bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias
Authors: Silveira Karina C. , Kanazawa Thatiane Y. , Silveira Cynthia , Lacarrubba‐Flores Maria D. J. , Carvalho Benilton S. , Cavalcanti Denise P. 
Published: September 2021

AbstractMolecular diagnosis is important to provide accurate genetic counseling of skeletal dysplasias (SD). Although next‐generation sequencing (NGS) techniques are currently the preferred methods for analyzing these conditions, some of the published results have not shown a detection rate as high as it would be expected. The present study aimed to assess the diagnostic yield of targeted NGS combined with Sanger sequencing (SS) for low‐coverage exons of genes of interest and exome sequencing (ES) in a series of patients with rare SD and use two patients as an example of our strategy. This study used two different in‐house panels. Of 93 variants found in 88/114 (77%) patients, 57 are novel. The pathogenic variants found in the following genes: B3GALT6, PCYT1A, INPPL1, LIFR, of four patients were only detected by SS. In conclusion, the high diagnostic yield reached in the present study can be attributed to both a good selection of patients and the utilization of the SS for the insufficiently covered regions. Additionally, the two case reports—a patient with acrodysostosis related to PRKAR1A and another with ciliopathy associated with KIAA0753, add new and relevant clinical information to the current knowledge.
Investigation of Hydrophosphorylation Reaction of Pentacoordinate Hydrospirophosphorane and Electron‐Deficient Alkenes Catalyzed by Organic Phosphine
Authors: Guo Shanqi , Han Kehui , Wang Di , Guo Yanchun , Cao Shuxia , Zhao Yufen 
Published: September 2021

AbstractPR3 efficiently catalyzes the addition of H‐spirophosphorane to electron‐deficient alkenes to give the spirophosphoranes with a pentacoordinate P−C bond in moderate to excellent yields. This practical procedure was conducted by using PR3 as an organocatalyst, which avoided the use of an additional base, traditional heating, and metal reagents. The investigation of the reaction mechanism showed that the zwitterion intermediate served as the base to further catalyze hydrospirophosphorane. Then the spirophosphoranide formed as a nucleophile attacked electron‐deficient alkene to give the addition products. This reaction is a first and simple hydrophosphorylation reaction of alkenes to construct pentacoordinate P−C bond under organocatalysis
High‐Performant All‐Organic Aqueous Sodium‐Ion Batteries Enabled by PTCDA Electrodes and a Hybrid Na/Mg Electrolyte
Authors: Karlsmo Martin , Bouchal Roza , Johansson Patrik 
Published: September 2021

AbstractAqueous sodium‐ion batteries (ASIBs) are aspiring candidates for low environmental impact energy storage, especially when using organic electrodes. In this respect, perylene‐3,4,9,10‐tetracarboxylic dianhydride (PTCDA) is a promising anode active material, but it suffers from extensive dissolution in conventional aqueous electrolytes. As a remedy, we here present a novel aqueous electrolyte, which inhibits the PTCDA dissolution and enables their use as all‐organic ASIB anodes with high capacity retention and Coulombic efficiencies. Furthermore, the electrolyte is based on two, hence “hybrid”, inexpensive and non‐fluorinated Na/Mg‐salts, it displays favourable physico‐chemical properties and an electrochemical stability window >3 V without resorting to the extreme salt concentrations of water‐in‐salt electrolytes. Altogether, this paves the way for ASIBs with both relatively high energy densities, inexpensive total cell chemistries, long‐term sustainability, and improved safety.
Biodegradable polyhydroxybutyrate/cellulose/calcium carbonate bioplastic composites prepared by heat‐assisted solution casting method
Authors: A. Adorna Joemer , G. Ventura Ruby Lynn , Dang Van Dien , Doong Ruey‐An , S. Ventura Jey‐R 
Published: September 2021

