bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency
Authors: Wang Chaohong , Tang Junxiang , Tong Keting , Huang Daoqi , Tu Huayu , Zhu Jiansheng 
Published: May 2022

AbstractObjectiveTo evaluate if the NT value of 2.5 mm ≤ NT < 3.0 mm is an appropriate indication for CMA tests among fetuses with isolated increased NT and NIPT is more suitable instead.MethodsA total of 442 fetuses with NT ≥ 2.5 mm were included, in which 241 fetuses underwent karyotype. CMA tests were then carried out when cytogenic analysis showed normal chromosomes and CNV status was compared between 2.5 mm ≤ NT < 3.0 mm and ≥3.0 mm subgroups. For the NIPT evaluation, 201 of 442 fetuses with smaller increased NT (2.5 mm ≤ NT < 3.0 mm) was examined by either NIPT or karyotype.ResultsOf the 241 fetuses with NT ≥ 2.5 mm, 47(19.50%) were identified by karyotype with chromosomal abnormalities. Among 194 cases with normal karyotype, CMA unraveled additional CNVs in 16(8.25%) cases, including 3(1.55%) pathogenic CNVs, 2(1.03%) likely pathogenic CNVs and 11(5.67%) VOUS. After the subgroup analysis, however, only one case (1.16%) of likely pathogenic was identified by CMA among 86 fetuses with NT between 2.5 mm and 3.0 mm, whereas the rest of 15 CNV cases were all presented in fetuses with NT ≥ 3.0 mm. For the NIPT evaluation, the detection rate of 201 fetuses with isolated increased NT between 2.5 and 3.0 mm was 3.98%, which was indifferent to karyotype with the rate of 5%. In comparison with fetuses with 2.5–3.0 mm combined with other risks, the detection rate of karyotype was 26.92%.ConclusionWhile no pathogenic CNVs were detected in fetuses, chromosomal aneuploidies and genomic imbalance were found to be the major type of abnormalities when NT was 2.5–3.0 mm. Therefore, our data suggested that CMA should not be recommended when fetuses with an NT value less than 3.0 mm. Instead, NIPT with similar rate of detection as karyotype was recommended for fetuses with isolated increased NT between 2.5 and 3.0 mm.
Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome
Authors: Sato Hiroki , Suga Kenichi , Suzue Masashi , Honma Yukako , Hayabuchi Yasunobu , Miyai Shunsuke , Kurahashi Hiroki , Nakagawa Ryuji 
Published: May 2022

AbstractEllis–van Creveld syndrome is an autosomal recessive skeletal dysplasia that is characterized by thoracic hypoplasia, polydactyly, oral abnormalities, and congenital heart disease. It is caused by pathogenic variants in the EVC or EVC2 genes. We report a case of a newborn with a compound heterozygous variant comprising NM_147127.5: c.1991dup:[p.Lys665Glufs*10] in the EVC2 gene and a novel large deletion involving exon 1 in EVC and exons 1–7 in EVC2.
Dynamically actuated soft heliconical architecture via frequency of electric fields
Authors: Liu Binghui , Yuan Cong-Long , Hu Hong-Long , Wang Hao , Zhu Yu-Wen , Sun Pei-Zhi , Li Zhi-Ying , Zheng Zhi-Gang , Li Quan 
Published: May 2022

Abstract Dynamic electric field frequency actuated helical and spiral structures enable a plethora of attributes for advanced photonics and engineering in the contemporary era. Nevertheless, leveraging the frequency responsiveness of adaptive devices and systems within a broad dynamic range and maintaining restrained high-frequency induced heating remain challenging. Herein, we establish a frequency-actuated heliconical soft architecture that is quite distinct from that of common frequency-responsive soft materials. We achieve reversible modulation of the photonic bandgap in a wide spectral range by delicately coupling the frequency-dependent thermal effect, field-induced dielectric torque and elastic equilibrium. Furthermore, an information encoder prototype without the aid of complicated algorithm design is established to analogize an information encoding and decoding process with a more convenient and less costly way. A technique for taming and tailoring the distribution of the pitch length is exploited and embodied in a prototype of a spatially controlled soft photonic cavity and laser emission. This work demonstrates a distinct frequency responsiveness in a heliconical soft system, which may not merely inspire the interest in field-assisted bottom-up molecular engineering of soft matter but also facilitate the practicality of adaptive photonics.
Structural insights into the HBV receptor and bile acid transporter NTCP
Authors: Park Jae-Hyun , Iwamoto Masashi , Yun Ji-Hye , Uchikubo-Kamo Tomomi , Son Donghwan , Jin Zeyu , Yoshida Hisashi , Ohki Mio , Ishimoto Naito , Mizutani Kenji , Oshima Mizuki , Muramatsu Masamichi , Wakita Takaji , Shirouzu Mikako , Liu Kehong , Uemura Tomoko , Nomura Norimichi , Iwata So , Watashi Koichi , Tame Jeremy R. H. , Nishizawa Tomohiro , Lee Weontae , Park Sam-Yong 
Published: May 2022

