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Molecular basis of von Hippel-Lindau syndrome in Chinese patients

Chinese Medical Journal 2011年第2期000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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Non-conventional modeling of extreme significant wave height through random sets

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Acta Oceanologica Sinica 2014年第7期33卷 125-130页

作者： ZHANG Yi lam Jasmine siu Lee Division of Infrastructure Systems and Maritime Studies School of Civil and Environmental EngineeringN1-B1a-25 Nanyang Technological UniversitySingapore Division of Infrastructure Systems and Maritime Studies School of Civil and Environmental EngineeringN1-01b-43 Nanyang Technological UniversitySingapore

The analysis and design of offshore structures necessitates the consideration of wave loads. Realistic modeling of wave loads is particularly important to ensure reliable performance of these structures. Among the available methods for the modeling of the extreme significant wave height on a statistical basis, the peak over threshold method has attracted most attention. This method employs Poisson process to character- ize time-varying properties in the parameters of an extreme value distribution. In this paper, the peak over threshold method is reviewed and extended to account for subjectivity in the modeling. The freedom in selecting the threshold and the time span to separate extremes from the original time series data is incorpo- rated as imprecision in the model. This leads to an extension from random variables to random sets in the probabilistic model for the extreme significant wave height. The extended model is also applied to different periods of the sampled data to evaluate the significance of the climatic conditions on the uncertainties of the parameters.

关键词： offshore engineering extreme value distribution wave height peak over threshold randomset Pareto distribution

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Gestational age-specific neonatal mortality in Hong Kong:a population-based retrospective study

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World Journal of Pediatrics 2023年第2期19卷 158-169页

作者： Xue-Lian Wang Eman Leung Genevieve Po Gee fung Hugh Simon lam Department of Neonatology Guangzhou Women and Children’s Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhouChina Department of Paediatrics Faculty of MedicineThe Chinese University of Hong KongHong Kong SARChina The Jockey Club School of Public Health and Primary Care Faculty of MedicineThe Chinese University of Hong KongHong Kong SARChina Department of Paediatrics 6/F Lui Che Woo Clinical Sciences BuildingPrince of Wales HospitalSha TinNew TerritoriesHong Kong SARChina

Background The neonatal period is the most vulnerable period during childhood,with the risk of death being the highest even in developed countries/*** Kong’s neonatal mortality(1‰)is among the world’s lowest and has remained similar for 15 *** study aimed to explore neonatal deaths in Hong Kong in detail and determine whether neonatal mortality is reducible at such a low *** Live births in public hospitals in Hong Kong during 01 Jan 2006–31 Dec 2017 were *** data were extracted from the electronic medical *** age-specific mortality was calculated,and the trends were analyzed using the Cochran–Armitage trend *** of death were summarized,and risk factors were identified in multivariate logistic regression *** In 490,034 live births,755 cases(1.54‰)died during the neonatal period,and 293(0.6‰)died during the post-neonatal *** neonatal mortality remained similar overall(P=0.17)and among infants born at 24–29 weeks’gestation(P=0.4),while it decreased in those born at 23(P=0.04),30–36(P<0.001)and≥37(P<0.001)weeks’*** born at<27 weeks’gestation accounted for a significantly increased proportion among cases who died(27.6%to 51.9%),with hemorrhagic conditions(24%)being the leading cause of *** anomalies were the leading cause of death in neonates born≥27 weeks’gestation(52%),but its cause-specific mortality decreased(P=0.002,0.6‰to 0.41‰),with most of the decrease attributed to trisomy 13/18 and multiple *** Reduction of neonatal mortality in developed regions may heavily rely on improved quality of perinatal and neonatal care among extremely preterm infants.

关键词： Cause of death Neonatal mortality Population based Risk factor Trend

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Role of the forkhead transcription factor FOXO-FOXM1 axis in cancer and drug resistance

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Frontiers of Medicine 2012年第4期6卷 376-380页

作者： fung Zhao Eric W.-F.lam Department of Surgery and Cancer Imperial College LondonHammersmith Hospital CampusLondon W120NNUK

The forkhead transcription factors FOXO and FOXM1 have pivotal roles in tumorigenesis and in mediating chemotherapy sensitivity and *** research shows that the forkhead transcription factor FOXM1 is a direct transcriptional target repressed by the forkhead protein FOXO3a,a vital downstream effector of the PI3K-AKT-FOXO signaling ***,FOXM1 and FOXO3a also compete for binding to the same gene targets,which have a role in chemotherapeutic drug action and *** understanding of the role and regulation of the FOXO-FOXM1 axis will impact directly on our knowledge of chemotherapeutic drug action and resistance in patients,and provide new insights into the design of novel therapeutic strategy and reliable biomarkers for prediction of drug sensitivity.

