No description available.

A fissura labiopalatina (FL/P) é uma das malformações craniofaciais mais comuns em humanos, com variação epidemiológica nas diferentes populações. Possui diferentes apresentações clínicas, divergindo de acordo com a extensão e estruturas acometidas, podendo acometer somente o lábio ou lábio e palato em conjunto, uni ou bilateralmente, de maneira completa ou incompleta ou apenas o palato (FP) tanto completa como incompletamente. Podem fazer parte de um quadro sindrômico, recebendo a denominação de FL/P sindrômica ou acontecer como um fenótipo isolado, sendo chamada de FL/P isolada ou não sindrômica. Em relação a etiologia da FL/P não sindrômica, a literatura afirma ser multifatorial com a predisposição genética associada a fatores ambientais. Apesar de se apresentarem frequentemente associadas, a FL/P e FP não sindrômicas são consideradas etiologicamente e embriologicamente distintas. Objetivo: Aprofundar e ampliar o conhecimento das FP isoladas não sindrômicas, descrevendo o fenótipo principal (FP isolada) e seus subfenótipos clínicos, investigando o fator genético relacionado à recorrência por meio do histórico familial e buscando elucidar possível fatores ambientais envolvidos por meio do histórico gestacional. Material e métodos: Foram coletados dados de 165 prontuários médicos de pacientes com FP isolada não sindrômica matriculados no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo (HRAC-USP). Para a coleta desses dados foram analisados segmentos do prontuário referentes a atendimentos realizados no HRACUSP em diferentes setores. Resultados: Em 165 pacientes estudados, o sexo feminino foi o mais acometido com 106 casos (64,24%) encontrados. O tipo de FP predominante foi a incompleta correspondendo a 88,48% da amostra total, sendo dentre elas a fissura de palato duro parcial a mais prevalente. Em cinco casos não foi possível realizar a classificação nos grupos referentes ao tipo de fissura adotados, sendo necessária a criação de um grupo de classificação adicional. Recorrência familial positiva foi relatada em 28,47% de 144 casos em que havia informação, e na maioria das vezes havia apenas 1 outro familiar acometido. A média da idade das mães e dos pais no momento da concepção foi de 26,9 e 31,4 anos, respectivamente. A porcentagem de abortos anteriores foi de 11,95% dos 92 casos informados e a consanguinidade foi de 3,29% dos 91 casos informados. A intercorrência mais frequentemente relatada (25 em 154 casos informados) foi o uso de medicamentos, tais como, antibióticos, anti-hipertensivos e medicamentos que auxiliam na prevenção do parto prematuro. Conclusão: O fenótipo FP isolada possui variações quanto à extensão de cometimento, sendo que as fissuras incompletas foram as mais frequentes e o sexo feminino predominantemente acometido. Em relação ao histórico familial e gestacional os dados que mais chamaram atenção estão relacionados ao percentual de recorrência familial (28,47%) e o uso de medicação durante a gestação. / Cleft lip and palate (CL/P) is one of the most common craniofacial malformations in humans, with epidemiological variation in different populations. It has different clinical presentations that diverge according to the extension and affected structures, and may either affect the lip or lip and palate together, unilaterally or bilaterally, in a complete or incomplete way or just affect the palate (CP) completely or incompletely. CL/P can either be related to a syndrome, classified as syndromic CL/P or unrelated to a syndrome, occurring as an isolated phenotype, designated as isolated or nonsyndromic CL/P. Regarding the etiology of nonsyndromic CL/P, research indicates multifactorial causes with a genetic predisposition associated with environmental factors. Although it is often present in association, nonsyndromic CL/P and CP are considered embryologically and etiologically distinct. Objective: To deepen and broaden the knowledge of individual nonsyndromic CP, describing the main phenotype (isolated CP) and its clinical subphenotypes, investigating the genetic factors related to recurrence through family history and to elucidate possible environmental factors involving gestational history. Material and Methods: Data were collected from 165 medical patients records with isolated nonsyndromic CP enrolled at the Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo (HRAC-USP). For data collection, segments of the records pertaining to care provided by HRAC-USP in different sectors were analyzed. Results: In the 165 patients studied, females were the most affected with 106 cases (64.24%) found. The predominant type of CP was incomplete corresponding to 88.48% of the total sample, and among these incomplete CP, the clefts involving partial hard palate were the most prevalent. In five cases it was impossible to classify the type of cleft, and the creation of an additional classification group was required. Positive familial recurrence was reported in 28.47% of 144 cases where information was available and in most cases there was only one other affected family member. The average age of mothers and fathers at conception was 26.9 and 31.4 years respectively. The percentage of previous miscarriages was 11.95% of the 92 reported cases and consanguineous marriage was found in 3.29% of the 91 reported cases. The most frequently reported complication (25 in 154 reported cases) was the use of drugs such as antibiotics, antihypertensives drugs, and drugs used to prevent premature birth. Conclusion: The phenotype Isolated CP presents variations in the extent of involvement, and incomplete clefts were the most frequent, with females predominantly affected. Regarding family history and gestational data what calls more attention were the percentage of familial recurrence (28.47%) and the use of medication during pregnancy.