AbstractAround 250 million people are infected with hepatitis B virus (HBV) worldwide1, and 15 million may also carry the satellite virus hepatitis D virus (HDV), which confers even greater risk of severe liver disease2. The HBV receptor has been identified as sodium taurocholate co-transporting polypeptide (NTCP), which interacts directly with the first 48 amino acid residues of the N-myristoylated N-terminal preS1 domain of the viral large protein3. Despite the pressing need for therapeutic agents to counter HBV, the structure of NTCP remains unsolved. This 349-residue protein is closely related to human apical sodium-dependent bile acid transporter (ASBT), another member of the solute carrier family SLC10. Crystal structures have been reported of similar bile acid transporters from bacteria4,5, and these models are believed to resemble closely both NTCP and ASBT. Here we have used cryo-electron microscopy to solve the structure of NTCP bound to an antibody, clearly showing that the transporter has no equivalent of the first transmembrane helix found in other SLC10 proteins, and that the N terminus is exposed on the extracellular face. Comparison of our structure with those of related proteins indicates a common mechanism of bile acid transport, but the NTCP structure displays an additional pocket formed by residues that are known to interact with preS1, presenting new opportunities for structure-based drug design.
Effects of different protein levels on growth performance and stress parameters in beef calves under heat stress
Authors: Kim Won Seob , Ghassemi Nejad Jalil , Peng Dong Qiao , Jo Yong Ho , Kim Jongkyoo , Lee Hong Gu 
Published: May 2022

AbstractThis study investigated the effects of dietary protein levels under various heat stress (HS) conditions on the growth performance and stress parameters in Korean native beef calves. Male calves (n = 40; initial BW = 202.2 ± 3.31 kg) were randomly assigned to climatic-controlled chambers with 3 × 3 factorial arrangements. Calves were assigned into three dietary protein levels (low protein; LP = 12.5%, medium protein; MP = 15%, and high protein; HP = 17.5%) and three HS levels [mild: temperature-humidity index (THI) = 74 to 76, moderate: THI = 81 to 83, and severe: THI = 89 to 91] with control (threshold: THI = 70 to 73 and dietary protein level 12.5%). The calves were subjected to ambient temperature (22 °C) for 7 days and subsequently to the temperature and humidity corresponding to the target THI level for 21 days. The data were analyzed using the repeated-measures analysis by the GLM procedure of SAS. As a result, average daily gain (ADG) was decreased (P < 0.05) under severe HS level compared to the mild and moderate HS stress levels. However, HP increased ADG (P < 0.05) than moderate levels (LP) and severe levels (LP and MP). Under different HS levels (mild, moderate, and severe), HR, RT, and blood cortisol were increased (P < 0.05) compared to a threshold level, but no differences were observed in the parameters among various protein levels. Varied HS levels decreased the levels of blood glucose, NEFA, and amino acids (AAs) (lysine and glutamic acid) compared to a threshold (P < 0.05). But, the HP group resulted in increased (P < 0.05) levels of blood glucose, NEFA, and AAs (lysine and glutamic acid) compared to LP and MP groups under severe HS stress. The expression level of the HSP70 gene in peripheral blood mononuclear cell (PBMC) and hair follicles was increased (P < 0.05) following an increase in moderate and severe HS levels. Also, HSP70 gene expression in the HP group was decreased (P < 0.05) compared with LP and MP groups under intense HS level. Overall, HS in Korean native beef calves exhibited negative effects on ADG, blood glucose, NEFA, and AA profile. However, 17.5% of dietary protein (HP) could compensate for the growth of heat-exposed Korean native beef calves through the regulation of homeostasis by protein and energy metabolism. Also, it was evident that adequate protein (HP) is used as a major nutrient for HSP70 synthesis in PBMC and hair follicles causing, a boost in the immune system of heat-exposed Korean native beef calves.
One-year results of treat-and-extend regimen with intravitreal brolucizumab for treatment-naïve neovascular age-related macular degeneration with type 1 macular neovascularization
Authors: Matsumoto Hidetaka , Hoshino Junki , Mukai Ryo , Nakamura Kosuke , Akiyama Hideo 
Published: May 2022

