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中华医学杂志(英文版) 2024年第16期137卷 2011-2013页

作者： Huang Shuang Jin Ling Yang Jing Peng Yaguang Gong Wenyu Hou Shuo Xing Tianyu Li Zhigang Duan Yanlong Medical Oncology Department Pediatric Oncology Center Beijing Children’s Hospital Capital Medical University National Center for Children’s Health Beijing Key Laboratory of Pediatric Hematology Oncology National Key Clinical Discipline of Pediatric Oncology Key Laboratory of Major Disease in Children Ministry of Education Beijing China Clinical Epidemiology and Evidence-based Medicine National Center for Children’s Health Beijing Children’s Health Beijing Children’s Hospital Capital Medical University Beijing China Hematologic Disease laboratory Hematology Center Beijing Key Laboratory of Pediatric Hematology Oncology National Key Discipline of Pediatrics Key Laboratory of Major Diseases in Children Ministry of Education Beijing Pediatric Research Institute Beijing Children’s Hospital Capital Medical University National Center for Children’s Health Beijing China

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

Visible light cross-linking and bioactive peptides loaded integrated hydrogel with sequential release to accelerate wound healing complicated by bacterial infection

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Nano Research 2024年第3期17卷 1737-1747页

作者： Guiyan Wang Ning Yuan Jun Zhang Man Qin Suwei Dong Yuguang Wang Department of pediatric Dentistry Peking University School and Hospital of StomatologyBeijing 100081China State key laboratory of Natural and Biomimetic Drugs Chemical Biology Centerand School of Pharmaceutical SciencesPeking UniversityBeijing 100191China Department of Prosthodontics Peking University School and Hospital of StomatologyBeijing 100081China

The effective management of bacterial infections that are resistant to multiple drugs remains a substantial clinical *** eradication of drug-resistant bacteria and subsequent promotion of angiogenesis are imperative for the regeneration of the infected ***,a novel and facile peptide containing injectable hydrogel with sustained antibacterial and angiogenic capabilities is *** antibacterial peptide that consists of 11 residues(CM11,WKLFKKILKVL)is loaded onto acrylate-modified gelatin through charge interactions.A vascular endothelial growth factor mimetic peptide KLT(KLTWQELYQLKYKGI)with a GCG(Gly-Cys-Gly)modification at the N-terminal is covalently coupled through a visible light-induced thiol-ene *** this reaction,the acrylate gelatin undergoes cross-linkage within *** on the physical/chemical double crosslinking strategy,the bioactive peptides achieve sustained and sequential *** results show that the hydrogel significantly inhibits methicillin-resistant Staphylococcus aureus(MRSA)growth through the rapid release of CM11 peptides at early stage;it forms obvious growth inhibition zones against pathogenic bacterial ***,cell counting kit-8 assay and scratch test confirm that the CM11/KLT-functionalized hydrogels promote cell proliferation and migration through the later release of KLT *** a mouse skin wound infected with self-luminous MRSA,the CM11/KLT-functionalized hydrogels enhance wound healing,with rapidly bacterial infection reduction,lower expression of inflammatory factors,and neovascularization *** results suggest that the rationally designed,sustained and sequential release CM11/KLT-functionalized hydrogels have huge potential in promoting the healing of multi-drug resistant bacterial infected wounds.

关键词： antimicrobial peptide vascular endothelial growth factor(VEGF)mimetic peptide sequential release visible-light crosslinking hydrogel wound therapy

Low-dose immune tolerance induction for severe hemophilia A inhibitor patients:Immunosuppressants are generally not necessary for inhibitor-titer below 200 BU/mL

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pediatric Investigation 2024年第2期8卷 91-100页

作者： Zhengping Li Jie Sun Zekun Li Zhenping Chen Guoqing Liu Wanru Yao Xiaoling Cheng Gang Li Yingzi Zhen Di Ai Yaohan Zhou Qianqian Mao Man-Chiu Poon Runhui Wu Hemophilia Comprehensive Care Center Hematology DepartmentHematology CenterBeijing Key Laboratory of Pediatric Hematology-OncologyKey Laboratory of Major Diseases in ChildrenNational Key Discipline of Pediatrics(Capital Medical University)Ministry of EducationBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Hematologic Disease laboratory Hematology DepartmentHematology CenterBeijing Key Laboratory of Pediatric Hematology-OncologyKey Laboratory of Major Diseases in ChildrenNational Key Discipline of Pediatrics(Capital Medical University)Ministry of EducationBeijing Pediatric Research InstituteBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Pharmacy Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Departments of Medicine Pediatrics and OncologyUniversity of Calgary Cumming School of MedicineCalgaryCanada

