As fissuras orais integram dois grupos segundo origens etiológicas distintas, quais sejam, fissuras labiais ou lábio-palatais e fissuras palatais. Realizou-se um estudo tipo caso-controle, com 450 casos e 450 controles, sendo que, entre os casos, 354 eram portadores de fissura labial ou lábio-palatina e 96 de fissura palatina. A fim de se estudar a associação entre fissuras orais e possíveis fatores de risco, foram objeto de análise as variáveis: local de moradia da mãe nos quatro primeiros meses de gestação (urbana/rural), poluição, aplicação de pesticida e herbicida na lavoura, doenças nos pais, doenças na mãe nos quatro primeiros meses de gestação, ingestão medicamentosa nesse período, hereditariedade, tabagismo, consumo de bebida alcoólica e exposição a raio-X durante a gestação ou um ano antes. Foram estimados os riscos relativos , segundo cada variável, por ponto e por intervalo de 95 por cento de confiança. Empregou-se análise multivariada, adotando-se o procedimento de máxima verossimilhança incondicional, para cada tipo de fissura. As variáveis hereditariedade (RR = 4,96), epilepsia na mãe (RR = 2,39) e ingestão de anti-inflamatório (RR = 2,59) são fatores de risco para fissuras labiais ou lábio-palatais. As variáveis hereditariedade (RR = 2,82) e poluição (RR = 2,58) são fatores de risco para fissuras palatinas. / There are two groups of clefts which differ in their etiology, namely the group with cleft lip with or without cleft palate and the group of cleft palate isolated. This study refers to a case-central analysis, with 450 cases and 450 controls. Among the cases, 354 have cleft lip with or without cleft palate and 96 have cleft palate. In order to study the association between oral clefts and possible risk factors, the analised variables were: place of mother\'s residence (urban/rural); pollution, parents\'s diseases, mother\'s diseases during the first four months of pregnancy, intake of drugs related to this period, heredity, smoking habits, alcohol consumption and X-ray examinations during pregnancy or X-ray examinations prior to pregnancy. It was estimated the relative risks CRR), for each variable by point and by 95 per cent of confidente interval. It was applied multivariate analysis, for unconditional maximum likelihood procedure, according to each type of cleft. Related to cleft lip with or without cleft palate, the risk factors are heredity (CRR = 4,96), epilepsy in the mother (RR = 2,39) and drug intake as anti-inflammatory in the first four months of pregnancy (RR = 2,59). Related to cleft palate, the risk factors are heredity (RR = 2,82) and pollution (RR = 2,58).

As fissuras orais integram dois grupos segundo origens etiológicas distintas, quais sejam, fissuras labiais ou lábio-palatais e fissuras palatais. Realizou-se um estudo tipo caso-controle, com 450 casos e 450 controles, sendo que, entre os casos, 354 eram portadores de fissura labial ou lábio-palatina e 96 de fissura palatina. A fim de se estudar a associação entre fissuras orais e possíveis fatores de risco, foram objeto de análise as variáveis: local de moradia da mãe nos quatro primeiros meses de gestação (urbana/rural), poluição, aplicação de pesticida e herbicida na lavoura, doenças nos pais, doenças na mãe nos quatro primeiros meses de gestação, ingestão medicamentosa nesse período, hereditariedade, tabagismo, consumo de bebida alcoólica e exposição a raio-X durante a gestação ou um ano antes. Foram estimados os riscos relativos , segundo cada variável, por ponto e por intervalo de 95 por cento de confiança. Empregou-se análise multivariada, adotando-se o procedimento de máxima verossimilhança incondicional, para cada tipo de fissura. As variáveis hereditariedade (RR = 4,96), epilepsia na mãe (RR = 2,39) e ingestão de anti-inflamatório (RR = 2,59) são fatores de risco para fissuras labiais ou lábio-palatais. As variáveis hereditariedade (RR = 2,82) e poluição (RR = 2,58) são fatores de risco para fissuras palatinas. / There are two groups of clefts which differ in their etiology, namely the group with cleft lip with or without cleft palate and the group of cleft palate isolated. This study refers to a case-central analysis, with 450 cases and 450 controls. Among the cases, 354 have cleft lip with or without cleft palate and 96 have cleft palate. In order to study the association between oral clefts and possible risk factors, the analised variables were: place of mother\'s residence (urban/rural); pollution, parents\'s diseases, mother\'s diseases during the first four months of pregnancy, intake of drugs related to this period, heredity, smoking habits, alcohol consumption and X-ray examinations during pregnancy or X-ray examinations prior to pregnancy. It was estimated the relative risks CRR), for each variable by point and by 95 per cent of confidente interval. It was applied multivariate analysis, for unconditional maximum likelihood procedure, according to each type of cleft. Related to cleft lip with or without cleft palate, the risk factors are heredity (CRR = 4,96), epilepsy in the mother (RR = 2,39) and drug intake as anti-inflammatory in the first four months of pregnancy (RR = 2,59). Related to cleft palate, the risk factors are heredity (RR = 2,82) and pollution (RR = 2,58).