关键词： FOXO3a FOXM1 transcription factor cancer drug resistance tumorigenesis

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Liver Transplantation for Hepatitis B Virus-related Hepatocellular Carcinoma in Hong Kong

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Journal of Clinical and Translational Hepatology 2018年第3期6卷 283-288页

作者： Ka Wing Ma Kenneth siu Ho Chok James Yan Yue fung Chung Mau Lo Department of Surgery The University of Hong KongHong KongChina State Key Laboratory for Liver Research The University of Hong KongHong KongChina Department of Medicine The University of Hong KongHong KongChina

Hepatocellular carcinoma(HCC)is the fifth most common cancer and the third most common cause of cancer-related deaths *** resection is frequently limited in Hong Kong by hepatitis B virus-related cirrhosis,and liver transplantation is the treatment of *** transplanta-tion has been shown to produce superior oncological benefits,when compared to hepatectomy for *** developments in the context of patient selection criteria,modification of organ allocation,bridging therapy,salvage liver transplanta-tion and pharmaceutical breakthrough have improved the survival of HCC *** this article,we will share our experience in transplanting hepatitis B virus-related HCC patients in Hong Kong and discuss the recent progress in several areas of liver transplantation.

关键词： Liver transplantation Hepatitis B Hepatocel ular carcinoma Review

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Festschrift in Honor of *** McKay——On occasion of his retirement from Department of Chemical and Biomolecular Engineering,the Hong Kong University of Science and Technology

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Chinese Journal of Chemical Engineering 2012年第3期20卷 I0003-I0004页

作者： Koon fung lam Stephen ALLEN The Hong Kong University of Science and Technology

Professor Gordon McKay has a long,exciting and distinguished professional career as a chemical *** his early days in industry through to his most recent appointment as professor and Acting Head of Department of Chemical and Biomolecular Engineering at the Hong Kong University of Science and Technology(HKUST),he has made a substantial contribution to the profession.

关键词：香港科技大学生物分子工程化学工程工程学院论文集麦退休术部

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Exciton dynamics in luminescent carbon nanodots： Electron-hole exchange interaction

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Nano Research 2016年第2期9卷 549-559页

作者： Bo Peng Xin Lu Shi Chen Cheng Hon Alfred Huan Qihua Xiong Evren Mutlugun Hilmi Volkan Demir siu fung Yu Division of Physics and Applied Physics School of Physical and Mathematical Sciences Nanyang Technological University Singapore 637371 Singapore NOVITAS Nanoelectronics Centre of Excellence School of Electrical and Electronic Engineering Nanyang Technological UniversitySingapore 639798 Singapore LUMINOUS Centre of Excellence for Semiconductor Lighting and Displays School of Electrical and Electronic Engineering NanyangTechnological University Singapore 639798 Singapore Department of Applied Physics the Hong Kong Polytechnic University Hong Hum Hong Kong SAR China

The electron-hole exchange interaction significantly influences the optical properties of excitons and radiative decay. However, exciton dynamics in luminescent carbon dots （Cdots） is still not clear. In this study, we have developed a simple and efficient one-step strategy to synthesize luminescent Cdots using the pyrolysis of oleylamine. The sp^2 clusters of a few aromatic rings are responsible for the observed blue photoluminescence. The size of these clusters can be tuned by controlling the reaction time, and the energy gap between the π-π＊ states of the sp^2 domains decreases as the sp^2 cluster size increases. More importantly, the strong electron-hole exchange interaction results in the splitting of the exciton states of the sp^2 clusters into the singlet-bright and triplet-dark states with an energy difference ΔE, which decreases with increasing sp^2 cluster size owing to the reduction of the confinement energy and the suppression of the electron-hole exchange interaction.

