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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 Use our pre-submission checklist Avoid common mistakes on your manuscript.

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Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia

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World Journal of Pediatrics 2017年第4期13卷 381-386页

作者： Lian-Shu Han Zhuo Huang Feng Han 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:Isolated methylmalonic acidemia is a rare autosomal recessive metabolic disorder mostly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MUT).This study aimed to verify whether missense mutations in MUT in Chinese patients affect the stability and enzymatic activity of ***:Eight Chinese patients were identified with novel *** carrying the wild-type and mutated MUT cDNA were constructed and transfected into HEK293T cells for functional *** expression and activity of MCM were determined by western blot and ultra-performance liquid chromatography,***:All patients had high levels of blood propionylcarnitine and urinary methylmalonyl *** the end of the study,two patients were lost to follow-up,three died,and three survived with mental *** to the wild-type protein,the expression levels of all missense mutations of in vitro MCM protein were decreased (P<0.05) except those for I597R,and the MCM activity of the mutations was reduced in a permissive ***:The missense mutations L140P,A141T,G161V,W309G,I505T,Q514K,I597R and G723D affected the stability and enzymatic activity of MCM,indicating that they had a disease-causing capacity.

关键词： methylmalonic acid methylmalonic acidemia methylmalonyl-CoA mutation missense mutation

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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

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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

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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

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Experimental Study on Wire Melting Control Ability of Twin-Body Plasma Arc

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Chinese Journal of Mechanical Engineering 2024年第2期37卷 184-194页

作者： Ruiying Zhang fan Jiang Long xue School of Mechanical Engineering Beijing Institute of Petrochemical TechnologyBeijing 102617China Beijing Academy of Safety Engineering and Technology Beijing 102617China College of Mechanical and Energy Engineering Beijing University of TechnologyBeijing 100124China

The twin-body plasma arc has the decoupling control ability of heat transfer and mass transfer,which is beneficial to shape and property control in wire arc additive *** this paper,with the wire feeding speed as a characteristic quantity,the wire melting control ability of twin-body plasma arc was studied by adjusting the current separation ratio(under the condition of a constant total current),the wire current/main current and the position of the wire in the arc axial *** results showed that under the premise that the total current remains unchanged(100 A),as the current separation ratio increased,the middle and minimum melting amounts increased approximately synchronously under the effect of anode effect power,the first melting mass range remained constant;the maximum melting amount increased twice as fast as the middle melting amount under the effect of the wire feeding speed,and the second melting mass range was *** the wire current increased,the anode effect power and the plasma arc power were both factors causing the increase in the wire melting amount;however,when the main current increased,the plasma arc power was the only factor causing the increase in the wire melting *** average wire melting increment caused by the anode effect power was approximately 2.7 times that caused by the plasma arc *** minimum melting amount was not affected by the wire-torch distance under any current separation ratio *** the current separation ratio increased and reached a threshold,the middle melting amount remained constant with increasing wire-torch *** the current separation ratio continued to increase and reached the next threshold,the maximum melting amount remained constant with the increasing wire-torch *** effect of the wire-torch distance on the wire melting amount reduced with the increase in the current separation *** this study,the decoupling mechanism and ability of this innovative

关键词： Twin-body plasma arc Melting control ability Melting amount Current separation ratio

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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

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Organic polaritonic light-emitting diodes with high luminance and color purity toward laser displays

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Light(Science & Applications) 2024年第9期13卷 1956-1963页

作者： Jianbo De Ruiyang Zhao fan Yin Chunling gu Teng Long Han Huang xue Cao Cunbin An Bo Liao Hongbing Fu Qing Liao Beijing Key Laboratory for Optical Materials and Photonic Devices Department of ChemistryCapital Normal University100048 BeijingChina Beijing Special Engineering Design and Research Institute 100028 BeijingChina Institute of Process Engineering Chinese Academy of Sciences100190 BeijingChina Institute of Molecule Plus Tianjin University and Collaborative Innovation Center of Chemical Science and Engineering(Tianjin)300072 TianjinChina School of Materials Science and Engineering Hunan University of Science and Technology411201 XiangtanHunanChina

