检索结果-南通市图书馆

newborn screening with targeted sequencing:a multicenter investigation and a pilot clinical study in China

Journal of Genetics and Genomics 2022年第1期49卷 13-19页

作者： Chanjuan Hao Ruolan Guo Xuyun Hu Zhan Qi Qi Guo Xuanshi Liu Yuanhu Liu Yanhua Sun Xiaofen Zhang Feng Jin Xiujie Wu Ren Cai Dingyuan Zeng Xijiang Hu Xiaohua Wang Xiaoping Ji Wenjie Li Quansheng Xing Lanfang Mu Xiulian Jiang Xue Yang Weimin Yang Yan Zhang Qianli Yin Xin Ni Wei Li Beijing Key Laboratory for Genetics of Birth Defects Beijing Pediatric Research InstituteBeijing 100045China MOE Key Laboratory of Major Diseases in Children Beijing 100045China Rare Disease Center National Center for Children’s HealthBeijing 100045China Beijing Children’s Hospital Capital Medical UniversityBeijing 100045China Shunyi Women and Children’s Healthcare Hospital of Beijing Children’s Hospital Beijing 101300China Liuzhou Maternal and Child Healthcare Hospital LiuzhouGuangxi 545001China Wuhan Maternal and Child Healthcare Hospital Tongji Medical CollegeHuazhong University of Science&TechnologyWuhanHubei 430016China Inner Mongolia Maternity and Child Healthcare Hospital HohhotInner Mongolia Autonomous Region 010020China Qingdao Women and Children’s Hospital QingdaoShandong 266012China Qinghai Maternal and Child Health Hospital XiningQinghai 810007China Guiyang Maternity and Child Healthcare Hospital GuiyangGuizhou 550003China Urumqi First People’s Hospital UrumqiXinjiang 830011China

Different newborn screening(NBS) programs have been practiced in many countries since the 1960 s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence, and potentially actionable severe inherited diseases in our newborn screening with Targeted Sequencing(NESTS) program to screen 11,484 babies in 8 Women and Children’s hospitals nationwide in China retrospectively. The positive rate from preliminary screening of NESTS was 7.85%(902/11,484). With 45.89%(414/902) follow-up of preliminary positive cases, the overall clinically confirmative diagnosis rate of monogenic disorders was 12.07%(50/414), estimating an average of 0.95%(7.85% × 12.07%) clinical diagnosis rate, suggesting that monogenic disorders account for a considerable proportion of birth defects. The disease/gene spectrum varied in different regions of China. NESTS was implemented in a hospital by screening 3923 newborns to evaluate its clinical application. The turn-around time of a primary report, including the sequencing period of < 7 days, was within 11 days by our automatic interpretation pipeline. Our results suggest that NESTS is feasible and cost-effective as a first-tier NBS program, which will change the status of current clinical practice of NBS in China.

关键词： newborn screening Next-generation sequencing Targeted sequencing Monogenic disorders Clinical practice

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

newborn screening for genetic disorders:Current status and prospects for the future

引用

Pediatric Investigation 2022年第4期6卷 291-298页

作者： Si Ding Lianshu Han Department of Pediatric Endocrinology and Genetic Metabolism Xinhua HospitalShanghai Institute of Pediatric ResearchShanghai Jiao Tong University School of MedicineShanghaiChina

newborn screening(NBS)is a public health service aimed at identifying infants with severe genetic disorders,thus providing effective treatment early enough to prevent or ameliorate the onset of *** NBS uses biochemical analysis of dried blood spots,predominately with timeresolved fluorescence immunoassay and tandem mass spectrometry,which produces some false positives and false *** application of enzymatic activity-based testing technology provides a reliable screening method for some *** testing is now commonly used for secondary or confirmatory testing after a positive result in some NBS ***,next-generation sequencing(NGS)has emerged as a robust tool that enables large panels of genes to be scanned together *** advances in NGS emphasize the potential for genomic sequencing to improve NBS ***,some challenges still remain and require solution before this is applied for population screening.

