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Comprehensive newborn screening for severe combined immunodefciency,X‑linked agammaglobulinemia,and spinal muscular atrophy:the Chinese experience

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World Journal of Pediatrics 2024年第12期20卷 1270-1282页

作者： Chi Chen Chao Zhang Ding-Wen Wu Bing-Yi Wang Rui Xiao Xiao-Lei Huang Xin Yang Zhi-Gang Gao Ru-Lai Yang Department of Genetics and Metabolism Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouChina National Engineering Laboratory for Key Technology of Birth Defect Control and Prevention Screening and Diagnostic R and D CenterHangzhouChina

Background Newborn screening(NBS)for severe combined immunodefciency(SCID),X-linked agammaglobulinemia(XLA),and spinal muscular atrophy(SMA)enables early diagnosis and intervention,signifcantly improving patient *** in real-time polymerase chain reaction(PCR)technology have been instrumental in facilitating their inclusion in NBS *** We employed multiplex real-time PCR to simultaneously detect T-cell receptor excision circles(TRECs),kappadeleting recombination excision circles(KRECs),and the absence of the survival motor neuron(SMN)1 gene in dried blood spots from 103,240 newborns in Zhejiang Province,China,between July 2021 and December *** Of all the samples,122 were requested further *** fow cytometry evaluation and/or genetic diagnostics,we identifed one patient with SCID,two patients with XLA,nine patients with SMA[one of whom also had Wiskott–Aldrich Syndrome(WAS)],and eight patients with other medical *** positive predictive values(PPVs)of NBS for SCID,XLA,and SMA were 2.44%,2.78%,and 100%,*** estimated prevalence rates in the Chinese population were 1 in 103,240 for SCID,1 in 51,620 for XLA,and 1 in 11,471 for *** This study represents the frst large-scale screening in China's Mainland using a TREC/KREC/SMN1 multiplex assay,providing valuable epidemiological *** fndings suggest that this multiplex assay is an efective screening method for SCID,XLA,and SMA,potentially supporting the universal implementation of NBS programs across China.

关键词： Genetic diagnosis Newborn screening Severe combined immunodefciency Spinal muscular atrophy X-linked agammaglobulinemia

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Autologous cord blood mononuclear cells for preventing preterm complications in very preterm monozygotic twins: the first-in-human randomized, placebo-controlled, double-blinded phase I trial and long term follow-up outcomes

Autologous cord blood mononuclear cells for preventing prete...

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第二十次中国暨国际生物物理大会

作者： Zhuxiao.Ren Fang.Xu Jingjun.Pei Wei.Wei Shumei.Yang Jiangxue.Han Liling.Yang Qi.Zhang Gengying.Liu Liu.Yang Zhipeng.Liu Qiuping.Li Feng Zhichun Jie.Yang National Engineering Laboratory for Birth defects prevention and control of key technology

One-sentence summary This first-in-human randomized, placebo-controlled, double-blinded phase I clinical trial showed autologous cord blood mononuclear cells(ACBMNCs) infusion early after birth was feasible, safe and may alleviate preterm complications via a potent immunomodulatory *** Persistent inflammation is the common main contributor to the pathogenesis of preterm complications. Immunomodulation effect was an important mechanism underlying the beneficial results of stem cell therapy. We conducted a randomized, placebo-controlled, double-blinded phase I trial to establish whether autologous cord blood mononuclear cells(ACBMNCs) infusion was feasible, safe and may improve outcomes in very preterm monozygotic twins(VPMTs), and we assessed the immunoregulation effects via multi-omics approaches. Eight pairs of VPMTs received intravenous ACBMNCs or placebo within 24 hours after birth. ACBMNCs treatment was safely conducted, well tolerated, and led to a reduction trend in preterm complications. We found significant increase in Treg proportion, decreased inflammatory cytokines level, induced transcriptional up-regulation of processes facilitating Treg differentiation in immune cells, improved diversity and favorable components of lung microbiota after ACBMNCs infusion. Our findings nominated intravenous ACBMNCs intervention as a potent immunomodulatory and protective therapy for alleviating preterm complications.

