The majority of human cancers arise due to cells inabitily to maintain genomic stability. Cytogenetic changes (especially chromosomal aberrations) in peripheral blood lymphocytes which reflect not only the individual exposure to genotoxic factors, but also individual sensitivity to genotoxic effect and the tumor is late consequence to genotoxic effect. Summary epidemiological prospective studies over the last ten years have shown that increased level of chromosomal aberrations in peripheral blood lymphocytes is predictive of cancer risk. This thesis is focused on the detection of particular types of chromosomal damage in patients with choosed types of newly diagnosed cancers compared to healthy control persons. We cytogenetically analyzed 100 patients with colorectal cancer and 298 controls and 123 patients with breast cancer and 123 controls - healthy women. We compared the percentage of aberrant cells, the percentage of total aberrations, the percentages of chromatid and chromosome aberrations found in patients with both types of tumors and in controls and we verified the predictive value of chromosomal aberrations as a biomarker of cancer risk. In patients with colorectal cancer was statistically significantly increased only the level of chromatid aberrations (CHTA) (1,45±1,28) compared to...

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Art and optics are inseparable. Though seemingly opposite disciplines, the combination of art and optics has significantly impacted both culture and science as they are now known. As history has run its course, in the sciences, arts, and their fruitful combinations, optical aberrations have proved to be a problematic hindrance to progress. In an effort to eradicate aberrations the simple beauty of these aberrational forms has been labeled as undesirable and discarded. Here, rather than approach aberrations as erroneous, these beautiful forms are elevated to be the photographic subject in a new body of work, On the Bright Side. Though many recording methods could be utilized, this work was composed on classic, medium-format, photographic film using white-light, Michelson interferometry. The resulting images are both a representation of the true light rays that interacted on the distorted mirror surfaces (data) and the artist’s compositional eye for what parts of the interferogram are chosen and displayed. A detailed description of the captivating interdisciplinary procedure is documented and presented alongside the final artwork, CCD digital reference images, and deformable mirror contour maps. This alluring marriage between the arts and sciences opens up a heretofore minimally explored aspect of the inextricable art-optics connection. It additionally provides a fascinating new conversation on the importance of light and optics in photographic composition.

QC 351 A7 no. 37 / This paper derives four one-parameter families of two-surface optical systems having the property that, relative to a well-defined pair of conjugate points, one finite and the other infinite, third-order spherical aberration is zero. The two surfaces can be either refracting or reflecting. Aperture planes are defined for which third-order astigmatism is zero. An expression for coma is also derived. Assuming that the systems will be constructible, a means of defining domains for the free parameter is indicated. Possible applications of these results to optical design are included.

QC 351 A7 no. 39 / Optical systems known as "null correctors" are often required to test certain aspheric optical surfaces. This report classifies these systems on the basis of their first -order geometry and analyzes the merits of each type. The behavior of optical aberrations, especially spherical aberration, in these systems is examined in the context of computer optimization techniques, particular attention being given to some design problems unique to null correcting systems. Orthonormal concepts are applied to the problem of reducing spherical aberration in null correctors. It is shown that exceedingly simple merit functions may be constructed to streamline the optimization process. These merit functions are composed of simple linear sums of the angular spherical aberration coefficients B1, B3, B5, and B7. Thus, minimizing the following sums will improve nearly diffraction - limited systems: ( - 13 B1 + 1 B3 - g' B5 - B7) , ( 4.131 - B3 - B5) , ( - 2B1 - B3) , and ( - B1) /1-5- 3/7 3 or ( 120 B3 + 960 B5 + 840 B7 ) , ( 840 B5 + 2520 B7) , and ( 840 B7) Non -diffraction - limited systems may be optimized by minimizing the sums ( 6 B3 + 5 B5 + 5 B7) , ( p B5 + 3 B7) , and ( 1 0 B7) To demonstrate the effectiveness of the techniques discussed, the process of designing a specific null correcting system is followed in detail.

New and more advanced prenatal tests have steadily been introduced in the Swedish maternity care system in the last 30 years. The combined test, CUB, was introduced step wise in Swedish maternal care from 2008 and onward. The CUB test detects children with chromosomal abnormalities prenatally and is offered at no charge for women in treated counties. This thesis investigate the reform using a difference-in-difference approach to determine the effect of the CUB test on the number of late abortions performed. My theoretical framework suggest that the introduction of CUB should increase the number of abortions of children with chromosomal aberrations. As supported by theory I find a positive effect of CUB on late abortions for my main group of interest, women 35-39 years old. These women were the ones most effected by CUB. The positive effect of 0.47 percentage units is statistically significant at the 10% level. It corresponds to a 3.6-7.1% decrease in the number of babies born with chromosomal aberrations.

