Background Birth defects are a significant cause of neonatal mortality and morbidity globally. Environmental and genetic factors may be the risk factors for birth defects. Thus, this study aims to evaluate the association between the type of household cooking fuel and birth defects in Nepal, as well as investigate whether air ventilation usage had a modifying effect on the possible association. Methods This cross-sectional study used secondary data from Nepal Perinatal Quality Improvement Projectfrom 2017 to 2018. The study sample was 66,713 women with a newborn, whose information was available in hospital records and exit interviews. The association between cooking fuel type usage and birth defects was investigated with adjusted multivariable logistic regression. To investigate the air ventilation usage, a stratified multivariable logistic regression analysis was performed. Results This study found a significant association between cooking fuel type usage and birth defects. Mothers using polluted fuels had higher odds (aOR 1.48 [95% CI 1.15-1.90]) of having a child with a birth defect compared to mothers using clean fuels. Women not using air ventilation while cooking had even higher odds of having a child with birth defects (aOR 1.56 [95% CI 1.20-2.03]), whereas the association was not significant among women using air ventilation. Conclusion The usage of polluted cooking fuels is an important factor related to birth defects. Air ventilation in turn may be important in decreasing its effects. Hence, future studies and interventions are needed to reduce neonatal mortality and life-long morbidity.

No description available.

Orientador: Agnes Cristina Fett Conte / Banca: Roseli Maria Zechi Ceide / Banca: Luiz Carlos de Mattos / Resumo: Os defeitos congênitos resultam de causas genéticas e não genéticas, afetam cerca de 3 a 5% dos recém-nascidos e são reconhecidos como uma das maiores causas de morbidade e mortalidade no primeiro ano de vida, além de serem a causa de muitas mortes embrionárias e fetais. Possuem etiologia e fatores de risco variados, muitos ainda desconhecidos. Dados epidemiológicos brasileiros são escassos. O estudo dos fatores epidemiológicos pode ampliar o conhecimento sobre tais defeitos e propiciar estratégias de prevenção, além do Aconselhamento Genético adequado para as famílias envolvidas. O presente trabalho realizou um estudo genético clínico prospectivo de todos os recém-nascidos e natimortos com defeitos congênitos atendidos no período de um ano no Hospital de Base de São José do Rio Preto/SP (HB), com o objetivo de estimar a prevalência, caracterizar em tipos de doenças, diagnósticos ou categorias diagnósticas, verificar as possíveis causas e consequências dos defeitos. Para cada criança foi realizada a análise cariotípica (nos casos indicados), a avaliação física, o registro fotográfico, análise de dados de prontuário médico e coleta de informações complementares com a família. Foram estudados 110 indivíduos, 103 recém-nascidos e sete natimortos. A prevalência foi de 2,8%. Em 82% dos casos o diagnóstico específico pode ser sugerido. Os defeitos congênitos de etiologia genética foram mais frequentes que os de etiologia não genética. Os de herança multifatorial foram os mais freqüentes (29%), seguidos dos de etiologia heterogênea (22%), monogênica (19%), desconhecida (13,5%), cromossômica (12%) e ambiental (4,5%). A idade materna, a consangüinidade parental e a predisposição familial (presença de defeitos congênitos na família) foram alguns fatores de risco identificados. A maioria dos afetados eram prematuros e a hospitalização... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: Birth defects, resulting from genetic and non-genetic causes, affect about 3 to 5% of newborns and are recognized as a major cause of morbidity and mortality within the first year of life, as well as being the cause of many embryonic and fetal deaths. Not infrequently the varied etiology and risk factors remain unknown. Brazilian epidemiological data are scarce. The study of epidemiological factors may increase knowledge about these defects and make prevention strategies and genetic counseling possible for affected families. This work constitutes a prospective clinical genetic study of all newborn and stillborn infants with birth defects seen over one year in Hospital de Base in São José do Rio Preto, Sao Paulo, in order to estimate the prevalence, characterize the disease types, diagnoses or diagnostic categories and evaluate possible causes and consequences of the defects. Karyotypic analysis, a physical assessment, photographic records, an analysis of the patients' medical records and the collection of additional information with the family was performed for each infant. The study assessed 103 newborn and 7 stillborn subjects. The prevalence of birth defects was of 2.8%. A specific diagnosis was suggested in 82% of cases. Genetically-related birth defects were more prevalent than those with non-genetic etiology. Infants with multifactorial inheritance patterns were the most common (29%), followed by heterogeneous etiology (22%), monogenic inheritance patterns (19%), unknown (13,5%), chromosomal etiologies (12%) and environmental factors (4.5%). Maternal age, parental consanguinity and family susceptibility (the presence of defects in the family) were some of the identified risk factors. Most affected infants were premature and the most commonly observed consequences were prolonged hospital stays and death. Hence, birth defects are frequent in the population; several causes are... (Complete abstract click electronic access below) / Mestre