关键词： very preterm monozygotic twins autologous cord blood mononuclear cells safety feasibility immunomodulation outcomes

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Regulatory mechanisms of dopamine metabolism in a marine Meyerozyma guilliermondii GXDK6 under NaCl stress as revealed by integrative multi-omics analysis

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Synthetic and Systems Biotechnology 2024年第1期9卷 115-126页

作者： Huijie Sun Huashan Bai Yonghong Hu Sheng He Ruihang Wei Duotao Meng Qiong Jiang Hongping Pan Peihong Shen Qian Ou Chengjian Jiang State Key Laboratory for Conservation and Utilization of Subtropical Agro-bioresources Guangxi Research Center for Microbial and Enzyme Engineering TechnologyCollege of Life Science and TechnologyGuangxi UniversityNanning530004China Guangxi Key Laboratory for Green Processing of Sugar Resources College of Biological and Chemical EngineeringGuangxi University of Science and TechnologyLiuzhou545006China Guangxi Key Laboratory of Birth Defects Research and Prevention Guangxi Key Laboratory of Reproductive Health and Birth Defect PreventionGuangxi Zhuang Autonomous Region Women and Children Health Care HospitalNanning530033China College of Food Science and Light Industry Nanjing Tech UniversityNo.30South Puzhu RoadNanjing211816China

Dopamine can be used to treat depression,myocardial infarction,and other ***,few reports are available on the de novo microbial synthesis of dopamine from low-cost *** this study,integrated omics technology was used to explore the dopamine metabolism of a novel marine multi-stress-tolerant aromatic yeast Meyerozyma guilliermondii ***6 was found to have the ability to biosynthesize dopamine when using glucose as the substrate.14 key genes for the biosynthesis of dopamine were identified by whole genome-wide *** and proteomic data showed that the expression levels of gene AAT2 encoding aspartate aminotransferase(regulating dopamine anabolism)were upregulated,while gene AO-I encoding copper amine oxidase(involved in dopamine catabolism)were downregulated under 10%NaCl stress compared with non-NaCl stress,thereby contributing to biosynthesis of ***,the amount of dopamine under 10%NaCl stress was 2.51-fold higher than that of zero NaCl,which was consistent with the multi-omics ***-time fluorescence quantitative PCR(RT-qPCR)and high-performance liquid chromatography(HPLC)results confirmed the metabolic model of ***,by overexpressing AAT2,AST enzyme activity was increased by 24.89%,the expression of genes related to dopamine metabolism was enhanced,and dopamine production was increased by 56.36%in recombinant *** conclusion,Meyerozyma guilliermondii GXDK6 could utilize low-cost carbon source to synthesize dopamine,and NaCl stress promoted the biosynthesis of dopamine.

关键词： Dopamine biosynthesis Multi-omics analysis NaCl stress Meyerozyma guilliermondii

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Improving chitosan-based composite membrane by introducing a novel hybrid functional nano-hydroxyapatite with carboxymethyl cellulose and phytic acid

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Frontiers of Chemical Science and engineering 2024年第6期18卷 1-15页

作者： Liuyun Jiang Yingjun Ma Shuo Tang Yuqing Wang Yan Zhang Shengpei Su Xiang Hu Jun He National&Local Joint Engineering Laboratory for New Petro-chemical Materials and Fine Utilization of Resources Key Laboratory of Chemical Biology&Traditional Chinese Medicine Research(Ministry of Education)College of Chemistry and Chemical EngineeringHunan Normal UniversityChangsha 410081China State Key Laboratory Developmental Biology of Freshwater Fish School of Life ScienceHunan Normal UniversityChangsha 410081China Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control Changsha Hospital for Matemal&Child Health Care Aiffiliated to Hunan Normal UniversityChangsha 410081China

A functional hybrid nano-hydroxyapatite(carboxymethyl cellulose-phytic acid-n-HA,CMC-PA-n-HA)was prepared by adding CMC and *** results of Fourier transformation infrared spectra,X-ray diffraction,thermal gravimetric analysis and dispersion experiments indicated that the addition of CMC and PA affected the morphology,crystallinity and crystal size of hybrid n-HA,and CMC endowed hybrid n-HA with excellent *** electron microscope results showed that CMC-PA-n-HA nanoparticle could be uniformly dispersed in chitosan(CS)matrix to obtain composite membrane by casting technology,so that the highest tensile strength of CMC-PA-n-HA/CS composite membrane was 69.64%and 144.45%higher than that of CS membrane and n-HA/CS composite membrane,*** angle test showed that CMC-PA-n-HA effectively improved hydrophilicity of the CS *** simulated body fluid immersion results indicated that the CMC-PA-n-HA/CS composite membrane not only exhibited good degradability but also promoted bone-like apatite *** cell proliferation experiments proved that the introduction of PA made the composite membrane have better cell adhesion and proliferation *** tests demonstrated that PA could effectively improve the antibacterial properties of the composite membrane,which is expected to be applied as guide bone tissue regeneration membrane.

