published_or_final_version / Nursing Studies / Master / Master of Nursing in Advanced Practice

(Uncorrected OCR) Abstract Many studies have been conducted in Caucasian populations on the optimal body mass index cut-off for obesity, as well as the relationship between body mass index and percentage body fat and their associations with cardiovascular risk factors. However, few studies of this kind have been conducted in the Hong Kong Chinese population, This research is deemed to be important due to ethnic differences between Asians and Caucasians, Therefore, this dissertation aims to determine any ethnic differences from a sample of the local Hong Kong Chinese population, in order to advance health care policies controlling known cardiovascular risk factors. A total of 800 subjects were randomly selected from a pool of subjects participated in a Hong Kong Cardiovascular Risk Factor Prevalence study conducted in 1994-1996. These subjects were contacted and 453 disease-free subjects (210 males and 243 females) consented to participate in the current study, Data collected included serum and blood pressure measurements, body mass index, percentage body fat measured by bioelectrical impedance analysis, and a self-completed cardiovascular risk factor questionnaire, The mean age of the 453 subjects was 51.64 years (SD=12.3). When obesity was defined as percentage body fat ~ 25 and 2: 30 in males and females respectively, 23 kg/m2 was found to be the optimum cut-off value, with 78% correct classification (95% CI = 69%-87%). The corresponding sensitivity and specificity were 88% (95% CI = 81 %-95%) and 67% (95% CI = 57%-77%) respectively. On the other hand, if obesity was defined as percentage body fat ~ 25 and 2: 35 in males and females respectively, then 25 kg/m2 was found to be the best cut-off value with 82% correct classification (95% CI = 74%-90%). The corresponding sensitivity and specificity were 78% (95% CI = 69%-87%) and 85% (95% Cl = 78%-92%) respectively. Moreover, body mass index was found to be quadratically body fat. The quadratic relationship did not appear two genders, except that the percentage body fat of of females by 9.97 (SE=0.33). Finally, except for total cholesterol, high density lipoprotein cholesterol, and fasting glucose, body mass index did not provide any substantial information additional to percentage body fat on serum and blood pressure measurements. was the only measure on which percentage body fat did additional to body mass index. When waist-hip body mass index and percentage body fat,. except for body mass index did not have additional information on measurements when percentage body fat or/and [n conclusion, the optimal body mass index cut-off for obesity in Hong Kong Chinese was lower than the 30kg/m2 recommended by the World Health Organization, a clear reflection of ethnic difference between Asians and Caucasians. The quadratic relationship between percentage body fat and body mass index was similar in Hong Kong Chinese as in Caucasians and Blacks. Moreover, percentage body fat together with waist-hip-ratio were found to be better indicators of cardiovascular risk factors in Hong Kong. This was the first time such findings were found in the Hong Kong Chinese population. II / abstract / toc / Medical Sciences / Master / Master of Medical Sciences

published_or_final_version / Architecture / Master / Master of Architecture

published_or_final_version / Medical Sciences / Master / Master of Medical Sciences

published_or_final_version / Social Work / Master / Master of Social Work

published_or_final_version / Transport Policy and Planning / Master / Master of Arts in Transport Policy and Planning

University of Macau / Institute of Chinese Medical Sciences

