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Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay： a multicenter study

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Asian Journal of Andrology 2018年第4期20卷 349-354页

作者： Dong-Mei Fu Yu-Lin Zhou Jing Zhao Ping HU Zheng-Feng Xu3 Shi-ming Lv Jun-Jie HU zhong-min xia Qi-Wei Guo United Diagnostic and Research Center for Clinical Genetics School of Public Health of Xiamen University and Xiamen Maternal and Child Health Hospital Xiamen 361003 China xiamen Kingnova Biological Technology Co. Ltd. Xiamen 361028 China Center of Medical Genetics Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University Nanjing 210029 China Clinical Analysis Center Women's Hospital School of Medicine Zhejiang University Hangzhou 310006 China

Klinefelter syndrome （KS） is the set of symptoms that result from the presence of an extra X chromosome in males. Postnatal population-based KS screening will enable timely diagnosis of this common chromosomal disease, providing the opportunity for early intervention and therapy at the time point when they are most effective and may prevent later symptoms or complications. Therefore, through this study, we introduced a simple high-resolution melting （HRM） assay for KS screening and evaluated its clinical sensitivity and specificity in three medical centers using 1373 clinical blood samples. The HRM assay utilized a single primer pair to simultaneously amplify specific regions in zinc finger protein, X-linked （ZFX） and zinc finger protein, Y-linked （ZFY）. In cases of KS, the ratios of ZFX/ZFYare altered compared to those in normal males. As a result, the specific melting profiles differ and can be differentiated during data analysis. This HRM assay displayed high analytical specificity over a wide range of template DNA amounts （5 ng-50 ng） and reproducibility, high resolution for detecting KS mosaicism, and high clinical sensitivity （100%） and specificity （98.1%）. Moreover, the HRM assay was rapid （2 h per run）, inexpensive （0.2 USD per sample）, easy to perform and automatic, and compatible with both whole blood samples and dried blood spots. Therefore, this HRM assay is an ideal postnatal population-based KS screening tool that can be used for different age groups.

关键词： high-resolution melting Klinefelter syndrome multicenter study postnatal population-based screening

Asperuloside Promotes Apoptosis of Cervical Cancer Cells through Endoplasmic Reticulum Stress-Mitochondrial Pathway

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Chinese Journal of Integrative Medicine 2024年第1期30卷 34-41页

作者： QI Zhi-min WANG xia LIU xia ZHAO Juan Medical Examination Center Hebei Province Hospital of Chinese MedicineShijiazhuang(050011)China Department of Gynaecology and Obstetrics Hebei Province Hospital of Chinese MedicineShijiazhuang(050011)China Experimental Center for Teaching Hebei Medical UniversityShijiazhuang(050017)China

Objective: To investigate the effects of asperuloside on cervical cancer based on endoplasmic reticulum(ER) stress and mitochondrial pathway. Methods: Different doses(12.5–800 μg/mL) of asperuloside were used to treat cervical cancer cell lines Hela and CaSki to calculate the half maximal inhibitory concentration(IC_(50)) of asperuloside. The cell proliferation was analyzed by clone formation assay. Cell apoptosis, intracellular reactive oxygen species(ROS) and mitochondrial membrane potential were determined by flow cytometry. The protein expressions of cleaved-caspase-3, Bcl-2, Bax, Cyt-c, cleaved-caspase-4 and glucose-regulated protein 78(GRP78) were analyzed by Western blot. And the inhibitor of ER stress, 4-phenyl butyric acid(4-PBA) was used to treat cervical cancer cells to further verify the role of ER stress in the apoptosis of cervical cancer cells induced by asperuloside. Results: Asperuloside of 325, 650, and 1300 μg/mL significantly inhibited the proliferation and promoted apoptosis of Hela and CaSki cells(P<0.01). All doses of asperuloside significantly increased intracellular ROS levels, reduced mitochondrial membrane potential, significantly reduced Bcl-2 protein expression level, and increased Bax, Cyt-c, GRP78 and cleaved-caspase-4 expressions(P<0.01). In addition, 10 mmol/L 4-PBA treatment significantly promoted cell proliferation and reduced apoptosis(P<0.05), and 650 μg/mL asperuloside could reverse 4-PBA-induced increased cell proliferation, decreased apoptosis and cleaved-caspase-3,-4 and GRP78 protein expressions(P<0.05). Conclusion: Our study revealed the role of asperuloside in cervical cancer, suggesting that asperuloside promotes apoptosis of cervical cancer cells through ER stress-mitochondrial pathway.