关键词： nano-hydroxyapatite chitosan dispersion guide bone tissue regeneration membrane

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Disparities of Heatwave-Related Preterm birth in Climate Types—China,2012-2019

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China CDC weekly 2023年第49期5卷 1093-1099,I0001,I0002页

作者： Yafei Guo Yanxia Xie Xiaohui Wei Chenran Guo Peiran Chen Yanping Wang Yi Mu Xiaoming Shi Jun Zhu Juan Liang Qiyong Liu National Key Laboratory of Intelligent Tracking and Forecasting for Infectious Diseases National Institute for Communicable Disease Control and PreventionChinese Center for Disease Control and PreventionBeijingChina Chinese Center for Disease Control and Prevention Key Laboratory of Environment and Population Health National Institute of Environmental HealthChinese Center for Disease Control and PreventionBeijingChina National Office for Maternal and Child Health Surveillance of China West China Second University HospitalSichuan UniversityChengdu CitySichuan ProvinceChina Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University) Ministry of EducationChengdu CitySichuan ProvinceChina School of Public Health Nanjing Medical UniversityNanjing CityJiangsu ProvinceChina Chinese Center for Disease Control and Prevention BeijingChina.

What is already known about this topic?An association between prenatal heatwave exposure and the risk of preterm birth was ***,the disparities in heatwave-related preterm birth across different climate types have not been *** is added by this report?This nationwide case-crossover study investigated the association between heatwave exposure and preterm birth across different Köppen-Geiger climate *** pregnant women residing in the arid-desertcold climate type,exposure to compound heatwaves was found to be associated with a significantly higher risk of preterm birth{adjusted odds ratios(AORs)ranged from 1.55[95%confidence interval(CI):1.21-1.97]to 2.11(95%CI:1.35-3.31)}.In contrast,among pregnant women residing in the tropical monsoonal climate type,exposure to daytime-only heatwaves was associated with an increased risk of preterm birth[AORs ranged from 1.25(95%CI:1.03-1.51)to 1.37(95%CI:1.05-1.77)].

关键词： climate monsoon tropical

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Zinc finger-inspired peptide-metal-phenolic nanointerface enhances bone-implant integration under bacterial infection microenvironment through immune modulation and osteogenesis promotion

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Bioactive Materials 2024年第11期41卷 564-576页

作者： Lin Xu Jie Fang Jiezhou Pan Hexu Qi Yun Yin Yunxiang He Xueqi Gan Yifei Li Yu Li Junling Guo State Key Laboratory of Oral Diseases National Center for StomatologyNational Clinical Research Center for Oral DiseasesDepartment of OrthodonticsWest China Hospital of StomatologySichuan UniversityChengdu610041China Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE Department of Pediatric DentistryWest China Second University HospitalSichuan UniversityChengdu610041China BMI Center for Biomass Materials and Nanointerfaces College of Biomass Science and EngineeringSichuan UniversityChengdu610065China State Key Laboratory of Oral Diseases National Center for StomatologyNational Clinical Research Center for Oral DiseasesDepartment of ProsthodonticsWest China Hospital of StomatologySichuan UniversityChengdu610041China Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE Department of PediatricsWest China Second University HospitalSichuan UniversityChengdu610041China National Engineering Laboratory for Clean Technology of Leather Manufacture Sichuan UniversityChengdu610065China State Key Laboratory of Polymer Materials Engineering Sichuan UniversityChengdu610065China Bioproducts Institute Department of Chemical and Biological EngineeringThe University of British ColumbiaVancouverBCV6T 1Z4Canada

Orthopedic and dental implantations under bacterial infection microenvironment face significant challenges in achieving high-quality bone-implant integration. Designing implant coatings that incorporate both immune defense and anti-inflammation is difficult in conventional single-functional coatings. We introduce a multifunctional nanointerface using a zinc finger-inspired peptide-metal-phenolic nanocoating, designed to enhance implant osseointegration under such conditions. Abaloparatide (ABL), a second-generation anabolic drug for treating osteoporosis, can be integrated into the design of a zinc-phenolic network constructed on the implant surface (ABL@ZnTA). Importantly, the phenolic-coordinated Zn2+ ions in ABL@ZnTA can act as zinc finger motif to co-stabilize the configuration of ABL through multiple molecular interactions, enabling high bioactivity, high loading capacity (1.36 times), and long-term release (>7 days) of ABL. Our results showed that ABL@ZnTA can modulate macrophage polarization from the pro-inflammatory M1 towards the anti-inflammatory M2 phenotype, promoting immune osteogenesis with increased OCN, ALP, and SOD 1 expression. Furthermore, the ABL@ZnTA significantly reduces inflammatory fibrous tissue encapsulation and enhances the long-term stability of the implants, indicated by enhanced binding strength (6 times) and functional connectivity (1.5−3 times) in the rat bone defect model infected by S. aureus. Overall, our research offers a nano-enabled synergistic strategy that balances infection defense and osteogenesis promotion in orthopedic and dental implantations.