Neural tube defects (NTDs) are serious birth defects that affect 3,000 pregnancies in the United States annually. All women of childbearing age are recommended to consume 400 micrograms of folic acid daily for the prevention of NTDs. Women aged 18 to 24 years have multiple risk factors for having an NTD-affected pregnancy and should be targeted by efforts to promote folic acid consumption. Survey data capturing folic acid awareness, knowledge, and supplementation behavior of women aged 18 to 24 years who are not contemplating pregnancy were examined to identify the relationship of folic acid awareness and knowledge to daily supplementation with folic acid in an effort to predict the effectiveness of education-only interventions. Results of the study suggested that awareness and knowledge was not consistently related to daily supplementation. An evaluation of qualitative data using the Health Belief Model offers explanations for the findings and recommendations for targeting these at-risk women.

Made available in DSpace on 2014-06-11T19:26:04Z (GMT). No. of bitstreams: 0 Previous issue date: 2010-02-26Bitstream added on 2014-06-13T19:53:57Z : No. of bitstreams: 1 oliveira_cif_me_sjrp.pdf: 1431703 bytes, checksum: 19bdfb08ccbb18b978cdc957759cb23d (MD5) / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) / Os defeitos congênitos resultam de causas genéticas e não genéticas, afetam cerca de 3 a 5% dos recém-nascidos e são reconhecidos como uma das maiores causas de morbidade e mortalidade no primeiro ano de vida, além de serem a causa de muitas mortes embrionárias e fetais. Possuem etiologia e fatores de risco variados, muitos ainda desconhecidos. Dados epidemiológicos brasileiros são escassos. O estudo dos fatores epidemiológicos pode ampliar o conhecimento sobre tais defeitos e propiciar estratégias de prevenção, além do Aconselhamento Genético adequado para as famílias envolvidas. O presente trabalho realizou um estudo genético clínico prospectivo de todos os recém-nascidos e natimortos com defeitos congênitos atendidos no período de um ano no Hospital de Base de São José do Rio Preto/SP (HB), com o objetivo de estimar a prevalência, caracterizar em tipos de doenças, diagnósticos ou categorias diagnósticas, verificar as possíveis causas e consequências dos defeitos. Para cada criança foi realizada a análise cariotípica (nos casos indicados), a avaliação física, o registro fotográfico, análise de dados de prontuário médico e coleta de informações complementares com a família. Foram estudados 110 indivíduos, 103 recém-nascidos e sete natimortos. A prevalência foi de 2,8%. Em 82% dos casos o diagnóstico específico pode ser sugerido. Os defeitos congênitos de etiologia genética foram mais frequentes que os de etiologia não genética. Os de herança multifatorial foram os mais freqüentes (29%), seguidos dos de etiologia heterogênea (22%), monogênica (19%), desconhecida (13,5%), cromossômica (12%) e ambiental (4,5%). A idade materna, a consangüinidade parental e a predisposição familial (presença de defeitos congênitos na família) foram alguns fatores de risco identificados. A maioria dos afetados eram prematuros e a hospitalização... / Birth defects, resulting from genetic and non-genetic causes, affect about 3 to 5% of newborns and are recognized as a major cause of morbidity and mortality within the first year of life, as well as being the cause of many embryonic and fetal deaths. Not infrequently the varied etiology and risk factors remain unknown. Brazilian epidemiological data are scarce. The study of epidemiological factors may increase knowledge about these defects and make prevention strategies and genetic counseling possible for affected families. This work constitutes a prospective clinical genetic study of all newborn and stillborn infants with birth defects seen over one year in Hospital de Base in São José do Rio Preto, Sao Paulo, in order to estimate the prevalence, characterize the disease types, diagnoses or diagnostic categories and evaluate possible causes and consequences of the defects. Karyotypic analysis, a physical assessment, photographic records, an analysis of the patients’ medical records and the collection of additional information with the family was performed for each infant. The study assessed 103 newborn and 7 stillborn subjects. The prevalence of birth defects was of 2.8%. A specific diagnosis was suggested in 82% of cases. Genetically-related birth defects were more prevalent than those with non-genetic etiology. Infants with multifactorial inheritance patterns were the most common (29%), followed by heterogeneous etiology (22%), monogenic inheritance patterns (19%), unknown (13,5%), chromosomal etiologies (12%) and environmental factors (4.5%). Maternal age, parental consanguinity and family susceptibility (the presence of defects in the family) were some of the identified risk factors. Most affected infants were premature and the most commonly observed consequences were prolonged hospital stays and death. Hence, birth defects are frequent in the population; several causes are... (Complete abstract click electronic access below)

No description available.

