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Phenylketonuria in Hong Kong Chinese： a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China

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Chinese Medical Journal 2011年第16期124卷 2556-2558页

作者： Chloe Miu Mak Chun-hung Ko Ching-wan Lam wai-ling Lau wai-kwan siu Sammy Pak-lam Chen Chun-yiu Law Chi-kong Lai Chak-man Yu Albert Yan-wo Chan Kowloon West Cluster Laboratory Genetic Service ChemicalPathology Laboratory Department of Pathology Princess MargaretHospital Hong Kong China Department of Paediatrics and Adolescent Medicine CaritasMedical Centre Hong Kong China Department of Pathology Li Ka Shing Faculty of Medicine TheUniversity of Hong Kong Hong Kong China

Hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15 000 live births. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians. Exact diagnosis is important for the treatment and genetic counseling. In 2000, newborn screening for phenylketonuria is mandatory by law in China throughout the whole country. However, it is not yet included in the newborn screening program of the Hong Kong Special Administrative Region, China. Published data on hyperphenylalaninemia among Hong Kong Chinese are largely lacking. We report a 1-year-old Hong Kong Chinese girl with severe 6-pyruvoyl-tetrahydropterin synthase （PTPS） deficiency. The patient presented with infantile hypotonia and was misdiagnosed as cerebral palsy. She had very mild hyperphenylalaninemia （95 IJmol/L）, significantly high phenylalnine-to-tyrosine ratio （3.1）, and ele~,ated prolactin of 1109 m lU/L. Genetic analysis confirmed a homozygous known disease-causing mutation PTS NM_000317.1： c.259C〉T; NP_000308.1： p.P87S in the proband. In our local experience, while the estimated prevalence of hyperphenylalaninemia due to PTPS deficiency was reported to be 1 in 29 542 live births, not a single case of phenylalanine hydroxylase deficiency has been reported. Furthermore, there is a general lack of awareness of inherited metabolic diseases in the community as well as among the medical professionals. Very often, a low index of clinical suspicion will lead to delay in diagnosis, multiple unnecessary and costly investigations, prolonged morbidity and anxiety to the family affected. We strongly recommend that expanded newborn screening for hyperphenylalaninemia should be implemented for every baby born in the Hong Kong Special Administrative Region, China.

关键词： Hong Kong Chinese hyperphenylalaninemia newborn screening phenylketonuria 6-pyruvoyl-tetrahydropterin synthase deficiency

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Analysis of inborn errors of metabolism： disease spectrum for expanded newborn screening in Hong Kong

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Chinese Medical Journal 2011年第7期124卷 983-989页

作者： Han-Chih Hencher Lee Chloe Miu Mak Ching-Wan Lam Yuet-Ping Yuen, Angel On-Kei Chan Chi-Chung Shek Tak-Shing siu Chi-Kong Lai Chor-kwan Ching wai-kwan siu Sammy Pak-Lam Chen Chun-Yiu Law Morris Hok-Leung Tai Sidney Tam Albert Yan-Wo Chan Chemical Pathology Laboratory Department of Pathology Princess Margaret Hospital Hong Kong SAR China Division of Clinical Biochemistry Queen Mary Hospital Hong Kong SAR China Department of Pathology Li Ka Shing Faculty of Medicine The University of Hong Kong Hong Kong SAR China Chemical Pathology Laboratory Department of Pathology Queen Elizabeth Hospital Hong Kong SAR China

Background Data of classical inborn errors of metabolism （IEM） of amino acids, organic acids and fatty acid oxidation are largely lacking in Hong Kong, where mass spectrometry-based expanded newborn screening for IEM has not been initiated. The current study aimed to evaluate the approximate incidence, spectrum and other characteristics of classical IEM in Hong Kong, which would be important in developing an expanded newborn screening program for the local area.