Cigarette smoke contains sufficient carbon monoxide to induce maternal and fetal hypoxia. Hypoxia is a known teratogen, and consequently maternal smoking has been the focus of many studies on adverse birth outcomes, including cleft lip and palate. Current literature of epidemiological studies on smoking and clefts suggests a modest but statistically significant increase in risk of clefting associated with maternal smoking. A biological condition that may also contribute to hypoxia is anemia. Data from the Utah Child and Family Health Study was used to assess the effects of hypoxia-inducing conditions, maternal smoking, anemia, and their interaction, on the risk of having a child with a cleft. Smoking during the first trimester and hemoglobin levels ofless than 12.0 g/dL were the defined risk exposures and logistic regression modeling was used to test the hypotheses. Smoking during the first trimester of pregnancy was associated with increased risk of clefting; however, anemia did not appear to be associated with clefting in this population, and there was also no apparent additional increase in risk for those mothers who both smoked and were anemic. Prospects for future studies include using populations that have higher rates of anemia and smoking to gain more statistical power, and using more sensitive measures of red blood cell health other than hemoglobin. From a public health perspective, evidence from this study would suggest that efforts to promote smoking cessation in women of child-bearing years is of considerable importance.

Made available in DSpace on 2016-05-02T13:54:43Z (GMT). No. of bitstreams: 1 Dissertacao completa MarceloReischaves.pdf: 170451 bytes, checksum: 9a30d68fc8fa67a4726688e7834fd8b0 (MD5) Previous issue date: 2006-08-25 / Coordenacao de Aperfeicoamento de Pessoal de Nïvel Superior / Clefts of the lip and/or palate account for 65% of all head and neck anomalies and can be isolated or associated with other features as part of syndromes The etiology and pathogenesis of the oral clefts particularly of the nonsyndromic origin remain poorly understood This is in part a reflection of the complexity and diversity of the molecular mechanisms involved during embryogenesis with both genetic and environmental factors playing an influential role The aim of the present study was to evaluate the occurrence of cleft lip and palate in newborns in Alfenas Minas Gerais The sample was composed by 22 cleft lip and palate patients born in Alfenas from 1986 up to 1998 (first six months) among 15,039 registered births Unilateral left cleft lip and lip-palate were more frequently found in males being the opposite in females It was also noted the highest prevalence of cleft lip-palate in males and the exclusive cleft palate in females New studies are required in other geographic areas in Brazil Van der Woude syndrome is a rare autosomal dominant disorder thought to occur with an incidence of approximately 1 in 60,000 live births and without gender predilection Van der Woude syndrome the most frequent form of syndromic clefting is characterized by the association of pits and/or sinuses of the lower lip and cleft lip and/or cleft palate This second part of this dissertation describes the clinical and genetic features of two large and unrelated families with Van der Woude syndrome in Brazil emphasizing the range of anomalies found within and between the families Van der Woude syndrome is transmitted by an autosomal dominant pattern with variable clinical expressivity high prevalence and equilibrated gender distribution Physicians should be aware of the variety of malformations which can be associated with Van der Woude syndrome Genetic counseling in Van der Woude syndrome affected families is important as a high percentage of descendants can have some kind of clefting / As fissuras de lábio e/ou palato perfazem cerca de 65% de todas as anomalias de cabeça e pescoço e podem ser encontradas de forma isolada ou associadas como parte de uma síndrome A etiologia e patogenia das fissuras orais particularmente as de origem não sindrômica são pouco compreendidas Isto devido em parte à complexidade e diversidade do mecanismo molecular envolvido na embriogênese e influenciadas por fatores tanto genético como ambiental O objetivo deste estudo foi avaliar a ocorrência de fissuras de lábio e/ou palato em recém-nascidos na cidade de Alfenas Minas Gerais A amostra foi composta de 22 pacientes portadores de FLP nascidos em Alfenas no período de 1986 a 1998 (primeiros seis meses) em que foram registrados cerca de 15.039 nascimentos As fissuras de lábio unilaterais e labiopalatais foram mais freqüentes no sexo masculino já no sexo feminino a freqüência das fissuras foram equivalentes Os resultados permitiram concluir que a distribuição das fissuras unilaterais de lábio e labiopalatais no sexo masculino tiveram maior freqüência no lado esquerdo e no sexo feminino no lado direito As fissuras bilaterais foram mais freqüentes que os demais tipos de fissuras (75%) A síndrome de Van der Woude é uma condição autossômica dominante rara que atinge um em cada 60,000 nascidos vivos independente do gênero É a forma mais freqüente de fissura sindrômica caracterizada pela presença de fissuras labiopalatais e fossetas no lábio inferior sendo comum a combinação de ambas as condições A segunda parte desta dissertação descreve os aspectos clínicos e genéticos de duas famílias com a síndrome de Van der Woude no Brasil enfatizando as variações da anomalia entre os familiares A síndrome de Van der Woude é transmitida pelo padrão autossômico dominante com expressão clínica variável alta prevalência e distribuição uniforme entre os gêneros No estudo foram observadas expressividade e prevalência variadas e grande distribuição da síndrome na população estudada