at the apical part, while the lowest element in the rest is the sulfate. Finally, the pecten oculi are thought to be a reflection of the avian lifestyle and ecological adaptations.Highlights
Our work is the first description of the elemental analysis using SEM–EDX to show the migration effect on their eye.
The quadrilateral trapezoid black pigmented plicated type pecten oculi were observed on the postero‐inferior wall of the eyeball with cranio‐caudal and posterio‐anterior directions along the fetal fissure. The basal part of the pecten oculi originated behind the optic nerve, forming the slightly elevated border, while the apical part was directed toward the ciliary body. There are 10–11 pleats with interpleat space.
The vitreopecteneal limiting membrane separated the pecten oculi from the vitreous body. There are numerous melanosomes and little hyalocytes on the pecteneal pleat's outer surfaces.
SEM/EDX elemental analysis revealed that carbon is the highest element (half percent), while oxygen represents about one‐third of the element's percent meanwhile, the lowest element is phosphate at the apical part, while the lowest element in the rest is the sulfate.
Experience in application and adaptation of the land degradation neutrality concept in the Russian Federation
Authors: Kust German , Andreeva Olga , Lobkovskiy Vasiliy , Annagylyjova Jamal 
Published: October 2022

AbstractThe paper provides an overview of the—evolving methodology for the land degradation neutrality (LDN) assessment based on studies at national, regional, and local levels in Russia. A review of more than one hundred publications in Russian language over the past 6–7 years allowed for analysis of the following areas: LDN terminology, LDN assessment at different levels, adapting a transition matrix; using the LDN concept for economic valuation of land, estimating LDN baseline, and using LDN as an integral indicator for sustainable land management. With the LDN concept, a global approach to monitoring land degradation has become applicable beyond the limited geographic scope of the drylands. The paper observes how the LDN concept has been broadened with the introduction of the LDN Index proposed to evaluate the rate of LDN achievement; a proposal on reconstructing transition matrices and adding land cover sub‐categories; approach of integrating traditional national sectoral systems for assessing land quality with an LDN add‐on. The broader relevance of the paper includes the justification that it provides for using the LDN concept by policy‐makers at national and subnational levels, in particular in Russian‐speaking countries. It includes the application of additional indicators to capture soil erosion, salinity, soil depletion, aridity, etc., and using different site‐specific LDN baselines, not only those time‐based but also factoring natural background trends like climate change, natural succession cycles linked with geological and geomorphological processes. Approaches for LDN‐based economic valuation of lands and typology of sustainable land management practices and models were also fruitful.
Soil hydrologic properties in permanent raised beds—A field study experiment on wheat–maize cropping systems
Authors: Lin Han , He Jin , Li Hongwen , Wang Qingjie , Lu Caiyun , Yang Wenchao , Wang Quanyu , Yang Hanyu 
Published: October 2022

AbstractPermanent raised beds (PRB) are widely applied in agriculture around the World and have proven to be an excellent option for crops (wheat, maize, etc.). In particular, they have the potential to conserve soil and water resources in agricultural production globally. Many researchers are studying the effects of PRB on soil chemical properties (N, P, K, and SOC), plant growth characteristics, and water use efficiency in different regions. However, few experiments have investigated the soil's hydraulic performance. In this study, a 6‐year field experiment was conducted under a maize–wheat rotation cropping system in North China Plain (NCP). The effects on the soil's hydraulic properties of no‐tillage (NT) and traditional tillage (TT) on flat fields and no‐till PRB treatments were assessed. Specifically, nine soil samples were collected at 0–15 cm depth and 15–30 cm depth to assess the soil's hydraulic performance. The results showed that the total porosity under PRB (42.1%, 15–30 cm) was significantly improved by 13.5% compared to TT (37.1%, 15–30 cm). The soil organic carbon under PRB (8.65%, 15–30 cm) was increased by 13.82% compared to TT (7.6%, 15–30 cm). Changes in the slope (b) of the soil water retention characteristic curve under the PRB (7.2, 15–30 cm) treatment were indicative of an improvement in the pore size distribution, increased soil water retention, and greater infiltration rates. In addition, positive changes in lateral water infiltration from furrow irrigation were observed under PRB (over 25 mm min‐1 in 45 min). These improved soil physical parameters demonstrated that PRB can offer more possibilities for water conservation in the field. In addition, the application of PRB and the principles of conservation agriculture have potential for the effective of water use efficiency and for improving the quality of soil.
Changes in soil microbial metabolic activity following long‐term forest succession on the central Loess Plateau, China
Authors: Liu Yulin , Song Xinzhang , Wang Kaibo , He Zhirui , Pan Yingjie , Li Jiwei , Hai Xuying , Dong Lingbo , Shangguan Zhouping , Deng Lei 
Published: October 2022