O alcoolismo é uma doença multifatorial que consiste numa interação de influências genéticas e ambientais, sendo um dos principais causadores de danos à saúde. Deste modo, é muito importante a realização de estudos que envolvam a investigação de danos provocados ao material genético pelo consumo excessivo de bebidas alcoólicas bem como daqueles que investiguem a susceptibilidade individual às doenças causadas pelo alcoolismo. As aberrações cromossômicas e os polimorfismos para enzimas de metabolização de xenobióticos são importantes instrumentos para estes estudos. Neste trabalho foram investigados o possível efeito clastogênico do álcool e também a possível associação entre a ocorrência dos genótipos nulos GSTM1 e GSTT1 e dos polimorfismos CYP1A1-MspI, CYP2D6-BstN1 e CYP2E1-PstI com o desenvolvimento de cirrose e pancreatite, além da freqüência da mutação TaqA1 do gene DRD2 em alcoolistas. Os indivíduos analisados foram alcoolistas com consumo diário de álcool >60g. Para a análise de AC foram analisados 26 alcoolistas e 22 indivíduos controles. Para o estudo dos polimorfismos genéticos a amostra compreendeu 124 alcoolistas crônicos e 124 controles. Os alcoolistas não-fumantes apresentaram um valor de IM maior do que os controles não-fumantes (p = 0,03). As freqüências de ACs nos alcoolistas não foram diferentes das do grupo controle. Não foram encontradas associações de risco entre os genótipos nulos dos genes GSTM1 e GSTT1, e os genótipos mutantes de CYP2D6 e CYP2E1, e o desenvolvimento de cirrose e pancreatite. O genótipo homozigoto mutante m2/m2 do gene CYP1A1 apresentou um risco significativo para o desenvolvimento de cirrose e pancratite em alcoolistas. Não foram encontradas freqüências significativas na ocorrência do alelo A1 do gene DRD2 em alcoolistas. / Alcoholism is a disease consisted of an interaction of genetic and environmental factors, being responsible for serious damage to human health. This way, studies that investigate damage caused by heavy consumption of alcohol as well those that investigate individual susceptibility originated by alcoholism are very important to our society. Chromosomal aberrations (CAs) and polymorphisms to xenobiotic metabolizing enzymes are important tools to these studies. In this work we investigated the possible clastogenic effect of alcohol and the possible association between the occurrence of null genotypes for GSTM1 and GSTT1 enzymes and polymorphisms CYP1A1-MspI, CYP2D6-BstN1 and CYP2E1-PstI with the development of cirrhosis and pancreatitis. Furthermore, we investigate the possible association of TaqA1 polymorphism for DRD2 neurotransmitter in alcoholic. Our sample consisted of alcoholic classified as heavy consumers (>60g alcohol/day). For CA assay we have analysed 26 alcoholic and 22 healthy individuals as control group. For the polymorphism study, 124 alcoholic and 124 healthy individuals were genotyped using PCR and RFLP techniques. Non-smokers alcoholics showed higher mitotic index than nonsmokers controls (p=0,03). Acs frequencies in alcoholics were similar to controls. No risk associations were found between null genotypes for GSTM1 and GSTT1 genes and mutant genotypes for CYP2D6 and CYP2E1 genes and the occurrence of cirrhosis or pancreatic disease. Homozygous mutant for CYP1A1 gene (m2/m2) presented significant risk to development of cirrhosis or pancreatic disease in alcoholic. No significant frequencies were found in the occurrence of A1 allele in alcoholic.

