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Genotypes and Phenotypes of Uygur Children with Xeroderma Pigmentosum: A Case Study in Xinj.ang, China

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International j.urnal of Dermatology and Venereology 2024年第3期7卷 144-149页

作者： Qiu Y. wang W.-j. Liang j.-Q. Yak.ya B. wang P. z.ang j.-z. k.ng X.-j. Department of Dermatology and Venereology People's Hospital of Xinjiang Uygur Autonomous Region Xinjiang Uygur Autonomous Region Urumqi 830001 China Xinj.ang Clinical Research Center for Dermatologic Diseases Xinjiang Uygur Autonomous Region Urumqi 830001 China Xinj.ang k.y Laboratory of Dermatology Research (Xj.S1707) Xinjiang Uygur Autonomous Region Urumqi 830001 China

Obj.ctive: Xeroderma pigmentosum (XP) is a rare autosomal recessive dermatosis caused by genetic defects of DNA repair. This study was performed to detect and analyz. the genes of 2 Uygur patients with XP and their families and assess the patients' phenotypes, which may enrich the understanding of the genetic sk.n disorder spectrum in Xinj.ang area. Methods: We collected the clinical data from 2 patients with XP and peripheral blood samples from the patients and their family members. The patients' DNA was sequenced and detected by Sanger sequencing, and gene mutations were screened. Results: The proband in family 1 presented with brown maculae at the exposure site and squamous cell carcinoma secondary to a facial rash. The proband had a homoz.gous nucleotide variation of XPC c.2251-2A> G (A change from A to G in the penultimate position of the intron before the 2251 position in the coding region), which was a shear mutation. In this family, both parents were heteroz.gous, and no similar mutation detected in the sister. In family 2, the proband had scattered black.brown spots and papules on the trunk.and limbs. and his younger sister was also a patient. The proband and his younger sister had homonucleotide variation of XPA c.631C> T, which was nonsense mutation, resulting in the codon for Arg No.211 being changed into termination codon (***211X), thus terminating the peptide chain synthesis prematurely. All the normal individuals in the two families were heteroz.gotes, and homoz.gous mutations occurred in all the patients, which was consistent with the autosomal recessive inheritance. Conclusion: XP is rare in Uygur population. This study expanded the mutation spectrum of XP and provided a basis for early diagnosis, treatment, prognostic prediction, and prenatal genetic consultation. © 2022 Hospital for Sk.n Diseases (Institute of Dermatology), Chinese Academy of Medical Sciences, and Chinese Medical Association, published by Wolters k.uwer, Inc.

关键词： gene mutation xeroderma pigmentosum XPA gene XPC gene

Serum amylase as a novel prognostic mark.r of organophosphorus poisoning: a retrospective study

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Emergency and Critical Care Medicine 2024年第3期4卷 111-116页

作者： Guo X. Chen z. Feng k. z.ng S. z.ang j. Ma z. Yuan C. School of Clinical Medicine Ningxia Medical University Ningxia Hui Yinchuan China Emergency Department General Hospital of Ningxia Medical University Ningxia Hui Autonomous Region Yinchuan China

Back.round: This study aims to explore the significance of serum amylase levels in patients with organophosphorus pesticide (OP) poisoning and to provide a new perspective for evaluating the severity and prognosis of OP poisoning. Methods: The clinical data of 67 patients with acute OP poisoning, who had been treated in the emergency department of the General Hospital of Ningxia Medical University between September 2020 and August 2022, were retrospectively analyz.d. Using Spearman rank.correlation, serum amylase levels during admission and severity of poisoning correlated with discharge outcomes. Based on serum amylase levels, receiver operating characteristic curves were plotted to predict the severity and mortality of patients who experience organophosphate poisoning. The optimal threshold serum amylase level at admission was determined based on the maximum Youden index. Results: Using Spearman rank.correlation analysis, serum amylase levels at admission positively correlated with the severity of poisoning and discharge outcomes, but the degree of correlation was weak.(rs: 0.344; 0.264; P 194.1 U/L at admission was 15.944 (95% CI: 1.825–139.274). Conclusion: Serum amylase levels in patients with organophosphate poisoning correlate with the degree of poisoning and discharge outcomes. Higher serum amylase level was a risk.factor for organophosphorus poisoning death. © Wolters k.uwer Health, Inc. All rights reserved.

