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Wilson disease with hepatic presentation in an eight-month-old boy

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World Journal of Gastroenterology 2015年第29期21卷 8981-8984页

作者： kuerbanjiang Abuduxikuer Li-Ting Li Yi-Ling Qiu Neng-Li Wang Jian-She Wang Liver Center Children’s Hospital of Fudan University Department of Pediatrics Jinshan Hospital of Fudan University

Wilson disease is an autosomal recessive disorder of copper metabolism that can cause fatal neurological and hepatic disease if not diagnosed and treated. The youngest child with normal liver function reported so far is an 8-mo-old Japanese boy with low ceruloplasmin levels, and the youngest child with elevated aminotransferase ever reported so far is a 9-mo-old Korean boy with confirmed by genetic testing. Here we report an 8-mo-old Chinese boy presented with elevated liver enzymes, and low serum ceruloplasmin level. Genetic analysis of ATP7 B gene detected two heterozygous disease causing mutations(c.2621C>T/p.A874 V and c.3809A>G/p.N1270S), and parental origins were determined. Persistent elevation of serum aminotransferase in this infant was normalized after zinc therapy. To our best knowledge, this is the youngest patient with elevated liver enzymes ever reported worldwide. We hope that this will raise awareness among pediatricians, leading to earlier diagnosis, timely treatment, and better clinical outcome.

关键词： Wilson disease Infant Hepatic presentation ATP7B Copper Zinc

Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature

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World Journal of Gastroenterology 2018年第36期24卷 4208-4216页

作者： kuerbanjiang Abuduxikuer Jia-Yan Feng Yi Lu Xin-Bao Xie Lian Chen Jian-She Wang Department of Hepatology Children’s Hospital of Fudan University Department of Pathology Children’s Hospital of Fudan University Department of Pediatrics Jinshan Hospital of Fudan University

Interstitial lung and liver disease(ILLD) is caused by biallelic mutations in the methionyl-tRNA synthetase(MARS) gene. To date, no genetic changes other than missense variants were reported in the literature. Here, we report a five-month old female infant with typical ILLD(failure to thrive, developmental delay, jaundice, diffuse interstitial lung disease, hepatomegaly with severe steatosis, anemia, and thrombocytosis) showing novel phenotypes such as kidney stones, acetabular dysplasia, prolonged fever, and extreme leukocytosis. Whole exome sequencing revealed a novel truncating variant(c.2158 C>T/***720 Stop) together with a novel tri-nucleotide insertion(c.893_894 insTCG that caused the insertion of an arginine at amino acid position 299) in the MARS gene.

关键词： Methionyl-tRNA synthetase Infant Kidney stone Hip dysplasia Leukocytosis Interstitial lung and liver disease Methionyl-tRNA synthetase gene

Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis

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World Journal of Gastroenterology 2013年第28期19卷 4545-4551页

作者： Rui Chen Xiao-Hong Wang Hai-Yan Fu Shao-Ren Zhang kuerbanjiang Abudouxikuer Takeyori Saheki Jian-She Wang Center for Pediatric Liver Diseases Children's Hospital of Fudan University Institute for Health Sciences Tokushima Bunri University Tokushima 770-8514 Japan Department of Pediatrics Jinshan Hospital Fudan University

