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Thesis (M.S.)--Boston University

Thesis (Ph. D.)--University of Hong Kong, 2007. / Title proper from title frame. Also available in printed format.

published_or_final_version / Medicine / Master / Master of Medical Sciences

To identify genes related to the heart developments, a total of 92 CHD families from Kaohsiung Veteran General Hospital, including 290 individuals with 95 affected, were genotyped in this study. Among these CHDs families, 54 were diagnosed as VSDs, accounted for 56.8% of all CHDs. Ten highly polymorphic markers, D22S420, D22S427, D22S1638, D22S941, D22S1648, D22S944, D22S1623, D22S264, D22S303 and D22S315, from centromere to the HSA22q telomere, covering HSA22q11 were genotyped by using a semi-quantitative fluorescent PCR. LOH at loci on 22q11 have been identified in 31 VSDs affected individuals. Candidate genes in HSA22q11 region was identified by bioinformatic methods firstly based on Ensembl (EMBL-EBI and the Sanger Institute), Genome browser (UCSU) and Map viewer (NCBI), and then FatiGO Data mining with Gene Ontology and Swiss-Prot annotations. In order to narrow down more specific cardiac development-related candidate genes within HSA22q11, TUBA8, DGCR2, DGCR14, CLTCL1, HIRA, TBX1 and GNB1L, from the centromere to telomere, were further subjected to dosage analyses by quantitative PCR. Results indicated the most frequent LOH region was localized on D22S1648. There are 48.3% and 38.7% of 31 VSDs patients with one copy deletion in TUBA8 and HIRA, respectively. Two VSDs patients were deleted in all seven candidate genes. Furthermore, there are one CAVC and one VSD patient were deleted in five consecutive genes, TUBA8, DGCR2, DGCR14, CLTCL1 and HIRA.

Objective: Since its implication, case payment system prevailed and increased cases number in the following years. Hospitals in Taiwan face continous challenge with emerging policies such as global budget and TW-DRG system, which is soon on the way. Remarkable medical resource comsuption is seen in patients with congenital heart deseases, with presence of structural heart defects at birth. The corrective treatment of congenital heart diseases, surgical and transcather, is usually undertaken in large-scale Hospitals in Taiwan.Congenital heart diseases. Items of case payment for congenital heart diseases treatment were implented years ago. However, in the literature there is yet no research about the results of its implentation. This study focus on three objectives: 1.To study of medical resource consumption of case payment system with congenital heart diseases. 2.To study the effect of patient and provider attributes on medical resource consuption in the case payment with congenital heart diseases. 3.To provide the evidence-based information for forcoming NHI policies. Materials and Methods: Retrospectively, claims data from Bureau of National Health Research Insurance (BNHI) for resource utilization of case payment for congenital heart diseases was analyzed. The data includes DD(Inpatient expenditures by admissions) and HOSB(Registry for contracted medical facilities) files ranged from 1997 to 2005. Data items meeting the criteria of both CHD and case payment were extracted. The relationships between patient factors (age, sex, DRG code), healthcare provider (contract type, accreditation type, ownership, area) and resource utilization (length of stay, expenditure) were studied. Results: A total of 4,366 admissions for CHD case payment was enrolled. The mean patients¡¦ age is 14.56 years. Female accounts for 55.46 % of the admissions. Among them there are 3954 open heart surgeries and 412 transcatheter treatments. Average hospital day is 11.6 and 3.37 days respectively. Average payment per case is NT$215,355 and NT$61,819 respectively. Different degrees of resource utilization occur with different patient or hospital characteristics, with statistical signifcance. More resource utilization tends to occur in extremes of age groups, e.g., newborn and elderly populations, regardless open heart surgery or transcatheter treatment cases. Also more hospital fee occurred in private hospital than public hospital, but less in medical centers when compared to metropolitian hospitals. For regression analysis of dependence of resource consumption on patient and hospital factors, the overall power of explanation is higher in transcather treatment cases. Among the factors influencing medical resource utilization, age_group and ownership are respectively the most significant factors. Conclusion: We have verify the hypothesis in this study, which emphasize that resource utlization differs by different patient and hospital factors. The pattern of resource utilization for this unique disease (CHD) and its discrepancy with concurrent payment criteria are evaluated in this study. Based on our results, adjustment of payment criteria should be reasonable to ensure early and adequate treatment for these patients. Thus this study provides strong insight for implication of TW-DRG for disease management. Further study will include aspects of resource utlization such as direct, indirect costs, tangle and intangle, and related complication and comorbidities.