关键词： biochemical genetics chemical pathology expanded newborn screening Hong Kong," inborn errorsof metabolism tandem mass spectrometry

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Broad-spectrum ginsentides are principal bioactives in unraveling the cure-all effects of ginseng

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Acta Pharmaceutica Sinica B 2024年第2期14卷 653-666页

作者： Shining Loo Antony Kam Bamaprasad Dutta Xiaohong Zhang Nan Feng siu kwan Sze Chuan-Fa Liu Xiaoliang Wang James P.Tam School of Biological Sciences Nanyang Technological UniversitySingapore 637551Singapore Academy of Pharmacy Xi’an Jiaotong-Liverpool UniversitySuzhou 215123China Department of Biological Sciences Xi’an Jiaotong-Liverpool UniversitySuzhou 215123China Institute of Materia Medica Chinese Academy of Medical SciencesBeijing 100050China Department of Health Sciences Brock UniversityNiagara RegionON L2S 3A1Canada

Stress and illness connection is complex and involves multiple physiological *** ginsengs,reputed for their broad-spectrum“cure-all”effect,are widely prescribed to treat stress and related ***,the identity of ginseng’s“cure-all”medicinal compounds that relieve stress remains ***,we identify ginsentides as the principal bioactives that coordinate multiple systems to restore homeostasis in response to *** are disulfide-rich,cell-penetrating and proteolytic-stable *** affinity-enrichment mass spectrometry target identification together with in vitro,ex vivo and in vivo validations,we show that highly purified or synthetic ginsentides promote vasorelaxation by producing nitric oxide through endothelial cells via intracellular PI3K/Akt signaling pathway,alleviate a1-adrenergic receptor overactivity by reversing phenylephrine-induced constriction of aorta,decrease monocyte adhesion to endothelial cells via CD166/ESAM/CD40 and inhibit P2Y12 receptors to reduce platelet *** administered ginsentides were effective in animal models to reduce ADP-induced platelet aggregation,to prevent collagen and adrenalineinduced pulmonary thrombosis as well as anti-stress behavior of tail suspension and forced swimming tests in ***,these results strongly suggest that ginsentides are the principal panacea compounds of ginsengs because of their ability to target multiple extra-and intra-cellular proteins to reverse stress-induced damages.

关键词： Ginseng Cysteine-rich peptides Microproteins Cure-all Stress Homeostasis

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Discrete Choice Analysis of Temporal Factors on Social Network Growth

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Intelligent Information Management 2024年第1期16卷 21-34页

作者： Kwok-wai Cheung Yuk Tai siu School of Communication The Hang Seng University of Hong Kong Hong Kong China

Social networks like Facebook, X (Twitter), and LinkedIn provide an interaction and communication environment for users to generate and share content, allowing for the observation of social behaviours in the digital world. These networks can be viewed as a collection of nodes and edges, where users and their interactions are represented as nodes and the connections between them as edges. Understanding the factors that contribute to the formation of these edges is important for studying network structure and processes. This knowledge can be applied to various areas such as identifying communities, recommending friends, and targeting online advertisements. Several factors, including node popularity and friends-of-friends relationships, influence edge formation and network growth. This research focuses on the temporal activity of nodes and its impact on edge formation. Specifically, the study examines how the minimum age of friends-of-friends edges and the average age of all edges connected to potential target nodes influence the formation of network edges. Discrete choice analysis is used to analyse the combined effect of these temporal factors and other well-known attributes like node degree (i.e., the number of connections a node has) and network distance between nodes. The findings reveal that temporal properties have a similar impact as network proximity in predicting the creation of links. By incorporating temporal features into the models, the accuracy of link prediction can be further improved.

关键词： Discrete Choice Models Temporal Factors Social Network Link Prediction Network Growth

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Governance of decentralized autonomous organizations that produce open source software

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Blockchain(Research and Applications) 2024年第1期5卷 10-30页

作者： Paul van Vulpen Jozef siu Slinger Jansen Department of Information and Computer Science Utrecht University3584 CS Utrechtthe Netherlands Public Sector Solutions Centric2803 PB Goudathe Netherlands

Decentralized autonomous organizations(DAOs)have found use in the governance of open source software(OSS)***,the governance of an OSS producing DAO should match the particularities of OSS production while also overcoming the existing challenges of decentralized *** existing decentralized governance frameworks do not include all the governance activities of OSS ***,this study presents a governance framework for DAOs that produce *** framework is built upon a total of 34 articles on DAO and OSS *** framework was evaluated in three leading DAOs that produce *** evaluation underscores the significance of the framework and proves the potential of the systematic categorization of governance ***,we list emerging governance practices in various governance domains in this developing field.

