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Molecular basis of von Hippel-Lindau syndrome in Chinese patients

Chinese Medical Journal 2011年第2期124卷 237-241页

作者： SIU Wai-kwan MA Ronald ching-wan lam ching-wan MAK Chloe Miu YUEN Yuet-ping LO Fai-man Ivan CHAN Kin-wan lam Siu-fung LING Siu-cheung TONG Sui-fan SO Wing-yee CHOW Chun-chung TANG Mary Hoi-yin TAM wing-hung CHAN Albert Yan-wo Department of Pathology Princess Margaret Hospital Hong Kong China Department of Medicine & Therapeutics The Chinese University of Hong Kong Prince of Wales Hospital Hong Kong China Department of Pathology Li Ka Shing Faculty of Medicine The University of Hong Kong Queen Mary Hospital Hong Kong China Clinical Genetic Service Department of Health Hong Kong China Department of Medicine and Geriatrics Princess Margaret Hospital Hong Kong China Department of Paediatrics and Adolescent Medicine Princess Margaret Hospital Hong Kong China Department of Obstetrics & Gynaecology Tsan Yuk Hospital Hong Kong China Department of Obstetrics & Gynaecology The Chinese University of Hong Kong Prince of Wales Hospital Hong Kong China

Background Von Hippel-Lindau （VHL） syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various *** genetic basis of VHL in Southern Chinese is largely *** this study,we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese *** Nine probands with clinical features of VHL,two symptomatic and eight asymptomatic family members were included in this *** diagnosis was performed twice for one *** probands had only isolated bilateral *** VHL gene was screened for mutations by polymerase chain reaction,direct sequencing and multiplex ligation-dependent probe amplification （MLPA）.Results The nine probands and the two symptomatic family members carried heterozygous germline *** different VHL mutations were identified in the nine *** splicing mutation,NM_000551.2：c.463＋1G〉T,was *** other seven VHL mutations,c.233A〉G [***78Ser],c.239G〉T [***80lle],c.319C〉G [***107Gly],c.481C〉T [***161X],c.482G〉A [***161GIn],c.499C〉T [***167Trp] and an exon 2 deletion,had been previously *** asymptomatic family members were positive for the mutation and the other five tested *** prenatal diagnosis,the fetuses were positive for the *** Genetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary *** detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their ***-based diagnosis can have an important impact on clinical management for VHL families.

关键词： von Hippel-Lindau syndrome VHL gene Chinese VHL mutations

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Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene

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Chinese Medical Journal 2005年第10期118卷 873-876页

作者： YEUNG Wai Lan lam ching wan CHENG Wai Tsoi SIN Ngai Chuen WONG Wing Kin WONG Chun Nei TSE Ka Ming FOK Tai Fai Departments of Paediatrics Prince of Wales HospitalThe Chinese University of Hong KongHong KongChina Chemical Patholog Prince of Wales HospitalThe Chinese University of Hong KongHong KongChina Department of Paediatrics and Adolescent Medicine Queen Mary HospitalUniversity of Hong Kong Nuclear Medicine&PET Division Scanning DepartmentSt.Teresa’s HospitalHong KongChina

Primary torsion dystonia(PTD)is a clinically and genetically heterogeneous movement *** least thirteen different types of dystonia can be distinguished on a genetic basis.~1 The DYT1 gene was first mapped by Ozelius et al in 1989.~2(Kramer et)al^3 linked the same locus to PTD in 12 Ashkenazi Jewish families in *** patients with early-onset generalized PTD were caused by the same three base pair(GAG)deletion in the DYT1 gene on chromosome 9q34.^(1,4,5)The product of the gene is a protein called torsinA.~5(Although the)function of this protein is as yet uncertain,it is widely distributed throughout the brain with high levels in the substantia nigra compacta dopamine neurones.

