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Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency

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World Journal of Pediatrics 2014年第2期10卷 119-125页

作者： Rui-Nan Zhang Yi-fan Li Wen-Juan Qiu Jun Ye Lian-Shu Han Hui-Wen Zhang Na Lin xue-fan gu Department of Pediatric Endocrinology and Genetic Metabolism and Shanghai Institute for Pediatric Research Xinhua HospitalShanghai Jiaotong University School of MedicineShanghai 200092China

Background:Very long chain acyl-CoA dehydrogenase deficiency(VLCADD)is an inherited metabolic disease caused by deleterious mutations in the ACADVL gene that encodes very long chain acyl-CoA dehydrogenase(VLCAD),and which can present as cardiomyopathy in neonates,as hypoketotic hypoglycemia in infancy,and as myopathy in late-onset *** many ACADVL mutations have been described,no prevalent mutations in the ACADVL gene have been associated with ***,we report the clinical course of the disease and explore the genetic mutation spectrum in seven Chinese patients with ***:Seven Chinese patients,from newborn to 17 years old,were included in this *** mass spectrometry was performed to screen for VLCAD defi *** exons and fl anking introns of the ACADVL gene were analyzed using polymerase chain reaction and direct *** analysis tools were used to predict the impact of novel ***:All cases had elevated serum levels of tetradecanoylcarnitine(C14:1)which is the characteristic biomarker for *** phenotype of VLCADD is *** patients were hospitalized for hypoactivity and hypoglycemia shortly after *** patients showed hepatomegaly and hypoglycemia in *** other two adolescent patients showed initial manifestations of exercise intolerance or *** of the patients died at the age of 6-8 *** different mutations in the ACADVL gene in the 7 patients were identified,including seven reported mutations(p.S22X,p.W427X,p.A213T,p.G222R,p.R450H,c.296-297delCA,c.1605+1G>T)and four novel mutations(p.S72F,p.Q100X,p.M437T,p.D466Y).The p.R450H and p.D466Y(14.28%,2/14 alleles)mutations were identifi ed in two alleles ***:The clinical manifestations were heterogeneous and ACADVL gene mutations were heterozygous in the seven VLCADD Chinese patients.R450H may be a relatively common mutation in Asian *** genotype and phenotype had a cert

关键词： follow-up mutation very long chain acyl-CoA dehydrogenase VLCAD deficiency treatment

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy

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World Journal of Pediatrics 2015年第4期11卷 366-373页

作者： Shan-Shan Chu Jun Ye Hui-Wen Zhang Lian-Shu Han Wen-Juan Qiu Xiao-Lan Gao xue-fan gu Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua HospitalShanghai Jiao Tong University School of MedicineShanghaiChina

Background:X-linked adrenoleukodystrophy(X-ALD)is a fatal neurodegenerative disease caused by mutations in the adenosine triphosphate-binding cassette D1(ABCD1)*** study aimed to retrospectively investigate the clinical characteristics of 25 patients with X-ALD including members of large pedigrees,to analyze ABCD1 gene mutations,the effect of gene novel variants on ALD protein(ALDP)structure and function,and to expand gene mutation spectrum of Chinese ***:Twenty-five male patients diagnosed with X-ALD were enrolled in this *** clinical characteristics of the patients were retrospectively summarized by reviewing medical records or telephone ***1 gene mutations were *** pathogenicity of novel missense variants was analyzed using cobalt constraint-based multiple protein alignment tool,polymorphism phenotyping,sorting intolerant from tolerant,Align-Grantham variation and Grantham deviation,and Swiss-Program Database Viewer 4.04 software,***:Childhood cerebral form ALD(CCALD)is the most common phenotype(64%)in the 25 patients with *** progressive deterioration of neurological and cognitive functions is the main clinical *** demyelination of the brain white matter and elevated plasma very long chain fatty acids(VLCFAs)were found in all *** phenotypes were also presented within family members of the ***-two different mutations including 8 novel mutations in the ABCD1 gene were identifi ed in the 25 *** the mutations,63.6%were missense mutations and 34.8%located in exon *** amino acid residues of three novel missense mutations in eight species were highly conserved,and were predicted to be"probably"damaging to ALDP *** other five novel mutations were splice,nonsense,deletion or duplication ***:CCALD is the most common phenotype(64%)in our patients with *** novel mutations in the ABCD1 gene identifi ed are disease-causing muta