关键词： Genetic disorders Genetic testing newborn screening Next-generation sequencing Tandem mass spectrometry

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

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

引用

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

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

newborn screening in Zhejiang, China

引用

Chinese Medical Journal 2012年第4期125卷 702-704页

作者： Maitusong, Riziwanguli Japaer, Rukeya Zhao Zheng-yan Yang Ru-lai Huang Xiao-lei Mao Hua-qing Zhejiang Univ Sch Med Dept Neonatal Screening Childrens Hosp Hangzhou 310003 Zhejiang Peoples R China Zhejiang Univ Sch Biosyst Engn & Food Sci Hangzhou 310029 Zhejiang Peoples R China

Background It has been 11 years since newborn screening started in Zhejiang in *** aim of this study was to analyze and summarize the status of newborn screening in Zhejiang from 1999 to *** Blood samples were collected from the heels of newborns 72 hours after *** have conducted laboratory tests that the congenital hypothyroidism （CH） and circulating levels of thyroid-stimulating hormone （TSH） was *** phenylalanine （Phe） was detected for phenylketonuria （PKU）.Dissociation-enhanced lanthanide fluorescent immunoassay （DELFIA） was used for *** From 1999 to 2009,3875228 newborns were screened and 2309 cases were confirmed as CH and 155 cases were confirmed as *** incidence of CH and PKU were 1：1678 and 1：25 001 *** In 11 years,the Zhejiang newborn screening center screened more than 3.8 million newboms,and helped more than 2000 CH and PKU patients to obtain early treatment in order to prevent physical disability and mental retardation.

关键词： newborn screening congenital hypothyroidism phenylketonuria

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

newborn screening for galactosemia:a 30-year single center experience

引用

World Journal of Pediatrics 2015年第2期11卷 160-164页

作者： Francesco Porta Severo Pagliardini Veronica Pagliardini Alberto Ponzone Marco Spada Department of Pediatrics University of TorinoTorinoItaly

Background:Galactosemia due to complete or near-complete galactose-l-phosphate uridyltransferase(GALT)deficiency was the first disorder added to the pioneering newborn screening panel besides *** the last 50 years,many criticisms have been focused on the opportunity of its ***,long-term single center experiences with this issue are generally ***:We reviewed the outcome of newborn screening for hypergalactosemia performed at our department since 1982 and the correspondent long-term clinical ***:Among 1123909 newborns screened for hypergalactosemia,33 showed abnormal results confirmed at second tier *** patients were affected with classic galactosemia,8 partial GALT deficiency,3 severe galactokinase deficiency,7 transient galactosemia,one congenital porto-systemic shunt,and one glucose transporter 2 *** neonatal liver failure in the late first week of life(5.8±1.1 days)unavoidably complicated the clinical course of classic galactosemia,unless in three second-born siblings treated on the basis of presumptive diagnosis immediately after newborn screening sample collection on day *** early treatment and longterm steadily normal peripheral blood galactose,77%of patients with severe GALT deficiency present mild to severe intellectual *** patients with partial GALT deficiency showed normal intellectual development on a regular diet,as well as patients with galactokinase deficiency under ***:Availability of screening results within the fifth day after birth would allow the prevention of acute decompensation in classic galactosemia.A systematic diagnostic work-up in all positive newborns is essential to unravel the etiology of hypergalactosemia.

关键词： galactose galactosemia liver failure mental retardation newborn screening

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Phenylketonuria in Hong Kong Chinese： a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China

引用

Chinese Medical Journal 2011年第16期124卷 2556-2558页

作者： Chloe Miu Mak Chun-hung Ko Ching-wan Lam Wai-ling Lau Wai-kwan Siu Sammy Pak-lam Chen Chun-yiu Law Chi-kong Lai Chak-man Yu Albert Yan-wo Chan Kowloon West Cluster Laboratory Genetic Service ChemicalPathology Laboratory Department of Pathology Princess MargaretHospital Hong Kong China Department of Paediatrics and Adolescent Medicine CaritasMedical Centre Hong Kong China Department of Pathology Li Ka Shing Faculty of Medicine TheUniversity of Hong Kong Hong Kong China

Hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15 000 live births. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians. Exact diagnosis is important for the treatment and genetic counseling. In 2000, newborn screening for phenylketonuria is mandatory by law in China throughout the whole country. However, it is not yet included in the newborn screening program of the Hong Kong Special Administrative Region, China. Published data on hyperphenylalaninemia among Hong Kong Chinese are largely lacking. We report a 1-year-old Hong Kong Chinese girl with severe 6-pyruvoyl-tetrahydropterin synthase （PTPS） deficiency. The patient presented with infantile hypotonia and was misdiagnosed as cerebral palsy. She had very mild hyperphenylalaninemia （95 IJmol/L）, significantly high phenylalnine-to-tyrosine ratio （3.1）, and ele~,ated prolactin of 1109 m lU/L. Genetic analysis confirmed a homozygous known disease-causing mutation PTS NM_000317.1： c.259C〉T; NP_000308.1： p.P87S in the proband. In our local experience, while the estimated prevalence of hyperphenylalaninemia due to PTPS deficiency was reported to be 1 in 29 542 live births, not a single case of phenylalanine hydroxylase deficiency has been reported. Furthermore, there is a general lack of awareness of inherited metabolic diseases in the community as well as among the medical professionals. Very often, a low index of clinical suspicion will lead to delay in diagnosis, multiple unnecessary and costly investigations, prolonged morbidity and anxiety to the family affected. We strongly recommend that expanded newborn screening for hyperphenylalaninemia should be implemented for every baby born in the Hong Kong Special Administrative Region, China.