AbstractWe evaluated 1-year outcomes of loading phase treatment followed by maintenance treatment using a treat-and-extend (TAE) regimen with intravitreal brolucizumab for neovascular age-related macular degeneration (nAMD) associated with type 1 macular neovascularization (MNV). We analyzed 68 eyes of 65 consecutive patients with treatment-naïve nAMD associated with type 1 MNV. Forty-five eyes (66.2%) completed the 1-year treatment with intravitreal brolucizumab. In those cases, best-corrected visual acuity (BCVA) showed significant improvement, while there were significant reductions in foveal thickness and central choroidal thickness, after the initial brolucizumab injection, which were maintained until the last visit. The average total number of injections over 1 year was 6.4 ± 0.6. The average intended injection interval at the last visit was 14.0 ± 2.9 weeks. Moreover, 17of 23 eyes (73.9%) with polypoidal lesions showed complete regression of these lesions after the loading phase treatment. Although intraocular inflammation (IOI) was observed in 15 of 68 eyes (22.1%) within 1 year, amelioration in response to combination therapy with topical and subtenon injection of steroids, without visual decline, was obtained. These results indicate that loading phase treatment followed by the TAE regimen with intravitreal brolucizumab might improve BCVA and ameliorate exudative changes in eyes with treatment-naïve nAMD associated with type 1 MNV. Moreover, intravitreal brolucizumab can potentially reduce the treatment burden of nAMD. Prompt steroid therapy might be efficacious for ameliorating brolucizumab-related IOI without visual decline.
ERBB3 methylation and immune infiltration in tumor microenvironment of cervical cancer
Authors: Yang Xiaoyue , Chen Ying , Li Mei , Zhu Weipei 
Published: May 2022

AbstractERBB3, a member of the ERBB family of receptor tyrosine kinases, plays an important role in cancer, despite its lack of intrinsic carcinogenic mechanism of cervical squamous cell carcinoma and endocervical adenocarcinoma (CESC). Research on bioinformatics methods through multi-omics, this work proves that ERBB3 gene mutation, methylation modification have extensive regulatory mechanisms on the CESC microenvironment. We found that ERBB3 is involved in carcinogenesis of cervical cancer and is not associated with its prognosis. The carcinogenic mechanism is mainly related to the suppression of the immune system between tumor infiltrating lymphocytes (TILs) and the methylation of the RNA level. Our study indicated ERBB3 is more likely to be a carcinogenic factor than a key prognostic factor for cervical cancer. Methylation of ERBB3 may work as a checkpoint immunotherapy target in CESC, DNA methylation modification of the 4480 base pair downstream of ERBB3 transcription initiation site was the highest.
Study of the volatilization rules of volatile oil and the sustained-release effect of volatile oil solidified by porous starch
Authors: Ren Guilin , Ke Gang , Huang Rui , Pu Qingrong , Zhao Jian , Zheng Qin , Yang Ming 
Published: May 2022

AbstractVolatile oil from traditional Chinese medicine has various biological activities and has pharmacological activities in the central nervous system, digestive system, cardiovascular system, respiratory system, etc. These oils are widely used in clinical practice. However, the development of their clinical applications is restricted due to the disadvantages of volatile oils, such as high stimulation, high volatility and poor stability. To improve the stability of a volatile oil in the preparation process, its volatilization and stable release must be controlled. In this paper, porous starch was used as a solid carrier material, and liquid volatile oil was solidified by physical adsorption. GC–MS was used to determine the chemical constituents of the volatile oil, solidified powder and tablets, and the volatilization rules of 34 chemical constituents were analysed statistically. The solidified volatile oil/porous starch powder was characterized by XRD, TGA and DSC, and the VOCs of the volatile oil before and after solidification were analysed by portable GC–MS. Finally, the stable release of the volatile oil could be optimized by changing the porous starch ratio in the formulation. Volatilization was shown to be closely related to the peak retention time and chemical composition, which was consistent with the theory of flavour. The physical properties and chemical composition of the volatile oil did not change after curing, indicating that the adsorption of the volatile oil by porous starch was physical adsorption. In this paper, the porous starch-solidified volatile oil had a slow-release effect, and the production process is simple, easy to operate, and has high application value.
Biomimetic on-chip filtration enabled by direct micro-3D printing on membrane
Authors: Li Hongxia , Raza Aikifa , Yuan Shaojun , AlMarzooqi Faisal , Fang Nicholas X. , Zhang TieJun 
Published: May 2022

