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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 gene.In 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 mutation.This observation may be elucidated by the neonatal creatine monitoring mechanism,a phenomenon not previously reported.CASE SUMMARY We analysed the case of a neonate presenting solely with elevated CK levels who was eventually discharged after supportive treatment.The chief complaint was identification of increased CK levels for 15 d and higher CK values for 1 d.Ad-mission occurred at 18 d of age,and despite prolonged treatment with creatine and vitamin C,the elevated CK levels showed limited improvement.Whole exo-me sequencing revealed the presence of a c.715C>G mutation in LAMA2 in the newborn,correlating with a clinical phenotype.However,the available informa-tion offers insufficient evidence for clinical pathogenicity.CONCLUSION Mutations in LAMA2 are associated with the clinical phenotype of increased neonatal CK levels,for which no specific treatment exists.Whole genome sequen-cing facilitates early diagnosis.

关键词： Creatine kinase LAMA2 Gene mutation Neonate Case report

MiR-142-3p Regulates ILC1s by Targeting HMGB1 via the NF-κB Pathway in a Mouse Model of Early Pregnancy Loss

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Current Medical Science 2024年第1期44卷 195-211页

作者： xiang-li PANG Jie LI jing WANG Si-si YAN jing YANG Department of Obstetrics and Gynecology Renmin Hospital of Wuhan UniversityWuhan 430060China Reproductive Medical Center Renmin Hospital of Wuhan UniversityWuhan 430060China Clinic Research Center for Assisted Reproductive Technology and Embryonic Development in Hubei Province Wuhan 430060China

Objective Innate lymphoid cells(ILCs)are a class of newly discovered immunocytes.Group 1 ILCs(ILC1s)are identified in the decidua of humans and mice.High mobility group box 1(HMGB1)is predicted to be one of the target genes of miR-142-3p,which is closely related to pregnancy-related diseases.Furthermore,miR-142-3p and HMGB1 are involved in regulating the NF-κB signaling pathway.This study aimed to examine the regulatory effect of miR-142-3p on ILC1s and the underlying mechanism involving HMGB1 and the NF-κB signaling pathway.Methods Mouse models of normal pregnancy and abortion were constructed,and the alterations of ILC1s,miR-142-3p,ILC1 transcription factor(T-bet),and pro-inflammatory cytokines of ILC1s(TNF-α,IFN-γand IL-2)were detected in mice from different groups.The targeting regulation of HMGB1 by miR-142-3p in ILC1s,and the expression of HMGB1 in normal pregnant mice and abortive mice were investigated.In addition,the regulatory effects of miR-142-3p and HMGB1 on ILC1s were detected in vitro by CCK-8,Annexin-V/PI,ELISA,and RT-PCR,respectively.Furthermore,changes of the NF-κB signaling pathway in ILC1s were examined in the different groups.For the in vivo studies,miR-142-3p-Agomir was injected in the uterus of abortive mice to evaluate the abortion rate and alterations of ILC1s at the maternal-fetal interface,and further detect the expression of HMGB1,pro-inflammatory cytokines,and the NF-κB signaling pathway.Results The number of ILC1s was significantly increased,the level of HMGB1 was significantly upregulated,and that of miR-142-3p was considerably downregulated in the abortive mice as compared with the normal pregnant mice(all P<0.05).In addition,miR-142-3p was found to drastically inhibit the activation of the NF-κB signaling pathway(P<0.05).The number of ILC1s and the levels of pro-inflammatory cytokines were significantly downregulated and the activation of the NF-κB signaling pathway was inhibited in the miR-142-3p Agomir group(all P<0.05).Conclusion miR-142-3p can regulate ILC1s by targeting HMGB1

关键词： maternal-fetal interface group 1 innate lymphoid cells(ILCis) high mobility group box 1(HMGB1) miR-142-3p abortion

Calcitonin gene-related peptide inhibits neuronal apoptosis in heatstroke rats via PKA/p-CREB pathway

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Chinese Journal of Traumatology 2024年第1期27卷 18-26页

作者： Jie Zhu Ya-Hong Chen jing-jing Ji Cheng-xiang Lu Zhi-Feng Liu Department of Pediatric General Hospital of Southern Theater Command of PLAGuangzhou510010China Department of Medical Intensive Care Unit General Hospital of Southern Theater Command of PLAGuangzhou510010China Department of Intensive Care Unit Zhongshan Hospital Xiamen UniversityXiamenFujian province361004China