关键词： Decentralized autonomous organizations Open source software Governance framework Blockchain Decentralized governance Case study research

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Surgical cystogastrostomy: Is it still worthwhile?

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World Journal of Gastroenterology 2024年第17期30卷 2298-2301页

作者： Kin Pan Au Kenneth siu Ho Chok Department of Surgery Queen Mary HospitalThe University of Hong KongHong Kong 999077China Department of Surgery The Chinese University of Hong KongHong Kong 999077China

The article by Ker et al explores the treatment of peripancreatic fluid collection(PFC).The use of percutaneous drainage,endoscopy,and surgery for managing PFC are *** drainage is noted for its low risk profile,while endoscopic cystogastrostomy is more effective due to the wider orifice of the metallic *** cystogastrostomy is a definitive treatment with a reduced need for reintervention,especially for cases with extensive collections and significant *** choice of treatment modality should be tailored to individual patient characteristics and disease factors,considering the expertise available.

关键词： Endoscopic cystgastrostomy Surgical cystgastrostomy Pancreatitis Pancreatic necrosis Peripancreatic collection

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Fault Diagnosis Scheme for Railway Switch Machine Using Multi-Sensor Fusion Tensor Machine

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Computers, Materials & Continua 2024年第6期79卷 4533-4549页

作者： Chen Chen Zhongwei Xu Meng Mei Kai Huang siu Ming Lo School of Electronic and Information Engineering Tongji UniversityShanghai201804China Department of Architecture and Civil Engineering City University of Hong KongHong KongChina School of Computer Engineering Jimei UniversityXiamen361021China

Railway switch machine is essential for maintaining the safety and punctuality of train operations.A data-driven fault diagnosis scheme for railway switch machine using tensor machine and multi-representation monitoring data is developed *** existing methods,this approach takes into account the spatial information of the time series monitoring data,aligning with the domain expertise of on-site manual ***,a multi-sensor fusion tensor machine is designed to improve single signal data’s limitations in insufficient ***,one-dimensional signal data is preprocessed and transformed into two-dimensional ***,the fusion feature tensor is created by utilizing the images of the three-phase current and employing the CANDE-COMP/PARAFAC(CP)decomposition ***,the tensor learning-based model is built using the extracted fusion feature *** developed fault diagnosis scheme is valid with the field three-phase current *** experiment indicates an enhanced performance of the developed fault diagnosis scheme over the current approach,particularly in terms of recall,precision,and F1-score.

关键词： Railway switch machine tensor machine fault diagnosis

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Exploring treatment options in cancer: Tumor treatment strategies

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Signal Transduction and Targeted Therapy 2024年第8期9卷 3337-3380页

作者： Beilei Liu Hongyu Zhou Licheng Tan Kin To Hugo siu Xin-Yuan Guan Department of Clinical Oncology The University of Hong Kong-Shenzhen HospitalShenzhenChina Department of Clinical Oncology The University of Hong KongHong KongChina state Key Laboratory for Liver Research The University of Hong KongHong KongChina Advanced Energy Science and Technology Guangdong Laboratory HuizhouChina MOE Key Laboratory of Tumor Molecular Biology Jinan UniversityGuangzhouChina

Traditional therapeutic approaches such as chemotherapy and radiation therapy have burdened cancer patients with onerous physical and psychological ***,the landscape of tumor treatment has undergone a comprehensive and remarkable *** as fervently pursued modalities are small molecule targeted agents,antibody-drug conjugates(ADCs),cell-based therapies,and gene *** cutting-edge treatment modalities not only afford personalized and precise tumor targeting,but also provide patients with enhanced therapeutic comfort and the potential to impede disease ***,it is acknowledged that these therapeutic strategies still harbour untapped potential for further *** a comprehensive understanding of the merits and limitations of these treatment modalities holds the promise of offering novel perspectives for clinical practice and foundational research *** this review,we discussed the different treatment modalities,including small molecule targeted drugs,peptide drugs,antibody drugs,cell therapy,and gene *** will provide a detailed explanation of each method,addressing their status of development,clinical challenges,and potential *** aim is to assist clinicians and researchers in gaining a deeper understanding of these diverse treatment options,enabling them to carry out effective treatment and advance their research more effciently.