Indiana University-Purdue University Indianapolis (IUPUI) / Consistent under-reporting of autism cases by Indiana physicians to the Indiana Birth Defects and Problems Registry (IBDPR) has made quality autism-related data very difficult to obtain (Indiana Birth Defects and Problems Registry [IBDPR], 2011). As a result, the Indiana State Department of Health (ISDH) currently also utilizes data from billing information that it receives from hospital discharges. However, such cases must be investigated further because autism is often merely suspected as a possibility in the discharge data. A chart auditor must therefore review the child’s chart to determine if the condition is confirmed. Meanwhile, the Indiana Department of Education (IDOE) has a different diagnostic procedure from physicians for determining whether a student has an Autism Spectrum Disorder (ASD), which qualifies him or her for special education. A physician diagnosis of autism does not guarantee that a child will receive special education from public schools. With all of these current complications surrounding autism, announced changes in the definition of autism by the American Psychiatric Association (APA) will likely have effects on both the special education field and the public health field. There is a possibility that children who had previously received special education could cease to maintain their eligibility and may find it difficult to obtain benefits. The IDOE may find it necessary to reevaluate their criteria for determining special education eligibility. Additionally, public health officials may see the definition changes affect the number of autism cases they perceive their populations to have, thus impacting community and policy decisions. This study was performed as an attempt to investigate and compare the sources used by the IBDPR to obtain autism data, and determine whether or not the resulting data creates an accurate depiction of the autistic population of Indiana. It was also performed to speculate whether a stricter definition of autism will result in a higher quality of data for the IBDPR and a more consistent view on the disorder between the ISDH and the IDOE. Perhaps from such consistency and simpler definitions, future recorded data will more closely resemble that of reality, enabling the ISDH to utilize the IBDPR to its full extent. Using current definitions for an exploratory analysis of data from the past five years, a discrepancy clearly exists between the IBDPR and the reality of the population of Indiana.

The aims were to investigate the accuracy of ultrasound in diagnosis of structural fetal anomalies with special focus on false positive findings (I), to evaluate the additional value of second trimester fetal MRI on pregnancy management (II-III) and to estimate the ascertainment in the Swedish Birth Defects Registry and incidence of spina bifida and cleft lip/palate (IV). Retrospectively, 328 fetal autopsies were identified where pregnancies were terminated due to ultrasonographically diagnosed fetal anomalies. In 175 (53.4 %) cases ultrasound and fetal autopsy were identical, in 124 (37.8 %) ultrasound was almost correct, in 23 (7.0 %)  ultrasound diagnoses could not be verified, but fetal autopsy showed other anomalies with at least the same prognostic value and in six (1.8 %)  ultrasound diagnosis could not be verified and autopsy showed no or less severe anomalies (I). Prospectively, 29 pregnancies with CNS- (II) and 63 with non-CNS-anomalies (III) were included. In the CNS study MRI provided no additional information in 18 fetuses (62 %), additional information without changing the management in 8 (28 %) and additional information altering the pregnancy management in 3 (10%). In the non-CNS study the corresponding figures were 43 (68 %), 17 (27 %) and three (5 %), respectively. MRI in the second trimester might be a clinically valuable adjunct to ultrasound for the evaluation of CNS anomalies, especially when the ultrasound is inconclusive due to maternal obesity (II) and in non-CNS anomalies in cases of diaphragmatic hernia or oligohydramnios (III). In newborns, the ascertainments of birth defects are relatively high and assessable, but in pregnancy terminations they are lower or unknown. The incidence of newborns with spina bifida has decreased because of an increased rate of pregnancy terminations (>60%). There is room for improvement concerning the reporting of anomalies from terminated pregnancies (IV).

[Truncated abstract] Veterinarians have considerable potential for exposure to several known reproductive hazards such as radiation, anaesthetic gases, pesticides, long working hours and occupational stress. Reproductive effects are a concern to female veterinarians, especially now that about 65% of graduates from Australian veterinary science schools are female. In the last two decades, there have been reports on the possible associations between occupational exposures and adverse reproductive outcomes in female veterinarians, but most of them have been equivocal and the whole area remains controversial. More evidence is needed before firm conclusions can be drawn. The Health Risks of Australian Veterinarians project (HRAV) was conducted as a questionnaire-based survey of all graduates from Australian veterinary schools during the 40-year period 1960-2000. Of 5,748 eligible veterinarians who were sent the questionnaires (73% of the whole cohort), 2,800 replied including 1,197 females (42.8%). Among women veterinarians eligible to participate, 59% participated . . . Identification of these associations may provide the opportunity for preventing harmful exposures and thus reduce the risk of any adverse reproductive outcomes not only for veterinarians, but also for other groups exposed to these risks such as veterinary nurses, animal laboratory technicians, anaesthetists, dentists, dental assistants, and other similar professional groups. The author of this thesis, having completely addressed the research objectives of her doctoral candidacy, has set out and acted on a future research agenda designed to explore the association between perceived occupational stress and pregnancy outcomes and infertility in Australian female veterinarians.