Fan Chung-sze. / Thesis (M.Phil.)--Chinese University of Hong Kong, 1999. / Includes bibliographical references. / Abstracts in English and Chinese. / Acknowledgements --- p.i / Abstract --- p.ii / List of Tables --- p.vii / List of Figures --- p.viii / List of Abbreviations --- p.x / Table of Contents --- p.xi / Chapter Chapter 1 --- Introduction / Chapter 1.1 --- Nasopharyngeal Carcinoma --- p.1-1 / Chapter 1.1.1 --- Histology of NPC --- p.1-1 / Chapter 1.1.2 --- Etiological Factors --- p.1-2 / Chapter 1.1.3 --- Genetic Changes in NPC --- p.1-5 / Chapter 1.2 --- Background of Present Study --- p.1-14 / Chapter 1.3 --- Aims of Study --- p.1-15 / Chapter Chapter 2 --- Comparative Genomic Hybridization and Fluorescence In- Situ Hybridization / Chapter 2.1 --- Introduction --- p.2-1 / Chapter 2.2 --- Fluorescence In-Situ Hybridization (FISH) --- p.2-2 / Chapter 2.2.1 --- Principle of FISH --- p.2-2 / Chapter 2.2.2 --- Applications of FISH --- p.2-2 / Chapter 2.2.3 --- Advantages and Limitations --- p.2-5 / Chapter 2.3 --- Comparative Genomic Hybridization (CGH) --- p.2-7 / Chapter 2.3.1 --- Principle of CGH --- p.2-7 / Chapter 2.3.2 --- Applications of CGH --- p.2-8 / Chapter 2.3.3 --- Advantages and Limitations --- p.2-10 / Chapter 2.4 --- Method of CGH --- p.2-13 / Chapter 2.4.1 --- CGH Probe Preparation --- p.2-13 / Chapter 2.4.2 --- CGH Template Preparation --- p.2-21 / Chapter 2.4.3 --- Hybridization --- p.2-23 / Chapter 2.4.4 --- Post-hybridization --- p.2-23 / Chapter 2.4.5 --- Fluorescence Detection --- p.2-24 / Chapter 2.4.6 --- Image Acquisition and Analysis --- p.2-24 / Chapter 2.5 --- Method of Interphase FISH --- p.2-29 / Chapter 2.5.1 --- FISH Probe Preparation --- p.2-29 / Chapter 2.5.2 --- FISH Template Preparation --- p.2-29 / Chapter 2.5.3 --- Hybridization --- p.2-30 / Chapter 2.5.4 --- Post-hybridization --- p.2-30 / Chapter 2.5.5 --- Fluorescence Detection --- p.2-30 / Chapter 2.5.6 --- Scoring of FISH Signals --- p.2-31 / Chapter 2.5.7 --- Threshold Determination --- p.2-31 / Chapter Chapter 3 --- FISH Studies on NPC Biopsies Guided by CGH Information Derived from Cell Lines and Xenografts / Chapter 3.1 --- Introduction --- p.3-1 / Chapter 3.2 --- Materials and Methods --- p.3-3 / Chapter 3.2.1 --- CGH Analysis --- p.3-3 / Chapter 3.2.2 --- Interphase FISH Analysis --- p.3-4 / Chapter 3.2.3 --- Statistical Analysis --- p.3-7 / Chapter 3.3 --- Results / Chapter 3.3.1 --- CGH --- p.3-9 / Chapter 3.3.2 --- Interphase FISH Analysis --- p.3-10 / Chapter 3.3.3 --- Statistical Analysis --- p.3-11 / Chapter 3.4 --- Discussion --- p.3-27 / Chapter 3.4.1 --- CGH --- p.3-27 / Chapter 3.4.2 --- Interphase FISH Analysis --- p.3-31 / Chapter 3.5 --- Summary of This Chapter --- p.3-36 / Chapter Chapter 4 --- CGH Studies on Universally Amplified DNA from Microdissected NPC Biopsies and Interphase FISH Analysis / Chapter 4.1 --- Introduction --- p.4-1 / Chapter 4.2 --- Materials and Methods --- p.4-4 / Chapter 4.2.1 --- CGH on Universally Amplified DNA --- p.4-4 / Chapter 4.2.2 --- Interphase FISH Analysis --- p.4-6 / Chapter 4.2.3 --- Statistical Analysis --- p.4-8 / Chapter 4.3 --- Results --- p.4-9 / Chapter 4.3.1 --- CGH on Universally Amplified DNA --- p.4-9 / Chapter 4.3.2 --- Interphase FISH Analysis --- p.4-10 / Chapter 4.3.3 --- Statistical Analysis --- p.4-11 / Chapter 4.3.4 --- Comparison of CGH and FISH Findings --- p.4-11 / Chapter 4.4 --- Discussions --- p.4-30 / Chapter 4.4.1 --- CGH Findings --- p.4-30 / Chapter 4.4.2 --- Interphase FISH Analysis --- p.4-41 / Chapter 4.4.3 --- Comparison of CGH and FISH Findings --- p.4-43 / Chapter 4.5 --- Summary of This Chapter --- p.4-45 / Chapter Chapter 5 --- Conclusion and Further Studies / Chapter 5.1 --- Conclusion --- p.5-1 / Chapter 5.2 --- Further Studies --- p.5-3 / Chapter 5.2.1 --- Combination of Microdissection --- p.5-3 / Chapter 5.2.2 --- Multicolor Karyotyping --- p.5-3 / Chapter 5.2.3 --- Microarrays --- p.5-4 / References --- p.R-1