关键词： carbon dots photoluminescence pyrolysis electron-hole exchange interaction energy splitting

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Performance improvement of solution-processed CdS/CdTe solar cells with a thin compact TiO_2 buffer layer

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Science Bulletin 2016年第1期61卷 86-91页

作者： Aashir Waleed Qianpeng Zhang Mohammad Mahdi Tavakoli siu-fung Leung Leilei Gu Jin He Xiaoliang Mo Zhiyong Fan Department of Electronic and Computer Engineering The Hong Kong University of Science and Technology Peking University Shenzhen SOC Key Laboratory PKUHKUST Shenzhen-Hongkong Instituition Department of Materials Science Fudan University

The device performance of CdS/CdTe solar cells largely depends on not only the back ohmic contact, but also the conformality of Cd S window layer coating. In order to reduce the light absorption loss in Cd S, the Cd S thickness is usually less than 100 nm. However, pinholes in Cd S and non-conformal coverage of Cd S on transparent conducting oxide layer will cause shunting thus leading to device performance degradation and failure. In this paper, low-temperature and low-cost fabrication methods, i.e., chemical bath deposition and electrochemical deposition, were used to deposit Cd S and Cd Te, respectively. It was found that the yield of device was around 20 % due to shunting. In order to alleviate this problem, a compact layer of TiO2 was inserted between the fluorine-doped tin oxide and Cd S as a buffer layer. The thickness effect of TiO2 was studied and showed that devices with thin(20 nm thickness) TiO2 performed better than the counterparts with thick layers. It was discovered that device yield improved to 80 % and stability in air substantially improved with TiO2 layer.

关键词： Thin films Titanium dioxide Solarenergy Cadmium compounds

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Mothers’ health-related quality of life: Its relationship with children’s health-related quality of life and behavior in low-income families

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Family Medicine and Community Health 2016年第4期4卷 4-12页

作者： Rosa Sze Man Wong Vivian Yawei Guo Patrick Ip Carlos King Ho Wong Esther Yee Tak Yu Colman siu Cheung fung Cindy Lo Kuen lam Department of Family Medicine and Primary Care The University of Hong KongAp Lei Chau ClinicAp Lei ChauHong KongChina Department ofPaediatrics and Adolescent Medicine TheUniversity of Hong KongQueen Mary HospitalHong KongChina

Objective:To examine the association between mothers’health-related quality of life(HRQOL)and their children’s HRQOL and behavior in low-income ***:Mothers of 278 children aged 6-12 years from low-income families were invited to complete the Child Health Questionnaire Parent Form 50(CHQ-PF50)and the Strength and Dif-ficulties Questionnaire(SDQ)for their children as well as the 12-item Short-Form Health Survey version 2(SF-12v2)and the Patient Health Questionnaire-2(PHQ-2).Multiple linear regressions with mother-child pairs as the unit of analysis were performed to examine the associations between maternal and child variables with adjustment of mother-and child-level ***:Compared with the general population,low-income mothers had a lower mean SF-12v2 mental component summary score and their children also had lower mean CHQ-PF50 physi-cal and psychosocial summary scores and SDQ total difficulties *** of mothers with SF-12v2 scores below the population mean of 50 had significantly worse CHQ-PF50 scores and higher SDQ total difficulties *** mother’s PHQ-2 depression status had no association with the child’s CHQ-PF50 ***:Our findings suggest that more attention should be paid to reducing the negative impact of health problems on mothers’daily roles in childcare in low-income families.

关键词： Health-related quality of life child health child behavior low income

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Nine-year experience of doxorubicin-eluting beads chemoembolization for hepatocellular carcinoma

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Hepatobiliary & Pancreatic Diseases International 2016年第5期15卷 493-498页

作者： Alvin Ho-Kwan Cheung Colin siu-Chi lam Henry Shiu-Cheung Tam Tan-To Cheung Roberta Pang Ronnie Tung-Ping Poon Department of Surgery University of Hong Kong and Queen Mary Hospital

BACKGROUND: Chemoembolization with doxorubucin-eluting beads (DEB) has been used to treat hepatocellular carcinoma (HCC) since 2007. This study compared the efifcacy and sur-vival between transarterial chemoembolization (TACE) with DEB and conventional approach (cTACE) in HCC treatment. METHODS: This retrospective case-control study compared the overall survival and tumor response of HCC patients to cTACE (n=190) and DEB (n=143) by the reassessment of com-puted tomography and serum alpha-fetoprotein (AFP). Mul-tivariate analysis was used to determine the factors affecting tumor response. RESULTS: The median post-treatment to pre-treatment AFP level was 0.8 for a DEB session (n=258) and 1.0 for a cTACE session (n=452), showing a signiifcantly greater decrease in AFP after DEB (P80 months after the ifrst TACE session in the DEB group. CONCLUSION: DEB is a safe alternative to cTACE in HCC pa-tients with better therapeutic efifcacy.

关键词： doxorubicin-eluting beads transarterial chemoembolization hepatocellular carcinoma

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