"Background: Nasopharyngeal carcinoma (NPC) is endemic in southern China. Despite the improvement in radiotherapy (RT) technology, NPC patients still suffer from numerous and simultaneous distressing symptoms. / Aims: The aim of the study was to explore the feasibility of an intervention program (an educational intervention program) in managing the most distressing symptom cluster (nutrition impact symptom cluster) in NPC patients during RT. / Methods: The study was carried out in two parts. Part I consisted of groundwork research (n = 130) using a cross-sectional design to identify the most distressing symptom cluster. An instrument validation was also conducted at this point. Part II covered the development process and pilot testing of an educational intervention program, guided by the Medical Research Council (MRC) framework, to manage the nutrition impact symptom cluster identified in Part I. First, to inform development of the intervention, a systematic review was conducted to evaluate the effectiveness of psychoeducational intervention (PEI), which includes the educational intervention, in managing symptom clusters in patients with generic cancers. Second, a descriptive qualitative study was conducted through face-to-face semi-structured interviews with 25 NPC patients and 16 health professionals, separately, to provide further help in developing the intervention by investigating patients’ self-care experience and current clinical practice in managing the nutrition impact symptom cluster. Third, the feasibility and estimated effectiveness of the educational intervention program was explored in a pilot randomized controlled trial (RCT) (n = 40). Outcome measures, including severity of the nutrition impact symptom cluster, body weight, functional performance and quality of life (QOL), were assessed at baseline, week 3 of RT and at the end of RT. Inferential statistics, such as independent t-test, Chi-square test, Fisher’s exact test and the generalized estimating equation (GEE) model, were used to compare the baseline and various outcome variables between groups. / Results: In Part I, the Chinese version of the MD Anderson Symptom Inventory - Head and Neck Module (MDASI-HN-C) was found to be a reliable and valid instrument. The same dataset then revealed four symptom clusters in NPC patients during RT; the nutrition impact cluster was identified as the most distressing, and was thus chosen as the target outcome of the intervention. In Part II, the systematic review found that PEI, in particular, patient education, was a promising intervention to manage cancer symptom clusters. Then, the findings of the qualitative study further informed and guided the development of an educational intervention program. The pilot RCT found that the conducting the program in a clinical setting was feasible and well received by patients. It also had some favorable effects on managing the nutrition impact symptom cluster, in terms of relieving the cluster itself (Cohen’s d = -0.37), and improving the physical well-being (Cohen’s d = -0.15) and head and neck cancer (HNC) specific QOL (Cohen’s d = -0.05). / Conclusion: The implementation of the educational intervention program appears to be feasible with NPC patients during RT, showing some effect in improving the nutrition impact symptom cluster. A future full-scale study with an adequate sample is warranted." / 研究背景：鼻咽癌在中國南部高發。儘管放療技術在進步，鼻咽癌病人在接受放療期間仍然存在著各種同時出現的症狀困擾。 / 研究目的：本研究旨在測試一個健康教育干預項目在管理鼻咽癌病人放療期間最嚴重的營養相關症狀群的可行性。 / 研究方法：本研究分為兩個部分。第一部分採用橫斷面的研究方法（n = 130），目的是為了找出最嚴重的症狀群，包括檢驗一個量表的信效度。第二部分包括健康教育干預專案的設計和預實驗。首先，研究者做了一個系統評價來評估心理及健康教育干預對管理癌症病人症狀群的效果。然後，研究者又做了一個質性研究，通過與25名鼻咽癌放療病人和16名醫護人員面對面訪談來瞭解目前營養相關症狀群的管理現狀，以便為干預的設計提供進一步線索。最後，研究者做了一個隨機對照試驗的預實驗（n = 40），來評價本研究所設計的健康教育干預專案的可行性。研究指標包括營養相關症狀群的嚴重性、體重、功能水準以及生活品質，並於干預前、放療第3周以及放療結束進行測量。統計推斷方法包括獨立樣本t檢驗、卡方檢驗、Fisher確切概率法和廣義估計方程模型，用以比較組間差異。 / 研究結果：第一部分的研究結果表明，中文版的M. D. Anderson症狀調查表（頭頸）的信效度良好。此外，四個症狀群被發現，其中以營養相關症狀群最為嚴重，因此被選為本研究的干預目標。第二部分，通過系統評價，研究者發現心理及健康教育干預，尤其是健康教育對管理癌症病人的症狀群有一定效果。接著，質性研究的結果進一步提示了健康教育干預項目的必要性，並為該專案的設計提供了具體方案。最後，預實驗表明本研究所設計的健康教育干預專案是可行的並受病人歡迎。該項目在減輕營養相關症狀群（Cohen’s d = -0.37）以及提高與身體（Cohen’s d = -0.15）和頭頸癌相關（Cohen’s d = -0.05）的生活品質上有一定效果。 / 研究結論：本研究所設計的健康教育干預專案是可行的，並對管理鼻咽癌病人放療期間的營養相關症狀群有一定效果。將來需要做一個大規模的研究來驗證該項目的有效性。" / Xiao, Wenli. / Thesis Ph.D. Chinese University of Hong Kong 2016. / Includes bibliographical references (leaves 226-250). / Abstracts also in Chinese. / Title from PDF title page (viewed on 01, February, 2018). / Detailed summary in vernacular field only. / Detailed summary in vernacular field only. / Detailed summary in vernacular field only. / Detailed summary in vernacular field only. / Detailed summary in vernacular field only.

