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Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report

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World Journal of Clinical Cases 2024年第14期12卷 2445-2450页

作者： jing Yuan Xiang-ming yan Department of Pediatric Children’s Hospital of Soochow UniversitySuzhou 215025Jiangsu ProvinceChina Department of Surgery Children's Hospital of Soochow UniversitySuzhou 215000Jiangsu ProvinceChina

BACKGROUND We report a rare case of primary clinical presentation featuring elevated creatine kinase(CK)levels in a neonate,which is associated with the LAMA2 *** this case,a heterozygous mutation in exon5 of the LAMA2 gene,c.715C>G(resulting in a change of nucleotide number 715 in the coding region from cytosine to gua-nine),induced an amino acid alteration p.R239G(No.239)in the patient,repre-senting a missense *** observation may be elucidated by the neonatal creatine monitoring mechanism,a phenomenon not previously *** SUMMARY We analysed the case of a neonate presenting solely with elevated CK levels who was eventually discharged after supportive *** chief complaint was identification of increased CK levels for 15 d and higher CK values for 1 ***-mission occurred at 18 d of age,and despite prolonged treatment with creatine and vitamin C,the elevated CK levels showed limited *** exo-me sequencing revealed the presence of a c.715C>G mutation in LAMA2 in the newborn,correlating with a clinical ***,the available informa-tion offers insufficient evidence for clinical *** Mutations in LAMA2 are associated with the clinical phenotype of increased neonatal CK levels,for which no specific treatment *** genome sequen-cing facilitates early diagnosis.

关键词： Creatine kinase LAMA2 Gene mutation Neonate Case report

Effect of temperature and reaction path interaction on fluidization reduction kinetics of iron ore powder

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Journal of Iron and Steel Research International 2024年第8期31卷 1840-1849页

作者： Guo-min Zhu ming-wei Hu An-nan Dou Jin-yu Huang jing Ding Qi-yan Xu School of Metallurgical Engineering Anhui University of TechnologyMa'anshan 243002AnhuiChina

Due to the instability of FeO at temperatures below 843 K,the fuidization reduction pathway of iron ore powder changes with the reduction ***,the effect of temperature and reaction pathway interaction on the kinetics of fuidization reduction of iron ore powder under low-temperature conditions ranging from 783 to 903 K was investigated to describe the fluidization reduction rate of iron ore powder from three aspects:microstructure change,reaction limiting link,and apparent activation energy of the reaction,exploring their internal *** experimental results revealed that in a temperature range of 783-813 K,the formation of a dense iron layer hindered the internal diffusion of reducing gas,resulting in relatively high gas diffusion *** addition,due to the differences in limiting links and reaction pathways in the intermediate stage of reduction,the apparent activation energy of the reaction *** apparent activation energy of the reaction ranged from 23.36 to 89.13 kJ/mol at temperature ranging from 783 to 813 K,while it ranged from 14.30 to 68.34 kJ/mol at temperature ranging from 873 to 903 K.

关键词： Reaction limiting link Gas internal diffusion Interface reaction Apparent activation energy Iron ore powder Reaction pathway Fluidization reduction

Banxia Xiexin Decoction Alleviated Cerebral Glucose Metabolism Disorder by Regulating Intestinal Microbiota in APP/PS1 Mice

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Chinese Journal of Integrative Medicine 2024年第8期30卷 701-712页

作者： GAO Chen-yan QIN Gao-feng ZHENG ming-cui TIAN Mei-jing HE yan-nan WANG Peng-wen Key Laboratory of Chinese Internal Medicine of Ministry of Education and Beijing Dongzhimen HospitalBeijing University of Chinese MedicineBeijing100700China Neurology Department Binzhou Medical University HospitalBinzhouShandong Province256603China

