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.

No description available.

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 (Ph. D.)--University of Canterbury, 2009. / Typescript (photocopy). Includes bibliographical references (leaves 158-205). Also available via the World Wide Web.

Thesis (Ph. D.)--University of Texas at Austin, 1999. / Vita. Includes bibliographical references (leaves 122-130). Available also in a digital version from Dissertation Abstracts.

Thesis (Ph.D.)--York University, 2008. Graduate Programme in Psychology. / Typescript. Includes bibliographical references (leaves 142-164). Also available on the Internet. MODE OF ACCESS via web browser by entering the following URL: http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&res_dat=xri:pqdiss&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&rft_dat=xri:pqdiss:NR38999

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

Thesis (Ph. D.)--University of Hong Kong, 2002. / Includes bibliographical references (leaves 253-284).

Thesis (M.S.)--Worcester Polytechnic Institute. / Keywords: oxygen consumption; PET; blood flow. Includes bibliographical references (p. 58-61).