Achieving high-luminescence organic light-emitting devices(OLEDs)with narrowband emission and high color purity is important in various optoelectronic *** displays exhibit outstanding advantages in next-generation display technologies owing to their ultimate visual experience,but this remains a great ***,we develop a novel OLED based organic single *** strongly coupling the organic exciton state to an optical microcavity,we obtain polariton electroluminescent(EL)emission from the polariton OLEDs(OPLEDs)with high luminance,narrow-band emission,high color purity,high polarization as well as excellent optically pumped polariton ***,we evaluate the potential for electrically pumped polariton laser through theoretical analysis and provide possible *** work provides a powerful strategy with a material–device combination that paves the way for electrically driven organic single-crystal-based polariton luminescent devices and possibly lasers.

关键词： pumped laser polarization

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Experimental investigation on the gravity driven discharge of cohesive particles from a silo with two outlets

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Particuology 2024年第6期89卷 11-21页

作者： Li Dai Zhulin Yuan Fengxian fan Conghui gu School of Energy and Power Engineering University of Shanghai for Science and TechnologyShanghai 200093China Key Laboratory of Energy Thermal Conversion and Control of Ministry of Education School of Energy and EnvironmentSoutheast UniversityNanjing 210096China Shanghai Key Laboratory of Multiphase Flow and Heat Transfer in Power Engineering University of Shanghai for Science and TechnologyShanghai 200093China School of Energy and Power Jiangsu University of Science and TechnologyZhenjiang 212100China

An experimental study on the gravity driven discharge of cohesive particles from a silo with two outlets was *** discharge behaviors under the conditions that a single outlet was open and two outlets were open were investigated by varying the moisture content of the particles and the filling height of the particles in the *** results show that the discharge rate of the cohesive particles increases gradually at the beginning,then almost keeps constant,and finally drops *** discharge rate in case of two openings is around 1.1–1.6 times that in case of a single *** filling height leads to lower discharge rate in case of a single opening but results in higher discharge rate in case of two ***,the avalanche dynamics in case of a single opening was examined,and the mixing behavior of the cohesive particles was *** is observed that the discharge flow is promoted by the avalanche phenomenon in the silo,generating a general trend that the normalized mass of discharge increases with the filling height at higher moisture *** case of a single opening,the transition from mass flow to funnel flow favors the particle mixing,resulting in an increasing mixing index as the moisture content *** general,a better performance of mixing can be achieved in case of a single opening compared with in case of two *** study provides vital information for fundamental understanding of the gravity driven discharge of cohesive particles from the silo with multiple outlets.

关键词： Cohesive particles Moisture content Discharge rate Avalanche Mixing

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Testing Linearity in Functional Partially Linear Models

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Acta Mathematicae Applicatae Sinica 2024年第3期40卷 875-886页

作者： fan-rong ZHAO Bao-xue ZHANG School of Mathematical Sciences Shanxi UniversityTaiyuan 030006China School of Statistics Capital University of Economics and BusinessBeijing 100070China

For the functional partially linear models including flexible nonparametric part and functional linear part,the estimators of the nonlinear function and the slope function have been studied in existing *** to test the correlation between response and explanatory variables,however,still seems to be ***,a test procedure for testing the linearity in the functional partially linear models will be proposed in this paper.A test statistic is constructed based on the existing estimators of the nonlinear and the slope ***,we prove that the approximately asymptotic distribution of the proposed statistic is a chi-squared distribution under some regularity ***,some simulation studies and a real data application are presented to demonstrate the performance of the proposed test statistic.

关键词： asymptotic theory functional partially linear model Nadaraya-Watson estimate test statistic

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