Objective To identify whether Banxia Xiexin Decoction(BXD)alleviates cerebral glucose metabolism disorder by intestinal microbiota regulation in APP/PS1 *** Forty-five 3-month-old male APP/PS1 mice were divided into 3 groups using a random number table(n=15 per group),including a model group(MG),a liraglutide group(LG)and a BXD group(BG).Fifteen 3-month-old male C57BL/6J wild-type mice were used as the control group(CG).Mice in the BG were administered BXD granules by gavage at a dose of 6 g/(kg·d)for 3 months,while mice in the LG were injected intraperitoneally once daily with Liraglutide Injection(25 nmol/kg)for 3 ***,liquid chromatography with tandem-mass spectrometry was used to analyze the active components of BXD granules and the medicated serum of ***,the cognitive deficits,Aβpathological change and synaptic plasticity markers,including synaptophysin(SYP)and postsynaptic density protein 95(PSD95),were measured in APP/PS1 *** glucose uptake was detected by micropositron emission *** microbial constituents were detected by 16S rRNA *** levels of intestinal glucagon-like peptide 1(GLP-1)and cerebral GLP-1 receptor(GLP-1R),as well as the phosphoinositide-3-kinase/protein kinase B/glycogen synthase kinase-3β(PI3K/Akt/GSK3β)insulin signaling pathway were determined by immunohistochemical(IHC)staining and Western blot analysis,*** BXD ameliorated cognitive deficits and Aβpathological features(P<0.01).The expressions of SYP and PSD95 in the BG were higher than those in the MG(P<0.01).Brain glucose uptake in the BG was higher than that in the MG(P<0.01).The intestinal microbial composition in the BG was partially *** levels of intestinal GLP-1 in the BG were higher than those in the MG(P<0.01).Compared with the MG,the expression levels of hippocampal GLP-1R,Akt,PI3K and p-PI3K in the BG were significantly increased(P<0.01),while the levels of GSK3βwere reduced(P<0.01).Conclusion BXD

关键词： Banxia Xiexin Decoction Alzheimer's disease intestinal microbiota glucagon-like peptide 1 cerebral insulin resistance phosphoinositide-3-kinase/proteinkinase B/glycogen synthase kinase-3β Chinese medicine

Bolstering the Mechanical Robustness of Supramolecular Polymer Network by Mechanical Bond

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Chinese Journal of Polymer Science 2024年第10期42卷 1536-1544,I0012页

作者： Yuan-Hao Wang jing-Xi Deng Jun Zhao Yi Ding Li yang Zhao-ming Zhang Xu-Zhou yan School of Chemistry and Chemical Engineering Shanghai Jiao Tong UniversityShanghai200240China Frontiers Science Center for Transformative Molecules Shanghai Jiao Tong UniversityShanghai200240China

Supramolecular polymer networks(SPNs)are celebrated for their dynamic nature,yet they often exhibit inadequate mechanical *** far,the quest to bolster the mechanical resilience of SPNs while preserving their dynamic character presents a formidable ***,we introduce[2]rotaxane into SPN to serve as another cross-link,which could effectively enhance the mechanical robustness of the polymer network without losing the dynamic *** with SPN,the dually cross-linked network(DPN)demonstrates superior breaking strength,Young’s modulus,puncture force and toughness,underscoring its superior ***,the cyclic tensile tests reveal that the energy dissipation capacity of DPN rivals,and in some cases surpasses,that of SPN,owing to the efficient energy dissipation pathway facilitated by[2]*** addition,benefiting from stable topological structure of[2]rotaxane,DPN exhibits accelerated recovery from deformation,indicating superior elasticity compared to *** strategy elevates the performance of SPNs across multiple metrics,presenting a promising avenue for the development of high-performance dynamic materials.

关键词： Rotaxane cross-links Dually cross-linked network Supramolecular polymer network Host-guest recognition Dynamic materials

Production induced fracture closure of deep shale gas well under thermo-hydro-mechanical conditions

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Petroleum Science 2024年第3期21卷 1796-1813页

作者： Shi-ming Wei yang Xia yan Jin Xu-yang Guo jing-Yu Zi Kai-Xuan Qiu Si-Yuan Chen College of Science China University of Petroleum(Beijing)Beijing102249China CNOOC Research Institute Ltd Beijing100028China The University of Hong Kong Hong Kong999077China

