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PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome

Chinese Medical Journal 2006年第20期119卷 1749-1752页

作者： Siu-Fong June Or Ming-for Tony Tong fai-man ivan lo Chi-Wai Law Ting-Yat Miu Delphine Trochet Tak-Sum Stephen Lam Clinical Genetic Service Department of Health Hong Kong SAR China Department of Paediatrics Queen Elizabeth Hospital Hong Kong SAR China Department de Genetique Hospital Necker-Enfants Malades Paris France

Congenital central hypoventilation syndrome （CCHS, OMIM #209880） is a rare autosomal dominant disorder of the autonomic nervous system （ANS） characterized by an abnormal autonomic ventilatory response to progressive hypercarbia and sustained hypoxemia. Patients typically present in the newborn period with hypoventilation or apnea asleep, awake, or both, without any associated cardiac, pulmonary, neuromuscular or brainstem lesions. Rarely, some patients may present at a later age and are diagnosed to have late onset central hypoventilation syndrome （loCHS）.1 Other features of ANS dysfunction such as feeding difficulty due to oesophageal dysmotility, severe constipation in the absence of Hirschsprung disease, poor regulation of basal body temperature, episodes of profuse sweating, pupillary and ocular abnormalities, decreased beat-to-beat variability of heart rate, attenuated response of heart rate to exercise, abnormal fluctuation of blood pressure, decreased perception to pain, and decreased perception to anxiety may be variably present but not essential for diagnosis Furthermore, this central hypoventilation can occur as an isolated feature or in association with a number of neurocristopathies, notably Hirschsprung disease （Haddad syndrome, OMIM #209880） and tumours of the sympathetic nervous system particularly neuroblastoma, ganglioneuro- blastoma, and ganglioneuroma, which were found in 20% and 5%--10% of CCHS patients, respectively.2 Studies of genes pertinent to the early embryologic development of the neural crest cells, specifically the endothelin and the RET-GDNF signaling pathways, have recently led to the identification of PHOX2B as the major disease causing gene for CCHS.2-6 PHOX2B was mapped to chromosome 4p12 and consists of 3 exons. It encodes a highly conserved paired-like homeobox transcription factor of 314 amino acids linked to the RET-GDNF signaling

关键词： congenital central hypoventilation syndrome PHOX2B Chinese mutation

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The Sum and Difference of Two Constant Elasticity of Variance Stochastic Variables

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Applied Mathematics 2013年第11期4卷 1503-1511页

作者： Chi-fai lo Department of Physics Institute of Theoretical Physics The Chinese University of Hong Kong Hong Kong China

We have applied the Lie-Trotter operator splitting method to model the dynamics of both the sum and difference of two correlated constant elasticity of variance (CEV) stochastic variables. Within the Lie-Trotter splitting approximation, both the sum and difference are shown to follow a shifted CEV stochastic process, and approximate probability distributions are determined in closed form. Illustrative numerical examples are presented to demonstrate the validity and accuracy of these approximate distributions. These approximate probability distributions can be used to valuate two-asset options, e.g. spread options and basket options, where the CEV variables represent the forward prices of the underlying assets. Moreover, we believe that this new approach can be extended to study the algebraic sum of N CEV variables with potential applications in pricing multi-asset options.

关键词： Constant Elasticity of Variance Stochastic Variables Probability Distribution Functions Backward Kolmogorov Equation Lie-Trotter Splitting Approximation

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A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy

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Chinese Medical Journal 2006年第13期119卷 1079-1087页

作者： ivan fai-man lo Kent Keung-san Lai Tony Ming-for Tong Stephen Tak-sum Lam Clinical Genetic Service Department of HealthHong KongChina

Background Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy （BMD） are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chi... 详细信息

关键词： Duchenne muscular dystrophy Becker muscular dystrophy Chinese DMD mutation deletion duplication

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THREE NOVEL FOXL2 GENE MUTATIONS IN CHINESE PATIENTS WITH BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME

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Chinese Medical Journal 2006年第1期119卷 49-52页

作者： OR SIU-FONG JUNE TONG MING-FOR TONY lo fai-man ivan LAM TAK-SUM STEPHEN CLINICAL GENETIC SERVICE DEPARTMENT OF HEALTH HONG KONG SAR CHINA

Blepharophimosis-ptosis-epicanthus inversus Psyndrome （BPES, OMIM # 110100） is a rare autosomal dominant disorder affecting the eyelid and ovarian development. When co-occurred together, it is type Ⅰ and when only the eyelid abnormalities are present, it is type Ⅱ. Both types had been mapped to the same locus 3q23 on the basis of cytogenetic rearrangements 1-3 and linkage analyses. 4-6 Subsequently,

关键词： blepharophimosis-ptosis-epicanthus inversussyndrome FOXL2 gene mutation multiplex ligation-dependent probe amplification

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Ferroptosis and glaucoma: implications in retinal ganglion cell damage and optic nerve survival

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Neural Regeneration Research 2023年第3期18卷 545-546页

作者： Ming Yang Kwok-fai So Wai-Ching Lam Amy Cheuk Yin lo Department of Ophthalmology School of Clinical MedicineLi Ka Shing Faculty of MedicineThe University of Hong KongHong Kong Special Administrative RegionChina State Key Laboratory of Brain and Cognitive Sciences The University of Hong KongHong Kong Special Administrative RegionChina GHM Institute of CNS Regeneration Jinan UniversityGuangzhouGuangdong ProvinceChina

Glaucoma and visual pathway degeneration:Glaucoma is the leading cause of irreversible blindness worldwide,which leads to a progressive loss of *** can be classified into two types:primary open-angle glaucoma and primary closed-angle *** open-angle glaucoma can be caused by the blockage of the trabecular meshwork,and this results in elevation of the intraocular pressure(IOP),leading to retinal ganglion cell(RGC)***,many glaucoma patients have normal IOP;this is known as normal-tension ***,excitotoxic damage and oxidative stress can also lead to RGC damage in normal-tension glaucoma(Almasieh et al.,2012).Glaucomatous genes such as TIGR,OPTN,and CYP1B1 have been suggested to contribute to the pathogenesis of ***,some glaucomatous patients may remain asymptomatic in the early,moderate,and late *** type of glaucoma is primary closed-angle *** this clinical condition,a relative pupillary block is contributed by the iris obstructing aqueous *** patients may suffer from corneal swelling,headache,nausea,and blurred vision during the acute phase.

关键词： glaucoma damage degeneration

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A Dynamic Forecasting System with Applications in Production logistics

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厦门大学学报（自然科学版） 2002年第S1期41卷 133-134页

作者： CHEUNG Chi-fai LEE Wing-bun lo Victor Department of Industrial and Systems Engineering The Hong Kong Polytechnic University Hung HomDepartment of Industrial and Systems EngineeringThe Hong Kong Polytechnic University Hung Hom Kowloon Hong Kong ChinaKowloonHong Kong China Kaz (Fast East) Ltd Room 1705-07Kodak House II39 Healthy Street EastNorth Point Hong Kong China

Production logistics involve the co-ordination of ac tivities such as production and materials control (PMC), inventory management, p roduct life cycle management, etc. Those activities demand for an accurate forec asting model. However, the conventional methods of making sell and buy decision based on human forecast or conventional moving average and exponential smoothing methods is no longer be sufficient to meet the future need. Furthermore, the un derlying statistics of the market information change from time to time due to a number of reasons such as change of global economic environment, government poli cies and business risks. This demands for highly adaptive forecasting model which is robust enough to response and adapt well to the fast changes in the dat a characteristics, in other words, the trajectory of the "dynamic characteristic s" of the data. In this paper, an adaptive time-series modelling method was proposed for short -term dynamic forecasting. The method employs an autoregressive (AR) time-seri es model to carry out the forecasting process. A modified least mean square (MLM S) adaptive filter algorithm was established for adjusting the AR model coeffici ents so as to minimise the sum of squared of forecasting errors. A prototype dyn amic forecasting system was built based on the adaptive time-series modelling m ethod. Basically, the dynamic forecasting system can be divided into two phases, i.e. the Learning Phase and the Application Phase. The learning procedures star t with the determination of upper limit of the adaptation gain based on the conv ergence in the mean square criterion. Hence, the optimum ELMS filter parameters are determined using an iteration algorithm which changes each filter parameter i.e. the order, the adaptation gain andthe values initial coefficient vector on e by one inside a predetermined iteration range. The set of parameters which giv es the minimum value for sum of squared errors within the iteration range is sel ecte