Importance:It remained unclear that the efficacy comparison between low-dose immune tolerance induction(LD-ITI)incorporating immunosuppressants(IS)when severe hemophilia A(SHA)patients had inhibitor-titer≥200 Bethesda Units(BU)/mL(LD-ITI-IS^(200) regimen)and LD-ITI combining with IS when SHA patients had inhibitor-titer≥40 BU/mL(LD-ITI-IS^(40) regimen).Objective:To compare the efficacy of the LD-ITI-IS^(200) regimen with that of the LD-ITI-IS^(40) regimen for SHA patients with high-titer ***:A prospective cohort study on patients receiving LD-ITI-IS^(200) compared to those receiving LD-ITI-IS^(40) from January 2021 to December *** received LD-ITI[FVIII 50 IU/kg every other day].IS(rituximab+prednisone)was added when peak inhibitor tier≥200 BU/mL in the LD-ITI-IS^(200) regimen and≥40 BU/mL in the LD-ITI-IS^(40) *** is defined as a negative inhibitor plus FVIII recovery≥66%of the ***:We enrolled 30 patients on LD-ITI-IS^(200) and 64 patients on LD-ITI-IS^(40),with similar baseline clinical characteristics.A lower IS-use rate was discovered in the LD-ITI-IS^(200) regimen compared to the LD-ITI-IS^(40) regimen(30.0%vs.62.5%).The two regimens(LD-ITI-IS^(200) ***-ITI-IS^(40))had similar success rate(70.0%vs.79.7%),median time to success(9.4 vs.10.6 months),and annualized bleeding rate during ITI(3.7 vs.2.8).The cost to success was lower for LD-ITI-IS^(200) than for LD-ITI-IS^(40)(2107 vs.3256 US Dollar/kg).Among patients with peak inhibitor-titer 40-199 BU/mL,10 non-IS-using(on LD-ITI-IS^(200) regimen)and 28 IS-using(on LD-ITI-IS^(40) regimen)had similar success rates(70.0%vs.78.6%)and time to success(9.0 vs.8.8 months).Interpretation:In LD-ITI,IS are not necessary for inhibitor titer<200 BU/mL.

关键词： Hemophilia A High-titer inhibitor Immune tolerance induction Immunosuppressant Low-dose

Construction of a novel six-gene signature to predict tumour response to induction chemotherapy and overall survival in locoregionally advanced laryngeal and hypopharyngeal carcinoma

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Genes & Diseases 2024年第3期11卷 148-150页

作者： Chen Tan Lingwa Wang Yifan Yang Shizhi He George G.Chen Jason YK.Chan Michael CF.Tong C.A.van Hasselt Wenbin Xu Ling Feng Ru Wang Jugao Fang Department of otolaryngology Head and Neck Surgery Beijing Tongren HospitalCapital Medical UniversityBeijing 100730China key laboratory of otolaryngology Head and Neck Surgery(Ministry of Education of China) Beijing Institute of OtolaryngologyBeijing 100730China Department of Otorhinolaryngology Head and Neck SurgeryThe Chinese University of Hong KongPrince of Wales HospitalHongKong SAR999077China Department of Medical Genetics Institute of Basic Medical ScienceChinese Academy of Medical Science&Peking Union Medical CollageBeijing 100730China

Locoregionally advanced laryngeal and hypopharyngeal cancers(LA-LHCs)are traditionally treated with surgery followed by postoperative radiotherapy,which impairs speech and swallowing functions and reduces the quality of life.^(1,2)The use of induction chemotherapy(IC)as a larynxpreserving approach for LA-LHCs has been verified and refined.^(3)However,the short-term tumor response to IC varies,non-responders usually show poor survival and little benefit.

关键词： chemotherapy laryngeal surgery

Treatment of SMA type 1 infants using a single-dose AAV9-mediated gene therapy via intrathecal injection of GC101: An open-label, single-arm study

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中华医学杂志(英文版) 2024年第16期137卷 1976-1978页

