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| 1 | Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome显示文摘Background Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the NSD1 gene has been implicated as the major cause of Sotos syndrome, with a predominance of microdeletions reported in Japanese patients. This study was conducted to investigate into the spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. Methods Thirty-six Chinese patients with Sotos syndrome and two patients with Weaver syndrome were subject to molecular testing. Results NSD1 gene mutations were detected in 26 (72%) Sotos patients. Microdeletion was found in only 3 patients, while the other 23 had point mutations (6 frameshift, 8 nonsense, 2 spice site, and 7 missense). Of these, 19 mutations were never reported. NSD1 gene mutations were not found in the two patients with Weaver syndrome. Conclusions Most cases of Sotos syndrome are caused by NSD1 gene defects, but the spectrum of mutations is different from that of Japanese patients. Genotype-phenotype correlation showed that patients with microdeletions might be more prone to congenital heart disease but less likely to have somatic overgrowth. The two patients with Weaver syndrome were not found to have NSD1 gene mutations, but the number was too small for any conclusion to be drawn. | Tony M.F. Tong Edgar W.L. Hau Ivan F.M. Lo Daniel H.C. Chan Stephen T.S. Lam | 2005 | Chinese Medical Journal2005，，18： | 10 |
| 2 | Cell cycle-related kinase reprograms the liver immune microenvironment to promote cancer metastasis显示文摘The liver is an immunologically tolerant organ and a common metastatic site of multiple cancer types.Although a role for cancer cell invasion programs has been well characterized,whether and how liver-intrinsic factors drive metastatic spread is incompletely understood.Here,we show that aberrantly activated hepatocyte-intrinsic cell cycle-related kinase(CCRK)signaling in chronic liver diseases is critical for cancer metastasis by reprogramming an immunosuppressive microenvironment.Using an inducible liverspecific transgenic model,we found that CCRK overexpression dramatically increased both B16F10 melanoma and MC38 colorectal cancer(CRC)metastasis to the liver,which was highly infiltrated by polymorphonuclear-myeloid-derived suppressor cells(PMNMDSCs)and lacking natural killer T(NKT)cells.Depletion of PMN-MDSCs in CCRK transgenic mice restored NKT cell levels and their interferon gamma production and reduced liver metastasis to 2.7% and 0.7%(metastatic tumor weights)in the melanoma and CRC models,respectively.Mechanistically,CCRK activated nuclear factor-kappa B(NF-κB)signaling to increase the PMN-MDSC trafficking chemokine C-X-C motif ligand 1(CXCL1),which was positively correlated with liver-infiltrating PMN-MDSC levels in CCRK transgenic mice.Accordingly,CRC liver metastasis patients exhibited hyperaaivation of hepatic CCRK/NF-κB/CXCL1 signaling,which was associated with accumulation of PMN-MDSCs and paucity of NKT cells compared to healthy liver transplantation donors.In summary,this study demonstrates that immunosuppressive reprogramming by hepatic CCRK signaling undermines antimetastatic immunosurveillance.Our findings offer new mechanistic insights and therapeutic targets for liver metastasis intervention. | Xuezhen Zeng Jingying Zhou Zhewen Xiong Hanyong Sun Weiqin Yang Myth T.S.Mok Jing Wang Jingqing Li Man Liu Wenshu Tang Yu Feng Hector Kwong-Sang W ang Shun-Wa Tsang King-Lau Chow Philip Chun Yeung John Wong Paul Bo-San Lai Anthony Wing-Hung Chan Ka Fai To Stephen Lam Chan Qiang Xia Jing Xue Xiao Chen Jun Yu Sui Peng Joseph Jao-Yiu Sung Ming Kuang Alfred Sze-Lok Cheng | 2021 | Cellular & Molecular Immunology2021，18，4： | 5 |
| 3 | Prader-Willi Syndrome:16-Year Experience in Hong Kong显示文摘Prader-Willi syndrome(PWS) is an important,wellrecognized syndromic form of neurodevelopmental disorder. The incidence is about 1 in 15,000-25,000 live births,and it affects both males and females(Vogels et al.,2004).The underlying genetic defects occur at an imprinted region on chromosome 15q11-13.Within this region,some genes only express on the maternally inherited chromosome 15,like UBE3A and ATP10C;while other genes only express on the paternally inherited chromosome 15,like MKRN3,MAGEL2, NDN,C15orf2,SNURF-SNRPN,and a number of | Ivan F.M. Lo Ho Ming Luk luksite@gmail.com Tony M.F. Tong Kent K.S. Lai Daniel H.C. Chan Albert C.F. Lam David K.H. Chan Edgar W.L. Hau Connie O.Y. Fung Stephen T.S. Lam | 2012 | Journal of Genetics and Genomics2012，39，4： | 1 |
| 4 | An everlasting role of genetics and genomics in public health: a meeting report of ACGA-HKSMG International Conference on Genetic and Genomic Medicine 2008显示文摘The Association of Chinese Geneticists in America (ACGA) and the Hong Kong Society of Medical Genetics (HKSMG) held their first joint Conference on Genetic and Genomic Medicine in Hong Kong | Wai-Yee Chan Stephen T.S. Lam Bai-Lin Wu | 2009 | Journal of Genetics and Genomics2009，36，4： | 1 |
