Orofacial clefts (OFCs) are facial malformations that happen during early pregnancy and have a complex and heterogeneous etiology, involving both genetic and environmental risk factors. This project examined the association between maternal nutrition, folaterelated biomarkers, candidate genes involved in one-carbon metabolism (OCM), and OFCs in order to achieve more comprehensive knowledge of how nutrition and genetics influence OFC risk. First, the association between maternal periconceptional multivitamin (PCMV) use, maternal dietary patterns during the periconceptional period, and OFC risk was examined. This study showed that neither PCMV use nor healthy dietary pattern score alone was individually associated with OFC risk. However, the combination of PCMV use and a higher score reflecting the ideal Dietary Approach to Stop Hypertension diet was associated with 55% reduction in the risk of isolated OFCs, evidence that the prevention of OFCs may require attention to both PCMV use and improving maternal diets. Second, the association between maternal multivitamin use, folic acid supplemental intake, and measured blood folate levels in case mothers of OFC children and control mothers was examined. Mothers who had an OFC-affected pregnancy compared with control mothers had lower mean levels of plasma folate in both multivitamin users and non-users. At levels of folic acid intake >400µg/day, the difference in plasma folate between case mothers and control mothers narrowed, evidence that higher folate intake levels may be required for mothers with a history of OFC-affected pregnancy. The ability to utilize supplement folic acid might be modified by MTHFR C677T genotype. In mothers with 677CC genotype, both case and control mothers’ plasma folate concentrations responded to increased levels of folic acid supplemental intake, although case mothers’ plasma folate concentrations were always significantly lower than control mothers’ until folate supplemental intake reached 400µg. In mothers with 677CT genotype, control but not case mothers’ plasma folate concentrations responded to increased levels of folic acid supplemental intake. In mothers with 677TT genotype, case but not control mothers’ plasma folate concentrations responded to increased levels of folic acid supplemental intake. Lastly, variations in folate-related OCM genes were examined in association with risk of OFCs using GWAS data and the case-parent trio approach. Several genes in the OCM pathway were associated with isolated, non-syndromic OFCs with some through genetic effects alone but most through gene-environment interaction effects with maternal multivitamin supplementation during periconceptional period and maternal biomarker concentrations for OCM-related nutrients. These results emphasize the need to consider gene-environment interactions when searching for genes influencing isolated OFCs. Reduction in the prevalence of OFCs could have tremendous importance. The results of this dissertation may help identify factors important to OFCs etiology and in turn, provide valuable targets for preventive intervention. Children born with an OFC require medical care from birth until adulthood and encounter a higher mortality rate. The costs incurred from caring for children born with OFCs not only include the clinical care of many disciplines but also involve the emotional disturbance and social and employment exclusion for affected individuals. Reducing the risk of OFCs would lessen considerable financial and emotional burdens to families and societies.

Among Filipinos of lower SES 1/500 babies are born yearly with an orofacial cleft. This is one of the highest birth prevalence of orofacial clefting in the world. The main purpose of this study was to obtain contextual information prior to planning for community based health interventions in the Philippines regarding orofacial clefting. A descriptive ethnography was used to describe working class Filipinos' (including healthcare workers') current beliefs about the causes, prevention, and treatment of orofacial clefting, and vitamin taking practices during pregnancy. Modifications of Kleinman's explanatory models were made to include questions about people's general and personal beliefs about cause and prevention of cleft. Innovative methods were developed and used in field research and included an oral back translation method and double translation process. Filipinos reported the following explanations for cause of cleft inheritance, falls, cravings, environmental exposures, and God's will. Beliefs about prevention of cleft included limiting their number of children, being careful not to fall, and avoiding environmental exposures. Filipinos seek surgical repair as treatment for their cleft. Iron was the supplement women reported taking most often during pregnancy. Female participants reported that feeling better, cost of multivitamin, side effects, and bad smell and taste were reasons why they quit taking micronutrients before they had completed the recommended course. This study is the first to construct a Filipino explanatory model specifically for clefting. In constructing Filipino's explanatory model for clefting we found that people's general causal explanations for cleft were not always congruent with personal causal explanations, and people's causal explanations for cleft were not always congruent with their prevention explanations. Modifying Kleinman's explanatory models to include questions about general and personal explanations for cause of illness and questions about prevention should be used to educe a more complete explanatory model. Results from this research can be used to inform the design of health campaigns and/or possible vitamin trials. These campaigns could include but are not limited to developing information brochures and programs about the cause and prevention of clefting, or developing public health campaigns to promote the use of prenatal vitamins in women of childbearing age.