研究背景：視網膜色素變性是遺傳性和異構性視網膜退化疾病的最普遍的群體之一，臨床常見表現為進行性視力減退，可在中青年階段即導致完全失明。全球大多數種族發病率在1：4000。視網膜色素變性的遺傳方式可以是常染色體顯性遺傳，常染色體隱性遺傳和性連鎖。此外，約有40的視網膜色素患者被列為散發性，因為他們未有明確的家族遺傳背景。到今天為止，已發現有63個與視網膜色素變性有關的染色體位點，其中23個常染色顯性遺傳視網膜色素變性基因，36個常染色隱性遺傳視網膜色素變性基因和2個性連鎖遺傳視網膜變性的基因被確定。然而在所有這些基因或位點中，沒有一個單一的基因或突變导致超过10的視網膜色素變性病例。 / 研究目的：在這項研究中，我們在所建立的視網膜色素變性致病基因網絡的基礎上，研究其中6個重要的基因，我們在中國漢族人群中進行此項研究的主要目標為：（1）描繪這些治病基因在中國漢族視網膜色素變性人群中的突變概況和貢獻; （2）狩獵新的功能性突變，揭示已知的視網膜色素變性基因中可能潛在的未知途徑;（3）測試一種新的假說，即某些基因變異可能是視網膜色素變性－經典傳統單基因疾病－易感性因素。此外，我們還對臨床評估的結果進行了定量分析，以探討這些特征性的臨床指標與疾病的嚴重程度和進展之間的關系。 / 研究對象：本研究包括了172名單純型中國漢族視網膜色素變性患者（平均年齡：44.9±18.1歲）這些患者中包含各種遺傳方式，他們的家庭成員如果有需要和願意參加也被邀請加入這項研究。對照組分別為180名彼此無任何血源關係的中國漢族受試者（平均年齡：73.1±10.1歲），除老年性白內障外未罹患其他任何主要的眼疾。所有研究對象均在香港眼科醫院或香港威爾斯親王醫院眼科及視覺科學系被招募。 / 研究方法：覆蓋RP1，RHO，NR2E3，NRL和BEST1 基因的所有外顯子部分和外顯子內含子邊界部位的基因序列由Sanger測序方法進行測序分析。同時被測序分析的還有SNRNP200基因包括兩個功能域部分的外顯子區域12-16，22-32和38-45。基於網絡分析的計算機程序：PolyPhen，SIFT，PMUT，SAP，PolyPhen-2和SIFT-Blink，被用來預測錯義變異對蛋白質功能的潛在影響。 ScanProsite，SMART和NetGene2等程序被用來研究蛋白質的功能片段和預測編碼外顯子和剪接位點。由CLUSTAL-W多重序列比對程序對進化保守性的變種進行關聯分析。SPSS 15.0平臺被用來檢測次要等位基因頻率（MAF）> 5的單核苷酸多態性的相關性分析 。Haploview的軟件測試被用來糾正在多重比較的p值。此外，我們收集了31例臨床資料完整的病例，使用計算機軟件後期處理視網膜圖像量化生成視網膜中央動脈和靜脈等值（視網膜中央動脈直徑及視網膜中央靜脈直徑）。使用ImageJ軟件數字化掃描分析自動視野計檢查結果，以作為臨床參數和評測標準對視網膜色素變性的嚴重程度進行定量分析。並對受試病例的視力，視野，視網膜中央動脈和靜脈等值進行了回顧性橫斷面研究分析。同時也對標準化和延時暗適應，視網膜電圖進行了描述性分析 。 / 結果：在6個基因中共有15例視網膜色素變性患者發現13個候選致病突變，占我們中國人群視網膜色素患者的8.2（15/172）。它們分別是：RP1的p.D984G p.R1652L，p.R1370E，p.R667X，p.S2RfxX16和p.P1648SfsX13; RHO的p.P327HfsX32和p.P347L; NR2E3 p.V118M和p.G56R; NRL的p.R202W ; SNRNP200 的p.C502R，和p.R1779H的。兩個RHO突變，p.P327HfsX32和p.P347L以及SNRNP200 p.C502R在功能上可能直接導致結構蛋白缺陷。而與之相反的， SNRNP200中發現的突變p.R1779H 和NR2E3 中的p.V118M，在發病機制中可能發揮間接作用。在這項研究中，首次確定的突變NRL p.R202W，是目前為止唯一位於該基因的TF-bZIP功能區域的突變，可能通過減少相關轉錄因子的活性而導致疾病而有異於其他所有NRL突變致病機理的功能假說。並且這個突變存在於常染色體隱性遺傳模式，也由此引導出與視網膜色素變性發病相關的潛在的致病新途徑。我們還進行了在這個六個基因中發現的20個的單核苷酸多態性與視網膜色素變性發病的關聯研究。其中四個：RP1的rs2293869（c.2953A>T）和ENSSNP13481334（c.6098G>A），BEST1的rs17156609（c.18151356 G> A） 和SNRNP200的rs772175（c.5317C> T），這種關聯關係表現為輕度統計學差異（p值分別為：0.033，0.02，0.032，0.02）。值得註意的是rs772175在顯性模式的矯正p值為0.025，比值比為2.05（95置信區間：1.31-3.21），使得這個的單核苷酸多態性的攜帶者在我們中國漢族人群中有增加視網膜色素變性易感性的傾向。同時我們發現在這組視網膜色素變性患者中，視力和視野的逐步下降呈現年齡依賴性。退化性黃斑病變，周邊退行性改變和視網膜炎和白點狀視網膜炎（RPA）在一些個例中也被觀察到。暗適應能力下降和視網膜電圖異常存在於所有年齡段。視網膜血管測量顯示視野每減少100平方厘米，視網膜中央動脈直徑和視網膜中央靜脈直徑分別降低12.2μm和23.7μm（p值均小於0.05）。 / 結論：在這項研究中，我們首先基於蛋白質相互作用的分析建立了一個視網膜色素變性基因網絡圖譜。這個基因網絡顯示在已知的視網膜色素變性基因有潛在的致病新途徑。六個基因中所發現的致病突變在我們中國漢族視網膜色素變性患者中所占的比例小於10， 表明視網膜色素變性在我們中國漢族人群中需要進一步的基因分析。首次發現的突變NRL p.R202W的表明在視網膜色素變性潛在可能的新致病途徑。本研究也同時提供了在SNRNP200和視網膜色素變性之間存在重要易感關聯的第一證據，提出一個新概念，即視網膜色素變性可能也存在遺傳易感基因而非僅僅只有傳統的致病基因。臨床數據的定量評估顯示，在所研究的患者的視野缺損的嚴重程度的視網膜中央動脈和視網膜中央靜脈管徑的縮小密切相關，他們是潛在有用的臨床指標以監測視網膜色素變性的進展和今後的治療反應。已知的視網膜色素變性基因的進一步研究應該有助於我們了解更全面的疾病的分子基礎，並進一步制訂治療的策略。 / Background: Retinitis pigmentosa (RP) is one of the most prevalent and heterogeneous groups of hereditary retinal degenerative diseases present with progressive vision loss and likely total blindness in the middle stage of life. It affects about 1 in 4000 people in most ethnic groups worldwide. Transmission of RP can be autosomal dominant (adRP), autosomal recessive (arRP) and X-linked (xlRP). Moreover, in most important studies about 40% of RP patients are classified as simplex or sporadic RP since they show uncertain familial background. To date, 63 chromosomal loci are mapped for RP, in which 23 adRP, 36 arRP and 2 xlRP genes have been identified. However, no single gene/mutation alone accounts for more than 10% of unrelated RP cases. / Purpose: In this study, we investigated six important genes selected on the basis of a RP gene network which we proposed in our Chinese cohort, our major objectives