关键词： DYT1 gene dystonia positron emission tomography

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Porously Reduced 2-Dimensional Bi_(2)O_(2)CO_(3) Petals for Strain-Mediated Electrochemical CO_(2) Reduction to HCOOH

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Energy & Environmental Materials 2024年第1期7卷 215-221页

作者： Won Seok Cho Dae Myung Hong wan Jae Dong Tae Hyung Lee Chul Jong Yoo Donghwa Lee Ho Won Jang Jong-lam Lee Department of Materials Science and Engineering Pohang University of Science and Technology(POSTECH)Pohang Gyungbuk 37673Korea Department of Materials Science and Engineering Research Institute of Advanced Materials Seoul National UniversitySeoul 08826Korea

Here we introduce bismuth-based catalysts for the efficient electrochemical reduction of CO_(2)to formic acid(HCOOH),which are composed of petal-shaped Bi_(2)O_(2)CO_(3)(BOC)that spontaneously formed from Bi thin film in aqueous carbonate solution at room *** the electrochemical reduction process,the BOC petals transform to reduced BOC(R-BOC)consisting of individual BOC and Bi *** mismatch between both domains induces biaxial strain at the *** functional theory calculations suggest that the tensile strain on the Bi domain stabilizes the*OCHO intermediate,reducing the thermodynamic barrier toward CO_(2)conversion to *** with the thermodynamic benefit and the unique nanoporous petal-shaped morphology,R-BOC petals have a superior Faradaic efficiency of 95.9%at-0.8 V_(RHE)for the electrochemical conversion of CO_(2)to *** work demonstrates that the spontaneously formed binary phases with desirable lattice strain can increase the activity of bismuth catalysts to the CO_(2)reduction reaction;such a strategy can be applicable in design of various electrocatalysts.

关键词： bismuth carbon dioxide reduction formic acid heterointerfaces strain

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Event-triggered sliding mode control of linear repetitive processes and its application in metal rolling process

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Science China(Information Sciences) 2024年第3期67卷 167-181页

作者： Xinyu LV Yugang NIU James lam Key Laboratory of Smart Manufacturing in Energy Chemical Process (East China University of Science and Technology) Ministry of Education Department of Mechanical Engineering The University of Hong Kong

This paper investigates the design problem of a sliding mode controller for linear repetitive processes(LRPs) with a finite pass length on each pass. Under limited communication resources, an eventtriggered mechanism is implemented from the sensors to the controller, whose triggered sequence is consistent with the evolution direction of LRPs. To periodically orchestrate communication between the controller and actuator, a round-robin scheduling mechanism is established based on the pass length. A sliding function involving the state and pass profile is constructed, and the sliding mode controller is designed using triggered states and pass profile signals. Feasible controller gains are attained to ensure the stability of the resultant closed-loop system. Finally, the proposed strategy is implemented for a multi-roll metal rolling process.

关键词： event-triggered mechanism linear repetitive processes metal rolling process round-robin scheduling sliding mode control

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Genomics-driven derivatization of the bioactive fungal sesterterpenoid variecolin:Creation of an unnatural analogue with improved anticancer properties

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Acta Pharmaceutica Sinica B 2024年第1期14卷 421-432页

作者： Dexiu Yan Jemma Arakelyan Teng wan Ritvik Raina Tsz Ki Chan Dohyun Ahn Vladimir Kushnarev Tsz Kiu Cheung Ho ching Chan Inseo Choi Pui Yi Ho Feijun Hu Yujeong Kim Hill lam Lau Ying Lo Law Chi Seng Leung Chun Yin Tong Kai Kap Wong Wing lam Yim Nikolay S.Karnaukhov Richard Y.C.Kong Maria V.Babak Yudai Matsuda Department of Chemistry City University of Hong KongHong Kong SARChina iGEM Team“VarieCure” City University of Hong KongHong Kong SARChina Department of Biomedical Engineering City University of Hong KongHong Kong SARChina Moscow Clinical Research Center Named After A.S.Loginov Moscow 111123Russian Federation

A biosynthetic gene cluster for the bioactive fungal sesterterpenoids variecolin(1)and variecolactone(2)was identified in Aspergillus aculeatus ATCC *** production of 1 and 2 was achieved in Aspergillus oryzae by expressing the sesterterpene synthase VrcA and the cytochrome P450 ***,the replacement of VrcB with homologous P450s from other fungal terpenoid pathways yielded three new variecolin analogues(5-7).Analysis of the compounds’anticancer activity in vitro and in vivo revealed that although 5 and 1 had comparable activities,5 was associated with significantly reduced toxic side effects in cancer-bearing mice,indicating its potentially broader therapeutic *** study describes the first tests of variecolin and its analogues in animals and demonstrates the utility of synthetic biology for creating molecules with improved biological activities.