关键词： ABCD1 protein adrenoleukodystrophy adrenoleukodystrophy protein missense variant mutation

Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia

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World Journal of Pediatrics 2019年第1期15卷 66-71页

作者： Pei-Zhong Bao Jun Ye Lian-Shu Han Wen-Juan Qiu Hui-Wen Zhang Yong-guo Yu Jian-guo Wang xue-fan gu Department of Endocrinology and Genetics Shanghai Institute of PediatricsXinhua HospitalShanghai Jiaotong University School of Medicine1665 Kong Jiang RoadShanghai 200092China

Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of *** We compared the urine neopterin (N),biopterin (B),isoxanthopterin (Iso),B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD,and found the most specific pterin biomarkers by ROC analysis.A positive cut-off value of urine pterins was *** effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated,and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were *** concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was *** (1) Urinary B,B%,Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P < 0.01);(2) Iso%,B%,and B were the most specific markers;(3) The positive cut-off values of B,B%,Iso% for PTPSD were < 0.17 mmoL/moLCr,< 5.0%,and < 9.5%,respectively;(4) urinary B +B% + Iso% scheme significantly reduced the false-positive rate of PTPSD compared to traditional *** Iso% levels in FPTPSD group were higher than the ones in PTPSD group;(5) an accuracy of diagnosis for PTPSD was increased by 9-19% when Iso% was introduced to urinary pterin *** Iso% is helpful to reduce the rate of misdiagnosis of PTPSD in the diagnosis by urinary pterin analysis for hyperphenylalaninemias and improve the accuracy of *** approach is worthy of further development and increased utilization.

关键词： 6-Pyruvoyltetrahydropterin synthase Hyperphenylalaninemia Isoxanthopterin Phenylalanine hydroxylase Pterin

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia:identification of ten novel allelic variants

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World Journal of Pediatrics 2015年第4期11卷 358-365页

作者： Lian-Shu Han Zhuo Huang Feng Han Jun Ye Wen-Juan Qiu Hui-Wen Zhang Yu Wang Zhu-Wen Gong xue-fan gu Department of Pediatric Endocrinology and Genetic Metabolism Xinhua HospitalShanghai Institute for Pediatric ResearchShanghai Jiaotong University School of MedicineShanghaiChina

Background: This study aims to study MUT gene mutation spectrum in Chinese patients with isolated methylmalonic academia (MMA) and their clinical features for the potential genotype-phenotype correlation. Methods: Forty-three patients were diagnosed with isolated MMA by elevated blood propionylcarnitine, propionylcarnitine to acetylcarnitine ratio, and urine methylmalonate without hyperhomocysteinemia. The MUT gene was amplifi ed by polymerase chain reaction and directly sequenced. Those patients with at least one variant allele were included. The novel missense mutations were assessed by bioinformatic analysis and screened against alleles sequenced from 50 control participants. Results: Among the 43 patients, 38 had typical clinical presentations, and the majority (30/38) experienced early-onset MMA. Eight patients died and seven were lost to follow-up. Twenty patients had poor outcomes and eight showed normal development. The 43 identified MUT gene mutations had at least one variant allele, whereas 35 had two mutant alleles. Of the 33 mutations reported before, eight recurrent mutations were identified in 32 patients, and c.729_730insTT (p.D244Lfs*39) was the most common (12/78) in the mutant alleles. Of the 10 novel mutations, six were missense mutations and four were premature termination codon mutations. The six novel missense mutations seemed to be pathogenic. Conclusions: A total of 10 novelMUT mutations were detected in the Chinese population. c.729_730insTT (p.D244Lfs*39) was the most frequent mutation. A genotype-phenotype correlation could not be found, but the genotypic characterization indicated the need of genetic counseling for MMA patients and early prenatal diagnoses for high-risk families.

