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A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2

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Chinese Medical Journal 2021年第22期134卷 2753-2755页

作者： Liang-Liang Qiu Xiao-Dan Lin Guo-Rong Xu Li-Li Wang zhi-xian ye Feng Lin Hai-Zhu Chen Min-Ting Lin Nai-Qing Cai Ming Jin Liu-Qing Xu Wei Hu Ning Wang zhi-Qiang Wang Department of Neurology Institute of NeurologyThe First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350005China Fujian Key Laboratory of Molecular Neurology FuzhouFujian 350005China

To the Editor:Facioscapulohumeral muscular dystrophy type 2(FSHD2)is an epigenetic myopathy caused by variants in genes encoding chromatin regulators,such as SMCHD1:these variants lead to derepression of the D4Z4-encoded DUX4 retrogene in skeletal muscle.[1]The core phenotype of FSHD is progressive muscle weakness in such body parts as the face,shoulder girdle,and upper ***,FSHD may affect the axial muscles and produce bent spine *** studies have reported that FSHD2 is associated with causative variants in SMCHD1,[1,2]but to the best of our knowledge,no Chinese FSHD2 patient has been *** this report,we presented a Chinese FSHD2 family with D4Z4 hypomethylation and identified a novel start codon variant(c.1 A>G)in *** study was approved by the Ethics Committee for Medical Research of the First Affiliated Hospital of Fujian Medical University(No.2016[17]).Informed consent was obtained from each partici-pant and parent of the participant younger than 18 years of age.

关键词： dystrophy muscular younger

Real-world evidence on the efficacy and safety of vonoprazanamoxicillin dual therapy for Helicobacter pylori treatment in elderly patients

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World Journal of Gastroenterology 2025年第1期31卷 68-78页

作者： Wen Gao Jing-Wen Li Hui ye Xue-zhi Zhang Jian-xiang Liu Hong Cheng Department of Gastroenterology Peking University First HospitalBeijing 100034China School of Medicine Tsinghua MedicineTsinghua UniversityBeijing 100034China Department of Traditional Chinese Medicine and Integrative Medicine Peking University First HospitalBeijing 100034China

BACKGROUND A dual therapy regimen containing amoxicillin is a common treatment option for the eradication of Helicobacter pylori(***).While substantial research supports the efficacy and safety of vonoprazan and amoxicillin(VA)dual therapy in the general population,there is still a lack of studies specifically focusing on its safety in elderly *** To evaluate efficacy and safety of VA dual therapy as first-line or rescue treatment for *** in elderly *** As a real-world retrospective study,data were collected from elderly patients aged 60 years and above who accepted VA dual therapy(vonoprazan 20 mg twice daily+amoxicillin 1000 mg thrice daily for 14 days)for *** eradication in the Department of Gastroenterology at Peking University First Hospital between June 2020 and January *** status was evaluated by^(13)C-urease breath test 6 weeks after *** adverse events(AEs)during treatment were *** In total,401 cases were ***-one cases were excluded due to loss to follow-up,lack of re-examination,or unwillingness to take *** total of 380 included cases comprised 250 who received VA dual therapy as first-line treatment and 130 who received VA dual therapy as rescue *** was successfully eradicated in 239 cases(95.6%)in the first-line treatment group and 116 cases(89.2%)in the rescue treatment *** overall incidence of AEs was 9.5%for both ***,9.2%of patients experienced an AE in the first-line treatment group and 10.0%in the rescue treatment *** patients discontinued treatment due to AE,with a discontinuation rate of 1.3%.No serious AE *** The VA dual therapy regimen as a first-line treatment and a rescue therapy was effective and safe for elderly patients aged 60 and older.

关键词： Helicobacter pylori Vonoprazan Amoxicillin Dual therapy Elderly

Scattering of Water Waves by Dual Symmetric Inclined Floating Porous Barriers Using the DBEM

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China Ocean Engineering 2024年第1期38卷 156-168页

作者： WANG Li-xian DENG Yan-wen ye Yang-sha DENG Zheng-zhi Key Laboratory of High Performance Ship Technology(Wuhan University of Technology) Ministry of EducationWuhan 430063China School of Naval Architecture Ocean and Energy Power EngineeringWuhan University of TechnologyWuhan 430063China Key Laboratory of Water-Sediment Sciences and Water Disaster Prevention of Hunan Province Changsha 410114China Institute of Port Coastal and Offshore EngineeringZhejiang UniversityZhoushan 316021China

The scattering of normally incident water waves by two surface-piercing inclined perforated barriers in water with a uniform finite depth is investigated within the framework of linear water wave *** that thin barriers are zero-thickness,a novel numerical method involving the the coupling of the dual boundary element method(DBEM)with damping layers is *** order to effectively damp out the reflected waves,two damping layers,instead of pseudoboundaries are implemented near the two side boundaries of the computational ***,the modified linearized free surface boundary conditions are formulated and used for solving both the ordinary boundary integral equation as well as the hypersingular boundary integral equation for degenerate *** newly developed numerical method is validated against analytical methods using the matched eigenfunction expansion method for the special case of two vertical barriers or the inclined angle to the vertical being *** influence of the length of the two damping layers has been ***,these findings are also validated against previous results for several *** validation,the numerical results for the reflection coefficient,transmission coefficient and dissipation coefficient are obtained by varying the inclination angle and porosity-effect *** effects of both the inclination angle and the porosity on the amplitudes of wave forces acting on both the front and rear barriers are also *** is found that the effect of the inclination angle mainly shifts the location of the extremal values of the reflection and the transmission ***,a moderate value of the porosity-parameter is quite effective at dissipating wave energy and mitigating the wave loads on dual barriers.