关键词： asperuloside Chinese medicine cervical cancer endoplasmic reticulum stress mitochondrial damage apoptosis

A regularization algorithm of dynamic light scattering for estimating the particle size distribution of dual-substance mixture in water

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Particuology 2024年第6期89卷 246-257页

作者： Yanghong Wang Ziqiang Meng Zipei Zhang min xia Li xia Wei Li School of Optical and Electronic Information Huazhong University of Science and TechnologyWuhan 430074China

Dynamic light scattering(DLS)is a nondestructive,well-established technique for the size characterization of proteins,nanoparticles,polymers,and colloidal ***,current DLS techniques are only applied to particle groups of single composition due to the limitation of their inversion *** this study,we propose a particle size distribution inversion algorithm based on the Tikhnonov regularization method that can be applied to the dual-substance particle *** algorithm retrieves the particle size distributions of two substances,respectively,by taking advantage of their refractive index *** simulation results reveal that the algorithm has excellent accuracy and stability when the scattering angle is 30°.Instead of the original identity matrix,the first-order difference matrix and second-order difference matrix are used as the regular matrix when utilizing the Tikhnonov algorithm,which obviously improves the anti-interference,accuracy,and stability of the ***,the inversion of particle size distribution is carried out at a 0.01%–1%noise level,which shows that the algorithm has an available antinoise ***,experimental particle size measurements for a mixture of polystyrene beads and toner particles demonstrate that the proposed algorithm is superior to the traditional Tikhnonov algorithm in applicability and accuracy.

关键词： Dynamic light scattering Dual-substance mixture Particle sized istribution Tikhnonov regularization

Boosting ammonia production in electrocatalytic NO_(x)reduction on a robust Fe/FeMoO_(4)catalyst

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Nano Research 2024年第7期17卷 5801-5806页

作者： Dong-Xue Liu Xin Deng Yong-Fu Zhu Zhe Meng Xue-Feng Sun Miao-Miao Shi Hai-xia zhong Jun-min Yan Key Laboratory of Automobile Materials Ministry of EducationSchool of Materials Science and EngineeringJilin UniversityChangchun 130022China State Key Laboratory of Rare Earth Resource Utilization Changchun Institute of Applied ChemistryChinese Academy of SciencesChangchun 130022China

Electrocatalytic reduction of nitrate(NO_(3)^(−))and nitride(NO_(2)^(−))to ammonia(NH3)is of wide interest as a promising alternative to the energy-intensive Haber-Bosch route for mitigating the vast energy consumption and the accompanied carbon dioxide emission,as well as benefiting for the relevant sewage ***,exploring an efficient and low-cost catalyst with high atomic utilization that can effectively facilitate the slow multi-electron transfer process remains a grand ***,we present an efficient hydrogenation of NO_(3)^(−)/NO_(2)^(−)species to NH3 in both alkaline and neutral environments over the Fe_(2)(MoO_(4))_(3)derived hybrid electrocatalyst with the metallic Fe site on FeMoO_(4)(Fe/FeMoO_(4)).The Mo ingredient can play a synergistically positive role in further promoting the NH_(3) production on *** a result,Fe/FeMoO_(4)behaves well in the electrochemical NH_(3) generation from NO_(2)^(−)with a maximum NH_(3) Faradaic efficiency(FE)of 96.53%and 87.68%in alkaline and neutral electrolyte,corresponding to the NH_(3) yield rate of 640.68 and 302.56 mg·h^(−1)·mg_(cat.)^(−1),respectively,which outperforms the Fe and Mo counterpart and other similar catalyst,showing the robust catalytic capacity of each active site.

关键词： ammonia synthesis NO_(x)reduction synergistic effect alkaline/neutral electrolyte

Naked-eye visualization of lymph nodes using fluorescence nanoprobes in non-human primate-animal models

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Nano Research 2024年第8期17卷 7404-7414页