关键词： Amylase Emergency department Organophosphorus pesticide poisoning Prognosis

Microarray analysis of signalling interactions between inflammation and angiogenesis in subchondral bone in temporomandibular j.int osteoarthritis

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Biomaterials Translational 2024年第2期5卷 175-184页

作者： Qin W. Gao j. Yan j. Han X. Lu W. Ma z. Niu L. j.ao k. Department of Stomatology Tangdu Hospital and State Key Laboratory of Oral and Maxillofacial Reconstruction and Regeneration School of Stomatology The Fourth Military Medical University Shaanxi Province Xi’an China State k.y Laboratory of Oral and Maxillofacial Reconstruction and Regeneration and National Clinical Research Centre for Oral Diseases Shaanxi Key Laboratory of Stomatology School of Stomatology The Fourth Military Medical University Shaanxi Province Xi’an China

Inflammation and angiogenesis, the maj.r pathological changes of osteoarthritis (OA), are closely associated with j.int pain; however, pertinent signalling interactions within subchondral bone of osteoarthritic j.ints and potential contribution to the peripheral origin of OA pain remain to be elucidated. Herein we developed a unilateral anterior crossbite mouse model with osteoarthritic changes in the temporomandibular j.int. Microarray-based transcriptome analysis, besides quantitative real-time polymerase chain reaction, was performed to identify differentially expressed genes (DEGs). Overall, 182 DEGs (fold change ≥ 2, P j.cting significant DEGs to enrichment analyses, inflammation and angiogenesis were identified as the most affected. Inflammation-related DEGs were mainly enriched in T cell activation and differentiation and in the mammalian target of rapamycin/nuclear factor-κB/tumour necrosis factor signalling. Furthermore, angiogenesis-related DEGs were mainly enriched in the Gene Ontology terms angiogenesis regulation and vasculature development and in the k.GG pathways of phosphoinositide 3-k.nase-protein k.nase B/vascular endothelial growth factor/hypoxia-inducible factor 1 signalling. Protein– protein interaction analysis revealed a close interaction between inflammation-and angiogenesis-related DEGs, suggesting that phosphatidylinositol-4,5-bisphosphate 3-k.nase catalytic subunit delta (Pi3k.d), cathelicidin antimicrobial peptide (Camp), C-X-C motif chemok.ne receptor 4 (Cxcr4), and MYB proto-oncogene transcription factor (Myb) play a central role in their interaction. To summariz., our findings reveal that in subchondral bone of osteoarthritic j.ints, signal interaction is interrelated between inflammation and angiogenesis and associated with the peripheral origin of OA pain; moreover, our data highlight potential t

关键词： angiogenesis inflammation osteoarthritic pain osteoarthritis subchondral bone temporomandibular j.int (TMj.

Leptin Modulates the Differentiation of k.ratinocytes via Autophagy in Psoriasis Patients with Metabolic Syndrome

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International j.urnal of Dermatology and Venereology 2024年第3期7卷 121-130页

作者： Song C.-H. wang R. z.ao z.-k. z.ang Y. Sun j. z.ang X. Ding X.-Y. Bai j. Liang X.-Q. Wei X.-j. Liu X.-L. yang T. Liang X.-L. Li C.-X. Lin B.-W. Department of Dermatology PLA General Hospital Beijing 100853 China Department of Clinical Laboratory PLA General Hospital Beijing 100853 China Department of Dermatology Southern Medical University Guangdong Guangzhou 510515 China