includes: depicting the mutation profiles and contributions of these genes in Chinese RP; hunting for novel functional mutations which may reveal potentially novel pathway in known RP genes; using SNP association studies to identify any SNP as bio-markers to the genes that are predisposing individuals to RP, which is conventionally regarded as a monogenic disease caused by single mutations. Moreover, we have performed quantitative clinical assessments to explore the presence of putative clinical markers and their respective relationships with the disease severity and progression of RP. / Study subjects: This study included a Chinese Han cohort of 172 non-syndromic RP patients (mean age: 44.9±18.1 years) with mixed inherited patterns and their family members who continued to participate in the study The control subjects were 180 unrelated Chinese subjects (mean age: 73.1±10.1 years) who are free of major eye diseases except for senile cataract. All study subjects were recruited at the Hong Kong Eye Hospital or the Department of Ophthalmology and Visual Sciences of the Prince of Wales Hospital, Hong Kong, China. / Methods: Genomic DNA was analyzed for the gene sequences covering all coding exons and exon-intron boundaries of the RP1, RHO, NR2E3, BEST1 and NRL genes by the Sanger sequencing strategy. Also sequenced were exons 12-16, 22-32, and 38-45, which cover the two functional domains, of the SNRNP200 gene. Web-based computer programs: PolyPhen, SIFT, PMUT, SAP, PolyPhen-2 and SIFT Blink, were used to predict the potential impact of the missense variants on protein functions. ScanProsite, SMART and NetGene2 were used to study the functional motifs sites and predict coding exons and splicing sites. The evolutionary conservation of the variants was analyzed by the CLUSTAL-W multiple sequence alignment program. Association analysis was performed, by using the SPSS 15.0 platform, among the detected SNPs with a minor allele frequency (MAF) > 5%. A permutation test in the Haploview software was used to correct the p-values in multiple comparisons. Moreover, we post-processed the retinal images using computer-based software to generate the central retinal artery and vein equivalents (CRAE and CRVE). The automated perimetry results were digitally scanned and quantitative analysis conducted using the ImageJ software as a clinical parameter to indicate the severity of RP. For the clinical characterizations 31 patients with complete clinical information were investigated by a retrospective cross-sectional study using parameters of visual acuity (VA), visual fields (VFs), CRAE and CRVE. Standardized dark adaptation and full-field electroretinograms (ERGs) were also analyzed and prolonged dark adaptometry were performed. / Results: A RP gene network was constructed. Five representative genes (RHO, NR2E3, NRL, SNRNP200 and BEST1) and the traditional important RP gene RP1 were selected for gene analysis. A total of 13 candidate disease-causing mutations in 15 patients was identified among the 6 genes, accounting for 8.2% (15/172) of overall RP in our Chinese cohort. They were p.D984G, p.R1652L, p.R1370E, p.R667X, p.S2RfxX16 and p.P1648SfsX13 of RP1; p.P327HfsX32 and p.P347L of RHO; p.V118M and p.G56R of NR2E3; p.R202W of NRL; p.C502R, and p.R1779H of SNRNP200. The two RHO mutations, p.P327HfsX32 and p.P347L, and SNRNP200 p.C502R were predicted to cause a direct structural protein defect. While p.V118M in NR2E3 and p.R1779H in SNRNP200, which were first identified in this study, on the contrast, may play an indirect role in the pathogenesis. The NRL p.R202W, also first