关键词： Metal-phenolic network Implant Osseointegration Inflammation Abaloparatide

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Circulation patterns and molecular characteristics of respiratory syncytial virus among hospitalized children in Tianjin,China,before and during the COVID-19 pandemic(2017–2022)

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Virologica Sinica 2024年第5期39卷 719-726页

作者： Mengzhu Hou Guangping Liu Chao Meng Lili Dong Yulian Fang Lu Wang Ning Wang Chunquan Cai Hanjie Wang Tianjin Pediatric Research Institute Tianjin Children's Hospital(Children's Hospital of Tianjin University)Tianjin Key Laboratory of Birth Defects for Prevention and TreatmentTianjin300134China Graduate School Tianjin University of Traditional Chinese MedicineTianjin301617China Department of Medical Laboratory Tianjin Second People's HospitalTianjin300192China Department of Respiratory Tianjin Children's Hospital(Children's Hospital of Tianjin University)Tianjin300134China School of Life Sciences Tianjin University and Tianjin Engineering Center of Micro-Nano Biomaterials and Detection-Treatment TechnologyTianjin Key Laboratory of Function and Application of Biological Macromolecular StructuresTianjin300072China

Respiratory syncytial virus(RSV)is the main pathogen that causes hospitalization for acute lower respiratory tract infections(ALRIs)in *** the reopening of communities and schools,the resurgence of RSV in the COVID-19 post-pandemic era has become a major *** understand the circulation patterns and genotype variability of RSV in Tianjin before and during the COVID-19 pandemic,a total of 19,531 nasopharyngeal aspirate samples from hospitalized children in Tianjin from July 2017 to June 2022 were *** immunoﬂuorescence and polymerase chain reaction(PCR)were used for screening RSV-positive samples and subtyping,*** analysis of mutations in the second hypervariable region(HVR2)of the G gene was performed through Sanger *** results showed that 16.46%(3215/19,531)samples were RSV positive and a delayed increase in the RSV infection rates occurred in the winter season from December 2020 to February 2021,with the average RSV-positive rate of 35.77%(519/1451).The ON1,with H258Q and H266L substitutions,and the BA9,with T290I and T312I substitutions,are dominant strains that alternately circulate every 1–2 years in Tianjin,China,from July 2017 to June *** addition,novel substitutions,such as N296Y,K221T,N230K,V251A in the BA9 genotype,and L226I in the ON1 genotype,emerged during the COVID-19 *** of clinical characteristics indicated no signiﬁcant differences between RSV-A and RSV-B *** study provides a theoretical basis for clinical prevention and ***,further studies are needed to explore the regulatory mechanism of host immune responses to different lineages of ON1 and BA9 in the future.

关键词： Respiratory syncytial viruse(RSV) Child Hospitalized Molecular epidemiology Genotype COVID-19

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Biallelic inactivation of SDHA results in comorbidity of pediatric recurrent neuroblastoma and gastric stromal tumor

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Genes & Diseases 2024年第6期11卷 99-102页

作者： Shen Yang Shixuan Zhang Wen Zhao Libing Fu Li Zhang Chan Hon Chui Ruolan Guo Yan Su Dayan Sun Huanmin Wang Department of Oncology Surgery Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China State Key Laboratory of Genetic Engineering Collaborative Innovation Center for Genetics and DevelopmentSchool of Life Sciences and Human Phenome InstituteFudan UniversityShanghai 200438China Hematology Oncology Center Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing100045China Department of Pathology Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China Shanghai Institute of Precision Medicine Shanghai Jiao Tong University School of MedicineShanghai 200011China Surgery Centre for Children Mount Elizabeth Medical Centre228510Singapore Beijing Key Laboratory for Genetics of Birth Defects Beijing Pediatric Research instituteMOE Key Laboratory of Major Diseases in ChildrenGenetics and Birth Defects Control CenterBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China Department of Neonatal Surgery Beijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China MOE Key Laboratory of Major Diseases in Children Beijing Children's HospitalCapital Medical UniversityNational Centerfor Children's HealthBeijing 100045China