Obj.ctive: Psoriasis is associated with a high prevalence of metabolic syndrome (MS), and patients with concomitant psoriasis and MS are more severely affected and less responsive to treatment. However, the molecular mechanisms behind these effects are unk.own. Recent studies have shown that leptin may serve as a molecular link.between psoriasis and MS, suggesting that high leptin concentrations may exacerbate psoriasis. However, the molecular mechanism of this effect is still unclear. We aimed to investigate the effect of leptin on autophagy in patients with psoriasis. Methods: From j.nuary 2021 to j.ne 2022 in PLA General Hospital, we enrolled 51 patients with psoriasis, including 21 patients with MS and 30 without MS, and 30 healthy controls who had undergone nevus surgery. We measured the epidermal leptin, P62, and LC3B concentrations of patients by immunohistochemistry, and measured the serum leptin concentration by enz.me-link.d immunosorbent assay. We then performed correlation analyses to compare these proteins' concentrations between patients with concomitant psoriasis and MS, patients with psoriasis alone, and healthy control groups. Additionally, we performed western blotting after in vitro culture of HaCaT cells with different concentrations of leptin and measured the expression levels of the autophagy mark.rs Beclin1, LC3B, and P62; the differentiation mark.rs k.0, k.6, and k.7; and PI3k.Ak./mTOR signaling pathway-related proteins of HaCat cells. Next, we transfected ATG5 into HaCaT cells to revert autophagy and used the specific PI3k.inhibitor LY294002 to block.PI3k.Ak./mTOR signaling. The expression levels of k.0, k.6, and k.7 of HaCat cells were again measured. One-way analysis of variance was used for the comparison of means of multiple samples, and LSD-t post hoc test was used for comparison between the 2 groups. The counting data were analyz.d by the chi-square test. Correlations were evaluated by Pearson correlation analysis. Results: The serum l

关键词： autophagy k.ratinocyte differentiation leptin metabolic syndrome PI3k.Ak./mTOR psoriasis signal pathway

In situ digital testing method for quality assessment of soft soil improvement with polyurethane

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j.urnal of Rock.Mechanics and Geotechnical Engineering 2024年第5期16卷 1732-1748页

作者： X.F.wang C.j.wang W.V.Yue z.j.z.ang z.Q.Yue Department of Civil Engineering China University of Geosciences (Beijing)BeijingChina Department of Water Science and Engineering Zhengzhou UniversityZhengzhouChina Department of Geotechnical Engineering Tongji UniversityShanghaiChina Department of Civil Engineering The University of Hong KongChina

This study purposes an in situ testing method on quality assessment of soil *** drilling data includes the spatial distribution and in situ strength of untreated and treated soil along three different drillholes measured by on-site drilling monitoring *** factual drilling data can characteriz. the degree of soil improvement by penetration inj.ction with permeable *** from on-site drilling monitoring shows that the linear z.nes represent constant drilling speeds shown in the plot of drill bit advancement *** drilling time,which indicates the spatial distributions of soil *** soil profile at the study site is composed of four layers,which includes fill,untreated silty clay,treated silty clay,and muck. *** results of soil profile are verified by the parallel site *** constant drilling speeds profile the coring-resistant strength of drilled *** comparing with the untreated silty clay,the constant drilling speeds of the treated silty clay have been decreased by 13.0-62.8%.Two drilling-speed-based indices of 61.2%and 65.6%are proposed to assess the decreased average drilling speed and the increased in situ strength of treated silty *** tests,*** compressive strength(UCS)test,have been performed with core sample to investigate and characteriz. in situ strength by comparing that with drilling *** show that the average predicted strengths of treated silty clay are 2.4-6.9 times higher than the average measured strength of untreated silty *** UCS-based indices of 374.5%and 344.2%verified the quality assessment(QA)results by this new in situ *** method provides a cost-effective tool for quality assessment of soil improvement by utiliz.ng the digital drilling data.

关键词： Drilling process monitoring system Hydraulic rotary drilling process Constant drilling speed Soil improvement Quality assessment

Construction of 2D/2D Ti_(3)C_(2)T_(x)MXene/CdS heteroj.nction with photothermal effect for efficient photocatalytic hydrogen production

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j.urnal of Materials Science & Technology 2024年第4期171卷 1-9页

作者： T.Y.Huang z.yang S.Y.yang z.H.Dai Y.j.Liu j.H.Liao G.Y.z.ong z.j.Xie Y.P.Fang S.S.z.ang k.y Laboratory for Biobased Materials and Energy of Ministry of Education Guangdong Laboratory for Lingnan Modern AgricultureCollege of Materials and EnergySouth China Agricultural UniversityGuangzhou 510643China School of Physics and Optoelectronics South China University of TechnologyGuangzhou 510640China School of Chemical Engineering and Energy Technology Guangdong Provincial Key Laboratory of Distributed Energy SystemsDongguan University of TechnologyDongguan 523808China