关键词： dual boundary element method inclined perforated floating breakwater reflection coefficient transmission coefficient damping layer

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经皮椎体成形术治疗老年骨质疏松性椎体骨折

实用放射学杂志 2008年第8期24卷 1108-1111页

作者：江朝根吴渭贤叶志伟朱希松徐德洪浙江省衢州市人民医院放射科浙江省衢州市人民医院骨二科

目的探讨经皮椎体成形术(PVP)治疗老年骨质疏松性椎体骨折的价值。方法27例老年骨质疏松症患者共33节椎体骨折,均经MRI、CT及平片证实。在透视监视下经椎弓根行椎体穿刺,注入粉(g):液(ml):硫酸钡粉(g)为15:10:3的聚甲基丙烯酸甲酯(PMMA)... 详细信息

目的探讨经皮椎体成形术(PVP)治疗老年骨质疏松性椎体骨折的价值。方法27例老年骨质疏松症患者共33节椎体骨折,均经MRI、CT及平片证实。在透视监视下经椎弓根行椎体穿刺,注入粉(g):液(ml):硫酸钡粉(g)为15:10:3的聚甲基丙烯酸甲酯(PMMA),术后即刻摄X线正侧位片,1d后CT观察PMMA分布渗漏状况,定期观察疗效和椎体高度。结果PVP技术成功率100%,PMMA平均注入量4.6ml(2.3~7.5ml),术后1d CT证实椎体周围PMMA少量渗漏7节,但无临床症状。术后1d,所有病例腰背部疼痛明显减轻,平均随访8个月,疼痛均无复发,椎体高度无进一步塌陷。结论PVP对治疗老年骨质疏松性椎体骨折所致的腰背疼痛是有效的。

关键词：椎体成形术聚甲基丙烯酸甲酯骨质疏松骨折

Yang-Lee Circle Theorem for an Antiferromagnetic Heisenberg Ladder

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Chinese Physics Letters 2001年第7期18卷 953-954页

作者： WANG xian-zhi Department of Physics Shanghai Jiao Tong UniversityShanghai 200030

The Yang-Lee zeros of an antiferromagnetic Heisenberg ladder model are *** is found that if J_(4)≤0 Yang-Lee zeros are located on the unit circle and on the negative real axis in the complex activity *** particular,if J_(4)≤0 and 2J_(2)≥J_(4),Yang-Lee zeros are located on the unit circle and Yang-Lee circle theorem is *** J_(4)>0,Yang Lee zeros are locted on some complicated curves.

关键词： Heisenberg circle plane.

Identifying the spatiotemporal characteristics of individual red bed landslides: a case study in Western Yunnan, China

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Journal of Mountain Science 2022年第6期19卷 1748-1766页

作者： ZHAO Xin LI Guo ZHAO zhi-fang LI Chun-xiao CHEN Qi ye xian Institute of International Rivers and Eco-Security Yunnan UniversityKunming 650050China Broadvision Engineering Consultants Co. Ltd.Kunming 650031China Yunnan Key Laboratory of Digital Communications Kunming 650000China School of Earth Sciences Yunnan UniversityKunming 650050China Research Center of Domestic High-resolution Satellite Remote Sensing Geological Engineering Kunming 650500China MNR Key Laboratory ofSanjiang Metallogeny and Resources Exploration&Utilization Kunming 650051China

Strata in red bed areas have typical characteristics of soft-hard interbedding and high sensitivity to water. Under the comprehensive action of internal stratigraphic structure and external hydrological factors, red bed landslides have highly complex spatiotemporal characteristics, presenting significant challenges to the prevention and control of landslide disasters in red bed areas, especially for slope and tunnel engineering projects. In this study, we applied an interdisciplinary approach combining small baseline subset interferometric synthetic aperture radar(SBAS-InSAR), deep displacement monitoring, and engineering geological surveying to identify the deformation mechanisms and spatiotemporal characteristics of the Abi landslide, an individual landslide that occurred in the red bed area of Western Yunnan, China. Surface deformation time series indicated that a basic deformation range developed by March 2020. Based on In SAR results and engineering geological analysis, the landslide surface could be divided into three zones: an upper sliding zone(US), a lower uplifted zone(LU), and a toe zone(Toe). LU was affected by the structure of the sliding bed with variable inclination. Using deep displacement curves combined with the geological profile, a set of sliding surfaces were identified between different lithology. The groundwater level standardization index(GLSI) and deformation normalization index(DNI) showed different quadratic relationships between US and LU. Verification using the Pearson correlation analysis shows that the correlation coefficients between model calculated results and measured data are 0.7933 and 0.7577, respectively, indicating that the DNI-GLSI models are applicable. A fast and short-lived deformation sub stage(ID-Fast) in the initial deformation stage was observed, and ID-Fast was driven by concentrated rainfall.