关键词： methylmalonic acidemia missense mutation MUT gene

QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency

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World Journal of Pediatrics 2014年第3期10卷 219-226页

作者： De-Yun Lu Jun Ye Lian-Shu Han Wen-Juan Qiu Hui-Wen Zhang Jian-De Zhou Pei-Zhong Bao Ya-Fen Zhang xue-fan gu Department of Pediatric Endocrinology and Genetic Metabolism and Shanghai Institute for Pediatric Research Xinhua HospitalShanghai Jiaotong University School of MedicineShanghai 200092China

Background:This study aimed to investigate the mutation spectrum of the QDPR gene,to determine the effect of mutations on dihydropteridine reductase(DHPR)structure/function,to discuss the potential genotype-phenotype correlation,and to evaluate the clinical outcome of Chinese patients after ***:Nine DHPR-deficient patients were enrolled in this study and seven of them underwent neonatal *** gene mutations were analyzed and confi rmed by routine *** potential pathogenicity of missense variants was analyzed using Clustal X,PolyPhen program and Swiss-PDB Viewer 4.04_OSX software,*** clinical outcomes of the patients were evaluated after long-term ***:In 10 mutations of the 9 patients,4 were novel mutations(G20V,V86D,G130S and A175R),4 were reported by us previously,and 2 known mutations were identified.R221X was a hotspot mutation(27.7%)in our *** missense mutations probably had damage to *** patients in this series were treated with a good control of phenylalanine *** height and weight of the patients were normal at the age of 4 months to 7.5 *** patients,who underwent a neonatal screening and were treated early,showed a normal mental *** 2 patients diagnosed late,neurological symptoms were signifi cantly ***:The mutation spectrum of the QDPR gene is different in the Chinese *** mutations are related to severe *** determination of DHPR activity should be performed in patients with ***-defi cient patients who were treated below the age of 2 months may have a near normal mental development.

关键词： dihydropteridine reductase hyperphenylalaninaemia tetrahydrobiopterin

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant

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Chinese Medical Journal 2015年第21期128卷 2979-2980页

作者： Jun Ye Wen-Juan Qiu Lian-Shu Han Hui-Wen Zhang xue-fan gu Department of Pediatric Endocrinology/Genetics Shanghai Institute for Pediatric Research Xin Hua Hospital Shanghai Jiao Tong University School of Medicine Shanghai 200092 China

To the Editor： Tandem mass spectrometry （MS/MS）-based expanded newborn screening was first introduced in Pediatric Endocrinology/ Genetics of Xin Hua Hospital in 2003. The screening is expected to detect genetic disorders leading to a secondary increase in blood phenylalanine （Phe） in newborns. We reported a rare case in a Chinese infant with hyperphenylalaninemia （HPA） caused by phenylalanine hydroxylase （PAH） deficiency and neonatal intrahepatic cholestasis caused by citrin deficiency （NICCD）. This constellation of two different metabolic pathway defects in one patient has not been reported previously.

关键词： Phenylalanine Hydroxylase Deficiency Citrin Deficiency Chinese Infant

Neonatal Screening for Inborn Errors of Metabolism in Shanghai

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临床儿科杂志 2009年第2期27卷 101-105页

作者： xue-fan gu Jun Ye Lian-shu Han Wen-juan Qiu Dept. of Pediatric Endocrinology and Genetic Metabolism Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai Institute for Pediatric Research Shanghai 200092 China

上海地区遗传代谢病的新生儿筛查

关键词：苯丙酮酸尿症联质谱计新生儿临床分析

串联质谱仪在新生儿遗传代谢病筛查中的应用(英文)

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北京大学学报（医学版） 2006年第1期38卷 103-106页

作者： Chun-li YU 顾学范 Department of Human Genetics Emory University School of Medicine Atlanta Georgia USA 上海第二医科大学附属新华医院、上海市儿科医学研究所上海200092

Application of TMS technology in newborn screening has resulted in major expansion of disorder panel for metabolic diseases in recent years. This automated, multiplex testing methodology detects multiple analytes from single analysis of one blood spot, which leads to detection of 30-35 disorders of amino acids, organic acids, and fatty acids metabolism. The early identification of persons affected with inborn errors of metabolism has led to unexpected discoveries related to the natural history of the disorder or options for therapy. This article summarized (1) the basic principles of this technology and methodology. (2) Current status of application of this methodology in the United States, European countries and in China. (3) The positive impacts on the public health and advances in medical genetics. Finally (4) Challenges, issues and possible solutions. The purpose of this article aimed at introducing new technology and exploring the possibilities of implementing into developing countries where medical genetics is not developed and foreseeing the possible problems and obstacles.