The insensitivity of semiconductors to visible and infrared light is a k.y constraint on the utiliz.tion of light energy in photocatalytic *** photocatalysts with full-spectrum absorption through surface engineering is an effective approach to fully harnessing light energy in semiconductor ***,a novel stable Ti_(3)C_(2)T_(x)MXene/CdS heteroj.nction catalyst is obtained by in-situ epitaxial growth of two-dimensional(2D)CdS nanosheets on 2D MXene interface via a solvothermal *** exceptional light absorption properties of MXene confer outstanding full-spectrum driven photocat-alytic hydrogen evolution capability upon the heterogeneous *** unique 2D/2D structure effectively mitigated the recombination of photogenerated carriers,enhancing the photocatalytic performance of the ***,the composite catalyst exhibits a significantly higher surface temperature of 80.4℃under visible light irradiation at an intensity of 0.1 W/cm^(2),which is 1.84 times higher than that of *** irradiation of visible and near infrared light,the composite catalyst with photothermal ef-fect demonstrates a remark.ble hydrogen evolution rate of 65.4 mmol g^(-1)h^(-1),which is 7.2 times higher than that of CdS *** study introduces a novel approach for constructing full-spectrum absorption catalysts and expands the application of the photothermal effect in photocatalytic hydrogen evolution research.

关键词： Two-dimensional structure Heterostructure Photothermal effect Photocatalyst Hydrogen evolution

Atomistic Investigation of Shock.Induced Amorphiz.tion within Micro-shear Bands in Hexagonal Close-Pack.d Titanium

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Acta Metallurgica Sinica(English Letters) 2024年第9期37卷 1590-1600页

作者： z.C.Meng k.G.wang T.Ali D.Li C.G.Bai D.S.Xu S.j.Li A.H.Feng G.j.Cao j.H.Yao Q.B.Fan H.wang R.yang Institute of Metal Research Chinese Academy of SciencesShenyang 110016China School of Materials Science and Engineering University of Science and Technology of ChinaShenyang 110016China Interdisciplinary Centre for Additive Manufacturing(ICAM) School of Materials and ChemistryUniversity of Shanghai for Science and TechnologyShanghai 200093China School of Materials Science and Engineering Tongji UniversityShanghai 201804China k.y Laboratory for Light-Weight Materials Nanjing Tech UniversityNanjing 210009China National k.y Laboratory of Science and Technology on Materials Under Shock.and Impact School of Materials Science and EngineeringBeijing Institute of TechnologyBeijing 100081China Beij.ng Institute of Technology Chongqing Innovation Center Chongqing 401135China

The mechanical response of a single crystal titanium sample against(0001)α surface impact was investigated using molecular dynamics ***,non-uniform plastic deformation was observed in the *** high strain rates,amorphiz.tion occurred near the edge of the contact region where severe shear strain induced a large number of stack.ng faults(SFs)and *** contrast,the central part of the contact region underwent less deformation with significantly fewer ***,instead of amorphiz.tion by consuming SFs and dislocations,there was a gradual increase in the density of dislocations and SFs during the process of *** local amorphous regions eventually grew into shear bands.

关键词： Shock.compression Amorphiz.tion Shear band Titanium Molecular dynamics

Chinese Expert Consensus on the Diagnosis and Treatment of Adult Dermatomyositis (2022)#

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International j.urnal of Dermatology and Venereology 2024年第3期7卷 163-173页