AbstractPolyhydroxybutyrate (PHB) is a sought‐after alternative biopolymer to synthetics with its high biodegradability and similar properties to available polymers. However, its high production cost narrows its market application. In this study, cheap, biocompatible, and widely available fillers such as cellulose (CL) and calcium carbonate (CC) were incorporated into PHB using a heat‐assisted solution casting method to reduce the manufacturing cost of the bioplastic while retaining its properties. Characterization tests found that both natural fillers have relatively low miscibility with PHB which may be accounted for by self‐ and co‐agglomeration of the fillers while having improved thermal stability. The Young's modulus of the bioplastic films increased with the introduction of CC, while the mechanical property slightly decreased upon the addition of CL attributing to the aggregation of fillers. Full biodegradation of all composites within 8 weeks was observed in the compost biodegradability tests; PHB 90 CC 10 biodegraded the slowest after the 50th day, while PHB 90 CL 10 fully disintegrated after the 30th day. Further improvements such as the incorporation of cheap, naturally derived crosslinkers or plasticizers can greatly improve the properties of the synthesized biocomposites.
Overconnectivity of the right Heschl's and inferior temporal gyrus correlates with symptom severity in preschoolers with autism spectrum disorder
Authors: Kim Daegyeom , Lee Joo Young , Jeong Byeong Chang , Ahn Ja‐Hye , Kim Johanna Inhyang , Lee Eun Soo , Kim Hyuna , Lee Hyun Ju , Han Cheol E. 
Published: September 2021

AbstractPrevious studies have reported varying findings regarding the association of brain connectivity in autism spectrum disorder (ASD) with overconnectivity, underconnectivity, or both. Despite the emerging understanding that ASD is a developmental disconnection syndrome, very little is known about structural brain networks in preschool‐aged children with low‐functioning ASD. We aimed to investigate the structural brain connectivity of low‐functioning ASD using diffusion magnetic resonance imaging and graph theory to examine alterations in different brain network topologies and identify any correlations with the clinical severity of ASD in preschool‐aged children. Fifty‐two preschool‐aged children (28 with ASD and 24 with typical development) were included in the analysis. Graph‐based network analysis was performed to examine the global and local structural brain networks. Nodal network measures exhibited increased nodal strength in the right Heschl's gyrus, which was positively associated with all autistic clinical symptoms (Autism Diagnostic Observation Schedule and Childhood Autism Rating Scale [CARS]). The nodal strength of the right inferior temporal gyrus showed a moderate correlation with the CARS score. Using network‐based statistics, we identified a subnetwork with increased connections encompassing the right Heschl's gyrus and the right inferior temporal gyrus in preschool‐aged children with ASD. The asymmetric value in the inferior temporal gyrus exhibited right dominance of nodal strength in children with ASD compared to that in typically developing children. Our findings support the theory of aberrant brain growth and overconnectivity as the underlying mechanism of ASD and provides new insights into potential regional biomarkers that can detect low‐functioning ASD in preschool‐aged children.Lay SummaryThis study supports the theory of aberrant brain growth and overconnectivity as an explanation for ASD. Measuring the right HG and inferior temporal gyrus provides new insights of potential regional biomarkers underpinning ASD in preschool‐aged children.
Guiding Uniform Sodium Deposition through Host Modification for Sodium Metal Batteries
Authors: Soni Chhail Bihari , Kumar Vipin , Seh Zhi Wei 
Published: September 2021

AbstractRoom‐temperature Na metal batteries represent an emerging energy storage technology beyond Li‐ion batteries, owing to the high specific capacity and high natural abundance of Na. However, Na metal anodes are plagued with multiple challenges including unstable solid electrolyte interphase, undesirable dendrite growth, and large volumetric expansion, leading to low Coulombic efficiency during Na plating and stripping. To this end, mechanically stable and sodiophilic hosts with nano‐ or micro‐structured materials have been investigated to accommodate Na in the structured spacing or gaps for enhanced cyclability. In this concept, we will discuss the key concepts and latest developments in guiding uniform Na deposition through host modification, especially carbon, inorganic and polymeric materials. Future prospects and outlook will also be provided, including artificial interphase design, solid‐state electrolytes, and precise nanoscale characterization to improve our fundamental understanding of Na deposition and spur this burgeoning field in Na metal batteries.
A Case of ST‐Elevation Acute Myocardial Infarction in a Nonhospitalized Patient with SARS‐CoV‐2 Pneumonia: Treatment with Primary Percutaneous Coronary Intervention
Authors: Shimai Ryosuke , Ouchi Shohei , Miyazaki Tetsuro , Hirabayashi Koji , Abe Hiroshi , Yabe Kosuke , Maki Masaaki , Isogai Hiroyuki , Wada Takeshi , Ozaki Dai , Odagiri Fuminori , Hiki Makoto , Yaginuma Kenji , Yokoyama Ken , Tokano Takashi , Minamino Tohru 
Published: September 2021