作者： xiaoyuan Ji Binbin Chu xiaofeng Wu Zhiming xia Airui Jiang Chenyu Wang Zhiming Chen Danni zhong Qiaolin Wei Bin Song Wanlin Li Yiling zhong Houyu Wang Fenglin Dong min Zhou Yao He Suzhou Key Laboratory of Nanotechnology and Biomedicine Jiangsu Key Laboratory for Carbon-Based Functional Materials&DevicesInstitute of Functional Nano and Soft Materials(FUNSOM)Soochow UniversitySuzhou 215123China School of Public Health Shanghai Jiao Tong University School of MedicineShanghai 200025China Zhejiang University-University of Edinburgh Institute(ZJU-UoE Institute) Zhejiang UniversityHaining 314400China Department of Ultrasound the First Affiliated Hospital of Soochow UniversitySuzhou 215006China State Key Laboratory(SKL)of Biobased Transportation Fuel Technology Zhejiang UniversityHangzhou 310027China School of Pharmacy Hangzhou Normal UniversityHangzhou 311121China Macao Translational Medicine Center Macao University of Science and TechnologyTaipa 999078MacaoChina Macao Institute of Materials Science and Engineering Macao University of Science and TechnologyTaipa 999078MacaoChina

Despite sufficient studies performed in non-primate animal models,there exists scanty information obtained from pilot trials in non-human primate animal models,severely hindering nanomaterials moving from basic research into clinical *** herein present a pioneering demonstration of nanomaterials based optical imaging-guided surgical operation by using macaques as a typical kind of non-human primate-animal ***,taking advantages of strong and stable fluorescence of the small-sized(diameter:~5 nm)silicon-based nanoparticles(SiNPs),lymphatic drainage patterns can be vividly visualized in a real-time manner,and lymph nodes(LN)are able to be sensitively detected and precisely excised from small animal models(e.g.,rats and rabbits)to non-human primate animal models(e.g.,cynomolgus macaque(Macaca fascicularis)and rhesus macaque(Macaca mulatta)).Compared to clinically used invisible near-infrared(NIR)lymphatic tracers(i.e.,indocyanine green(ICG);etc.),we fully indicate that the SiNPs feature unique advantages for naked-eye visible fluorescence-guided surgical operation in long-term *** toxicological analysis in macaque models further provides confirming evidence of favorable biocompatibility of the SiNPs *** expect that our findings would facilitate the translation of nanomaterials from the laboratory to the clinic,especially in the field of cancer treatment.

关键词： fluorescent silicon nanoparticles lymph node real-time naked-eye visualization macaque models

Electroencephalogram findings in 10 patients with post-stroke epilepsy:A retrospective study

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World Journal of Clinical Cases 2024年第2期12卷 249-255页

作者： Li-min Wen Ran Li Yan-Ling Wang Qing-xia Kong min xia Clinical Medicine College Jining Medical UniversityJining 272067Shandong ProvinceChina School of Basic Medical Sciences Shandong UniversityJinan 250012Shandong ProvinceChina Department of Neurology The Affiliated Hospital of Jining Medical UniversityJining 272007Shandong ProvinceChina

BACKGROUND Post-stroke epilepsy is a common and easily overlooked complication of acute cerebrovascular ***-term seizures can seriously affect the prognosis and quality of life of ***(EEG)is the simplest way to diagnose epilepsy,and plays an important role in predicting seizures and guiding *** To explore the EEG characteristics of patients with post-stroke epilepsy and improve the detection rate of inter-seizure epileptiform *** From January 2017 to June 2020,10 patients with post-stroke epilepsy in our hospital were *** clinical,imaging,and EEG characteristics were *** stroke location,seizure type,and ictal and interictal EEG manifestations of the patients with post-stroke epilepsy were then retrospectively *** In all 10 patients,epileptiform waves occurred in the side opposite to the stroke lesion during the interictal stage;these manifested as sharp wave,sharp-wave complex,or spike discharges in the anterior head lead of the side opposite to the *** In EEG,epileptiform waves can occur in the side opposite to the stroke lesion in patients with post-stroke epilepsy.

关键词： Post-stroke epilepsy Electroencephalogram Seizure Stroke Slow wave

Pallister-Killian syndrome： meiosis Ⅱ non-disjunction may be the first step in the formation of isochromosome 12p

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Chinese Medical Journal 2010年第23期123卷 3482-3485页

作者： SHEN Jian-dong LIANG De-sheng ZHOU zhong-min xia Yan LONG Zhi-gao WU Ling-qian State Key Laboratory of Medical Genetics of China Central SouthUniversity Changsha Hunan 410078 China

Pallister-Killian syndrome （PKS） is a rare and sporadic genetic disorder due to tissue-limited mosaicism for supernumerary isochromosome 12p（i（12p））, which is usually absent or at low-level mosaicism in cultured lymphocytes but present in fibroblasts. PKS was first described in adults by Pallister in 19771 and later in children by Killian and Teschler-Nicola in 1981.2 An accurate incidence is unknown. It is clinically characterized by profound mental retardation, seizures,hypotonia, supernumerary nipples, pigmentary dysplasia,diaphragmatic hernia, ＂coarse＂ face, including prominent forehead with sparse anterior scalp hair, hypertelorism,short nose with anteverted nares, flat nasal bridge, long philtrum, cleft palate and short neck. Here we report a patient with PKS, who is the first confirmed case with PKS in China's Mainland. Molecular analysis was performed to explore the formation mechanism of i（12p）.The results suggest that the maternal meiosis Ⅱ sister chromatid non-disjunction was likely the first step in the formation of i（12p）, followed by postzygotic mitotic centromeric misdivision.