关键词： adaptive time-series model dynamic forecasting production logistics modified least mean square algorithm

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Pre-ischemia electro-acupuncture potentiates the expression of Bcl-2 and transforming growth factor-beta 1 in rat brains

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Neural Regeneration Research 2012年第24期7卷 1859-1865页

作者： Ka Keung Yip Samuel CL lo Kwok-fai So Dora MY Poon Mason CP Leung Department of Rehabilitation Sciences the Hong Kong Polytechnic UniversityHung HomHong Kong Special Administrative RegionChina Department of Applied Biology and Chemical Technology the Hong Kong Polytechnic UniversityHung HomHong Kong Special Administrative RegionChina Department of Anatomy the University of Hong KongPokfulamHong Kong Special Administrative RegionChina

The expression of the anti-apoptotic molecules Bcl-2 and transforming growth factor-beta 1 is known to confer protective effects on the cerebral ischemia-reperfusion *** current study investigated the expression levels of Bcl-2 and transforming growth factor-beta 1 in response to multiple pre-ischemia electro-acupuncture at acupoints Zusanli（ST36）and Fengchi（GB20） *** were divided into five groups：uninjured,control,non-acupoint,GB20 and ST36. Rats in the non-acupoint,GB20 and ST36 groups received 30 minutes（3 times or 18 times）of electro-acupuncture stimulation before experimental cerebral ischemia was ***-2 and transforming growth factor-beta 1 were found to be significantly increased in the ST36 groups with either 3 or 18 electro-acupuncture treatments（P〈0.05）.The production was higher with 18 electro-acupuncture treatments in the ST36 groups（P〈0.05）.In the GB20 groups,significant increase was only observed in transforming growth factor-beta 1 with 18 electro-acupuncture treatments（P〈0.05）.No significant elevation of the level of transforming growth factor-beta 1 was observed in the non-acupoint ***,the production of Bcl-2 increased with 18 treatments in the non-acupoint groups（P〈0.05）.The data suggest that multiple pre-ischemia electro-acupuncture at ST36 was effective in conferring neuroprotective effect on the brain by means of upregulation of Bcl-2 and transforming growth factor-beta 1 and the effect was increase with the number of treatment.

关键词： cerebral ischemia stroke prevention electro-acupuncture transforming growth factor-beta 1 Bcl-2 acupoint

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Lycium barbarum polysaccharides related RAGE and Aβ levels in the retina of mice with acute ocular hypertension and promote maintenance of blood retinal barrier

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Neural Regeneration Research 2020年第12期15卷 2344-2352页

作者： Xue-Song Mi Qian Feng Amy Cheuk Yin lo Raymond Chuen-Chung Chang Sookja Kim Chung Kwok-fai So Department of Ophthalmology the First Affiliated Hospital of Jinan UniversityGuangzhouGuangdong ProvinceChina Guangdong-Hong Kong-Macao Institute of CNS Regeneration Jinan UniversityGuangzhouGuangdong ProvinceChina Changsha Academician Expert Workstation Aier Eye Hospital GroupChangshaHunan ProvinceChina State Key Laboratory of Brain and Cognitive Sciences Hong Kong Special Administrative RegionChina Department of Ophthalmology The University of Hong KongHong Kong Special Administrative RegionChina Faculty of Medicine Macao University of Science and TechnologyMacao Special Administrative RegionChina School of Biomedical Science LKS Faculty of MedicineThe University of Hong KongHong Kong Special Administrative RegionChina