关键词： Animal studies Anticancer properties Biosynthesis Natural products Sesterterpenoids Synthetic biology Terpene synthases Variecolin

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Comparing 11 early warning scores and three shock indices in early sepsis prediction in the emergency department

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World Journal of Emergency Medicine 2024年第4期15卷 273-282页

作者： Rex Pui Kin lam Zonglin Dai Eric Ho Yin Lau Carrie Yuen Ting Ip Ho ching Chan Lingyun Zhao Tat ChiTsang Matthew Sik Hon Tsui Timothy Hudson Rainer Department of Emergency Medicine School of Clinical MedicineLi Ka Shing Faculty of Medicinethe University of Hong KongHong KongChina School of Public Health Li Ka Shing Faculty of Medicinethe University of Hong KongHong KongChina Accident and Emergency Department Queen Mary HospitalHong KongChina

BACKGROUND:This study aimed to evaluate the discriminatory performance of 11 vital sign-based early warning scores(EWSs)and three shock indices in early sepsis prediction in the emergency department(ED).METHODS:We performed a retrospective study on consecutive adult patients with an infection over 3 months in a public ED in Hong *** primary outcome was sepsis(Sepsis-3 definition)within 48 h of ED *** c-statistics and the DeLong test,we compared 11 EWSs,including the National Early Warning Score 2(NEWS2),Modified Early Warning Score,and Worthing Physiological Scoring System(WPS),etc.,and three shock indices(the shock index[SI],modified shock index[MSI],and diastolic shock index[DSI]),with Systemic Inflammatory Response Syndrome(SIRS)and quick Sequential Organ Failure Assessment(qSOFA)in predicting the primary outcome,intensive care unit admission,and mortality at different time ***:We analyzed 601 patients,of whom 166(27.6%)developed ***2 had the highest point estimate(area under the receiver operating characteristic curve[AUROC]0.75,95%CI 0.70-0.79)and was significantly better than SIRS,qSOFA,other EWSs and shock indices,except WPS,at predicting the primary ***,the pooled sensitivity and specificity of NEWS2≥5 for the prediction of sepsis were 0.45(95%CI 0.37-0.52)and 0.88(95%CI 0.85-0.91),*** discriminatory performance of all EWSs and shock indices declined when used to predict mortality at a more remote time ***:NEWS2 compared favorably with other EWSs and shock indices in early sepsis prediction but its low sensitivity at the usual cut-off point requires further modification for sepsis screening.

关键词： Sepsis Emergency department Clinical prediction rule Early warning score Shock index

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Emerging roles and therapeutic potentials of sphingolipids in pathophysiology:emphasis on fatty acyl heterogeneity

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Journal of Genetics and Genomics 2024年第3期51卷 268-278页

作者： Jinming Mu Sin Man lam Guanghou Shui State Key Laboratory of Molecular Developmental Biology Institute of Genetics and Developmental BiologyChinese Academy of SciencesBeijing 100101China University of Chinese Academy of Sciences Beijing 100101China Lipidall Technologies Company Limited ChangzhouJiangsu 213000China

Sphingolipids not only exert structural roles in cellular membranes,but also act as signaling molecules in various physiological and pathological processes.A myriad of studies have shown that abnormal levels of sphingolipids and their metabolic enzymes are associated with a variety of human ***,blood sphingolipids can also be used as biomarkers for disease *** review summarizes the biosynthesis,metabolism,and pathological roles of sphingolipids,with emphasis on the biosynthesis of ceramide,the precursor for the biosynthesis of complex sphingolipids with different fatty acyl *** possibility of using sphingolipids for disease prediction,diagnosis,and treatment is also *** endogenous ceramides and complex sphingolipids along with their specific fatty acyl chain to promote future drug development will also be discussed.