Purpose:The incidence of heatstroke(HS)is not particularly high;however,once it occurs,the consequences are serious.It is reported that calcitonin gene-related peptide(CGRP)is protective against brain injury in HS rats,but detailed molecular mechanisms need to be further investigated.In this study,we further explored whether CGRP inhibited neuronal apoptosis in HS rats via protein kinase A(PKA)/p-cAMP response element-binding protein(p-CREB)pathway.Methods:We established a HS rat model in a pre-warmed artificial climate chamber with a temperature of(35.5±0.5)℃and a relative humidity of 60%±5%.Heatstress was stopped once core body temperature reaches above 41℃.A total of 25 rats were randomly divided into 5 groups with 5 animals each:control group,HS group,HS+CGRP group,HS+CGRP antagonist(CGRP8-37)group,and HS+CGRP+PKA/p-CREB pathway blocker(H89)group.A bolus injection of CGRP was administered to each rat in HS+CGRP group,CGRP8-37(antagonist of CGRP)in HS+CGRP8-37 group,and CGRP with H89 in HS+CGRP+H89 group.Electroencephalograms were recorded and the serum concentration of S100B,neuron-specific enolase(NSE),neuron apoptosis,activated caspase-3 and CGRP expression,as well as pathological morphology of brain tissue were detected at 2 h,6 h,and 24 h after HSin vivo.The expression of PKA,p-CREB,and Bcl-2 in rat neurons were also detected at 2 h after HSin vitro.Exogenous CGRP,CGRP8-37,or H89 were used to determine whether CGRP plays a protective role in brain injury via PKA/p-CREB pathway.The unpairedt-test was used between the 2 samples,and the mean±SD was used for multiple samples.Double-tailedp<0.05 was considered statistically significant.Results:Electroencephalogram showed significant alteration ofθ(54.50±11.51vs.31.30±8.71,F=6.790,p=0.005)andαwave(16.60±3.21vs.35.40±11.28,F=4.549,p=0.020)in HS group compared to the control group 2 h after HS.The results of triphosphate gap terminal labeling(TUNEL)showed that the neuronal apoptosis of HS rats was increased in the cortex(9.67±3.16vs.1.80±1.10,F=11.002,p=0.001)and

关键词： Heatstroke Calcitonin gene-related peptide Brain injury Apoptosis

Effect of low-degree astigmatism on the objective visual quality

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International Journal of Ophthalmology(English edition) 2024年第6期17卷 1086-1093页

作者： Ling-Ying Ye Shu-Feng Li jing-jing Zuo Jin Li Hui-xiang Ma National Clinical Research Center for Ocular Diseases Eye HospitalWenzhou Medical UniversityWenzhou 325027Zhejiang ProvinceChina

AIM:To evaluate the effect of low-degree astigmatism on objective visual quality through the Optical Quality Analysis System(OQAS).METHODS:This study enrolled 46 participants(aged 23 to 30y,90 eyes)with normal or corrected-to-normal vision.The cylindrical lenses(0,0.5,0.75,1.0,and 1.25 D)were placed at the axial direction(180°,45°,90°,and 135°)in front of the eyes with the best correction to form 16 types of regular low-degree astigmatism.OQAS was used to detect the objective visual quality,recorded as the objective scattering index(OSI),OQAS values at contrasts of 100%,20%,and 9%predictive visual acuity(OV100%,OV20%,and OV9%),modulation transfer function cut-off(MTFcut-off)and Strehl ratio(SR).The mixed effect linear model was used to compare objective visual quality differences between groups and examine associations between astigmatic magnitude and objective visual quality parameters.RESULTS:Apparent negative relationships between the magnitude of low astigmatism and objective visual quality were observed.The increase of OSI per degree of astigmatism at 180°,45°,90°,and 135°axis were 0.38(95%CI:0.35,0.42),0.50(95%CI:0.46,0.53),0.49(95%CI:0.45,0.54)and 0.37(95%CI:0.34,0.41),respectively.The decrease of MTFcut-off per degree of astigmatism at 180°,45°,90°,and 135°axis were-10.30(95%CI:-11.43,-9.16),-12.73(95%CI:-13.62,-11.86),-12.75(95%CI:-13.79,-11.70),and-9.97(95%CI:-10.92,-9.03),respectively.At the same astigmatism degree,OSI at 45°and 90°axis were higher than that at 0°and 135°axis,while MTFcut-off were lower.CONCLUSION:Low astigmatism of only 0.50 D can significantly reduce the objective visual quality.