Deep shale gas reservoirs have geological characteristics of high temperature,high pressure,high stress,and inferior ability to pass through *** multi-stage fractured horizontal well is the key to exploiting the deep shale gas ***,during the production process,the effectiveness of the hydraulic fracture network decreases with the closure of fractures,which accelerates the decline of shale gas *** this paper,we addressed the problems of unclear fracture closure mechanisms and low accuracy of shale gas production prediction during deep shale gas *** we established the fluid—solid—heat coupled model coupling the deformation and fluid flow among the fracture surface,proppant and the shale *** the fluid—solid—heat coupled model was applied to the fracture network,it was well solved by our numerical method named discontinuous discrete fracture *** with the conventional discrete fracture method,the discontinuous discrete fracture method can describe the three-dimensional morphology of the fracture while considering the effect of the change of fracture surface permeation coefficient on the coupled fracture—matrix flow and describing the displacement discontinuity across the *** simulations revealed that the degree of fracture closure increases as the production time proceeds,and the degree of closure of the secondary fractures is higher than that of the primary *** creep and proppant embedment both increase the degree of fracture *** reduction in fracture surface permeability due to proppant embedment reduces the rate of fluid transfer between matrix and fracture,which has often been overlooked in the ***,it significantly impacts shale gas production,with calculations showing a 24.7%cumulative three-year yield *** study is helpful to understand the mechanism of hydraulic fracture ***,it provides the theoretical guidance for maintaining the long

关键词： Shalegas Fracture closure Fluid-solid-heat coupling Discontinuous discrete fracture

Synergistic catalysis of the N-hydroxyphthalimide on flower-like bimetallic metal-organic frameworks for boosting oxidative desulfurization

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Petroleum Science 2024年第1期21卷 674-682页

作者： jing He Kun Zhu Wei Jiang Dong-Ao Zhu Lin-Hua Zhu Hai-yan Huang Wen-Shuai Zhu Hua-ming Li Institute for Energy Research Jiangsu UniversityZhenjiang212013JiangsuChina College of Chemistry and Chemical Engineering Hainan Normal UniversityKey Laboratory of Water Pollution Treatment and Resource Reuse of Hainan ProvinceHaikou571158HainanChina

Synergic catalytic effect between active sites and supports greatly determines the catalytic activity for the aerobic oxidative desulfurization of fuel *** this work,Ni-doped Co-based bimetallic metal-organic framework(CoNi-MOF)is fabricated to disperse N-hydroxyphthalimide(NHPI),in which the whole catalyst provides plentiful synergic catalytic effect to improve the performance of oxidative desulfurization(ODS).As a bimetallic MOF,the second metal Ni doping results in the flower-like morphology and the modification of electronic properties,which ensure the exposure of NHPI and strengthen the synergistic effect of the overall *** with the monometallic Co-MOF and naked NHPI,the NHPI@CoNi-MOF triggers the efficient activation of molecular oxygen and improves the ODS performance without an *** sulfur removal of dibenzothiophene-based model oil reaches 96.4%over the NHPI@CoNi-MOF catalyst in 8 h of ***,the catalytic product of this aerobic ODS reaction is sulfone,which is adsorbed on the catalyst surface due to the difference in *** work provides new insight and strategy for the design of a strong synergic catalytic effect between NHPI and bimetallic supports toward high-activity aerobic ODS materials.

关键词： Metal-organic frameworks Doped Bimetallic N-hydroxyphthalimide Aerobic processes Oxidative desulfurization

Inetetamab combined with tegafur as second-line treatment for human epidermal growth factor receptor-2-positive gastric cancer: A case report

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World Journal of Clinical Cases 2024年第4期12卷 820-827页

作者： jing-Hao Zhou Qi-Jun Yi ming-yan Li yan Xu Qi Dong Cong-Ying Wang Hai-yan Liu Department of Oncology The Second Affiliated Hospital of Shandong First Medical UniversityTai’an 271000Shandong ProvinceChina

