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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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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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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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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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Medication use in the neonatal intensive care unit in a tertiary hospital in China from 2020 to 2023

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Italian Journal of Pediatrics 2025年第1期51卷 1-9页

作者： Wang, Yi Song, Linhong Wang, Yanhua Li, Jun Xie, Yuanyuan Yan, Lei Zhou, Huixia Hu, Siqi Institute of Pediatrics Faculty of Pediatrics The Seventh Medical Center of PLA General Hospital Beijing China National Engineering Laboratory for Birth Defect Prevention and Control of Key Technology Beijing China Beijing Key Laboratory of Pediatric Organ Failure Beijing China Department of Pediatric Cardiac Surgery Faculty of Pediatrics The Seventh Medical Center of PLA General Hospital Beijing China Department of Pediatric Urology Faculty of Pediatrics The Seventh Medical Center of PLA General Hospital Beijing China

Background: The use of medication in the neonatal intensive care unit (NICU) is a complex field that requires special attention, as neonatal patients may have different sensitivities and responses to drugs than adults and older children. The administration of medication in the NICU must consider various factors, including the dosage of the medication, the route of administration, monitoring, and potential drug interactions. Methods: In this study, we conducted a retrospective analysis of medication use in the neonatal intensive care unit of 122 preterm infants treated in our hospital from 2020 to 2023. Results: Correlation analysis revealed that among perinatal clinical characteristics, birth weight was moderately positively correlated with gestational age, with a correlation coefficient greater than that of birth weight with the Apgar score. The top 3 medication types in the NICU were “vitamins, nutritional drugs, enzyme preparations and drugs that regulate water, electrolytes, and acid-base balance”, “blood hematopoietic system medications”, and “antimicrobial medications”. From 2020 to 2023, the most commonly used drugs in the NICU were vitamin AD (vitamin A and vitamin D) drops and calcium gluconate injections. In addition, we demonstrated that the most commonly prescribed off-label drugs were vitamins, water and electrolyte balance nutrition drugs, and blood circulation system drugs. Conclusions: Our retrospective study will not only help identify and evaluate interventions to reduce medication errors but also aid healthcare systems and providers in understanding, implementing, and enhancing these interventions to improve the safety and quality of care for newborns. Nonetheless, further research is needed to assess the relative cost-effectiveness of various medication safety interventions to facilitate their adoption and implementation in the decision-making process. © The Author(s) 2025.

关键词： Clinical pharmacology Neonatal intensive care unit Off-label drug Pharmacotherapy Trends over time

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Exploring the Efficacy of BMSC Transplantation via Various Pathways for Treating Cholestatic Liver Fibrosis in Mice

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Biomedical and Environmental Sciences 2025年第4期38卷 447-458页

作者： Junjie Ren Zixu Li Xinrui Shi Tingting Lyu Xiaonan Li Min Ge Qizhi Shuai Tingjuan Huang Department of Gastroenterology and Hepatology The First Hospital of Shanxi Medical UniversityTaiyuan 030001ShanxiChina Department of Academy of Medical Sciences Shanxi Medical UniversityTaiyuan 030001ShanxiChina Liver Research Center Beijing Friendship HospitalCapital Medical UniversityBeijing Key Laboratory of Translational Medicine on Liver CirrhosisNational Clinical Research Center for Digestive DiseaseBeijing 100050China Department of Cancer Radiotherapy Fifth Hospital of Shanxi Medical UniversityTaiyuan 030001ShanxiChina School of Clinical Medicine Medical CollegeHebei University of EngineeringHandan 056038HebeiChina Department of Biochemistry and Molecular Biology Shanxi Key Laboratory of Birth Defect and Cell RegenerationMOE Key Laboratory of Coal Environmental Pathogenicity and PreventionShanxi Medical UniversityTaiyuan 030001ShanxiChina Department of Hepatopancreatobiliary Surgery First Hospital of Shanxi Medical University Key Laboratory of Birth Defect and Cell RegenerationShanxi Medical UniversityTaiyuan 030001ShanxiChina

Objective To compare the therapeutic efficacy of portal and tail vein transplantation of bone marrowderived mesenchymal stem cells(BMSCs) against cholestatic liver fibrosis in *** BMSCs were isolated and co-cultured with starvation-activated hepatic stellate cells(HSCs).HSC activation markers were identified using immunofluorescence and qRT-PCR. BMSCs were injected into the liver tissues of bile duct ligation(BDL) mice via the tail and portal veins. Histomorphology, liver function, inflammatory cytokines, and the expression of key proteins were all determined in the liver *** BMSCs inhibited HSC activation by reducing α-SMA and collagen I expression. Compared to tail vein injection, DIL-labeled BMSCs injected through the portal vein maintained a high homing rate in the liver. Moreover, BMSCs transplanted through the portal vein resulted in greater improvement in liver color, hardness, and gallbladder size than did those transplanted through the tail vein. Furthermore,BMSCs injected by portal vein, but not tail vein, markedly ameliorated liver function, reduced the secretion of inflammatory cytokines, including TNF-α, IL-6, and IL-1β, and decreased α-SMA + hepatic stellate cell(HSC) activation and collagen fiber *** The therapeutic effect of BMSCs on cholestatic liver fibrosis in mice via portal vein transplantation was superior to that of tail vein transplantation. This comparative study provides reference information for further BMSC studies focused on clinical cholestatic liver diseases.