AbstractForest succession can alter terrestrial ecosystem processes and potentially impact subsurface carbon dynamics. However, the effects of long‐term forest succession on soil microbial metabolic activity remain unclear. This study investigated a long‐term forest succession approximately ~160 years after farmland abandonment on the central Loess Plateau, China, to explore the changes in soil microbial metabolism following the forest succession. Among them, the soil basal respiration (BR), microbial quotient (qMB), and metabolic quotient (qCO2) were studied. The results showed that the BR and qCO2 were increased following forest succession, whereas the qMB showed the opposite trend. Forest succession also increased the activities of β‐1,4‐glucosidase (BG) and β‐D‐cellobiosidase (CBH). The increase of BR and qCO2 and the decrease of qMB occurred in the early stage (<60 years). However, the increase of BG and CBH mainly occurred in the later period (>100 years). Soil microbial metabolic activity was closely related to litter biomass, dissolved organic carbon, fungal, and bacterial community composition. In conclusion, long‐term forest succession changes soil microbial community structure and promotes soil organic carbon accumulation, while the increase of soil respiration and metabolism promotes the release of carbon element following forest succession, thus reducing soil microbial carbon utilization efficiency.
Peanut/sorghum intercropping drives specific variation in peanut rhizosphere soil properties and microbiomes under salt stress
Authors: Shi Xiaolong , Zhou Yufei , Guo Pei , Ren Jingyao , Zhang He , Dong Qiqi , Jiang Chunji , Zhong Chao , Zhang Zheng , Wan Shubo , Zhao Xinhua , Yu Haiqiu 
Published: October 2022

AbstractIntercropping can promote positive plant–soil interactions resulting in improved nutrient availability and ecological fitness, with microbes playing a key role. However, the specific effects of peanut/sorghum intercropping on soil properties and microbial community remain unclear, especially under salt stress conditions. In this study, sole‐cropped peanut (SP) and intercropped peanut (IP) with sorghum in a field planting box experiment were performed under normal (N) and salt‐stress (S, 0.25% NaCl) conditions, aims to investigate the specific response of peanut rhizosphere soil properties and microbial community to salt stress. The results showed that soil salinity negatively affects soil nutrient availability and enzymatic activities. To a certain extent, S‐IP has a definite effect on the improvement of soil properties, and ammonium nitrogen (NH4+‐N) increased 5.45%, total phosphorus (TP) increased 8.01%, soil organic carbon (SOC) increased 4.02%, soil peroxidase (POD) increased 8.15%, soil nitrate reductase (NR) increased 17.07%, and soil fructose‐1,6‐biphosphate aldolase enzyme (FDA) increased 16.26% compared with S‐SP. Alterations of soil properties affect the microbial community structure and predicted function. Microbial community analysis revealed that the relative abundance of Massilia (5.79‐times), Conocybe (47.43‐times), Funneliformis (1.59‐times), and Talaromyces (14.49‐times) were significantly increased in S‐IP compared to S‐SP. Furthermore, the proportions of microbe associated with the saprotrophs were increased and pathogens were reduced in S‐IP than in S‐SP. Thus, peanut/sorghum intercropping under salt stress affects the potential functions of a microbial community by changing the soil properties and remodeling the microbial community, which had potential effects on improving the environmental adaptability and yield of peanuts.
Drug‐induced sleep endoscopy effect on intraoperative decision making in pediatric sleep surgery: A 2‐year follow up
Authors: Frederick Robert M. , Brandt Josiah , Sheyn Anthony 
Published: October 2022