Our previous study verified the protective effects of Lycium barbarum polysaccharides(LBP)on retinal neurons and blood vessels in acute ocular hypertension(AOH)*** investigate the effect of LBP on the reactivity of retinal glial cells,an AOH mouse model was established in one eye by maintaining ocular hypertension of 90 mm Hg for 60 *** LBP solution(1 mg/kg)or phosphate-buffered saline was administrated to the mice by gavage daily,starting 7 days before the AOH insult and continuing until the mice were sacrificed for specimen collection on day 4 *** AOH insult,increased numbers of astrocytes and microglia were observed,together with decreased expression of the following glial cell biomarkers in the retinal ganglion cells of AOH mice:glial fibrillary acidic protein,glutamine synthetase,aquaporin-4,S-100 proteins,ionized calcium-binding adaptor molecule 1,amyloid precursor protein and receptor of advanced glycosylation *** intervention with LBP,the above changes were significantly ***,morphological remodeling of blood vessel-associated retinal astrocytes,marked by glial fibrillary acidic protein,was also *** results,taken together,suggest that LBP regulated the production of amyloid-βand expression of receptor of advanced glycosylation end-products,as well as mediating the activity of retinal glial cells,which may lead to the promotion of better maintenance of the blood-retinal barrier and improved neuronal survival in AOH *** study was approved by the Committee for the Use of Live Animals in Teaching and Research(approval ***-#1664-08).

关键词： astrocyte blood-retinal barrier glial cell Lycium barbarum microglia model plasticity remodel retina

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Molecular genetic analysis of a Chinese patient with Fabry disease

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Chinese Medical Journal 2000年第2期113卷 90-92页

作者： Ching-Wan Lam Ying-Tat Mak Yuk-Ming Dennis lo Sui-FanTong Ka-fai To Fernand Mac-Moune Lai Department of Chemical Pathology Chinese University of Hong Kong Prince of Wales Hospital Hong Kong China. ching-wanlam@cuhk.edu.hk

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A prospective cohort of men with localized prostate cancer on active surveillance protocol in Hong Kong,China:what did we learn?

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Asian Journal of Andrology 2024年第3期26卷 245-249页

作者： Xiaobo Wu ivan Ching-Ho Ko Cindy Yeuk-Lam Hong Samuel Chi-Hang Yee Jeremy Yuen-Chun Teoh Samson Yun-Sang Chan Ho-man Tam Chi-Kwok Chan Chi-fai Ng Peter Ka-Fung Chiu SH Ho Urology Centre Department of SurgeryFaculty of MedicineThe Chinese University of Hong KongHong KongChina

This study aimed to report the outcomes of active surveillance(AS)in the management of low-risk prostate cancer(PCa).It recruited87 men who were prospectively followed up according to the Prostate Cancer Research International Active Surveillance(PRIAS)protocol with local adaptation at SH Ho Urology Centre,Prince of Wales Hospital,Hong Kong,*** investigated the predictorsof disease progression and found that baseline prostate-specific antigen density(PSAD)and the presence of the highest ProstateImaging-Reporting and Data System(PI-RADS)score 5 lesion on magnetic resonance imaging(MRI)are significantly correlatedwith disease ***,men with PSAD>0.2 ng ml^(−2)or PI-RADS 4 or 5 lesions had significantly worse upgradingfree survival compared to those with PSAD≤0.2 ng ml−2 and PI-RADS 2 or 3 *** study concludes that AS is a safe andeffective management strategy for selected patients to defer radical treatment and that most disease progression can be detectedafter the first repeated *** combination of PSAD>0.2 ng ml^(−2)and PI-RADS 4 or 5 lesions may serve as a useful predictorof early disease progression and provide a guide to optimize follow-up protocols for men in different risk groups.

关键词： active surveillance cohort localized prostate cancer

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