detected in this study, is the only mutation so far located in the TF-bZIP module of this gene and predicted to have reduced transcriptional activity. It may contribute to recessive transmission and indicate a potentially new pathway associated with RP. We also performed an association study of RP with 20 SNPs of these genes. Four of them: rs2293869 (c.2953A>T) and ENSSNP13481334 (c.6098G>A) in RP1, rs17156609 (c.1815+1356G>A) in BEST1, and rs772175 (c.5317C>T) in SNRNP200 showed mild statistical difference (p-value: 0.033, 0.02, 0.032, 0.02, respectively). Notably, rs772175 showed a permutation p-value of 0.025, with an odds ratio of 2.05 (95% confidence interval: 1.31-3.21) in a dominant model, conferring an increased association to RP. Progressive decline of visual acuity and visual field were age-dependent in these patients. Degenerative maculopathy, peripheral degenerative changes and retinitis punctata albescens (RPA) were present. Reduced dark adaptation and affected ERGs were present in all ages. Retinal vessel measurement shows CRAE and CRVE decreased by -12.2μm and -23.7μm, respectively (both p<0.05) for each 100 cm² decrease in visual field. / Conclusions: Based on the proteinprotein interaction profiling a RP gene network was generated and it suggests potentially new pathways of known RP genes. The six genes selected altogether only account for <10% of Chinese RP, indicating the need of further gene analysis for this disease. The identification of NRL p.R202W may indicate a potentially new pathway in RP. The current study provided the first evidence of significant association between SNRNP200 and RP, hinting a new concept that RP may have association SNPs, apart from conventional disease-causing mutations. Quantitatively clinical data assessment revealed narrowing of CRAE and CRVE which were correlated with the severity of visual field loss in the studied patients. They are potentially useful clinical markers for monitoring progression of RP and future treatment response. Out finding throw light on the disease mechanism and susceptibility of RP. Continuing the intensive investigations of genes in the RP Gene Network highlighting our study strategies should lead us into deeper understanding for RP and providing information for therapies. / Detailed summary in vernacular field only. / Detailed summary in vernacular field only. / Detailed summary in vernacular field only. / Detailed summary in vernacular field only. / Detailed summary in vernacular field only. / Detailed summary in vernacular field only. / Zhang, Xin. / Thesis (Ph.D.)--Chinese University of Hong Kong, 2012. / Includes bibliographical references (leaves 173-193). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstract also in Chinese. / ABSTRACT --- p.i / 中文摘要 --- p.iv / Table of Contents --- p.vii / List of Tables --- p.xi / List of Figures --- p.xiii / List of Abbreviations (alphabetical order) --- p.xv / Publications --- p.xviii / ACKNOWLEDGEMENTS --- p.xix / Chapter Chapter 1 --- INTRODUCTION --- p.1 / Chapter 1.1 --- Retinitis Pigmentosa --- p.1 / Chapter 1.1.1 --- Clinical presentations, pathology and treatment --- p.1 / Chapter 1.1.2 --- Epidemiology --- p.4 / Chapter 1.1.3 --- Histopathologic changes in retinitis pigmentosa --- p.5 / Chapter 1.2 --- Molecular Genetics of Retinitis Pigmentosa --- p.6 / Chapter 1.2.1 --- Inherited patterns --- p.6 / Chapter 1.2.2 --- RP genes --- p.9 / Chapter 1.2.2.1 --- Causative genes and their relative contributions --- p.9 / Chapter 1.2.2.2 --- Ethnic and regional differentiation in heredity in gene contributions --- p.18 / Chapter 1.2.2.3 --- Classification of RP genes based on functional involvements --- p.24 / Chapter 1.3 --- Genetics Research Strategies --- p.30 / Chapter 1.3.1 --- Re-sequencing of known RP genes --- p.32 / Chapter 1.3.2 --- Identify new genes --- p.33 / Chapter 1.4 --- RP Genetic Studies in Chinese --- p.37 / Chapter 1.5 --- Genetic Background --- p.38 / Chapter 1.5.1 --- Strategies for sequence-tagged-gene selection --- p.38 / Chapter 1.5.2 --- rhodopsin (RHO) --- p.39 / Chapter 1.5.3 --- retinitis pigmentosa 1(RP1) --- p.43 / Chapter 1.5.4 --- nuclear receptor subfamily 2, group E, member 3 (NR2E3) --- p.47 / Chapter 1.5.5 --- neural retina leucine zipper (NRL) --- p.48 / Chapter 1.5.6 --- small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200) --- p.50 / Chapter 1.5.7 --- bestrophin 1 (BEST1) --- p.51 / Chapter 1.6 --- Phenotypic Variabilities and Genotype-phenotype Correlations --- p.54 / Chapter 1.7 --- Objectives --- p.56 / Chapter Chapter 2 --- METHODS --- p.58 / Chapter 2.1 --- Study Subjects Recruitment --- p.58 / Chapter 2.2 --- Total Genomic DNA Extraction in Study Subjects --- p.60 / Chapter 2.3 --- Mutational Screening --- p.61 / Chapter 2.4 --- Statistical Methods --- p.68 / Chapter 2.4.1 --- Pairwise linkage disequilibrium test and Haplotype analysis --- p.68 / Chapter 2.4.2 --- Multivariable logistic regression analysis --- p.69 / Chapter 2.5 --- Variants Analysis Criteria --- p.70 / Chapter 2.6 --- Web-based in slico Bio-informatics Analysis Programs --- p.70 / Chapter 2.6.1 --- Web-based Gene Network Central[superscript TM] --- p.70 / Chapter 2.6.2 --- Polymorphism Phenotyping --- p.71 / Chapter 2.6.3 --- Sorting Intolerant From Tolerant --- p.72 / Chapter 2.6.4 --- The PMUT program --- p.73 / Chapter 2.6.5 --- Grantham Score --- p.74 / Chapter 2.6.6 --- PolyPhen-2 --- p.74 / Chapter 2.6.7 --- SIFT BLink --- p.75 / Chapter 2.6.8 --- Evolutionary conservation evaluation --- p.76 / Chapter 2.7 --- Retrospective Cross-sectional Clinical Investigations --- p.77 / Chapter 2.7.1 --- Patients and clinical materials --- p.77 / Chapter 2.7.2 --- Computer-assisted measurement of retinal vessel caliber --- p.77 / Chapter 2.7.3 --- Quantification assessment of visual fields --- p.78 / Chapter CHAPTER 3 --- RESULTS --- p.80 / Chapter 3.1 --- Study Subjects Demographics --- p.80 / Chapter 3.2 --- The RP Gene Network --- p.83 / Chapter 3.3 --- The RHO Gene --- p.85 / Chapter 3.3.1 --- Variants detected in the RHO gene --- p.85 / Chapter 3.3.3 --- Further investigations of those RHO mutations carrier families --- p.90 / Chapter 3.4 --- The RP1 Gene --- p.93 / Chapter 3.4.1 --- Variants detected in the RP1 gene --- p.93 / Chapter 3.4.2 --- Pathogenicity assessment --- p.95 / Chapter 3.4.3 --- The evolutionary conservation of RP1 --- p.98 / Chapter 3.4.4 --- Further investigations of those RP1 mutations carrier families --- p.98 / Chapter 3.4.4.1 --- Further investigations of p.R677X mutation family --- p.98 / Chapter 3.4.4.2 --- Further investigations of p.D984G mutation family --- p.101 / Chapter 3.4.4.3 --- Further investigations of those two novel frameshift mutations family --- p.104 / Chapter 3.4.4.3.1 --- Clinical manifestations of the individuals in the pedigree --- p.104 / Chapter 3.4.4.3.2 --- Mutation screening results of the individuals in the pedigree --- p.107 / Chapter 3.5 --- The NR2E3 Gene --- p.107 / Chapter 3.5.1 --- Variants detected in the NR2E3 gene --- p.107 / Chapter 3.5.2 --- Pathogenicity assessment --- p.109 / Chapter 3.5.3 --- The evolutionary conservation of NR2E3 --- p.112 / Chapter 3.5.4 --- Further investigations of novel p.V118M mutation