Neuroblastoma(NB)is a common pediatric extracranial solid tumor that exhibits varied characteristics,clinical features,and prognosis.1 Totally 1%-2%of cases show familial history with genetic links like ALK,PHOX2B mut... 详细信息

关键词： pediatric neoplasms neuroblastoma

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A biologically stable, self-catalytic DNAzyme machine encapsulated by metal-phenolic nanoshells for multiple microRNA imaging

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Chinese Chemical Letters 2023年第10期34卷 197-203页

作者： Xin Jin Qin Wang Jiezhou Pan Jin Wang Yunxiang He Jiaojiao Shang Mei Chen Xianglian He Yaoyao Zhang Bo Wang Yajie Wang Guidong Gong Junling Guo BMI Center for Biomass Materials and Nanointerfaces College of Biomass Science and EngineeringSichuan UniversityChengdu 610065China School of Pharmacy Southwest Minzu UniversityChengdu 610225China Department of Chemical and Biological Engineering Bioproducts InstituteUniversity of British ColumbiaVancouver BC V6T 1Z4Canada State Key Laboratory of Polymer Materials Engineering Sichuan UniversityChengdu 610065China National Engineering Laboratory for Clean Technology of Leather Manufacture Sichuan UniversityChengdu 610065China Department of Obstetrics and Gynecology Key Laboratory of Birth Defects and Related of Women and Children of Ministry of EducationThe Reproductive Medical CenterWest China Second University HospitalSichuan UniversityChengdu 610041China CAS Key Laboratory of Quantitative Engineering Biology Shenzhen Institute of Synthetic BiologyShenzhen Institutes of Advanced TechnologyChinese Academy of SciencesShenzhen 518055China School of Engineering Westlake UniversityHangzhou 310034China

DNAzyme machines play critical roles in the fields of cell imaging, disease diagnosis, and cancer therapy. However, the applications of DNAzyme machines are limited by the nucleases-induced degradation,non-specific binding of proteins, and insufficient provision of cofactors. Herein, protected DNAzyme machines with different cofactor designs(referred to as Pro Ds) were nanoengineered by the construction of multifunctional metal-phenolic nanoshells to deactivate the interferential proteins, including nucleases and non-specific binding proteins. Moreover, the nanoshells not only facilitate the cellular internalization of Pro Ds but provide specific metal ions acting as cofactors of the designed DNAzymes. Cellular imaging results demonstrated that Pro Ds could effectively and simultaneously monitor multiple tumor-related micro RNAs in living cells. This facile and rapid strategy that encapsulates DNAzyme machines into the protective metal-phenolic nanoshells is anticipated to extend to a wide range of functional nucleic acidsbased biomedical applications.

关键词： DNAzyme machine Metal-phenolic nanoshells Interference protection Cofactors self-supply Cell imaging

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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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Chinese Medical Journal 2024年第16期137卷 1976-1978页

作者： Xiuwei Ma Lu Zhuang Wenhao Ma Jun Li Xiaodong Wang Zhongqiu Li Xinyang Jiang Yongxia Wang Ying Du Yingqian Zhang Fang He Zhiming Zhu Shaopeng Du Juan Xu Ruijie Gu Yanping Zhang Shan Zhang Ting Li Xiao Yang Sheng Zhang Lina Zhu Qiuping Li Xiaoyan Dong Xiaobing Wu Zhichun Feng Department of Neurodevelopment Faculty of PediatricsThe Seventh Medical Center of Chinese PLA General HospitalBeijing 100700China National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology Beijing 100700China Research and Development Division Genecradle Therapeutics Inc.Beijing 100176China Medical Division Genecradle Therapeutics Inc.Beijing 100176China Department of Pharmacy Medical Supplies Center of Chinese PLA General HospitalBeijing 100700China Beijing Key Laboratory of Pediatric Organ Failure Beijing 100700China

Spinal muscular atrophy(SMA),a neurodegenerative disorder caused by mutations in survival motor neuron 1(SMN1)resulting in reduced expression of the survival motor neuron(SMN)protein,is inherited in an autosomal recessive *** type 1 is the most frequent subtype of SMA characterized by onset before 6 months of life,inability to achieve independent sitting,and rapidly progressive respiratory and bulbar deterioration,causing a mortality of>90%before 2 years of age.[1]Currently,there have been two lifelong splice-modifying therapies(nusinersen and risdiplam),and a single-dose gene replacement therapy via intravenous onasemnogene abeparvovec for SMA type 1 patients.

关键词： injection mortality muscular

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