Objective. Congenital heart disease (CHDs) in Taiwan cause twice as many children die each year comparing with childhood cancers. Prevalent CHDs are ventricular septal defects (VSDs) which accounted for ~40% Taiwanese population averagely. Studies on heart development-related genes on the human genome will provide valuable information for early diagnosis/prevention in eugenics and the development of therapeutic strategies. Methods. A total of 239 CHD families from Kaohsiung Veteran General Hospital, including 713 individuals with 245 affected, participated in this study. Among these CHDs families, 83 were diagnosed as VSDs, accounted for 34.7% of all CHDs. We initiated using a semi-quantitative fluorescent PCR method applying ten highly polymorphic markers that located within 22q11, genotyping analysis for deletion or loss of heterozygosity. In those cases that are identified as chromosome 22q11-independent VSDs, cardiac development-related candidate genes TBX5, CSX and JAG1 analyses were performed by Single-Strand Conformation Polymorphisms (SSCPs) and Temporal Temperature Gradient Gel Electrophoresis (TTGE) analyses to identify whether any genomic mutation/deletion exists. Results. So far, there are twenty-five VSD affected individuals have been identified as loss of heterozygosity (LOH) at loci D22S264, D22S303, D22S420, D22S427,D22S941, D22S944, D22S1638 and D22S1648. Candidate gene approaches will therefore be carried out within chromosome 22q11 subregion in these individuals. Conclusions. The frequency of CHD necessitating intervention in patients referred for cardiovascular evaluation after diagnosis of a chromosome 22q11 deletion. Routine screening for CHDs, including VSD and other imaging studied to identify the any microdeletion(s) or LOH.

Thesis (M.Med.Sc.)--University of Hong Kong, 2009. / Includes bibliographical references (p. 81-91).

published_or_final_version / Paediatrics / Master / Master of Medical Sciences

Background: Advance in cardiac intervention improved the survival of patients with congenital heart diseases (CHD). However, they may have propensity of thromboembolism and the use of antithrombotic agents was generally based on small studies and consensus opinion. Objective: To systematically review the current literature on the efficacy and safety of various antithrombotic agents in patients with CHD. Methods: Studies published in English during the period 1990 – 2012 were identified using keyword search from PubMed, Medline, EMBase, and Cochrane Library. Additional search from reference sections of the articles and clinical trial registry was performed. Data extracted included: type of studies, number of patients, follow-up period during which the patients were on the antithrombotic agents, number of thromboembolic (TE) events, and all, major and minor bleeding events. Event rate as the proportion of events of the patients and event per 100 patients-year were obtained for respective antithrombotic agent in each study. Composite event rate and event per 100 patients-year were estimated after weighting. Results: Forty studies consisted of 5144 patients were reviewed. Observation period of 8916.6 years was available in 25 studies. Diagnostic categories included: Fontan operation 15, systemic-to-pulmonary artery shunt 7, mechanical valve 8, atrial septal defect occlusion device 2, cyanotic heart 1, mixed 7. Antithrombotic prophylaxis was not used in 13 studies, warfarin in 26, aspirin alone in 22, combined aspirin and dipyridamole in 2. Clopidogrel with concomitant antithrombotic agents was reported in 5 studies. Overall composite TE event rate was 3.9% (95% CI 2.3 – 5.4%) and that of all bleeding rate was 2.8% (95% CI 0 – 5.5%), with 1.4% (95% CI 0.0 – 2.6%) for major and 2.2% (95% CI 0.0 – 4.3%) for minor bleeding. Composite TE rate for no prophylaxis (9.6%; 05% CI 3.7 – 15.5%) was significantly greater than that of warfarin (1.7%; 95% CI 0.1 – 3.3%) and aspirin (1.3%; 95% CI 0.0 – 3.0%). Both TE and all bleeding rate showed no difference between warfarin and aspirin, while major bleeding tended to be higher in warfarin than aspirin(0.9% vs 0.0%, p=0.06). Fontan patients had overall TE rate of 2.7% (95% CI 0.1 – 5.4%). Patients with no prophylaxis (10.2%; 95% CI 9.2 – 18%) had significantly greater TE rate than warfarin (1.4%; 95% CI 0.0 – 0.4%) or aspirin (1.2%; 95% CI 0.0 – 3.0%). All bleeding rate in Fontan patients was 0.5% (95% CI 0.0 – 4.3%). Both TE ad bleeding rates showed no difference between warfarin and aspirin. Overall TE rate for shunt was 7.2% (95% CI 3.7 – 14.3%), being similar between aspirin group and no antithrombotic group. Patients with mechanical valves had TE rate of 7.3% (95% CI 2.9 – 11.6%) and all bleeding rate of 7.2% (95% CI 4.2 – 10.2%). There was no statistical difference between warfarin and APA group. Patients with ASD occlusion device has TE rate of 0.1% (95% CI 0.0 – 0.2%). No bleeding event was reported in the studies. Conclusion: Patients with congenital heart diseases were at risk of developing thromboembolism which justified the use of anti-thrombotic prophylaxis. Further studies relating the thromboembolic risk profile of patients with CHD to the efficacy of anti-thrombotic agents might help in selection of anti-thrombotic agents. / published_or_final_version / Community Medicine / Master / Master of Public Health