关键词： Red bed landslide Spatiotemporal characteristic SBAS-InSAR Deep displacement monitoring Engineering geological survey Western Yunnan

Recent advances of hydrogen production through particulate semiconductor photocatalytic overall water splitting

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Frontiers in Energy 2022年第1期16卷 49-63页

作者： zhi JIANG Zhen ye Wenfeng SHANGGUAN Research Center for Combustion and Environment Technology Shanghai Jiao Tong UniversityShanghai 200240China

Solar energy-driven photocatalytic water splitting has been investigated for decades to produce clean and renewable green *** this paper,the cutting-edge research within the overall water splitting system is summarized from the one-step photocatalytic overall water splitting(POWS)system to the two-step system and the cocatalysts research in this *** addition,the photocatalytic reaction engineering study is also reviewed which is crucial for future *** mini-review provides a picture of survey of recent progress of relevant overall water splitting system,with particular attention paid to material system and mechanistic breakthroughs,and highlights the challenge and opportunity of the current system.

关键词： photocatalysis overall water splitting hydrogen

Multi-harmonic forced vibration and resonance of simple beams to moving vehicles

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Frontiers of Structural and Civil Engineering 2023年第7期17卷 981-993页

作者： zhi SUN Limin SUN ye XIA State Key Laboratory for Disaster Reduction in Civil Engineering Shanghai 200092China Department of Bridge Engineering Tongji UniversityShanghai 200092China

This study modeled the moving-vehicle-induced forcing excitation on a single-span prismatic bridge as a multiple frequency-multiplication harmonic load on the modal coordinates of a linear elastic simple Euler–Bernoulli beam,and investigated the forced modal oscillation and resonance behavior of this type of dynamic *** forced modal responses consist of multiple frequency-multiplication steady-state harmonics and one damped mono-frequency complementary *** analysis revealed that a moving load induces high-harmonic forced resonance amplification when the moving speed is *** verify the occurrence of high-harmonic forced resonance,numerical tests were conducted on single-span simple beams based on structural modeling using the finite element method(FEM)and a moving sprung-mass oscillator vehicle *** forced resonance amplification characteristics of the fundamental mode for beam response estimation are presented with consideration to different end restraint *** results reveal that the high-harmonic forced resonance may be significant for the investigated beams subjected to vehicle loads moving at specific low *** the investigated single-span simple beams,the moving vehicle carriage heaving oscillation modulates the beam modal frequency,but does not induce notable variation of the modal oscillation harmonic structure for the cases that vehicle of small mass moves in low speed.

关键词： forced vibration linear Euler beam moving load harmonic structure frequency modulation end restraints

PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes

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World Journal of Pediatrics 2024年第1期20卷 82-91页

作者： Han Zhang Kai Gao Shuang Wang Yue-Hua Zhang zhi-xian Yang ye Wu Yu-Wu Jiang Department of Pediatrics Peking University First Hospital.No.1 Xi'an Men StreetWest DistrictBeijing 100034China Bejing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases BeijingChina Children Epilepsy Center Peking University First HospitalBeijingChina Key Laboratory for Neuroscience Ministry of Education/National Health and Family Planning CommissionPeking UniversityBeijingChina Center of Epilepsy Beijing Institute for Brain DisordersBeijingChina

Background The PACS gene family has been demonstrated to be related to intracellular vesicular *** phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy,intellectual disability/developmental delay,and malformations,such as facial *** We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation *** information obtained from these patients was analyzed along with that obtained from previously reported *** With the inclusion of the newly diagnosed cases in this study,103 cases with PACS gene family-related neurological diseases were reported,of which 43 were PACS2-related cases and the remaining were PACSI-related *** patients had seizures,which have been reported to be effectively controlled by several types of anti-seizure medications(ASMs).The most efficacious and frequently prescribed ASMs included sodium valproate(43.3%,13/30),oxcarbazepine/carbamazepine(26.7%,8/30),and levetiracetam(20%,6/30).Almost all patients had intellectual disability/developmental *** most common pathogenic missense variants were PACSI ***203Trp and PACS2 *** addition,we report a patient carrying a likely pathogenic copy number variation(CNV)(de novo heterozygous deletion of chr14:105821380-106107443,286 kilobase,destroyed part of the furin-binding region domain and the protein structure after it)with more severe and refractory late-onset *** The clinical phenotypes of the different PACS heterozygous missense variants were *** pathogenic variant sites of PACSI and PACS2 were quite limited but located in different regions.A CNV destroying part of the PACS2 gene might also be *** findings may provide an important clue for further functional studies on the pathogenic mechanism of neurological disorders related to the PACS gene family.

关键词： Developmental delay Epilepsy Intellectual disability PACSI PACS2