| 5 | REVIEW OF EXPERIENCE WITH THE NEWER GENERATION IMPLANTABLE CARDIOVERTER-DEFIBRLLATOR 1998显示文摘Introduction Thltreport review*ourrecentexperienceofImplentatlon of me newer generation Implentsble cerdloverter-deflbrlllator (ICD) in two (ooal cardiology oantnis.Pram January 1998, 11 patients (0 mete, maan aga 80.8 yeira) received iCOe. 6 had dilated cardtomyopathy, 4 feohamic heart disease and 2 hypertrophlc cardlomyopathy. The presentations war* palpitations with documented ventricular tachycardia or ventricular flfriflatfon (VT/VF) (n fl). non-sustained VT (N 3) and history of unexplained recurrent syncope (n*1). All patlenta had etoctrophyvloloQtcal atudles (ventrlculer tachycardia tndudble In 8. ventricular flutter In 2. One patient who presented with non- utta(ned vT and recurrent synoopa and Indudble ventricular flutter wa treated directly with ICD Implant without prior madteatlonr Tha r malnln0 10 oetei had felled medloal treatment Tha prooadure w § carriad out In the cardiac catheterizatlen laboratory under con*cloir tadatlon and local anaestheele. All patlentt tolerated the prooadura wall. &ubmu cuiar Impfantatlon was performed In a and aubcuteneout In 3. Slnplo lead ICD wltti algorithm for supraventrioulerteohycardle discrimination were used In 10 patients end duet chamber ICO was Implanted in 1. The precedura was uncomplicated In all petlents. All patients had a deflbrillatlon threshold testing (DFT) of more then 10J safety margin. All patlenta ware re-examined one day liter the procedure on their recapitulation of the procedure and assessment with coring system over prosanoo of mnolB, recall of the procedure and the severity of pain during dft testing. Upon a mean follow-up of 1 to 8 months, there was appropriate shocks In 4, recognition of atrial arrhythmia In 1 {with the dual chamber ICD) wtth no therapy given. There were 2 Inappropriate shocks but upon reprognsmmlng or the SVT dliorlm’naBon algorithm, thera was no recurrence,Conclusion : Newer generation pectoral (CDs with its smalter alee end SVT discrimination algorithm have significant adventage over the older generations ICD In that they could be Implanted under local anaesthesia with less patient discomfort and have a low Incidence of Inappropriate ahooke. | Hon-Wah Chan Wal-Kwong Chan Stephen Lee Llnda Lam Ching-Wah Lam Chiu-Sun Yue Taan-Fal Chan Man-Hong Jim | 1998 | 中国介入心脏病学杂志1998，6，4： | 0 |
| 6 | Novel biomarkers GEP/ABCB5 regulate response to adjuvant transarterial chemoembolization after curative hepatectomy for hepatocellular carcinoma显示文摘Background: Transarterial chemoembolization(TACE) is the most commonly used adjuvant therapy for hepatocellular carcinoma(HCC) after curative resection. Responses to TACE are variable due to tumor and patient heterogeneity. We had previously demonstrated that expression of Granulin-epithelin precursor(GEP) and ATP-dependent binding cassette(ABC)B5 in liver cancer stem cells was associated with chemoresistance. The present study aimed to evaluate the association between GEP/ABCB5 expression and response to adjuvant TACE after curative resection for HCC. Methods: Patients received adjuvant TACE after curative resection for HCC and patients received curative resection alone were identified from a prospectively collected database. Clinical samples were retrieved for biomarker analysis. Patients were categorized into 3 risk groups according to their GEP/ABCB5 status for survival analysis: low(GEP-/ABCB5-), intermediate(either GEP +/ABCB5-or GEP-/ABCB5 +) and high(GEP +/ABCB5 +). Early recurrence(recurrence within 2 years after resection) and disease-free survival were analyzed. Results: Clinical samples from 44 patients who had followed-up for more than 2 years were retrieved for further biomarker analysis. Among them, 18 received adjuvant TACE and 26 received surgery alone. Patients with adjuvant TACE in the intermediate risk group was associated with significantly better overall survival and 2-year disease-free survival than those who had surgery alone( P = 0.036 and P = 0.011, respectively). Adjuvant TACE did not offer any significant differences in the early recurrence rate, 2-year disease-free survival and overall survival for patients in low and high risk groups. Conclusions: Adjuvant TACE can only provide survival benefits for patients in the intermediate risk group(either GEP +/ABCB5-or GEP-/ABCB5 +). A larger clinical study is warranted to confirm its role in patient selection for adjuvant TACE. | Charing Ching-Ning Chong Siu Tim Cheung Yue-Sun Cheung Anthony Wing-Hung Chan Stephen Lam Chan Simon Chun-Ho Yu Paul Bo-San Lai | 2018 | Hepatobiliary & Pancreatic Diseases International2018，17，6： | 0 |
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