AIM: To investigate the differences in the mutation spectra of the SLC25A13 gene mutations from specific regions of China. METHODS: Genetic analyses of SLC25A13 mutations were performed in 535 patients with neonatal intrahepatic cholestasis from our center over eight years. Unrelated infants with at least one mutant allele were enrolled to calculate the proportion of SLC25A13 mutations in different regions of China. The boundary between northern and southern China was drawn at the historical border of the Yangtze ***: A total of 63 unrelated patients (about 11% of cases with intrahepatic cholestasis) from 16 provinces or municipalities in China had mutations in the SLC25A13 gene, of these 16 (25%) were homozygotes, 28 (44%) were compound heterozygotes and 19 (30%) were heterozygotes. In addition to four well described common mutations (c.851_854del, c.1638_1660dup23, c.615+5G>A and c.1750+72_17514dup17insNM_138459.3:2667 also known as IVS16ins3kb), 13 other mutation types were identified, including three novel mutations: c.985_986insT, c.287T>C and c.1349A>G. According to the geographical division criteria, 60 mutant alleles were identified in patients from the southern areas of China, 43 alleles were identified in patients from the border, and 4 alleles were identified in patients from the northern areas of China. The proportion of four common mutations was higher in south region (56/60, 93%) than that in the border region (34/43, 79%, χ 2 = 4.621, P = 0.032) and the northern region (2/4, 50%, χ 2 = 8.288, P = 0.041). CONCLUSION: The SLC25A13 mutation spectra among the three regions of China were different, providing a basis for the improvement of diagnostic strategies and interpretation of genetic diagnosis.

关键词： Citrin deficiency Mutation spectrum Intrahepatic cholestasis SLC25A13

Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency:Two case reports

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World Journal of Clinical Cases 2022年第21期10卷 7397-7408页

作者： kuerbanjiang Abuduxikuer Lei Wang Lin Zou Cui-Yan Cao Long Yu Hong-Mei Guo Xin-Miao Liang Jian-She Wang Li Chen Department of Hepatology Children's Hospital of Fudan UniversityShanghai 201102China Department of Research and Development SysDiagno BiomedtechNanjing 211800Jiangsu ProvinceChina Department of Medical Microbiology Key Laboratory of Medical Molecular Virology of Ministries of Education and HealthSchool of Basic Medical SciencesFudan UniversityShanghai 200032China Dalian Institute of Chemical Physics Chinese Academy of ScienceDalian 116023Liaoning ProvinceChina Department of Gastroenterology Children's Hospital Affiliated to Nanjing Medical UniversityNanjing 210008Jiangsu ProvinceChina

BACKGROUND Mannosyl-oligosaccharide glucosidase(MOGS)deficiency is an extremely rare type of congenital disorder of glycosylation(CDG),with only 12 reported *** clinical,genetic,and glycomic features are still *** aim is to update the novel clinical and glycosylation features of 2 previously reported patients with *** SUMMARY We collected comprehensive clinical information,and conducted the immunoglobulin G1 glycosylation assay using nano-electrospray ionization source quadruple time-of-flight mass *** dysmorphic features included an enlarged tongue,forwardly rotated earlobes,a birth mark,overlapped toes,and abnormal fat *** imaging findings included pericardial effusion,a deep interarytenoid groove,mild congenital subglottic stenosis,and *** laboratory findings included peripheral leukocytosis with neutrophil predominance,elevated C-reactive protein and creatine kinase,dyslipidemia,coagulopathy,complement 3 and complement 4 deficiencies,decreased proportions of T lymphocytes and natural killer cells,and increased serum interleukin *** studies showed a significant increase of hypermannosylated glycopeptides(Glc3Man7GlcNAc2/N2H10 and Man5GlcNAc2/N2H5)and hypersialylated glycopeptides.A compensatory glycosylation pathway leading to an increase in Man5GlcNAc2/N2H5 was indicated with the glycosylation *** We confirmed abnormal glycomics in 1 patient,expanding the clinical and glycomic spectrum of *** also postulated a compensatory glycosylation pathway,leading to a possible serum biomarker for future diagnosis.

关键词： Mannosyl-oligosaccharide glucosidase MOGS-CDG Congenital disorder of glycosylation type IIb Mannosyl-oligosaccharide glucosidase gene Glycomics of IgG1 Case report

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新世纪以来的维吾尔《十二木卡姆》研究

音乐研究 2011年第1期 24-33页

作者：巴吐尔.巴拉提新疆师范大学音乐学院中国音乐学院

维吾尔《十二木卡姆》经历近半个世纪的挖掘、整理、初步研究之后，进入了一个研究事业更活跃的新时期——21世纪。本世纪近十年以来的研究以20世纪下半叶的研究为基础，取得了令人瞩目的成绩。2001至2010年，各民族学者公开发表论文共5... 详细信息

