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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000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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Current status of associating liver partition with portal vein ligation for staged hepatectomy: Comparison with two-stage hepatectomy and strategies for better outcomes

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world Journal of Gastroenterology 2019年第43期25卷 6373-6385页

作者： Kin Pan Au albert Chi yan chan Department of Surgery Queen Mary HospitalHong KongChina Department of Surgery and State Key Laboratory for Liver Research The University of Hong KongHong KongChina

Since its introduction in 2012,associating liver partition with portal vein ligation for staged hepatectomy(ALPPS)has significantly expanded the pool of candidates for liver *** offers patients with insufficient liver function a chance of a *** is most controversial when its high morbidity and mortality is *** mortality is usually a result of posthepatectomy liver failure and can be minimized with careful patient *** patients have limited reserve for tolerating the demanding *** with colorectal liver metastasis have normal liver and are ideal *** for cholangiocarcinoma is technically challenging and associated with fair *** with hepatocellular carcinoma have chronic liver disease and limited parenchymal ***,in selected patients with limited hepatic fibrosis satisfactory outcomes have been *** the inter-stage period,serum bilirubin and creatinine level and presence of surgical complication predict mortality after stage *** growth rate and hepatobiliary scintigraphy also guide the decision whether to postpone or omit stage II *** outcomes of ALPPS have been improved by a combination of technical *** patients with challenging anatomy,partial ALPPS potentially reduces morbidity,but remnant hypertrophy may compare unfavorably to a complete *** compared to conventional two-stage hepatectomy with portal vein embolization or portal vein ligation,ALPPS offers a higher resection rate for colorectal liver metastasis without increased morbidity or *** ALPPS has obvious theoretical oncological advantages over two-stage hepatectomy,the long-term outcomes are yet to be determined.

关键词： Associating liver partition with portal vein ligation for staged hepatectomy Two-stage hepatectomy Patient selection Surgical outcomes

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Simultaneous portohepatic vein embolization a radiological:a short cut to associating liver partition and portal vein ligation for staged hepatectomy?

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Hepatobiliary Surgery and Nutrition 2021年第3期10卷 373-375页

作者： Ka Wing Ma albert Chi yan chan Department of Surgery Li Ka Shing Faculty of Medicinethe University of Hong KongHong KongChina

Insufficient future liver remnant(FLR)represented one of the most common contraindications for major hepatectomy as post-hepatectomy liver failure(PHLF)was associated with high mortality with no effective *** the description of portal vein embolization(PVE)by Makucchi in 1984(1),FLR volumetric modulation was made *** of PVE before major hepatectomy for patients with insufficient FLR(i.e.,<30%of estimated standard liver volume)had greatly improved resectability.

关键词： hepatectomy mortality liver

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Image content authentication technique based on Laplacian Pyramid

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Frontiers of Electrical and Electronic Engineering in China 2008年第2期3卷 188-193页

作者： yan wo Guoqiang HAN School of Computer Science and Engineering South China University of TechnologyGuangzhou 510640China

This paper proposes a technique of image content authentication based on the Laplacian Pyramid to verify the authenticity of image ***,the image is decomposed into Laplacian Pyramid before the ***,the smooth and detail properties of the original image are analyzed according to the Laplacian Pyramid,and the properties are classified and encoded to get the corresponding characteristic ***,the signature derived from the encrypted characteristic values is embedded in the original image as a *** the reception,the characteristic values of the received image are compared with the watermark drawn out from the *** algorithm automatically identifies whether the content is tampered by means of morphologic *** information of tampered location is p resented at the same *** results show that the proposed authentication algorithm can effectively detect the event and location when the original image content is ***,it can tolerate some distortions produced by compression,filtration and noise degradation.

关键词： digital watermark image authentication Laplacian Pyramid digital signature morphology

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A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

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Chinese Medical Journal 2010年第11期123卷 1466-1469页

作者： CHING Chor Kwan LAU Kwok Kwong YU Kwok Wai chan yan wo albert MAK Miu Chloe Chemical Pathology Laboratory. Department of Pathology Princess Margaret hospital Hong Kong China Department of Medicine and Geriatrics Princess Margaret hospital Hong Kong China

Charcot-Marie-Tooth disease （CMT）, also known as hereditary motor and sensory neuropathies,comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms：

关键词： Charcot-Marie-Tooth type 2A mitofusin 2 gene Hong Kong

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The ‘Unsigned highway’:An alternative route for portal vein anastomosis for non-malignant portal vein thrombosis during pediatric re-transplantation

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Hepatobiliary & Pancreatic Diseases International 2021年第2期20卷 193-195页

作者： albert Chi yan chan Wing Chiu Dai Patrick Ho Yu Chung wong Hoi She Sui Ling Sin Division of Liver Transplantation Department of SurgeryThe University of Hong KongHong KongChina Division of Paediatric Surgery Department of SurgeryThe University of Hong KongHong KongChina

To the Editor:Non-malignant portal vein thrombosis(PVT)remains an important issue in liver transplantation due to the technical challenges in re-establishing the portal flow to the liver *** prevalence of complex PVT(*** grade 4)was reported to be around 2.0%[1].In the early history of liver transplantation,PVT was regarded as a contraindication.