AbstractWe experienced a case of primary percutaneous coronary intervention for ST‐elevation myocardial infarction (STEMI) with coronavirus disease 2019 (COVID‐19) using appropriate infection prevention protocol. However, recanalization was difficult due to severe coagulopathy. Further researches are needed to clarify optimal treatment for STEMI in patients with COVID‐19.
A Series of Iron(II)‐NHC Sensitizers with Remarkable Power Conversion Efficiency in Photoelectrochemical Cells**
Authors: Marri Anil Reddy , Marchini Edoardo , Cabanes Valentin Diez , Argazzi Roberto , Pastore Mariachiara , Caramori Stefano , Bignozzi Carlo Alberto , Gros Philippe C. 
Published: September 2021

AbstractA series of six new Fe(II)NHC‐carboxylic sensitizers with their ancillary ligand decorated with functions of varied electronic properties have been designed with the aim to increase the metal‐to‐ surface charge separation and light harvesting in iron‐based dye‐sensitized solar cells (DSSCs). ARM130 scored the highest efficiency ever reported for an iron‐sensitized solar cell (1.83 %) using Mg2+ and NBu4I‐based electrolyte and a thick 20 μm TiO2 anode. Computational modelling, transient absorption spectroscopy and electrochemical impedance spectroscopy (EIS) revealed that the electronic properties induced by the dimethoxyphenyl‐substituted NHC ligand of ARM130 led to the best combination of electron injection yield and spectral sensitivity breadth.
Integration of in vitro allergy test results and ratio analysis for the diagnosis and treatment of allergic patients (INTEGRA)
Authors: Pascal Mariona , Moreno Carmen , Dávila Ignacio , Tabar Ana I. , Bartra Joan , Labrador Moisés , Luengo Olga 
Published: September 2021

AbstractThe introduction of molecular diagnosis into routine clinical practice has substantially improved the diagnosis and management of allergic patients by allowing clinicians to precisely identify the allergenic molecule responsible for immunoglobulin E (IgE)‐mediated allergies. However, it can be challenging to accurately interpret the results of molecular assays, partly due to the limited evidence base. In this context, a panel of experts with extensive experience in interpreting in vitro measures of total and serum specific IgE reviewed the available scientific evidence. After this review, the panel selected a series of representative case studies to demonstrate how determination of specific and total IgE values and the relationship between them (ratio analysis) can add value to the diagnostic process by more precisely defining the patient’s sensitization profile. Finally, the experts developed a series of recommendations on the clinical application of ratio analysis to optimize and complement the classical approach to allergy diagnosis.
Speedup of discrete Fourier transform by efficient modular arithmetic
Authors: Zhang Yi , Sun Mengdi , Qi Xin 
Published: September 2021

SummaryThe fast Fourier transform (FFT) based on modular arithmetic can compute convolution without round‐off errors, which is desirable in many applications such as computational algebra and combinatory pattern matching. One of the critical challenges of the FFT is to enhance the performance. An effective approach is to optimize the high‐cost operations. Modular reduction is one of the most frequently used high‐cost operations that is a bottleneck of the FFT using modular arithmetic. In this article, we present three modular reduction methods and apply them to the implementation of the FFT. We use the strategy of delaying the modular reduction in the first method. We apply the Montgomery reduction to the FFT in the second method. The two methods both first transform the input, and then replace the modular reductions with lightweight replacements, and apply the reverse transform in the output stage to compute the right results. In the third method, we design an efficient modular reduction for the specific form of modular used in FFT. Experiments show that the incorporation of the new modular reductions speedups the FFT based on modular arithmetic.
An improved switched‐ladder bidirectional multilevel inverter: Topology, operating principle, and implementation
Authors: Hosseinpour Majid , Seifi Ali , Babaei Ebrahim 
Published: September 2021