关键词： Bone marrow mesenchymal stem cells Portal vein Tail vein Cholestatic hepatic fibrosis Administration route

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A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

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World Journal of Pediatrics 2023年第7期19卷 663-673页

作者： Ru-Lai Yang Gu-Ling Qian Ding-Wen Wu Jing-Kun Miao Xue Yang Ben-Qing Wu Ya-Qiong Yan Hai-Bo Li Xin-Mei Mao Jun He Huan Shen Hui Zou Shu-Yuan Xue Xiao-Ze Li Ting-Ting Niu Rui Xiao Zheng-Yan Zhao National Clinical Research Center for Child Health Children's HospitalZhejiang University School of MedicineHangzhouChina Chongqing Health Center for Women and Children Neonatal Screening CenterChongqingChina Guiyang Maternal and Child Health Hospital GuiyangChina University of the Chinese Academy of Science Shenzhen HospitalShenzhen 518000GuangdongChina Shanxi Children's Hospital Shanxi Maternal and Child Health Hospital TaiyuanShanxiChina The Central Laboratory of Birth Defects Prevention and Control Ningbo Women and Children's HospitalNingbo 315012ZhejiangChina Maternal and Child Health Hospital of Ningxia Hui Autonomous Region YinchuanChina Changsha Maternal and Child Health Hospital ChangshaHunanChina Yunnan Maternal and Child Health Hospital KunmingYunanChina Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University JinanShandongChina Urumqi Maternal and Child Health Care Hospital Xinjiang Uygur Autonomous RegionUrumqi CityChina Medical Genetic Center Changzhi Maternal and Child Health Care HospitalChangzhiShanxiChina Maternal and Child Health Care Hospital of Shandong Province JinanShandongChina National Engineering Laboratory for Key Technology of Birth Defect Control and Prevention Screening and Diagnostic R and D CenterHangzhouChina

Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn *** develop-ment of next-generation sequencing(NGS)technology provides new opportunities to expand current newborn screening *** We designed a a newborn genetic screening(NBGS)panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with *** this panel,a large-scale,multicenter,prospective multidisease analysis was conducted on dried blood spot(DBS)profiles from 21,442 neonates *** We presented the positive detection rate and carrier frequency of diseases and related variants in different regions;and 168(0.78%)positive cases were ***-6-Phosphate Dehydrogenase deficiency(G6PDD)and phenylketonuria(PKU)had higher prevalence rates,which were significantly different in different *** positive detection of G6PD variants was quite common in south China,whereas PAH variants were most commonly identified in north *** addi-tion,NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants,which were normal in conventional NBS,but were confirmed later as abnormal in repeated biochemical testing after *** percent of high-frequency gene carriers and 60%of high-frequency variant carriers had obvious regional *** the premise that there was no significant difference in birth weight and gestational age,the biochemical indicators of SLC22A5 c.1400C>G and ACADSB c.1165A>G carriers were significantly different from those of *** We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS *** data also showed that the prevalence of diseases has significant regional charac-teristics,which provides a theoretical basis for screening diseases in di

关键词： Monogenic genetic diseases Newborn screening Next-generation sequencing Monogenic genetic diseases Regional features

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LonP1 Links Mitochondria–ER Interaction to Regulate Heart Function

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Research 2024年第1期2023卷 595-609页

作者： Yujie Li Dawei Huang Lianqun Jia Fugen Shangguan Shiwei Gong Linhua Lan Zhiyin Song Juan Xu Chaojun Yan Tongke Chen Yin Tan Yongzhang Liu Xingxu Huang Carolyn K.Suzuki Zhongzhou Yang Guanlin Yang Bin Lu The Affiliated Nanhua Hospital and School of Basic Medical Sciences Hengyang Medical SchoolUniversity of South ChinaHengyangHunan 421001China School of Laboratory Medicine and Life Sciences Wenzhou Medical UniversityWenzhouZhejiang 325035China National Health Commission Key Laboratory of Birth Defect Research and Prevention Hunan Provincial Maternal and Child Health Care HospitalChangshaHunan 410008China Key Laboratory of Ministry of Education for TCM Viscera-State Theory and Applications Ministry of Education of ChinaLiaoning University of Traditional Chinese MedicineShenyangLiaoning 110847China Key Laboratory of Diagnosis and Treatment of Severe Hepato-Pancreatic Diseases of Zhejiang Province The First Affiliated Hospital of Wenzhou Medical UniversityWenzhouZhejiangChina Hubei Key Laboratory of Cell Homeostasis College of Life SciencesWuhan UniversityWuhanHubei 430072China Nanjing Maternity and Child Health Care Hospital Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical UniversityNanjing 210004China Animal Center Wenzhou Medical UniversityWenzhouZhejiang 325035China Department of Cardiology The First Affiliated Hospital of University of South ChinaHengyangHunanChina School of Life Science and Technology Shanghai Tech UniversityShanghai 201210China Department of Microbiology Biochemistry and Molecular GeneticsNew Jersey Medical School-RutgersThe State University of New JerseyNewarkNJUSA State Key Laboratory of Pharmaceutical Biotechnology Department of CardiologyNanjing Drum Tower HospitalThe Affiliated Hospital of Nanjing University Medical School and MOE Key Laboratory of Model Animal for Disease StudyModel Animal Research CenterNanjing UniversityNanjing 210061China