AbstractMembrane-on-chip is of growing interest in a wide variety of high-throughput environmental and water research. Advances in membrane technology continuously provide novel materials and multi-functional structures. Yet, the incorporation of membrane into microfluidic devices remains challenging, thus limiting its versatile utilization. Herein, via micro-stereolithography 3D printing, we propose and fabricate a “fish gill” structure-integrated on-chip membrane device, which has the self-sealing attribute at structure-membrane interface without extra assembling. As a demonstration, metallic micromesh and polymeric membrane can also be easily embedded in 3D printed on-chip device to achieve anti-fouling and anti-clogging functionality for wastewater filtration. As evidenced from in-situ visualization of structure-fluid-foulant interactions during filtration process, the proposed approach successfully adopts the fish feeding mechanism, being able to “ricochet” foulant particles or droplets through hydrodynamic manipulation. When benchmarked with two common wastewater treatment scenarios, such as plastic micro-particles and emulsified oil droplets, our biomimetic filtration devices exhibit 2 ~ 3 times longer durability for high-flux filtration than devices with commercial membrane. This proposed 3D printing-on-membrane approach, elegantly bridging the fields of microfluidics and membrane science, is instrumental to many other applications in energy, sensing, analytical chemistry and biomedical engineering.
Buckling stability analysis of underpinning piles during basement excavation beneath existing buildings
Authors: Shan Huafeng , Yang Jie , Hu Zhiwen , He Shaoheng 
Published: May 2022

AbstractIn the present paper, the pile-soil system’s total potential energy equation of underpinning piles was established based on the Winkler elastic foundation beam theory. This energy equation was used to explore the effect of basement excavation beneath existing buildings on the underpinning pile’ buckling stability. Utilizing the minimum potential energy theory, the expression of the critical buckling load for underpinning piles’ stability during the excavation project was obtained. Moreover, the influencing factors of the critical buckling load were investigated. It was found that the underpinning pile’s critical load converged with the augment of half-wave number. Moreover, the pile skin friction and deadweight had an insignificant influence on it. In addition, the critical load of underpinning piles decreased sharply with the increasing excavation depth and gradually increased with the augment of pile diameter. The results of this study provides a basis for the design of adding piles in similar projects and reduces the hidden danger of excavation instability.
Homology directed correction, a new pathway model for point mutation repair catalyzed by CRISPR-Cas
Authors: Sansbury Brett M. , Hewes Amanda M. , Tharp Olivia M. , Masciarelli Sophia B. , Kaouser Salma , Kmiec Eric B. 
Published: May 2022

AbstractGene correction is often referred to as the gold standard for precise gene editing and while CRISPR-Cas systems continue to expand the toolbox for clinically relevant genetic repair, mechanistic hurdles still hinder widespread implementation. One of the most prominent challenges to precise CRISPR-directed point mutation repair centers on the prevalence of on-site mutagenesis, wherein insertions and deletions appear at the targeted site following correction. Here, we introduce a pathway model for Homology Directed Correction, specifically point mutation repair, which enables a foundational analysis of genetic tools and factors influencing precise gene editing. To do this, we modified an in vitro gene editing system which utilizes a cell-free extract, CRISPR-Cas RNP and donor DNA template to catalyze point mutation repair. We successfully direct correction of four unique point mutations which include two unique nucleotide mutations at two separate targeted sites and visualize the repair profiles resulting from these reactions. This extension of the cell-free gene editing system to model point mutation repair may provide insight for understanding the factors influencing precise point mutation correction.
A novel nomogram and risk classification system predicting the Ewing sarcoma: a population-based study
Authors: Zheng Yongshun , Lu Jinsen , Shuai Ziqiang , Wu Zuomeng , Qian Yeben 
Published: May 2022