Orofacial clefts are a group of congenital craniofacial deformities characterized by structural defects within and around the oral cavity. While some orofacial clefts are associated with an identifiable genetic or teratogenic syndrome, most are isolated or nonsyndromic. It has been well-documented that children born with nonsyndromic cleft lip and/or palate (NCL/P) are at-risk for poorer academic outcomes, especially within reading. Research into the cognitive functioning of patients with NCL/P has demonstrated that auditory-verbal memory and rapid naming are significant neuropsychological predictors of their lower reading achievement. Despite a solid compendium of research into the reading outcomes of those affected by NCL/P, very little research into the mathematical skills of this population exists. The current study examined whether the arithmetical computation skills of children, adolescents, and young adults with NCL/P differ significantly from healthy control participants. Comparisons of potential neuropsychological predictors of arithmetical computation were also conducted to determine whether these variables differ significantly for participants with NCL/P. Given the influence of language on both reading and mathematics and clear evidence of language impairments in individuals with NCL/P, it was hypothesized that arithmetical computation would be significantly lower for the NCL/P group. It was also hypothesized that the neuropsychological variables associated with lowered reading in NCL/P would be the strongest predictors of arithmetical computation. Results confirmed that arithmetical computation was significantly lower for the NCL/P group. Sustained attention, visual-spatial organization, auditory-verbal memory and rapid naming were significant predictors for the NCL/P group; rapid naming was the lone variable that was significantly more predictive of arithmetical computation for the NCL/P group than for control participants. These results suggest that inefficient verbal label retrieval related to short-term memory deficits underlie the computational difficulties of individuals with NCL/P. These findings have implications for approaches to remediation, as well as future research.

No description available.

This study investigates the syntactic structures and informational properties of English it-cleft and Chinese shi....(de) structure in the English novel The Fellowship of the Ring and its Chinese translation Å]§Ù­º³¡¦±. In previous studies, Chinese shi...(de) structure is generally regarded as a cleft sentence, and is equivalent to English it-cleft. However, in the present study, examination of it-cleft in the English novel and its Chinese shi...(de) translation supports the observation that Chinese shi...(de) structure is not equivalent to English it-cleft, but should be treated as a predicational sentence (Lambrechet 2008 and Shyu 2008). The data for analysis consist of 208 Chinese shi...(de) entries in the Chinese text and 48 English it-clefts in the English text. The results reveal that the Chinese translation contains a noticeably higher number of shi...(de) structures than the English text contains it-clefts, with the proportion of Chinese shi...(de) structures five times greater than English it-clefts (84.5% vs.19.5%). The discrepancy is ascribed to two reasons. First, Chinese shi...(de) structure is treated as a predicational sentence involving the three focus types: Predicate Focus (PF), Sentence Focus (SF), and Argument Focus (IF) (Lambrecht 1994, 2001). Second, English interrogative construction tends to be translated to Chinese shi...(de) structure. Another issue concerns how the four informational properties account for the differences between English it-cleft and Chinese shi...(de) sentence: the stress-focused cleft, the informative presupposition cleft, the discontinuous cleft, and the emphatic cleft. It is observed that these four functional properties can be comparable with Lambrecht¡¦s three focus types, and that they can be used to determine the real focus in the scope of shi...(de), without concerning ambiguous problems among subject focus, sentence focus and adjunct focus.

Thesis (M. Med. Sc.)--University of Hong Kong, 2001. / Includes bibliographical references (leaves 71-84).

Thesis (Ph. D.)--University of Missouri--Columbia, 2000. / Typescript. Vita. Includes bibliographical references (leaves 90-104). Also available on the Internet.

Die vorliegende Arbeit befasst sich mit der dreidimensionalen Untersuchung und Beschreibung der Oberkiefermorphologie von isolierten Gaumenspalten im ersten Lebensjahr. Hierzu wurden Oberkieferabformungen von nicht-syndromalen isolierten Gaumenspalten und Säuglingen mit Pierre-Robin-Sequenz bis zum operativen Gaumenspaltverschluss miteinander verglichen. Zusätzlich erfolgte die Gegenüberstellung einer gesunden Kontrollgruppe. Bei den Robin-Patienten waren eine signifikant vergrößerte anteriore Zahnbogenlänge, sowie eine verstärkte posteriore Zahnbogenbreite nachweisbar. Im Vergleich zu dieser tendenziell parabelförmigen Zahnbogenform, wiesen die isolierten Gaumenspalten einen eher u-förmigen Zahnbogen auf. Setzt man die Ergebnisse aus den Untersuchungsgruppen ins Verhältnis zur Zahnbogenform eines gesunden Säuglings, ergeben sich teilweise ganz andere Tendenzen. Die untersuchten Säuglinge weisen gegenüber der gesunden Population im gesamten ersten Lebensjahr eine signifikant verbreiterte posteriore Zahnbogenbreite auf. Zudem zeigen beide Gruppen im Vergleich zu der gesunden Kontrollgruppe ein deutliches Längendefizit im anterioren Bereich. Dieses Defizit führt zum Ende des ersten Lebensjahres zu einem zunehmenden Wachstumsrückstand der Gesamtzahnbogenlänge.

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

Thesis (M.S.)--University of Southern California, 1999. / eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references.