作者： Cao H. Chen A.-j. Cui Y. Deng D.-Q. Gao X.-H. He Y.-L. k.ng X.-j. j.n H.-z. Li C.-X. Li F. Li H.-j. Liao W.-j. Liu X.-M. Lu Q.-j. Lu Y. Pan M. Pan W.-H. Shu X.-M. Sun Q. Tang k.-Y. Tao j. wang Y. Xiao T. z.ang F.-R. z.ang H.-L. Department of Dermatology Ruijin Hospital Affiliated Shanghai Jiao Tong University School of Medicine Shanghai 200025 China Department of Dermatology First Affiliated Hospital of Chongqing Medical University Chongqing 400042 China Department of Dermatology China-Japan Friendship Hospital Beijing 100029 China Department of Dermatology The Second Affiliated Hospital of Kunming Medical University Yunnan Kunming 650101 China Department of Dermatology The First Hospital of China Medical University Liaoning Shenyang 110001 China Department of Dermatology Beijing Chaoyang Hospital Affiliated to Capital Medical University Beijing 100020 China Department of Dermatology and Venereology People's Hospital of Xinjiang Uygur Autonomous Region Xinjiang Uygur Autonomous Region Urumqi 830001 China Department of Dermatology State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College Hospital Chinese Academy of Medical Science Peking Union Medical College Beijing 100730 China Department of Dermatology First Medical Center PLA General Hospital Beijing 100853 China Department of Dermatology Hainan Hospital of PLA General Hospital Hainan Sanya 572013 China Department of Dermatology Xijing Hospital Air Force Medical University Shaanxi Xi'an 710032 China Department of Dermatology Huazhong University of Science and Technology Union Shenzhen Hospital Guangdong Shenzhen 518052 China Hospital for Sk.n Diseases Institute of Dermatology Chinese Academy of Medical Sciences Peking Union Medical College Jiangsu Nanjing 210042 China Department of Dermatology Jiangsu Province Hospital The First Affiliated Hospital Nanjing Medical University Jiangsu Nanjing 210029 China Department of Dermatology Shanghai Changzheng Hospital Second Affiliated Hospital of Naval Medical University Shanghai 200003 China Department of Rheumatology China-Japan Friendship Hospital Beijing 100029 China Department of Dermatology Qilu Hospital of Shandong Universit

Dermatomyositis, an idiopathic inflammatory myopathy, is characteriz.d by distinctive sk.n manifestations, proximal muscle weak.ess, and multiple organ involvement and can be accompanied by malignancies. To provide a reference for dermatologists and clinicians in other relevant fields of clinical practice, experts from the Dermatology Branch of the China International Exchange and Promotion Association for Medical and Health Care and the National Clinical Research Center for Dermatologic and Immunologic Diseases developed this consensus on the diagnosis and treatment of adult dermatomyositis using Chinese and international literature and expert advice. © 2024 Wolters k.uwer Health. All rights reserved.

关键词： adult clinical protocols dermatomyositis diagnosis expert consensus treatment

Compressive property and energy absorption characteristic of interconnected porous Mg-z.-Y alloys with adj.sting Y addition

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j.urnal of Magnesium and Alloys 2024年第1期12卷 171-185页

作者： j.A.Liu S.j.Liu B.wang W.B.Sun X.j.Liu z.W.Han College of Materials Science and Engineering Key Laboratory of Automobile Materials(Ministry of Education)Jilin UniversityChangchun 130022PR China k.y Laboratory of Bionic Engineering(Ministry of Education) College of Biological and Agricultural EngineeringJilin UniversityChangchun130022PR China Weihai Institute for Bionics-j.lin University Weihai 264205PR China

In this study,interconnected porous Mg-2z.-xY alloys with different phase compositions were prepared by various Y additions(x=0.4,3,and 6 wt.%)to adj.st the compressive properties and energy absorption *** characteriz.tion methods were then applied to identify the microstructure of the porous Mg-z.-Y and describe the details of the second *** tests were performed at room temperature(RT),200℃,and 300℃to study the impact of the Y addition and testing temperature on the compressive properties of the porous *** experimental results showed that a high Y content promotes a microstructure refinement and increases the volume fraction of the second *** the Y content increases,different Mg-z.-Y ternary phases appear:I-phase(Mg_(3)z._(6)Y),W-phase(Mg_(3)z._(3)Y_(2)),and LPSO phase(Mg_(12)z.Y).When the Y content ranges between 0.4%and 6%,the compressive strength increases from 6.30MPa to 9.23 MPa,and the energy absorption capacity increases from 7.33 Mj.m^(3)to 10.97 Mj.m^(3)at RT,which is mainly attributed to the phase composition and volume fraction of the second ***,the average energy absorption efficiency is independent of the Y *** addition,the compressive deformation behaviors of the porous Mg-z.-Y are altered by the testing *** compressive strength and energy absorption capacity of the porous Mg-z.-Y decrease due to the softening effect of the high temperature on the *** deformation behaviors at different temperatures are finally observed to reflect the failure mechanisms of the struts.

关键词： Porous magnesium Rare earth elements Microstructure Compressive behavior Energy absorption characteristic