关键词： low-degree astigmatism objective visual quality Optical Quality Analysis System

Suspected coexistence of perianal necrotizing sweet syndrome in chronic myelomonocytic leukemia:A case report

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World Journal of Gastrointestinal Surgery 2024年第4期16卷 1176-1183页

作者： Ke-Qiang Yu Hui-xiang Li jing Wu Clinical Medicine School Chengdu University of Chinese MedicineChengdu 610072Sichuan ProvinceChina Institute of Integrated Traditional Chinese and Western Medicine West China HospitalSichuan UniversityChengdu 610041Sichuan ProvinceChina

BACKGROUND Chronic myelomonocytic leukemia(CMML)complicated with Sweet syndrome(SS)is a rare hematological neoplasm.However,cases of concomitant development of perianal necrotizing SS(NSS)have not been reported.CASE SUMMARY We report a case of a 49-year-old male patient who underwent sequential procedures for hemorrhoids and perianal abscess.He developed postoperative incision infection and was referred to the department where the authors work.Initially,perianal necrotizing fasciitis secondary to incision infection after perianal abscess surgery was suspected.Despite receiving antibiotic therapy and undergoing surgical debridement,deeper necrotic areas formed in the patient’s perianal wounds,accompanied by persistent high fever.Blood and fungal cultures yielded negative results.The final diagnosis was corrected to be CMML with suspected concomitant perianal NSS.CONCLUSION CMML with perianal NSS is a rare condition,often misdiagnosed as perianal abscess or perianal necrotizing fasciitis.Conventional antibiotic therapy and surgical debridement are ineffective in managing this condition.

关键词： Chronic myelomonocytic leukemia Sweet syndrome Necrotizing fasciitis Perianal abscess Case report

Macrocyclic peptides:up-and-coming weapons to combat antimicrobial resistance

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Signal Transduction and Targeted Therapy 2024年第5期9卷 1786-1787页

作者： Wen-jing Wang xiang-Min Dong Guo-Bo L Department of Biotherapy Cancer Center and State Key Laboratory of BiotherapyWest China HospitalSichuan UniversityChengduSichuanChina Key Laboratory of Drug Targeting and Drug Delivery System of Ministry of Education Department of Medicinal ChemistryWest China School of PharmacySichuan UniversityChengduSichuanChina

Recently,two companion papers published in Nature reported a first-in-class tethered macrocyclic peptide antibiotic targeting carbapenem-resistant A.baumannii(CRAB)and unveiled their unique antibacterial mechanism,whi... 详细信息

关键词： outer macrocyclic Macrocyclic

Effectivity and safety of trifocal intraocular lenses and capsular tension rings implantation for cataract patients with axial high myopia

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International Journal of Ophthalmology(English edition) 2024年第3期17卷 499-508页

作者： Shan Hua Qiu-Xia Xie Hu Wang jing-xiang Zhong Dongguan Aier Eye Hospital Jinan UniversityDongguan 523106Guangdong ProvinceChina Department of Ophthalmology the First Affiliated Hospital of Jinan UniversityGuangzhou 510630Guangdong ProvinceChina Department of Ophthalmology the Sixth Affiliated Hospital of Jinan UniversityDongguan 523576Guangdong ProvinceChina

●AIM:To assess effectivity and safety of trifocal intraocular lenses(IOLs)and capsular tension rings in treating cataract patients with axial high myopia.●METHODS:A prospective nonrandomized controlled clinical trial was conducted.Totally 98 eyes(74 patients)who underwent femtosecond laser-assisted cataract surgery(FLACS)with trifocal IOLs were enrolled in the study and followed up for 2y after surgery:46 eyes(33 patients)with capsular tension ring implantation in the long axial lengths(AL)group(260.05).The dysfunctional lens index and total modulation transfer function(MTF)average height were similar between the two groups.The postoperative internal coma aberrations in the axial high myopia eyes were significantly higher than that in the normal AL group(P<0.05).The total satisfaction score in the long AL group(91.32±2.76)was slightly higher than that in the normal AL group(90.36±3.47),but there was no difference(P=0.136).A statistically negative correlation was found between corrected distance visual acuity(CDVA)and dysfunctional lens index(r=-0.382,P=0.009),and between CDVA and the total MTF average height(r=-0.374,P=0.01).But there was no significant correlation between CDVA and total satisfaction score(r=0.059,P=0.696).Postoperative complications mainly presented as posterior capsular opacity(PCO),retinal detachment and cystoid macular edema.There was no difference in the incidence of fundus disease(6.5%vs 3.8%,P=0.663)or PCO(1