作者： Ma Xiuwei Zhuang Lu Ma Wenhao Li Jun Wang Xiaodong Li Zhongqiu Jiang Xinyang Wang Yongxia Du Ying Zhang Yingqian He Fang Zhu Zhiming Du Shaopeng Xu Juan Gu Ruijie Zhang Yanping Zhang Shan Li Ting Yang Xiao Zhang Sheng Zhu Lina Li Qiuping Dong Xiaoyan Wu Xiaobing Feng Zhichun Department of Neurodevelopment Faculty of Pediatrics The Seventh Medical Center of Chinese PLA General Hospital Beijing China National Engineering laboratory for Birth Defects Prevention and Control of key Technology Beijing China Research and Development Division Genecradle Therapeutics Inc. Beijing China Medical Division Genecradle Therapeutics Inc. Beijing China Department of Pharmacy Medical Supplies Center of Chinese PLA General Hospital Beijing China beijing key laboratory of pediatric Organ Failure Beijing China

Genetically modified pigs:Emerging animal models for hereditary hearing loss

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Zoological Research 2024年第2期45卷 284-291页

作者： Xiao Wang Tian-Xia Liu Ying Zhang Liang-Wei Xu Shuo-Long Yuan A-Long Cui Wei-Wei Guo Yan-Fang Wang Shi-Ming Yang Jian-Guo Zhao State key laboratory of Stem Cell and Reproductive Biology Institute of ZoologyChinese Academy of SciencesBeijing 100101China Savaid Medical School University of Chinese Academy of SciencesBeijing 100049China Institute for Stem Cell and Regeneration Chinese Academy of SciencesBeijing 100101China beijing Institute for Stem Cell and Regenerative Medicine Beijing 100101China Department of otolaryngology-Head and Neck Surgery Institute of OtolaryngologyChinese PLA General HospitalBeijing 100853China Division of Life Sciences and Medicine University of Science and Technology of ChinaHefeiAnhui 230022China State key laboratory of Animal Biotech Breeding Institute of Animal ScienceChinese Academy of Agricultural SciencesBeijing100193China

Hereditary hearing loss(HHL),a genetic disorder that impairs auditory function,significantly affects quality of life and incurs substantial economic losses for *** investigate the underlying causes of HHL and evaluate therapeutic outcomes,appropriate animal models are *** have been extensively used as valuable large animal models in biomedical *** this review,we highlight the advantages of pig models in terms of ear anatomy,inner ear morphology,and electrophysiological characteristics,as well as recent advancements in the development of distinct genetically modified porcine models of hearing ***,we discuss the prospects,challenges,and recommendations regarding the use pig models in HHL ***,this review provides insights and perspectives for future studies on HHL using porcine models.

关键词： Pigs Animal models Hereditary hearing loss Genetic modification Inner ear

Development of Chinese herbal medicine for sensorineural hearing loss

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Acta Pharmaceutica Sinica B 2024年第2期14卷 455-467页

作者： Yunhao Wu Jingwen Zhang Qiuping Liu Zhuang Miao Renjie Chai Wenyong Chen State key laboratory of Bioelectronics Department of Otolaryngology Head and Neck SurgeryZhongda HospitalSchool of Life Sciences and TechnologyAdvanced Institute for Life and HealthJiangsu Province HighTech Key Laboratory for Bio-Medical ResearchSoutheast UniversityNanjing 210096China Department of otolaryngology-Head and Neck the Second Affiliated Hospital of Guangzhou University of Chinese MedicineGuangzhou 510120China Department of otolaryngology-Head and Neck Surgery Affiliated Hospital of Jiangnan UniversityWuxi 214000China Department of otolaryngology Head and Neck Surgery Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengdu 610000China Co-Innovation Center of Neuroregeneration Nantong UniversityNantong 226001China Institute for Stem Cell and Regeneration Chinese Academy of ScienceBeijing 100085China beijing key laboratory of Neural Regeneration and Repair Capital Medical UniversityBeijing 100069China

According to the World Health Organization’s world report on hearing,nearly 2.5 billion people worldwide will suffer from hearing loss by 2050,which may contribute to a severe impact on individual life quality and national *** hearing loss(SNHL)occurs commonly as a result of noise exposure,aging,and ototoxic drugs,and is pathologically characterized by the impairment of mechanosensory hair cells of the inner ear,which is mainly triggered by reactive oxygen species accumulation,inflammation,and mitochondrial *** recent advances have been made in understanding the ability of cochlear repair and regeneration,there are still no effective therapeutic drugs for *** herbal medicine which is widely distributed and easily accessible in China has demonstrated a unique curative effect against SNHL with higher safety and lower cost compared with Western *** we present trends in research for Chinese herbal medicine for the treatment of SNHL,and elucidate their molecular mechanisms of action,to pave the way for further research and development of novel effective drugs in this field.