AbstractObjectiveTo further demonstrate sleep endoscopy's utility in improving surgical outcomes for pediatric OSA.MethodsThis is a retrospective review of surgically naïve patients <18 years old with diagnosed moderate–severe OSA who underwent DISE at the time of initial sleep surgery. Patients included in final analysis had both preoperative and postoperative polysomnograms. Surgical success was defined as an oAHI decrease by at least one diagnostic category. Residual OSA was defined as any patient with postoperative oAHI >1.ResultsA total of 106 patients had preoperative and postoperative polysomnograms. Patients with comorbidities comprised 53.8% of the group. Average BMI% was 88.2, with 75.5% classified as obese. The most common area of collapse was the base of tongue, occurring in 32.1% of patients. There was a statistically significant decrease from the mean preoperative oAHI of 29.7 to the mean postoperative oAHI of 6.6 (p < 0.001). Surgical success occurred in 76.4% of patients. A postoperative oAHI of <5 was achieved in 57.7% of patients with moderate or severe OSA. The average BMI% of patients who met surgical success was 86.4, while the average BMI% of patients who did not was 90.8. A postoperative oAHI of <5 was achieved in 68.4% of patients with a BMI% < 85, compared with 55.2% of patients with a BMI% ≥ 85.ConclusionThis study supports the utilization of DISE during initial surgery for severe sleep apnea in the pediatric population. It was found to effectively aid in significantly reducing surgically naïve patients' mean oAHI.Level of EvidenceLevel III.
Magnifying Lens with Ultrabroadband Super‐Resolution Real Imaging
Authors: Zhou Yangyang , Li Jue , Chen Huanyang 
Published: October 2022

AbstractIn recent years, novel magnifying lenses have generated much attention, not only because of their intriguing physics but also for their ability to achieve real‐time super‐resolution imaging. However, these super‐resolution magnifying lenses have been limited to virtual imaging and narrow band hindering the practical applications of magnifying lens. Here, a method is proposed to design a real‐imaging magnifying lens with ultrabroadband super‐resolution real‐time imaging capability based on conformal transformation optics. As a proof of concept, a two dimensional (2D) magnifying lens is designed, and its ability of ultrabroadband real imaging (working bandwidth of 104% of central frequency) with sub‐diffraction resolution in the microwave region is experimentally verified. It is found that the designed 2D magnifying lens has good robustness of fabrication errors, which provides more flexibility for practical applications. Furthermore, a three dimensional (3D) magnifying lens is designed by rotating the 2D magnifying lens along its symmetric axis. The 3D magnifying lens also maintains excellent imaging performance consistent with the one of 2D magnifying lens. Both 2D and 3D magnifying lenses can be integrated into conventional microscopes, expanding their capabilities for color super‐resolution magnified real imaging and opening a new realm in ultrabroadband super‐resolution real imaging.
Strong and Omnidirectional Light Absorption from Ultraviolet to Near‐Infrared Using GST Metasurface
Authors: Li Chensheng , Pan Ruhao , Geng Guangzhou , Zheng Ruixuan , Gu Changzhi , Guo Haiming , Li Junjie 
Published: October 2022

AbstractFor the perfect light absorber, it has been a huge challenge to simultaneously realize ultra‐broadband and strong absorption of unpolarized light over a large angular range, though various materials and designs have been tried. The emergence of optical metasurface with powerful light field regulation ability provides a promising new strategy for achieving perfect absorbers. Here, a Ge2Sb2Te5 (GST)‐based metasurface with an average 92.5%/94.7% (experiment/simulation) absorptivity of unpolarized light, covering an ultra‐broadband from ultraviolet to near‐infrared region is designed and demonstrated. This GST‐based metasurface consists of double‐layer GST interspaced by SiO2 layer, and both field localizations in the top patterned GST layer and intrinsic loss of the bottom patternless GST layer together contribute to this broadband absorption over wide incident angles up to 70°. Strong absorbing ability, large angular responses, and feasibly scalable fabrication for such a perfect GST‐based metasurface absorber offer more promising application opportunities in integrated optoelectronic devices.
Enjoyment or autonomy? The interactive effect of brand ritual and brand personality on consumer purchase
Authors: Ran Yaxuan , Wan Echo Wen 
Published: October 2022