关键词：光谱分析质量新生儿筛查代谢缺陷先天性遗传病代谢病串联质谱仪

Variable phenotypes and outcomes associated with the MMACHC c.482G>A mutation:follow-up in a large CblC disease cohort

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World Journal of Pediatrics 2024年第8期20卷 848-858页

作者： Sheng-Nan Wu Hui-Shu E Yue Yu Shi-Ying Ling Li-Li Liang Wen-Juan Qiu Hui-Wen Zhang Rui-xue Shuai Hai-Yan Wei Chi-Ju Yang Peng Xu Xi-gui Chen Hui Zou Ji-Zhen Feng Ting-Ting Niu Hai-Li Hu Kai-Chuang Zhang De-Yun Lu Zhu-Wen Gong Xia Zhan Wen-Jun Ji xue-fan gu Yong-Xing Chen Lian-Shu Han Department of Endocrinology and Metabolism Henan Key Laboratory of Children’s Genetics and Metabolic DiseasesChildren’s Hospital Affiliated to Zhengzhou UniversityHenan Children’s HospitalZhengzhou Children’s HospitalNo.255 Gangdu StreetZhengzhouChina Department of Pediatric Endocrinology and Genetics Fujian Children’s HospitalFuzhouChina The Center for Pediatric Liver Diseases Children’s HospitalFudan UniversityShanghaiChina Department of Pediatric Endocrinology/Genetics Shanghai Institute for Pediatric ResearchXinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityNo.1665 Kongjiang RoadShanghaiChina Department of Pediatrics Second Affiliated Hospital of Naval Medical UniversityShanghaiChina Center of Neonatal Disease Screening Jining Maternal and Child Health Care HospitalJiningChina Center of Neonatal Disease Screening Jinan Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Shijiazhuang Maternal and Child Health Care HospitalShijiazhuangChina Center of Neonatal Disease Screening Shandong Maternal and Child Health Care HospitalJinanChina Center of Neonatal Disease Screening Hefei Maternal and Child Health Care HospitalHefeiChina

Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene(MMACHC)c.482G>A mutation in 195 Chinese cases with CblC *** We carried out a national,retrospective multicenter study of 195 Chinese patients with CblC disease attributable to the MMACHC c.482G>A variant either in a homozygous or compound heterozygous *** control group consisted of 200 patients diagnosed with CblC disease who did not possess the c.482G>A *** features,including disease onset,symptoms,biochemical metabolites,gene mutation,and follow-up outcomes were reviewed and analyzed in *** median follow-up period spanned 3 years and 8 months,with a range of 1 year and 2 months to 12 years and 10 *** Among 195 patients carrying the c.482G>A variant,125(64.1%)cases were diagnosed by newborn screening(NBS),60(30.8%)cases were detected due to disease onset,and 10(5.1%)cases were identified from sibling *** hundred and seventeen(93.6%)individuals who were diagnosed by NBS,and nine patients who came from sibling diagnoses remained asymptomatic in this *** 69 symptomatic patients of the c.482G>A group,more patients presented with later onset,and the top six common clinical symptoms at disease onset were developmental delay(59.4%),lower limb weakness and poor exercise tolerance(50.7%),cognitive decline(37.7%),gait instability and abnormal posture(36.2%),seizures(26.1%),and psychiatric and behavioral disturbances(24.6%).In the 159 symptomatic patients lacking c.482G>A variants,the most frequently observed clinical manifestations at disease onset included developmental delay(81.8%),lethargy and feeding difficulty(62.9%),lower limb weakness and poor exercise tolerance(54.7%),prolonged neonatal jaundice(51.6%),vomiting(47.2%),and seizures(32.7%).Before treatment,the levels of blood propionylcarnitine,propionylcarnitine/acetylcarnitine ratio

关键词： c.482G>A CblC disease MMACHC gene Newborn screening Outcome