维吾尔《十二木卡姆》经历近半个世纪的挖掘、整理、初步研究之后，进入了一个研究事业更活跃的新时期——21世纪。本世纪近十年以来的研究以20世纪下半叶的研究为基础，取得了令人瞩目的成绩。2001至2010年，各民族学者公开发表论文共50多篇、出版专著3部，以下按木卡姆研究的不同领域，予以综述。

关键词：《十二木卡姆》维吾尔 2010年 21世纪 20世纪发表论文新时期各民族

Simulation of Regional Karst Aquifer System and Assessment of Groundwater Resources in Manatí-Vega Baja, Puerto Rico

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Journal of Water Resource and Protection 2015年第12期7卷 909-922页

作者： balati Maihemuti Reza Ghasemizadeh Xue Yu Ingrid Padilla Akram N. Alshawabkeh Department of Civil and Environmental Engineering Northeastern University Boston MA USA Department of Civil Engineering and Surveying University of Puerto Rico Mayaguez PR USA

The North Coast karst aquifer system of Puerto Rico, the most productive aquifer of the island, is a vital water source for drinking water and local ecosystems. High freshwater demands alter the coastal groundwater system that impacts both human populations and coastal ecosystems of the island. To predict how this system might respond to rainfall events and high pumping demands, we used the equivalent porous medium (EPM) technique to develop a three-dimensional groundwater flow model to estimate hydrogeological parameters and assess groundwater resources in the Manatí-Vega Baja karst aquifer. The approach is based on the hypothesis that the simplified EPM approach will reproduce groundwater hydrodynamics in this complex karst environment. The steady-state model was calibrated with trial and error and parameter estimation methods using an observed groundwater table of 1995 (r = 0.86, p < 0.0001, n = 39). The large-scale simulation suggested that groundwater flow roughly follows the elevation slope (i.e. south to north). Calibrated hydraulic conductivities range from 0.5 to 86 m/d, whereas the hydro-geologic data strongly suggest higher permeability in the middle karst section of the study area. The transient model adequately estimates the observed groundwater fluctuations in response to rainfall events from 1980 until 2014. The transient results indicate that the conceptual model accuracy is more acceptable with a mean error (ME) of -0.132 m, mean absolute error (MAE) of 0.542 m and root mean square (RMSE) error of 0.365 m. The results of water budget simulation show that the total recharge satisfies the total groundwater withdrawal rate in the past, but continuous closure of more contaminated wells causes groundwater levels to increase in the future. The results indicate that the assumption of applicability of EPM approach is sustained and supported by measured data in the study area. Taking future water demands into account, this model could be applied further to p

关键词： Karst Aquifer Groundwater Modeling Seawater Intrusion MODFLOW Puerto Rico

Pediatric Wilson disease presenting as acute liver failure:Prognostic indices

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World Journal of Clinical Cases 2021年第14期9卷 3273-3286页

作者： Wei-Yuan Fang kuerbanjiang Abuduxikuer Peng Shi Yi-Ling Qiu Jing Zhao Yu-Chuan Li Xue-Yuan Zhang Neng-Li Wang Xin-Bao Xie Yi Lu A S Knisely Jian-She Wang Center for Pediatric Liver Diseases Children’s Hospital of Fudan UniversityShanghai 201102China Medical Statistics Department Children’s Hospital of Fudan UniversityShanghai 201102China Institut für Pathologie Medizinische Universität GrazGraz 8010Austria