No description available.

Specifying a prior distribution for the large number of parameters in the linear statistical model is a difficult step in the Bayesian approach to the design and analysis of experiments. Here we address this difficulty by proposing the use of functional priors and then by working out important details for three and higher level experiments. One of the challenges presented by higher level experiments is that a factor can be either qualitative or quantitative. We propose appropriate correlation functions and coding schemes so that the prior distribution is simple and the results easily interpretable. The prior incorporates well known experimental design principles such as effect hierarchy and effect heredity, which helps to automatically resolve the aliasing problems experienced in fractional designs. The second part of the thesis focuses on the analysis of optimization experiments. Not uncommon are designed experiments with their primary purpose being to determine optimal settings for all of the factors in some predetermined set. Here we distinguish between the two concepts of statistical significance and practical significance. We perform estimation via an empirical Bayes data analysis methodology that has been detailed in the recent literature. But then propose an alternative to the usual next step in determining optimal factor level settings. Instead of implementing variable or model selection techniques, we propose an objective function that assists in our goal of finding the ideal settings for all factors over which we experimented. The usefulness of the new approach is illustrated through the analysis of some real experiments as well as simulation.

Thesis (PH. D.)--Columbia University, 1925. / Vita. Published also as Teachers College, Columbia University, Contributions to education, no. 186. eContent provider-neutral record in process. Description based on print version record. Bibliography: p. 64-65.

This dissertation attempts to trace hereditary motifs in the novels of Charles Dickens and to relate these motifs to broader concerns--specifically Dickens's depiction of the formation of the self, his understanding of history and of the role of time Towards this end, I offer an historical overview of scientific and popular thinking on heredity, and suggest how some of these notions were translated into Dickens's fiction. The discussion of hereditary themes in the novels falls into two broad categories--the private and the public. / In the first of these, I argue that Dickens tended to define positive moral qualities, such as goodness, as hereditable. At the same time, he was reluctant to portray negative characteristics, such as criminality or insanity as being amenable to hereditary transmission. This assumption of a moral basis to heredity had ramifications for Dickens's understanding of human nature which, in turn spill over into his depiction of the broader public issues associated with heredity--its relationship to class, to race, and to history. / The very last section of the thesis focuses on the Darwinian revolution. There I argue that Dickens's attitude towards the importance of hereditary endowment changed after the publication of Darwin's The Origin of Species in 1859. I suggest that Darwin's book prompted Dickens to rethink his earlier deterministic approach to the problem of human identity. After 1859, Dickens jettisons heredity entirely as a factor in the formation of the self and replaces it with environment and experience. The last novels displace the Dickensian metaphors of hidden kinship and universal connection--both of which are related to heredity--and put in their place, the thematics of dispersal and disintegration.

Thesis (Ph. D.)--University of Wisconsin--Madison, 1955. / Typescript. Vita. Title from PDF title page (viewed Nov. 6, 2008). Includes bibliographical references (p. 275-288). Online version of the print original.

Thesis (PH. D.)--Columbia University, 1925. / Vita. Published also as Teachers College, Columbia University, Contributions to education, no. 186. eContent provider-neutral record in process. Description based on print version record. Bibliography: p. 64-65.

Thesis (Ph. D.)--University of Wisconsin, 1915. / Without thesis note. "Bibliographie": p. 119-124.

Thesis (Ph. D.)--University of Wisconsin--Madison, 1955. / Typescript. Vita. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references (leaves 275-288).