AbstractMulti‐level inverters (MLIs) for medium or high power and voltage utilization have acceptable application in industry and are utilized commercially. The performance of MLIs is considerably preferable to traditional two‐level inverters due to their negligible harmonic content, small filter size, utilization of lower‐rated voltage devices, low electromagnetic interference (EMI), and so on. However, in the face of these many advantages, few disadvantages can be expressed such as more device count and a sophisticated control strategy. This paper presents an improved switched‐ladder topology to enhance the performance of multi‐level inverters by improving the above drawbacks. Compared to existing inverter topologies, the proposed extendable diode‐containing bidirectional structure requires fewer switches and driver circuits. The proposed topology is compared with other similar topologies, and its superiority is examined. Fundamental switching frequency modulation technique is utilized to obtain high‐quality output voltage waveforms with lower harmonic contents and reduced switching losses. This converter, despite the use of diodes, can supply the low power factor inductive‐resistive loads, bidirectionally. To demonstrate the performance of the proposed topology, in addition to simulation with the nearest level modulation technique, a prototype of the proposed structure has been implemented and tested. The results display the proper performance of the proposed topology in the real‐time environment.
The biology of seed discrimination and its role in shaping the foraging ecology of carabids: A review
Authors: Ali Khaldoun A. , Willenborg Christian J. 
Published: September 2021

AbstractSpecies of carabid (ground) beetles are among the most important postdispersal weed seed predators in temperate arable lands. Field studies have shown that carabid beetles can remove upwards of 65%–90% of specific weed seeds shed in arable fields each year. Such data do not explain how and why carabid predators go after weed seeds, however. It remains to be proven that weed seed predation by carabids is a genuine ecological interaction driven by certain ecological factors or functional traits that determine interaction strength and power predation dynamics, bringing about therefore a natural regulation of weed populations. Along these lines, this review ties together the lines of evidence around weed seed predation by carabid predators. Chemoperception rather than vision seems to be the primary sensory mechanism guiding seed detection and seed selection decisions in carabid weed seed predators. Selection of weed seeds by carabid seed predators appears directed rather than random. Yet, the nature of the chemical cues mediating detection of different seed species and identification of the suitable seed type among them remains unknown. Selection of certain types of weed seeds cannot be predicted based on seed chemistry per se in all cases, however. Rather, seed selection decisions are ruled by sophisticated behavioral mechanisms comprising the assessment of both chemical and physical characteristics of the seed. The ultimate selection of certain weed seed types is determined by how the chemical and physical properties of the seed match with the functional traits of the predator in terms of seed handling ability. Seed density, in addition to chemical and physical seed traits, is also an important factor that is likely to shape seed selection decisions in carabid weed seed predators. Carabid responses to seed density are rather complex as they are influenced not only by seed numbers but also by trait‐based suitability ranks of the different seed types available in the environment.
Resolving the origins of invertebrate colonists in the Yangtze River Estuary with molecular markers: Implications for ecological connectivity
Authors: Li Yu‐Qiang , Li Meng‐Yu , Xing Teng‐Fei , Liu Jin‐Xian 
Published: September 2021