AbstractThe use of brand rituals is a pervasive tactic in business, but the marketing effectiveness of this practice largely remains unknown. In the present research, we postulate the contingent nature of brand rituals on consumer purchase. Based on the two countervailing processes—the enhancement of perceived enjoyment and the reduction of perceived autonomy, we suggest that the effectiveness of brand rituals is determined by the interaction between the degree of brand ritual (simple vs. sophisticated) and the brand personality (excitement vs. sincerity). By means of field and laboratory experiments in various product categories (i.e., fruit tea, juice, stationery, and hand cream), we show that for a sincere brand, a sophisticated brand ritual elicits higher consumer purchase than a simple brand ritual only via the process of enhanced enjoyment because its sincerity personality weakens the salience of the process of reduced autonomy. In contrast, for an exciting brand, a sophisticated brand ritual elicits lower consumer purchase than a simple brand ritual via the process of enhanced enjoyment but reduced autonomy (the autonomy route dominates the enjoyment route) because its exciting personality intensifies the salience of the process of reduced autonomy. In simple words, a sophisticated brand ritual benefits a sincere brand, but a simple one benefits an exciting brand. Our findings extend the research on ritual and brand ritual and offer implications for marketing practice regarding how to design a brand ritual more effectively.
The peer contagion effects and firms' innovation: Evidence from China
Authors: Qin Xian , Zhang Shiqiang , Liao Xianchun , Niu Haitao , Dnes Antony 
Published: October 2022

AbstractThe existing researches on firms' innovation ignore the influence of peer firms; thus, this paper empirically examines the peer contagion effects of firms' innovation in China. The results indicate firms' innovation is significantly influenced by peers, and the macro‐marketization and meso‐industry competition promote the effects, whereas the micro firm managerial ability inhibits them. The study also finds the influence mechanism in breakthrough innovation and incremental innovation is different. Further prioritization tests reveal marketization, and industry competition prioritizes the effects over managerial ability. Our conclusions enrich literature on peer contagion effects, factors influencing innovation, and dual innovation theory.
Does CSR influence privatization wave?
Authors: Chen Ding , Wang Leonard F. S. , Sun Ji 
Published: October 2022

AbstractIn this paper, we formulate a mixed oligopoly model with many public firms and the consumer's cognition of the CSR activity of private firms. We show that the privatization wave will be beneficial for incumbent firms while harming consumers; more importantly, from the perspective of social welfare, consumer cognition on CSR will suppress any privatization wave, while whether the degree of “Cheap‐Talk” CSR suppresses or boosts the privatization wave depends on the degree of “Cheap‐Talk” CSR and the number of incumbent public firms.
Droplet Microfluidics for the Label‐Free Extraction of Complete Phase Diagrams and Kinetics of Liquid–Liquid Phase Separation in Finite Volumes
Authors: Villois Alessia , Capasso Palmiero Umberto , Mathur Prerit , Perone Gaia , Schneider Timo , Li Lunna , Salvalaglio Matteo , deMello Andrew , Stavrakis Stavros , Arosio Paolo 
Published: October 2022

AbstractLiquid–liquid phase separation of polymer and protein solutions is central in many areas of biology and material sciences. Here, an experimental and theoretical framework is provided to investigate the thermodynamics and kinetics of liquid–liquid phase separation in volumes comparable to cells. The strategy leverages droplet microfluidics to accurately measure the volume of the dense phase generated by liquid–liquid phase separation of solutions confined in micro‐sized compartments. It is shown that the measurement of the volume fraction of the dense phase at different temperatures allows the evaluation of the binodal lines that determine the coexistence region of the two phases in the temperature‐concentration phase diagram. By applying a thermodynamic model of phase separation in finite volumes, it is further shown that the platform can predict and validate kinetic barriers associated with the formation of a dense droplet in a parent dilute phase, therefore connecting thermodynamics and kinetics of liquid–liquid phase separation.
Ferroelectric Nanogap‐Based Steep‐Slope Ambipolar Transistor
Authors: Guan Yaodong , Guo Zhe , You Long 
Published: October 2022

AbstractThe subthreshold swing (SS) of metal–oxide‐semiconductor field‐effect transistors is limited to 60 mV dec−1 at room temperature by the Boltzmann tyranny, which restricts the scaling of the supply voltage. A nanogap‐based transistor employs a switchable nanoscale air gap as the channel, offering a steep‐slope switching process. Meanwhile, nanogaps featuring even sub‐3 nm can efficiently block the current flow, exhibiting the potential for tackling the short‐channel effect. Here, an electrically switchable ferroelectric nanogap to construct steep‐slope transistors, is exploited. An average SS of 15.9 mV dec−1 across 5 orders and a minimum SS of 13.23 mV dec−1 are obtained in the high current density range. The transistor exhibits excellent performance with near‐zero off‐state leakage current and a maximum on‐state current of 202 µA µm−1 at VDS = 0.5 V. In addition, the transistor can turn off with either a positive or negative increase in the gate voltage, exhibiting ambipolar characteristics.