by Angela Bik-Yu Hui. / Thesis (M.Phil.)--Chinese University of Hong Kong, 1997. / Includes bibliographical references (leaves 119-133). / Acknowledgements / Table of Contents / List of Tables / List of Figures / Abstract / Chapter CHAPTER 1 --- LITERATURE REVIEW --- p.1 / Chapter I. --- Nasopharyngeal carcinoma --- p.1 / Chapter II. --- Etiology of NPC --- p.3 / Chapter II a. --- Geographical & Environmental factors --- p.3 / Chapter II b. --- Epstein-Barr virus Infection --- p.5 / Chapter II c. --- Genetic Factors --- p.8 / Chapter III. --- Cytogenetic Studies of NPC --- p.10 / Chapter III a. --- Traditional Cytogenetics --- p.10 / Chapter III b. --- Previous cytogenetic findings of NPC --- p.12 / Chapter III.c. --- Fluorescence in-situ hybridization --- p.15 / Chapter III.d. --- The new NPC cell line: Cell-666 --- p.18 / Chapter IV. --- Molecular Genetic Studies in NPC --- p.19 / Chapter IV a. --- Oncogenes --- p.20 / Chapter IV b. --- Tumor suppresser genes (TSGs) --- p.22 / Chapter IV c. --- Loss of Heterozygosity Studies --- p.29 / Chapter IV d. --- LOH on Chromosome 11 --- p.32 / Chapter IV e. --- ATM Gene --- p.35 / Chapter CHAPTER 2 --- OBJECTIVE OF STUDY --- p.38 / Chapter CHAPTER 3 --- MATERIALS AND METHODS --- p.41 / Chapter I： --- Study of loss of heterozygosity on chromosome 11 --- p.41 / Chapter I a. --- Patients and Specimens --- p.41 / Chapter I.b. --- DNA extraction --- p.45 / Chapter I c. --- Microsatellite Polymorphism Analysis --- p.47 / Chapter I d. --- Multiplex PCR analysis --- p.52 / Chapter II. --- Cytogenetic Studies --- p.54 / Chapter II a. --- Culture of cell-666 --- p.54 / Chapter II b. --- Cytogenetic Analysis --- p.56 / Chapter II c. --- Fluorescence in-situ hybridization (FISH) --- p.58 / Chapter II d. --- FISH analysis of other NPC cell lines) --- p.62 / Chapter CHAPTER 4 --- RESULTS --- p.63 / Chapter I: --- Study of loss of heterozygosity on chromosome 11 --- p.63 / Chapter I a. --- LOH analysis --- p.63 / Chapter I b. --- Regions with L OH --- p.73 / Chapter I c. --- Multiplex PCR analysis --- p.79 / Chapter II: --- Cytogenetic Study --- p.83 / Chapter II a. --- Cytogenetic analysis of cell-666 --- p.83 / Chapter II.b. --- Fluorescence in-situ Hybridization (FISH) --- p.91 / Chapter CHAPTER 5 --- DTSCUSSION --- p.102 / Chapter I. --- LOH of Chromosome 11 Studies --- p.102 / Chapter II. --- Comparison with LOH studies of other chromosomes --- p.110 / Chapter III. --- Cytogenetic Studies --- p.113 / REFERENCES --- p.119

Purpose: To study ???on??? and ???off-axis??? wavefront aberration of eyes of children and to determine the relationship with refractive error development. Methods: On and off-axis ocular aberrations of cyclopleged eyes of children (mostly 12 year olds) were measured and compared to data obtained from a group of mostly 6 year old children. Only data from the right eyes were analysed (pupil diameter=5 mm) and categorised into refractive error groups based on ???M???. Differences in ???on??? and ???off-axis??? aberrations between refractive and ethnic groups were analysed using univariate and multivariate analyses of variance with adjustment for multiple comparisons. Off-axis refraction was analysed using skiagrams and mean relative spherical equivalent. Results: Data from 1,636 12 year old children (mean age 12.6 ?? 0.4 years) was analysed. Lower order aberrations were the largest and higher order aberrations contributed to only 25% of the wavefront. There were no differences in the amount of total higher orders between refractive groups. Of the individual higher orders, spherical aberration was greater in hyperopic eyes (0.07 ?? 0.06 ??m) in comparison to emmetropic and myopic eyes (0.05 ?? 0.04 ??m and 0.05 ?? 0.04 ??m) (p<0.001). Myopic eyes had more positive values of Z(3,-1) (p<0.05). Similar results were obtained for the 1,364 6 year old children (mean age 6.7 ??? 0.4 years). Despite East Asian children being more myopic than other ethnic groups (p<0.01), there were no differences in higher orders except for low hyperopic East Asian eyes presenting with higher levels of positive spherical aberrations (p<0.001). When compared to the fovea, off-axis myopic eyes had hyperopia (0.55 to 1.66 D) and emmetropes and hyperopes had myopia (0.10 to -2.00 D). Astigmatism and defocus were the dominant off-axis aberrations. The magnitude of higher order aberrations (mostly 3rd orders) increased with eccentricity but was similar across refractive error groups. Conclusions: Myopic eyes do not have abnormal or excessive levels of on and off-axis higher order aberrations but had patterns of off-axis refraction that may be associated with progression. Considerable inter-subject variability in higher order aberrations was seen for all refractive groups. However, their magnitude was small and suggests that any impact on the optical quality of the eye is negligible.