BACKGROUND Acute liver failure(ALF)can be a primary presentation of Wilson disease(WD).Mortality rates are high in WD with ALF(WDALF).Predictions of mortality in WDALF vary by model and are sometimes contradictory,perhaps because few patients are studied or WD diagnoses are *** To determine the outcomes among well-documented WDALF patients and assess mortality model performance in this *** We reviewed the medical records of our pediatric WDALF patients(n=41 over 6-years-old,single-center retrospective study)and compared seven prognostic models(King’s College Hospital Criteria,model for end-stage liver disease/pediatric end-stage liver disease scoring systems,Liver Injury Unit[LIU]using prothrombin time[PT]or international normalized ratio[INR],admission LIU using PT or INR,and Devarbhavi model)with one *** Among the 41 Han Chinese patients with ALF,WD was established by demonstrating ATP7B variants in *** 5 others,Kayser-Fleischer rings and Coombs-negative hemolytic anemia permitted *** died during hospitalization and three underwent liver transplantation(LT)within 1 mo of presentation and survived(7.3%each);35(85.4%)survived without LT when given enteral D-penicillamine and zinc-salt therapy with or without urgent *** significantly correlated with mortality included encephalopathy,coagulopathy,and gamma-glutamyl transpeptidase activity,bilirubin,ammonia,and serum sodium *** under the receiver operating curves varied among seven prognostic models from 0.981 to 0.748 with positive predictive values from 0.214 to *** WDALF children can survive and recover without LT when given D-penicillamine and Zn with or without plasmapheresis,even after enlisting for LT.

关键词： Acute liver failure ATP7B D-penicillamine Liver transplant Wilson disease Zinc

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相变材料对储热系统换热速率的影响

东北大学学报（自然科学版） 2023年第9期44卷 1292-1297,1327页

作者：库尔班江·乌丝曼戴晓业史琳新疆大学电气工程学院乌鲁木齐830046 清华大学能源与动力工程系北京100084

相变材料(PCMs)是潜热储热系统的核心媒介,而相变温度、导热系数及储能密度是选择PCMs的最关键三大因素.通过热阻模型相对热阻变化,对PCMs以上三个因素分别对储热系统换热速率的影响进行了分析.结果表明,PCMs的导热系数提高到2倍时对系... 详细信息

相变材料(PCMs)是潜热储热系统的核心媒介,而相变温度、导热系数及储能密度是选择PCMs的最关键三大因素.通过热阻模型相对热阻变化,对PCMs以上三个因素分别对储热系统换热速率的影响进行了分析.结果表明,PCMs的导热系数提高到2倍时对系统的换热效果提升显著,提高到5倍以后继续提高导热系数增强系统换热速率效果几乎已失效;在蓄热过程中PCMs相变温度越低,换热速率越快,在释热过程中恰好相反;提高储能密度对系统的换热速率并没有影响,只是相应倍数地延长了蓄/释热功率的时间.

关键词： PCMs 换热速率导热系数相变温度储能密度

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相变材料的特点及热物性分析

东北大学学报（自然科学版） 2023年第4期44卷 510-516页

作者：库尔班江·乌丝曼戴晓业史琳新疆大学电气工程学院新疆乌鲁木齐830046 清华大学能源与动力工程系北京100084

相变材料(phase change materials,PCMs)是潜热储热技术的核心储热媒介,因此选择合适的PCMs需综合考虑到多种因素,而相变温度、储能密度和导热系数是衡量PCMs适用性的最关键因素.对典型的固-液相变的不同类型PCMs特点进行了归纳和比较,... 详细信息

相变材料(phase change materials,PCMs)是潜热储热技术的核心储热媒介,因此选择合适的PCMs需综合考虑到多种因素,而相变温度、储能密度和导热系数是衡量PCMs适用性的最关键因素.对典型的固-液相变的不同类型PCMs特点进行了归纳和比较,结果证明研究多种高性能兼容的复合材料是PCMs应用的发展方向.通过理论分析得出:在设定工作温差50℃范围内常用PCMs相变潜热≥100 kJ/kg时,单位质量储热密度与PCMs的相变温度不再相关;PCMs的相变温度越高,系统的有效输出温度范围越宽,系统输出越灵活;PCMs的相变潜热越大,系统在有效温度范围变化时释热效率越稳定.因此在50℃工作温差范围内选择相变潜热高、兼顾较高的固液平均比热容和相变温度高的PCMs时系统的输出性能更优越.

关键词：潜热 PCMs 储热密度相变温度效率