关键词： Sphingolipids Ceramide Therapeutic targets Microdomain Biomarker

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Analysis of the inflection points of height-diameter models

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Forest Ecosystems 2024年第4期11卷 414-422页

作者： Tzeng Yih lam Mark J.Ducey Department of Forest Resources Management Faculty of ForestryThe University of British Columbia2045-2424 Main MallVancouverBCV6T 1Z4 Canada Department of Natural Resources and the Environment University of New Hampshire114 James HallDurhamNH 03824USA

The inflection point is an important feature of sigmoidal height-diameter(H-D)*** is often cited as one of the properties favoring sigmoidal model ***,there are very few studies analyzing the inflection points of H-D *** goals of this study were to theoretically and empirically examine the behaviors of inflection points of six common H-D models with a regional *** six models were the Wykoff(WYK),Schumacher(SCH),Curtis(CUR),HossfeldⅣ(HOS),von Bertalanffy-Richards(VBR),and Gompertz(GPZ)*** models were first fitted in their base forms with tree species as random effects and were then expanded to include functional traits and spatial *** distributions of the estimated inflection points were similar between the two-parameter models WYK,SCH,and CUR,but were different between the threeparameter models HOS,VBR,and *** produced some of the largest inflection *** and VBR produced concave H-D curves without inflection points for 12.7%and 39.7%of the tree *** species or decreasing shade tolerance resulted in larger inflection *** trends in the estimated inflection points of HOS and VBR were entirely opposite across the ***,HOS could produce concave H-D curves for portions of the *** on the studied behaviors,the choice between two-parameter models may not *** recommend comparing seve ral three-parameter model forms for consistency in estimated inflection points before deciding on *** sigmoidal models to have inflection points does not necessarily mean that they will produce fitted curves with *** study highlights the need to integrate analysis of inflection points into modeling H-D relationships.

关键词： Concavity Forest inventory and analysis Generalized height-diameter models Growth functions Height-diameter functions Mixed-effects modeling Points of inflection Species-specific models

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Epitranscriptomic Regulation of NMDA Receptors Rears its Ugly Head in Chemotherapy-Induced Neuropathic Pain

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Neuroscience Bulletin 2024年第8期40卷 1209-1211页

作者： Wing lam Yu Gerald W.Zamponi Department of Clinical Neurosciences Hotchkiss Brain InstituteAlberta Children's Hospital Research InstituteUniversity of CalgaryCalgaryAB T2N 4N1Canada

number of different cancer chemotherapy agents such as cisplatin,oxaliplatin,and paclitaxel can lead to nerve damage,thereby giving rise to neuropathic pain states that present with mechanical and cold allodynia[1].Although these pain conditions often resolve after completion of the chemotherapy,a significant portion of patients exhibit longlasting pain that can persist longer than 12 months with a negative impact on the quality of life of affected individuals[1].

关键词： chemotherapy pain damage

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Population Dynamics in an Advective Environment

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Communications on Applied Mathematics and Computation 2024年第1期6卷 399-430页

作者： King-Yeung lam Ray Lee Yuan Lou Department of Mathematics The Ohio State UniversityColumbusOH43210USA School of Mathematical Sciences CMA-Shanghai and MOE-LSCShanghai Jiao Tong UniversityShanghai200240China

We consider a one-dimensional reaction-diffusion equation describing single-and two-species population dynamics in an advective environment,based on the modeling frameworks proposed by Lutscher et *** *** analyze the effect of rate of loss of individuals at both the upstream and downstream *** the single-species case,we prove the existence of the critical domain size and provide explicit formulas in terms of model *** further derive qualitative properties of the critical domain size and show that,in some cases,the critical domain size is either strictly decreasing over all diffusion rates,or monotonically increasing after first decreasing to a *** also consider competition between species differing only in their diffusion *** two species having large diffusion rates,we give a sufficient condition to determine whether the faster or slower diffuser wins the *** also briefly discuss applications of these results to competition in species whose spatial niche is affected by shifting isotherms caused by climate change.

关键词： Reaction-diffusion-advection Critical domain size Competition Climate change

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