AbstractUnderstanding connectivity over different spatial and temporal scales is fundamental for managing of ecological systems. However, controversy exists for wintertime ecological connectivity between the Yangtze River Estuary (YRE) and inner southwestern Yellow Sea. Here, we investigated ecological connectivity between the YRE and inner southwestern Yellow Sea in wintertime by precisely pinpointing the source of the newly colonized populations of a winter‐spawning rocky intertidal invertebrate, Littorina brevicula (Philippi, 1844), on artificial structures along the coast of the Yangtze River Delta (YRD) using mitochondrial ND6 sequences and microsatellite data. Clear phylogeographic and genetic differentiation were detected between natural rocky populations south and north of the YRE, which resulted from the lack of hard substrate for rocky invertebrates in the large YRD coast. For the newly colonized populations on the coast of YRD, most individuals (98%) to the south of ~33.5°N were from natural rocky populations to the south of the YRE and most of those (94%) to the north of ~33.5°N were from the northern natural rocky populations, which demonstrated strong ecological connectivity between the inner southwestern Yellow Sea and the YRE in winter time. We presented the first genetic evidence that demonstrated a northward wintertime coastal current in the inner southwestern Yellow Sea, and precisely illustrated the boundary of the coastal current recently proposed by numerical experiment. These results indicated that the YRE serves as an important source of materials and energy for the inner southwestern Yellow Sea in winter, which can be crucial for the function of the Yellow Sea ecosystem.
A direct comparison of the effects and mechanisms between species richness and genotype richness in a dominant species on multiple ecosystem functions
Authors: Jiang Man , Yang Xue , Wang Tao , Xu Yujuan , Dong Ke , He Luoyang , Liu Yulin , Wang Jinlong , Zhao Nianxi , Gao Yubao 
Published: September 2021

AbstractBoth species (interspecific) richness and genotype (intraspecific) richness of dominant species have significant effects on ecosystem functioning directly or indirectly by regulating plant community functional structure. However, the similarities and differences of the effects between inter‐ and intraspecific levels are poorly understood. In this study, we selected the main species in the semi‐arid Eurasian typical steppe as study objects and simultaneously carried out a species richness experiment and a genotype richness experiment ofStipa grandiswhich is one of the dominant species in this region. We investigated how plants at each of the two richness levels affected multiple ecosystem functions (biomass, soil C, N and P cycles) directly and indirectly by regulating community functional structure, including community‐weighted mean trait values (CWM) and functional dispersion (FDis). Both species richness and genotype richness showed significant direct effects on soil P cycle, and FDis significantly mediated the responses of aboveground biomass and soil N cycle to the changes of species richness and the response of belowground biomass to the changes of genotype richness inS. grandis. CWM showed significant effects on biomass in the species richness experiment and soil nutrient cycles in the genotype richness experiment, independently of the levels of plant richness. These findings provide experimental insights of intraspecific richness effects into the relationships between biodiversity and ecosystem functioning, and highlight the importance of conserving the intraspecific diversity of dominant species in the semi‐arid steppe regions.
The Efficacy, Safety, and Outcomes of Brain‐responsive Neurostimulation (RNS® System) therapy in older adults
Authors: Zawar Ifrah , Krishnan Balu , Mackow Michael , Alexopoulos Andreas , Nair Dileep , Punia Vineet 
Published: September 2021

AbstractObjectivesThe gold standard for the management of drug‐resistant focal epilepsy (DRE) is resection of epileptogenic zone. However, some patients may not be candidates for resection. Responsive neurostimulation is approved in patients above 18 years of age for such patients. We aimed to investigate whether RNS outcomes and safety varied based on age.MethodsWe performed a single‐center retrospective cohort study of patients with DRE who were treated with RNS between May 2008 and February 2020. We included patients who had been implanted with RNS for >6 months (N = 55), dividing them into older (N = 11) and younger adults (N = 44) depending on implantation age (≥50 and <50 years, respectively).ResultsMean age at implantation in older adults was 54.9 ± 3.5 years. Seizure onset age, epilepsy duration, and comorbidities were significantly higher in older adults ( P < .01). Stimulation parameters, treatment duration, and median seizure frequency reduction (76% in older vs 50% in younger adults) were statistically comparable between the two cohorts. Posttreatment, antiseizure medication burden was significantly decreased in older compared with younger adults (P = .048). Postoperative and delayed adverse events among older adults were mild. Compared with three younger adults, none of the older adults required device explantation due to surgical site infection.ConclusionOur study suggests that older adults treated with the RNS System achieve seizure outcomes comparable to younger adults with the additional benefit of a significant postimplantation medication reduction. With efficacy and safety similar to younger adults, brain‐responsive neurostimulation was well‐tolerated in older adults.