AbstractEwing sarcoma (ES) is a rare disease that lacks a prognostic prediction model. This study aims to develop a nomogram and risk classification system for estimating the probability of overall survival (OS) of patients with ES. The clinicopathological data of ES were collected from the Surveillance, Epidemiology and Final Results (SEER) database from 2010 to 2018. The primary cohort was randomly assigned to the training set and the validation set. Univariate and multiple Cox proportional hazard analyses based on the training set were performed to identify independent prognostic factors. A nomogram was established to generate individualized predictions of 3- and 5-year OS and evaluated by the concordance index (C-index), the receiver operating characteristic curve (ROC), the calibration curve, the integrated discrimination improvement (IDI) and the net reclassification improvement (NRI). Based on the scores calculated with the nomogram, ES patients were divided into three risk groups to predict their survival. A total of 935 patients were identified, and a nomogram consisting of 6 variables was established. The model provided better C-indices of OS (0.788). The validity of the Cox model assumptions was evaluated through the Schönfeld test and deviance residual. The ROC, calibration curve, IDI and NRI indicated that the nomogram exhibited good performance. A risk classification system was built to classify the risk group of ES patients. The nomogram compares favourably and accurately to the traditional SEER tumour staging systems, and risk stratification provides a more convenient and effective tool for clinicians to optimize treatment options.
Lithospheric conductors reveal source regions of convergent margin mineral systems
Authors: Kirkby Alison , Czarnota Karol , Huston David L. , Champion David C. , Doublier Michael P. , Bedrosian Paul A. , Duan Jingming , Heinson Graham 
Published: May 2022

AbstractThe clean energy transition will require a vast increase in metal supply, yet new mineral deposit discoveries are declining, due in part to challenges associated with exploring under sedimentary and volcanic cover. Recently, several case studies have demonstrated links between lithospheric electrical conductors imaged using magnetotelluric (MT) data and mineral deposits, notably Iron Oxide Copper Gold (IOCG). Adoption of MT methods for exploration is therefore growing but the general applicability and relationship with many other deposit types remains untested. Here, we compile a global inventory of MT resistivity models from Australia, North and South America, and China and undertake the first quantitative assessment of the spatial association between conductors and three mineral deposit types commonly formed in convergent margin settings. We find that deposits formed early in an orogenic cycle such as volcanic hosted massive sulfide (VHMS) and copper porphyry deposits show weak to moderate correlations with conductors in the upper mantle. In contrast, deposits formed later in an orogenic cycle, such as orogenic gold, show strong correlations with mid-crustal conductors. These variations in resistivity response likely reflect mineralogical differences in the metal source regions of these mineral systems and suggest a metamorphic-fluid source for orogenic gold is significant. Our results indicate the resistivity structure of mineralized convergent margins strongly reflects late-stage processes and can be preserved for hundreds of millions of years. Discerning use of MT is therefore a powerful tool for mineral exploration.
Periodontal tissue regeneration by transplantation of autologous adipose tissue-derived multi-lineage progenitor cells
Authors: Takedachi Masahide , Sawada Keigo , Sakura Kazuma , Morimoto Chiaki , Hirai Asae , Iwayama Tomoaki , Shimomura Junpei , Kawasaki Kohsuke , Fujihara Chiharu , Kashiwagi Yoichiro , Miyake Akimitsu , Yamada Tomomi , Okura Hanayuki , Matsuyama Akifumi , Saito Masahiro , Kitamura Masahiro , Murakami Shinya 
Published: May 2022

AbstractPeriodontitis is a chronic inflammatory disease that destroys tooth-supporting periodontal tissue. Current periodontal regenerative therapies have unsatisfactory efficacy; therefore, periodontal tissue engineering might be established by developing new cell-based therapies. In this study, we evaluated the safety and efficacy of adipose tissue-derived multi-lineage progenitor cells (ADMPC) autologous transplantation for periodontal tissue regeneration in humans. We conducted an open-label, single-arm exploratory phase I clinical study in which 12 periodontitis patients were transplanted with autologous ADMPCs isolated from subcutaneous adipose tissue. Each patient underwent flap surgery during which autologous ADMPCs were transplanted into the bone defect with a fibrin carrier material. Up to 36 weeks after transplantation, we performed a variety of clinical examinations including periodontal tissue inspection and standardized dental radiographic analysis. A 36-week follow-up demonstrated no severe transplantation-related adverse events in any cases. ADMPC transplantation reduced the probing pocket depth, improved the clinical attachment level, and induced neogenesis of alveolar bone. Therapeutic efficiency was observed in 2- or 3-walled vertical bone defects as well as more severe periodontal bone defects. These results suggest that autologous ADMPC transplantation might be an applicable therapy for severe periodontitis by inducing periodontal regeneration.