关键词： Hong Kong Chinese hyperphenylalaninemia newborn screening phenylketonuria 6-pyruvoyl-tetrahydropterin synthase deficiency

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Mucopolysaccharidosis typeⅢB:a current review and exploration of the AAV therapy landscape

引用

Neural Regeneration Research 2024年第2期19卷 355-359页

作者： Courtney J.Rouse Victoria N.Jensen Coy D.Heldermon Lacerta Therapeutics AlachuaFLUSA University of Florida College of Medicine GainesvilleFLUSA

Mucopolysaccharidoses typeⅢB is a rare genetic disorder caused by mutations in the gene that encodes for *** results in the aggregation of heparan sulfate polysaccharides within cell lysosomes that leads to progressive and severe debilitating neurological *** treatment options are expensive,limited,and presently there are no approved cures for mucopolysaccharidoses typeⅢ***-associated virus gene therapy has significantly advanced the field forward,allowing researchers to successfully design,enhance,and improve potential *** group recently published an effective treatment using a codon-optimized triple mutant adeno-associated virus 8 vector that restores N-acetyl-alpha-glucosaminidase levels,auditory function,and lifespan in the murine model for mucopolysaccharidoses typeⅢB to that seen in healthy ***,we review the current state of the field in relation to the capsid landscape,adeno-associated virus gene therapy and its successes and challenges in the clinic,and how novel adenoassociated virus capsid designs have evolved research in the mucopolysaccharidoses typeⅢB field.

关键词： adeno-associated virus central nervous system gene therapy heparan sulfate immune response mucopolysaccharidoses type IIIB N-acetyl-alpha-glucosaminidase newborn screening

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

FMR1 allele frequencies in 51,000 newborns:a large-scale population study in China

引用

World Journal of Pediatrics 2021年第6期17卷 653-658页

作者： Jin-Yu Zhang Ding-Wen Wu Ru-Lai Yang Lin Zhu Meng-Yi Jiang Wen-Jun Wang Xue-Kun Li Xiao-Ling Jiang Fan Tong Qiang Shu Children's Hospital School of MedicineZhejiang UniversityHangzhou 310052China Institute of Translational Medicine School of MedicineZhejiang UniversityHangzhou 310029China National Clinical Research Center for Child Health Hangzhou 310052China Hangzhou Biosan Clinical Laboratory 859 Shixiang West RoadHangzhou 310007China Children's Hospital Zhejiang University School of Medicine3333 Binsheng RdBinjiang DistrictHangzhou 310000China

Background Fragile X syndrome(FXS).caused by CGG-repeat expansion in FMR1 promoter,is one of the most common causes of mental *** with full mutation and premutation alleles have a high risk of psychophysiological disorder and of having affected *** of FMR1 alleles in general newborns have been reported in Caucasians but have not been investigated in the large-scale population in the mainland of *** The sizes of FMRI CGG-repeats were analyzed in 51,661 newborns(28,114 males and 23,547 females)and also in a cohort of 33 children diagnosed with developmental delay using GC-rich polymerase chain reaction(PCR)and triple repeat primed *** The frequency of CGG repeats>100 was 1/9371 in males and 1/5887 in females,and the frequency of CGG repeats>54 was 1/1561 in males and 1/1624 in *** full mutation and premutation were identified in 27.27%of children who had Ages and Stages Questionnaire scores less than two standard deviations from the cutoff *** Our study revealed the prevalence of FXS in China and improved the sample databases of FXS,suggesting that the prevalence of FXS in Chinese is higher than estimated previously and that FXS screening can be advised to high-risk families.