Interorganelle contacts and communications are increasingly recognized to play a vital role in cellular function and *** particular,the mitochondria–endoplasmic reticulum(ER)membrane contact site(MAM)is known to regulate ion and lipid transfer,as well as signaling and organelle ***,the regulatory mechanisms of MAM formation and their function are still ***,we identify mitochondrial Lon protease(LonP1),a highly conserved mitochondrial matrix protease,as a new MAM tethering *** removal of LonP1 substantially reduces MAM formation and causes mitochondrial ***,deletion of LonP1 in the cardiomyocytes of mouse heart impairs MAM integrity and mitochondrial fusion and activates the unfolded protein response within the ER(UPR^(ER)).Consequently,cardiac-specific LonP1 deficiency causes aberrant metabolic reprogramming and pathological heart *** findings demonstrate that LonP1 is a novel MAM-localized protein orchestrating MAM integrity,mitochondrial dynamics,and UPR^(ER),offering exciting new insights into the potential therapeutic strategy for heart failure.

关键词： offering programming insight

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Future of Reproductive Genetics

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Fertility and Reproduction 2025年第0期 13-15页

作者： Wang, Jiahui Ni, Tianxiang Yan, Junhao State Key Laboratory of Reproductive Medicine and Offspring Health Center for Reproductive Medicine Institute of Women Children and Reproductive Health Shandong University Shandong Ji'nan 250012 China National Research Center for Assisted Reproductive Technology and Reproductive Genetics Shandong University Shandong Ji'nan 250012 China Key Laboratory of Reproductive Endocrinology Shandong University Ministry of Education Shandong Ji'nan 250012 China Shandong Technology Innovation Center for Reproductive Health Shandong Ji'nan 250012 China Shandong Provincial Clinical Research Center for Reproductive Health Shandong Ji'nan 250012 China Shandong Key Laboratory of Reproductive Research and Birth Defect Prevention Shandong Ji'nan 250012 China Research Unit of Gametogenesis and Health of ART-Offspring Chinese Academy of Medical Sciences (No. 2021RU001) Shandong Ji'nan 250012 China

The history and development of reproductive genetics span centuries of scientific exploration and technological innovation. Today, the importance of offspring health and further understanding of the relevant molecular mechanisms and interdisciplinary knowledge have led to significant advancements, which are gradually appearing in clinical settings. However, whether this rapid progress in reproductive genetics could lead to technical, ethical, and economic problems warrants evaluation. This brief review introduces a range of approaches to reproductive genetics, from the earliest to the most recent, and discusses future concerns regarding the large-scale use of emerging reproductive genetic tools. © 2025 Asia Pacific Initiative on Reproduction (ASPIRE).

关键词： Artificial Intelligence (AI) Ethics Genetic Preimplantation Genetic Testing (PGT) Reproductive Genetics

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Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China

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Heliyon 2024年第20期10卷 e38802页

作者： Li, Jingyu Zhou, Shiyu Pei, Jiahong Li, Wanzhen Cui, Rongjie Ren, Xiaofei Wei, Jingru Li, Qian Zhu, Baosheng Sa, Yaliang Li, Yunlong Department of Medical Genetics the First People's Hospital of Yunnan Province Yunnan Kunming China the Affiliated Hospital of Kunming University of Science and Technology No.157 Jinbi Road Yunnan Kunming 650032 China National Health Commission Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China Yunnan Kunming China

Hearing loss is a common disease. More than 100 genes have been reported to be associated with hereditary hearing loss. However, the distribution of these genes and their variants across diverse populations remains unclear. In this study, we gathered 347 hearing-impaired patients from four language families (Sinitic, Tibeto-Burman, Kra-Dai, and Hmong-Mien) in Southwestern China, excluding cases caused by common mutations in the GJB2 gene. By using next generation sequencing, 122 genes associated with hereditary hearing loss were analyzed on these patients. Rare candidate variants were identified in 71.93 % (264/347) of patients with hearing loss. The diagnostic rate varied around 10 % across different language families. The most frequently identified causative genes in successfully diagnosed cases were SLC26A4, MYO7A and TMPRSS3. Moreover, a substantial number of variants of unknown significance (VUS) were identified in our patient cohort. This underscores the critical need for establishing ethnicity-specific genomic databases for hearing loss. It will significantly improve the clinical diagnostic rate for hearing loss in this region. © 2024 The Authors

关键词： Diagnostic rate Ethnicity Hearing loss Next generation sequencing Variants of unknown significance (VUS)

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