关键词： malignant thrombosis anastomosis

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Abnormal brain activity in adolescents with Internet addiction who attempt suicide: an assessment using functional magnetic resonance imaging

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Neural Regeneration Research 2020年第8期15卷 1554-1559页

作者： yan Huang Lu Xu Li Kuang wo Wang Jun Cao Mu-Ni Xiao GCP Office Chongqing Traditional Chinese Medicine HospitalChongqingChina Chongqing Medical and Pharmaceutical College ChongqingChina Department of Psychiatry the First Affiliated Hospital of Chongqing Medical UniversityChongqingChina Mental Health Center University-Town Hospital of Chongqing Medical UniversityChongqingChina

Internet addiction is associated with an increased risk of suicidal behavior and can lead to brain dysfunction among ***,whether brain dysfunction occurs in adolescents with Internet addiction who attempt suicide remains *** observational cross-sectional study enrolled 41 young Internet addicts,aged from 15 to 20 years,from the Department of Psychiatry,the First Affiliated Hospital of Chongqing Medical University,China from January to May *** participants included 21 individuals who attempted suicide and 20 individuals with Internet addiction without a suicidal attempt *** images in the resting state were obtained by a 3.0 T magnetic resonance imaging *** results showed that activity in the gyrus frontalis inferior of the right pars triangularis and the right pars opercularis was significantly increased in the suicidal attempt group compared with the non-suicidal attempt *** the resting state,the prefrontal lobe of adolescents who had attempted suicide because of Internet addiction exhibited functional abnormalities,which may provide a new basis for studying suicide pathogenesis in Internet *** study was authorized by the Ethics Committee of Chongqing Medical University,China(approval No.2017 Scientific Research Ethics(2017-157))on December 11,2017.

关键词： adolescents amplitude of low-frequency fluctuation brain activity functional magnetic resonance imaging Internet addiction prefrontal lobe resting state suicidal attempt

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Initial experience with stereotactic body radiotherapy for intrahepatic hepatocellular carcinoma recurrence after liver transplantation

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world Journal of Clinical Cases 2020年第13期8卷 2758-2768页

作者： Kin Pan Au Chi Leung Chiang albert Chi yan chan Tan To Cheung Chung Mau Lo Kenneth Siu Ho Chok Department of Surgery Queen Mary HospitalThe University of Hong KongHong Kong 999077China Department of Clinical Oncology Queen Mary Hospitalthe University of Hong KongHong Kong 999077China

BACKGROUND Graft hepatocellular carcinoma(HCC)recurrence after liver transplant is more frequently *** hepatectomy is technically challenging and is associated with high *** body radiation therapy(SBRT)has been shown to be safe and effective for the treatment of primary ***,its role in HCC recurrence in a liver graft remains *** To evaluate the safety and efficacy of SBRT for the treatment of graft HCC recurrence after liver *** A retrospective study was *** 2012 to 2018,6 patients with intrahepatic HCC recurrence after liver transplant were treated with SBRT at Queen Mary Hospital,the University of Hong *** primary outcome was time to overall disease progression and secondary outcomes were time to local progression and best local response,as assessed with the Modified response Evaluation Criteria for Solid Tumours *** were monitored for treatment related toxicities and graft *** A total of 9 treatment courses were given for 13 *** median tumour size was 2.3 cm(range 0.7-3.6 cm).Two(22%)patients had inferior vena cava tumour *** best local treatment response was:5(55%)complete response,1(11%)partial response and 3(33%)stable *** a median follow up duration of 15.5 mo,no local progression or mortality was yet *** median time to overall disease progression was 6.5 *** were 6 regional progression in the liver graft(67%)and 2 distant progression in the lung(22%).There was no grade 3 or above toxicity and there was no graft dysfunction after *** SBRT appears to be safe in this *** progression is the mode of failure.

关键词： Stereotactic body radiotherapy Hepatocellular carcinoma Liver transplantation Recurrence Radiosurgery Outcomes

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Solitary extraovarian primary peritoneal carcinoma with direct invasion into the liver,diaphragm and lung without peritoneal dissemination or distant metastasis

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Hepatobiliary & Pancreatic Diseases International 2024年第3期23卷 322-325页

作者： Billy Ho Hung Cheung wong Hoi She Siu Lun Ho albert Chi yan chan Chung Mau Lo Tan To Cheung Department of Surgery The University of Hong KongHong KongChina Department of Pathology The University of Hong KongHong KongChina

To the Editor:Extraovarian primary peritoneal carcinoma(EOPPC)is an uncommon malignancy with many similarities to epithelial ovarian carcinoma in histological,clinical,and etiological aspects[1].This phenomenon is explained by their common embryonal origin,in which both develop from the coelomic epithelium in the early embryological *** their similarities,the incidence of EOPPC is significantly lower than that of epithelial ovarian carcinoma(6.78 cases per million vs.120.5 cases per million)[1].

关键词： peritoneal invasion metastasis

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