关键词： China Fragile X syndrome Fragile X mental retardation 1(FMRI)gene newborn screening Population frequency

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Geographic variations in the incidence of congenital hypothyroidism in China: a retrospective study based on 92 million newborns screened in 2013–2018

引用

Chinese Medical Journal 2021年第18期134卷 2223-2230页

作者： Yong-Na Yao Xue-Lian Yuan Jun Zhu Liang-Cheng Xiang Qi Li Kui Deng Xiao-Hong Li Han-Min Liu National Office for Maternal and Child Health Surveillance of China West China Second University HospitalSichuan UniversityChengduSichuan 610041China National Center for Birth Defects Monitoring West China Second University HospitalSichuan UniversityChengduSichuan 610041China Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University) Ministry of EducationWest China Second University HospitalSichuan UniversityChengduSichuan 610041China Department of Pediatrics West China Second University HospitalSichuan UniversityChengduSichuan 610041China Department of Obsterics Sichuan Birth Defects Clinical Research CenterWest China Second University HospitalSichuan UniversityChengduSichuan 610041China

Background:Although congenital hypothyroidism(CH)has been widely studied in Western countries,CH incidence at different administrative levels in China during the past decade remains *** study aimed to update the incidence and revealed the spatial pattern of CH incidence in the mainland of China,which could be helpful in the planning and implementation of preventative ***:The data used in our study were derived from 245 newborns screening centers that cover 30 provinces of the Chinese newborn screening Information *** auto-correlation was analyzed by Global Moran I and Getis-Ord Gi statistics at the provincial *** interpolation methods were applied to estimate a further detailed spatial distribution of CH incidence at city level throughout the mainland of China,and Kulldorff space scanning statistical methods were used to identify the spatial clusters of CH cases at the city ***:A total of 91,921,334 neonates were screened from 2013 to 2018 and 42,861 cases of primary CH were identified,yielding an incidence of 4.66 per 10,000 newborns screened(95%confidence interval[CI]:4.62–4.71).Neonates in central(risk ratio[RR]=0.84,95%CI:0.82–0.85)and western districts(RR=0.71,95%CI:0.69–0.73)had lower probability of CH cases compared with the eastern *** CH incidence indicated a moderate positive global spatial autocorrelation(Global Moran I value=0.394,P<0.05),and the CH cases were significantly clustered in spatial distribution.A most likely city-cluster(log-likelihood ratio[LLR]=588.82,RR=2.36,P<0.01)and 25 secondary city-clusters of high incidence were *** incidence of each province and each city in the mainland of China was estimated by kriging interpolation,revealing the most affected province and city to be Zhejiang Province and Hangzhou city,***:This study offers an insight into the space clustering of CH incidence at provincial and city *** work on environmental factors n

关键词： Congenital hypothyroidism newborn screening Geographic mapping Incidence

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

screening of amino acids in dried blood spots by stable isotope derivatization-liquid chromatography-electrospray ionization mass spectrometry

引用

Chinese Chemical Letters 2020年第9期31卷 2423-2427页

作者： Huaming Xiao Ping Liu Shujian Zheng Xian Wang Jun Ding Yuqi Feng Key Laboratory of Analytical Chemistry for Biology and Medicine(Ministry of Education) Department of ChemistryWuhan UniversityWuhan 430072China Key Laboratory of Analytical Chemistry of State Ethnic Affairs Commission College of Chemistry and Materials ScienceSouth-Central University for NationalitiesWuhan 430074China Pharmaceutical College Guangxi Medical UniversityNanning 530021China

Direct infusion mass spectrometry(DIMS) is a powerful technique in clinical diagnosis for screening neonatal amino acid metabolic disorders from dried blood spots(DBS).However,DIMS sometimes generated false-positive results for analysis of amino *** this work,we utilized a stable isotope derivatization method,combining with liquid chromatography tandem mass spectrometry(SID-LC-MS),to improve the specificity for screening amino acids in DBS specimens.A pair of isotope reagents,p-(dimethylamino)phenyl isothiocyanate(DMAP-NCS) and 4-isothiocyanato-N,N-bis(methyl-[2H2])aniline([2H4]DMAP-NCS),was synthesized and used to label amino acids in DBS *** [2H4]DMAP-NCS labelled amino acid standards were used as internal standards to compensate the matrix *** method was validated by measuring linearity,recovery and *** results showed that the developed SID-LC-MS method can be used for sensitive and selective determination of 12 diagnostically important amino acids in DBS specimens.

关键词： Amino acids Dried blood spots Stable isotope derivatization LC-MS newborn screening

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：