关键词： Pallister-Killian syndrome SNP oligonucleotide array copy number analysis short tandem repeat polymorphism fluorescence in situ hybridization meiotic non-disjunction

YOLOv5ST:A Lightweight and Fast Scene Text Detector

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Computers, Materials & Continua 2024年第4期79卷 909-926页

作者： Yiwei Liu Yingnan Zhao Yi Chen Zheng Hu min xia School of Computer and Science Nanjing University of Information Science and TechnologyNanjing210044China School of Automation Nanjing University of Information Science and TechnologyNanjing210044China

Scene text detection is an important task in computer *** this paper,we present YOLOv5 Scene Text(YOLOv5ST),an optimized architecture based on YOLOv5 v6.0 tailored for fast scene text *** primary goal is to enhance inference speed without sacrificing significant detection accuracy,thereby enabling robust performance on resource-constrained devices like drones,closed-circuit television cameras,and other embedded *** achieve this,we propose key modifications to the network architecture to lighten the original backbone and improve feature aggregation,including replacing standard convolution with depth-wise convolution,adopting the C2 sequence module in place of C3,employing Spatial Pyramid Pooling Global(SPPG)instead of Spatial Pyramid Pooling Fast(SPPF)and integrating Bi-directional Feature Pyramid Network(BiFPN)into the *** results demonstrate a remarkable 26%improvement in inference speed compared to the baseline,with only marginal reductions of 1.6%and 4.2%in mean average precision(mAP)at the intersection over union(IoU)thresholds of 0.5 and 0.5:0.95,*** work represents a significant advancement in scene text detection,striking a balance between speed and accuracy,making it well-suited for performance-constrained environments.

关键词： Scene text detection YOLOv5 lightweight object detection

A new fluorocarbon adhesive:Inhibiting agglomeration during combustion of propellant via efficient F-Al_(2)O_(3) preignition reaction

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Carbon Energy 2024年第6期6卷 292-305页

作者： Qifa Yao min xia Chao Wang Fanzhi Yang Wei Yang Yunjun Luo School of Materials Science and Engineering Beijing Institute of TechnologyBeijingChina Key Laboratory of High Energy Density Materials Ministry of EducationBeijing Institute of TechnologyBeijingChina School of Aerospace Engineering Beijing Institute of TechnologyBeijingChina Advanced Research Institute of Multidisciplinary Science Beijing Institute of TechnologyBeijingChina

Inhibiting the agglomeration of molten aluminum particles packed in the binder network is a promising scheme to achieve efficient combustion of solid *** this investigation,the hydroxyl-terminated structured fluorinated alcohol compound(PFD)was introduced to modify the traditional polyethylene glycol/polytetrahydrofuran block copolymerization(HTPE)binder;that is,a unique fluorinated polyether(FTPE)binder was synthesized by embedding fluorinated organic segments into the HTPE binder via crosslinking *** FTPE was applied in aluminum-based propellants for the first *** to the complete release of fluorinated organic active segments in the range of 300℃to 400℃,the burning rate of FTPEbased propellant increased from 4.07(0%PFD)to 6.36 mm/s(5%PFD),increased by 56.27%under 1 *** reaction heat of FTPE propellants increased from 5.95(0%PFD)to 7.18 MJ/kg(5%PFD)under 3.0 MPa,indicating that HTPE binder modified with PFD would be conducive to inhibiting the D90 of condensed combustion products(CCPs)dropped by 81.84%from 75.46(0%PFD)to 13.71μm(5%PFD)under 3.0 MPa,in consistent with the significant reduction of aluminum agglomerates observed on the quenched burning surface of the *** results demonstrated that a novel FTPE binder with PFD can release fluorinated organic active segments,which motivate preignition reaction with the alumina shell in the early stage of aluminum combustion,and then enhance the melting diffusion effect of aluminum to inhibit the agglomeration.

关键词： agglomeration characteristics aluminum particles combustion fluorine alcohol compounds HTPE propellants