关键词： drugs treatment holds

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An Overview of Chemical Constituents, Medicinal Properties, Clinical Trials, and Patents of Twigs of Morus alba(Ramulus Mori)

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World Journal of Traditional Chinese Medicine 2024年第2期10卷 149-158页

作者： Eric Wei Chiang Chan Hung Tuck Chan siu Kuin Wong Department of Food Science and Nutrition Faculty of Applied SciencesUCSI UniversityCherasKuala LumpurMalaysia Secretariat of International Society for Mangrove Ecosystems Faculty of AgricultureUniversity of the RyukyusOkinawaJapan School of Foundation Studies Xiamen University MalaysiaSepangSelangorMalaysia

The rich chemical constituents and diverse pharmacological properties of Ramulus Mori(RM) or the twig of Morus alba with evidence supported by clinical trials and patents are reviewed. Known as Sangzhi in Chinese, RM is widely used in traditional Chinese medicine to treat gout, arthritis, and rheumatism. Chemical constituents include flavonoids, benzofurans, alkaloids, stilbenes, chalcones, phenolic acids, and coumarins. Bioactivities of RM include antidiabetic, anti-obesity, anti-inflammatory, antityrosinase, neuroprotective, antioxidant, hepatoprotective, cytoprotective, renoprotective, antihyperuricemic, analgesic, antifungal, DNA protective, anticancer, gastroprotective, cardioprotective, anti-hair aging, anti-arthritic, and antiplatelet aggregation properties. The most active compounds from RM are mulberrin, oxyresveratrol, and mulberroside A. All four clinical trials on RM are focused on the treatment of diabetes. The patents entail using RM extracts as cosmetics for skin whitening and as agents for hypoglycemia. Topics for further research on RM are suggested.

关键词： Clinical trials mulberrin mulberroside A oxyresveratrol patents Sangzhi

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Hormone-based pharmacotherapy for metabolic dysfunction-associated fatty liver disease

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Medical Review 2024年第2期4卷 158-168页

作者： Zara siu Wa Chui Yaqian Xue Aimin Xu State Key Laboratory of Pharmaceutical Biotechnology The University of Hong KongHong Kong SARChina Department of Medicine The University of Hong KongHong Kong SARChina School of Biomedical Sciences The University of Hong KongHong Kong SARChina State Key Laboratory of Pharmaceutical Biotechnology The University of Hong Kong999077Hong Kong SARChina Department of Medicine The University of Hong Kong999077Hong Kong SARChina Department of Pharmacology and Pharmacy The University of Hong Kong999077Hong Kong SARChina

Metabolic dysfunction-associated fatty liver disease(MAFLD)has reached epidemic proportions globally in parallel to the rising prevalence of *** its significant burden,there is no approved pharmacotherapy specifically tailored for this *** potential drug candidates for MAFLD have encountered setbacks in clinical trials,due to safety concerns or/and insufficient therapeutic ***,several investigational drugs that mimic the actions of endogenous metabolic hormones,including thyroid hormone receptorβ(THRβ)agonists,fibroblast growth factor 21(FGF21)analogues,and glucagon-like peptide-1 receptor agonists(GLP-1RAs),showed promising therapeutic efficacy and excellent safety *** them,resmetirom,a liver-targeted THRβ-selective agonist,has met the primary outcomes in alleviation of metabolic dysfunction-associated steatohepatitis(MASH),the advanced form of MAFLD,and liver fibrosis in phase-3 clinical *** hormone-based pharmacotherapies not only exhibit varied degrees of therapeutic efficacy in mitigating hepatic steatosis,inflammation and fibrosis,but also improve metabolic ***more,these three hormonal agonists/analogues act in a complementary manner to exert their pharmacological effects,suggesting their combined therapies may yield synergistic therapeutic *** in-depth studies on the intricate interplay among these metabolic hormones are imperative for the development of more efficacious combination therapies,enabling precision management of MAFLD and its associated comorbidities.

关键词： metabolic hormones metabolic dysfunctionassociated steatohepatitis(MASH) liver fibrosis biopharmaceutical development clinical trials

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