关键词： Sensorineural hearing loss Chinese herbal medicine Molecular mechanism Active ingredients Prescriptions Ototoxic drugs Noise Hair cells

Advance and Application of Single‑cell Transcriptomics in Auditory Research

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Neuroscience Bulletin 2024年第7期40卷 963-980页

作者： Xiangyu Ma Jiamin Guo Mengyao Tian Yaoyang Fu Pei Jiang Yuan Zhang Renjie Chai State key laboratory of Digital Medical Engineering Department of Otolaryngology Head and Neck SurgeryZhongda HospitalSchool of Life Sciences and TechnologyAdvanced Institute for Life and HealthJiangsu Province High‑Tech Key Laboratory for Bio‑Medical ResearchSoutheast UniversityNanjing 210096China Department of Psychiatry Affiliated Hangzhou First People’s HospitalZhejiang University school of MedicineHangzhou 310030China Department of otolaryngology Head and Neck Surgery Affiliated Drum Tower Hospital of Nanjing University Medical SchoolJiangsu Provincial Key Medical Discipline(Laboratory)NanjingChina Research Institute of otolaryngology Nanjing 210008China Department of otolaryngology Head and Neck Surgery Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengdu 610072China Co‑Innovation Center of Neuroregeneration Nantong UniversityNantong 226001China Institute for Stem Cell and Regeneration Chinese Academy of ScienceBeijing 101408China beijing key laboratory of Neural Regeneration and Repair Capital Medical UniversityBeijing 100069China

Hearing loss and deafness,as a worldwide disability disease,have been troubling human ***,the auditory organ of the inner ear is highly heterogeneous and has a very limited number of cells,which are largely uncharacterized in ***,with the development and utilization of single-cell RNA sequencing(scRNA-seq),researchers have been able to unveil the complex and sophisticated biological mechanisms of various types of cells in the auditory organ at the single-cell level and address the challenges of cellular heterogeneity that are not resolved through by conventional bulk RNA sequencing(bulk RNAseq).Herein,we reviewed the application of scRNA-seq technology in auditory research,with the aim of providing a reference for the development of auditory organs,the pathogenesis of hearing loss,and regenerative *** about spatial transcriptomic scRNA-seq,single-cell based genome,and Live-seq technology will also be discussed.

关键词： Single-cell RNA sequencing Inner ear Cochlear Auditory sensory epithelium Spiral ganglion neuron

Ionically Imprinting-Based Copper(Ⅱ)Label-Free Detection for Preventing Hearing Loss

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Engineering 2024年第2期33卷 276-282页

作者： Huan Wang Hui Zhang Xiaoli Zhang Hong Chen Ling Lu Renjie Chai The Eighth Affiliated Hospital Sun Yat-Sen UniversityShenzhen 518033China State key laboratory of Digital Medical Engineering Department of Otolaryngology Head and Neck SurgeryZhongda Hospital&Advanced Institute for Life and HealthSoutheast UniversityNanjing 210096China Guangdong key laboratory for Biomedical Measurements and Ultrasound Imaging Department of Biomedical EngineeringShenzhen UniversityShenzhen 518060China Department of otolaryngology Head and Neck Surgery Jiangsu Provincial Key Medical DisciplineNanjing Drum Tower HospitalThe Affiliated Hospital of Nanjing University Medical SchoolNanjing 210008China Co-Innovation Center of Neuroregeneration Nantong UniversityNantong 226001China Department of otolaryngology Head and Neck Surgery Sichuan Provincial People's HospitalUniversity of Electronic Science and Technology of ChinaChengdu 610072China Institute for Stem Cell and Regeneration Chinese Academy of ScienceBeijing 100101China beijing key laboratory of Neural Regeneration and Repair Capital Medical UniversityBeijing 100069China

Copper is a microelement with important physiological functions in the ***,the excess copper ion(Cu^(2+))may cause severe health problems,such as hair cell apoptosis and the resultant hearing ***,the assay of Cu^(2+)is *** integrate ionic imprinting technology(IIT)and structurally colored hydrogel beads to prepare chitosan-based ionically imprinted hydrogel beads(IIHBs)as a low-cost and high-specificity platform for Cu^(2+)*** IIHBs have a macroporous microstructure,uniform size,vivid structural color,and magnetic *** incubated in solution,IIHBs recognize Cu^(2+)and exhibit a reflective peak change,thereby achieving label-free *** addition,benefiting from the IIT,the IIHBs display good specificity and selectivity and have an imprinting factor of 19.14 at 100μmol·L^(-1).These features indicated that the developed IIHBs are promising candidates for Cu^(2+)detection,particularly for the prevention of hearing loss.

关键词： Structural color Microfluidics Ionic imprinting Label-free detection Hearing loss