BACKGROUND Human epidermal growth factor receptor-2(HER-2)plays a vital role in tumor cell proliferation and ***,the prognosis of HER2-positive gastric cancer is ***,a novel anti-HER2 targeting drug independently developed in China,exhibits more potent antibody-dependent cell-mediated cytotoxicity than trastuzumab,which is administered as the first-line treatment for HER2-positive gastric cancer in combination with *** this case,the efficacy and safety of inetetamab combined with tegafur was investigated as a second-line treatment for HER2-positive gastric *** SUMMARY A 52-year-old male patient with HER2-positive gastric cancer presented with abdominal distension,poor appetite,and fatigue two years after receiving six cycles of oxaliplatin combined with tegafur as first-line treatment after surgery,followed by tegafur monotherapy for six *** patient was diagnosed with postoperative recurrence of gastric *** received 17 cycles of a combination of inetetamab,an innovative domestically developed anti-HER2 monoclonal antibody,and tegafur chemotherapy as the second-line treatment(inetetamab 200 mg on day 1,every 3 wk combined with tegafur twice daily on days 1–14,every 3 wk).Evaluation of the efficacy of the second-line treatment revealed that the patient achieved a stable condition and progression-free survival of 17 *** tolerated the treatment well without exhibiting any grade 3-4 adverse *** Inetetamab combined with chemotherapy for the treatment of metastatic HER2-positive gastric cancer demonstrates significant survival benefits and acceptable safety.

关键词： Inetetamab Gastric cancer Human epidermal growth factor receptor-2 protein Tegafur Case report

A Sampling-Based Method to Estimate the Volume of Solution Space for Linear Arithmetic Constraints

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Journal of Systems Science & Complexity 2024年

作者： XIE yan-Feng YUAN Chun-ming jing Rui-Juan KLMM Academy of Mathematics and Systems Science Chinese Academy of Sciences School of Mathematical Sciences University of Chinese Academy of Sciences School of Mathematical Sciences Jiangsu University

The linear arithmetic constraints play important roles in many research fields. Estimating the volume of their solution spaces has specific applications, such as programming verification, linear programming, polyhedral optimization, and so on. In this paper, the authors provide an efficient estimation for the volume of the solution space for linear arithmetic constraints. This method sums up the estimations for volumes of oblique cones centered along randomly generated rays. The error analysis is provided to improve the accuracy.

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Macroscopic and microscopic mechanical behavior and seepage characteristics of coal under hydro-mechanical coupling

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Journal of Central South University 2024年第8期31卷 2765-2779页

作者： Gao, ming-zhong Gao, Zheng yang, Ben-gao Xie, jing Wang, ming-yao Hao, Hai-chun Wu, yan Zhou, Lang Wang, jing-yu State Key Laboratory of Intelligent Construction and Healthy Operation and Maintenance of Deep Underground Engineering College of Civil and Transportation Engineering Shenzhen University Shenzhen China State Key Laboratory of Intelligent Construction and Healthy Operation and Maintenance of Deep Underground Engineering College of Water Resource & Hydropower Sichuan University Chengdu China State Key Laboratory of Coal Mining and Clean Utilization Beijing China China Railway Engineering Equipment Group Co. Ltd. Zhengzhou China Northwest Engineering Corporation Limited Xi’an China

Understanding the physical, mechanical behavior, and seepage characteristics of coal under hydro-mechanical coupling holds significant importance for ensuring the stability of surrounding rock formations and preventing gas outbursts. Scanning electron microscopy, uniaxial tests, and triaxial tests were conducted to comprehensively analyze the macroscopic and microscopic physical and mechanical characteristics of coal under different soaking times. Moreover, by restoring the stress path and water injection conditions of the protective layer indoors, we explored the coal mining dynamic behavior and the evolution of permeability. The results show that water causes the micro-surface of coal to peel off and cracks to expand and develop. With the increase of soaking time, the uniaxial and triaxial strengths were gradually decreased with nonlinear trend, and decreased by 63.31% and 30.95% after soaking for 240 h, respectively. Under different water injection pressure conditions, coal permeability undergoes three stages during the mining loading process and ultimately increases to higher values. The peak stress of coal, the deviatoric stress and strain at the permeability surge point all decrease with increasing water injection pressure. The results of this research can help improve the understanding of the coal mechanical properties and seepage evolution law under hydro-mechanical coupling.

关键词： coal water intrusion mechanical properties permeability macro and micro features