family --- p.114 / Chapter 3.5.5 --- NR2E3 p.E121K in Chinese population --- p.114 / Chapter 3.6 --- The NRL Gene --- p.118 / Chapter 3.6.1 --- Variants detected in the NRL gene --- p.118 / Chapter 3.6.2 --- Pathogenicity assessment --- p.118 / Chapter 3.6.3 --- Further investigations of novel mutation p.R202W family --- p.122 / Chapter 3.7 --- The SNRNP200 Gene --- p.126 / Chapter 3.7.1 --- Variants detected in the SNRNP200 gene --- p.126 / Chapter 3.7.2 --- Pathogenicity assessment --- p.128 / Chapter 3.7.3 --- The evolutionary conservation of SNRNP200 --- p.131 / Chapter 3.8 --- The BEST1 Gene --- p.131 / Chapter 3.8.1 --- Variants detected in the BEST1 gene --- p.131 / Chapter 3.8.2 --- Pathogenicity assessment --- p.134 / Chapter 3.9 --- Association Study Between Selected SNPs and RP Among 6 Genes --- p.134 / Chapter 3.10 --- Clinical Features --- p.139 / Chapter 3.10.1 --- Clinical characteristics of study subjects --- p.139 / Chapter 3.10.2 --- Quantitative assessment of retinal arteriolar and venular calibers with visual field defect --- p.147 / Chapter CHAPTER 4 --- DISCUSSION --- p.152 / Chapter 4.1 --- RP in Hong Kong and Patient Recuritment --- p.152 / Chapter 4.2 --- Genes in the RP Gene Network --- p.152 / Chapter 4.3 --- RHO and RP --- p.154 / Chapter 4.4 --- RP1 and RP --- p.155 / Chapter 4.5 --- NR2E3 and RP --- p.157 / Chapter 4.6 --- NRL and RP --- p.160 / Chapter 4.7 --- SNRNP200 and RP --- p.161 / Chapter 4.8 --- BEST1 and RP --- p.164 / Chapter 4.9 --- Identifying Association SNPs vs Disease Causing Mutations in RP --- p.165 / Chapter 4.10 --- Perspectives Quantitative Clinical Assessment for Monitoring Progression of RP or Potential Response of RP therapy --- p.167 / Chapter CHAPTER 5 --- CONCLUSIONS --- p.171 / References --- p.173

Tse Man. / Accompanying booklet titled: Dietary assessment food portion booklet. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2004. / Includes bibliographical references (leaves 101-122). / Abstracts in English and Chinese. / Acknowledgements --- p.i / Abstract --- p.ii / Abstract (Chinese version) --- p.iv / Table of contents --- p.vi / List of figures --- p.x / List of tables --- p.xi / List of abbreviations --- p.xiv / Chapter Chapter one: --- Introduction --- p.1 / Breast cancer trends in Hong Kong --- p.1 / Risk factors for breast cancer occurrence --- p.4 / "Body weight, obesity, hormones and breast cancer" --- p.4 / Evidence for postmenopausal women --- p.4 / Evidence for premenopausal women --- p.6 / Hormones and breast cancer --- p.7 / Dietary factors: Foods and nutrients --- p.11 / Animal foods and fats --- p.11 / Dietary fats --- p.13 / Other animal foods --- p.14 / Fruit and vegetable intakes --- p.14 / Positive family history --- p.15 / Alcohol consumption and cigarette smoking --- p.15 / Physical Activity --- p.17 / "Cancer, obesity and immunity" --- p.17 / Aims and scope of the study --- p.19 / Chapter Chapter two: --- Methodology --- p.22 / Questionnaires and their derivation --- p.22 / Literature derivation of the questionnaires --- p.22 / Pretest of the questionnaires --- p.25 / Research ethics --- p.26 / Subject recruitment --- p.26 / Anthropometric measurements --- p.27 / Interviews --- p.28 / First interview --- p.28 / Second and third telephone interviews --- p.29 / Immunoassays --- p.30 / Materials for immunoassays --- p.30 / Immunophenotyping of cells --- p.30 / MultiTEST´ёØ four-color direct immunofluorescence reagent kit --- p.32 / Human tumor neurosis factor-alpha (TNF-α) Quantikine® high sensitivity enzyme-linked immunosorbent assay (ELISA) kit --- p.33 / Methods for immunoassays --- p.33 / Flow cytometric analysis --- p.34 / TNF-α Quantikine® high sensitivity ELISA assay --- p.35 / Data management --- p.35 / Statistical methods --- p.35 / Data analysis --- p.36 / Dietary analysis --- p.36 / Definition of weight status --- p.37 / Measurements of immune cell levels --- p.37 / Chapter Chapter three: --- Results --- p.39 / Participation rate --- p.39 / Characteristics of the patients --- p.40 / Demographics --- p.40 / Pregnancy and breast-feeding experiences --- p.42 / Medical history --- p.43 / Body weight and obesity status --- p.45 / Dietary patterns --- p.46 / Fat and oil removal habit when eating meat and poultry --- p.46 / Perceived fat consumption --- p.46 / Eating out habits --- p.47 / Vegetarian diet adoption and food allergy or intolerance --- p.48 / Cooking methods --- p.48 / Alcohol consumption and supplementation habits --- p.50 / Preferences and perceived amounts of consumption on food groups --- p.51 / Cooking oils used at home --- p.52 / Nutrient intake patterns from dietary recalls --- p.53 / Soy intakes --- p.55 / Meal locations --- p.55 / Energy intakes by weight status --- p.56 / Food group intakes by FFQ --- p.57 / Food items not covered by FFQ --- p.62 / Top ten fat and fiber contributors by FFQ --- p.63 / Daily fruit and vegetable intakes by FFQ and 3 days' dietary recalls --- p.64 / Correlation of FFQ and 3 days' dietary recalls by food group intakes --- p.64 / Correlation of FFQ and 3 days' dietary recalls by fat and fiber intakes --- p.65 / Fat and fiber intakes by weight status --- p.66 / Other lifestyle patterns --- p.68 / Exercise participation and smoking habits --- p.68 / Daily activities' participation by weight status --- p.69 / Immune status / Overview of general immune cell levels --- p.71 / Immune status and BMI weight grouping --- p.72 / Immune status and overweight --- p.74 / Immune status and percent body fat --- p.76 / Immune status and waist-hip ratio --- p.77 / "Weight status, adiposity and immune status: summary" --- p.78 / Immune status and protein intakes --- p.82 / Immune status and fat intakes --- p.83 / Immune status and fiber intake --- p.84 / Immune status and vitamin C intake --- p.85 / Immune status and menopausal status --- p.86 / Chapter Chapter four: --- Discussion / Implications of findings --- p.88 / Interpreting the Immune status of the subjects --- p.88 / Lymphocyte and NK cell levels --- p.89 / Regulatory T cell (Treg) levels --- p.89 / TNF-α levels --- p.90 / Immune status and nutrient intakes --- p.90 / Typical dietary patterns of the subjects --- p.91 / Physical activity patterns --- p.94 / Weight status --- p.95 / "Subjects' fat, fiber intakes and anthropometric measurements compared to previous research" --- p.96 / Limitations of the study --- p.96 / Future directions of research --- p.98 / Chapter Chapter five: --- Conclusion --- p.99 / References --- p.101 / Appendices --- p.123 / Chapter A1 --- Questionnaire (Chinese version) --- p.123 / Chapter A2 --- Questionnaire (English version) --- p.138 / Chapter B1 --- Food frequency questionnaire (Chinese version) --- p.153 / Chapter B2 --- Food frequency questionnaire (English version) --- p.156 / Chapter C --- Dietary assessment food portion booklet --- p.160 / Chapter D1 --- 3 days dietary recall questionnaire (Chinese version) --- p.161 / Chapter D2 --- 3 days dietary recall questionnaire (English version) --- p.174 / Chapter El --- Consent form (Chinese version) --- p.187 / Chapter E2 --- Consent form (English version) --- p.189 / Chapter F --- Results of patient invitation to participate during recruitment period --- p.191