关键词： trifocal intraocular lenses capsular tension ring axial high myopia cataract visual quality

Sandwich structures with tapered tubes as core:A quasi-static investigation

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Defence Technology（防务技术） 2024年第3期33卷 447-462页

作者： Xinmei xiang Dehua Shao Xin Zhang Umer Sharif Ngoc San Ha Li xiang jing Zhang Jiang Yi School of Civil Engineering Guangzhou UniversityGuangzhouChina Department of Mechanics and Aerospace Engineering Southern University of Science and TechnologyShenzhenGuangdongChina School of Engineering Centre for Innovative Structures and MaterialsRMIT UniversityMelbourneAustralia China Southern Airlines Co. LtdShenzhen BranchShenzhen518000China

In this article,the experimental and finite element analysis is utilized to investigate the quasi-static compression features of sandwich constructions built with tapered tubes.3D printing technology was utilized to create the hollow centers of the tapering tubes,with and without corrugations.The results demonstrate that the energy absorption(EA)and specific energy absorption(SEA)of the single corrugated tapered tube sandwich are 51.6% and 19.8% higher,respectively,than those of the conical tube sandwich.Furthermore,the results demonstrate that energy absorbers can benefit from corrugation in order to increase their efficiency.Additionally,the tapered corrugated tubes'resistance to oblique impacts was studied.Compared to a straight tube,the tapered tube is more resistant to oblique loads and has a lower initial peak crushing force(PCF),according to numerical simulations.After conducting a parametric study,it was discovered that the energy absorption performance of the sandwich construction is significantly affected by the amplitude,number of corrugations,and wall thickness.EA and SEA of DTS with corrugation number of 8 increased by 17.4%and 29.6%,respectively,while PCF decreased by 9.2% compared to DTS with corrugation number of 10.

关键词： Sandwich structure Corrugated tube Tapered tube Quasi-static Energy absorption

Real-time,single-particle chemical composition,volatility and mixing state measurements of urban aerosol particles in southwest China

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Journal of Environmental Sciences 2024年第2期136卷 361-371页

作者： Luyao Chen Junke Zhang Jiaqi Li Xiaojuan Huang Yuzheng xiang jing Chen Tingru Pan Wei Zhang Faculty of Geosciences and Environmental Engineering Southwest Jiaotong UniversityChengdu 611756China School of Atmospheric Sciences Chengdu University of Information TechnologyChengdu 610225China Sichuan Environmental Monitoring Center Chengdu 610074China

To investigate the volatility of atmospheric particulates and the evolution of other particulate properties(chemical composition,particle size distribution and mixing state)with temperature,a thermodenuder coupled with a single particle aerosol mass spectrometer was used to conduct continuous observations of atmospheric fine particles in Chengdu,southwest China.Because of their complex sources and secondary reaction processes,the average mass spectra of single particles contained a variety of chemical components(including organic,inorganic and metal species).When the temperature rose from room temperature to280℃,the relative areas of volatile and semi-volatile components decreased,while the relative areas of less or non-volatile components increased.Most(>80%)nitrate and sulfate existed in the form of NH_(4)NO_(3)and(NH_(4))_(2)SO_(4),and their volatilization temperatures were50–100℃and 150–280℃,respectively.The contribution of biomass burning(BB)and vehicle emission(VE)particles increased significantly at 280℃,which emphasized the important role of regional biomass burning and local motor vehicle emissions to the core of particles.With the increase in temperature,the particle size of the particles coated with volatile or semi-volatile components was reduced,and their mixing with secondary inorganic components was significantly weakened.The formation of K-nitrate(KNO_(3))and K-sulfate(KSO_(4))particles was dominated by liquid-phase processes and photochemical reactions,respectively.Reducing KNO_(3)and BB particles is the key to improving visibility.These new results are helpful towards better understanding the initial sources,pollution formation mechanisms and climatic effects of fine particulate matter in this megacity in southwest China.

关键词： Atmospheric fine particles TD-SPAMS Chemical composition Volatility Mixing state