Made available in DSpace on 2011-05-04T12:42:02Z (GMT). No. of bitstreams: 0 Previous issue date: 2009 / Este estudo teve como objetivo avaliar a qualidade da informação sobre anomalias congênitas no Sistema de Informações sobre Nascidos Vivos em oito hospitais distribuídos em sete municípios do Brasil. Foi avaliada a cobertura, validade de critério e confiabilidade da codificação dos diagnósticos de anomalias congênitas em 2004 e, posteriormente, esta cobertura e validade foi comparada para o ano de 2007. Foram utilizados os bancos de dados do SINASC de 2004 e 2007 destes hospitais, consistindo de 27.945 e 25.905 nascidos vivos respectivamente. Para a validade de critério utilizou-se como padrão-ouro o ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) e para a análise deconfiabilidade um profissional capacitado do SINASC. Ademais, foram descritas as intervenções realizadas pelos hospitais e suas respectivas Secretarias Municipais de Saúde(SMS) e pelo Ministério da Saúde (MS) no mesmo período. Na análise de 2004, os resultados mostraram uma elevada sub notificação das anomalias congênitas, tanto de anomalias menores como de maiores, pelo SINASC, variando entre 33,5 por cento e 88,6 por cento. A sensibilidade variou de11,4 por cento a 66,5 por cento, a especificidade, valores preditivos positivo e negativo foram maiores que80 por cento. Observou-se uma elevada concordância entre os diagnósticos descritos na declaração de nascido vivo e no ECLAMC. A confiabilidade da codificação, calculada pelo índice kappa, variou de 0,61 a 1,00 para três dígitos da CID-10 e de 0,41 a 0,78 para quatro dígitos. Na comparação entre 2004 e 2007, observou-se a persistência da baixa cobertura em todos os hospitais, exceto por um, com sub notificação de pelo menos 40 por cento das anomalias congênitas. Além disso, verificou-se piora da notificação em dois hospitais. Intervenções foram realizadas em quatro hospitais e duas SMS. Foram realizados cursos de capacitação no diagnóstico e codificação das anomalias congênitas por uma SMS. Concluiu-se que a informação sobre anomalias congênitas no SINASC, tanto em 2004 como em 2007, apresentou baixa cobertura e validade de critério, restringindo o seu uso na determinação das prevalências destas condiçõesno Brasil. A confiabilidade da codificação, apesar de apresentar valores moderados, representauma limitação importante para os estudos epidemiológicos. Poucas intervenções estão sendo realizadas objetivando a melhora da qualidade das informações sobre anomalias congênitas. Com base nos resultados deste estudo recomendamos ações urgentes pelo MS e SMS para o preenchimento deste campo no SINASC, principalmente referente à capacitação dos profissionais, assim como avaliações periódicas da qualidade. / This study aimed to evaluate the birth defects data from the Brazilian birth certificate in eight hospitals distributed in seven municipalities. We evaluated the case ascertainment, criterion validity and coding reliability of birth defect cases in 2004, and afterwards, the case ascertainment and validity was compared to the year 2007. The birth certificate databases of these hospitals, from 2004 and 2007, were used, consisting of 27,945 e 25,905 live-births, respectively. For the criterion validity we used Latin-American Collaborative Study of Congenital Malformations (ECLAMC) as the gold-standard and for the reliability analysis a trained professional from the birth certificate information system. Besides, the interventions performed by the hospitals and the corresponding Municipal Departments of Health (MDOH) and the Ministry of Health (MOH), in the same period, were described. In the 2004 analysis, minor as well as major birth defects were underreported by the birth certificate, varying from 33.5% to 88.6%.The sensitivity varied from 11.4% to 66.5%, the specificity, positive and negative predictive values were all above 80%. We observed a high concordance between the birth defects diagnosis described in the birth certificate and ECLAMC. The coding reliability, calculated by kappa, varied from 0.61 to 1.00 for three digits- and from 0.41 to 0.78 for four digits of the ICD-10. In the comparison between 2004 and 2007, we observed a persistence of the low case ascertainment in all hospitals, except for one, with underreporting of at least 40% of the birth defects. In addition, we verified a significant decrease in reporting in two of the hospitals. Interventions were performed in four hospitals and two MDOHs. Training courses on birth defects diagnosis and coding were only realized by one MDOH. We concluded that the information on birth defects in the birth certificate, in 2004 as well as in 2007, presented low case ascertainment and criterion validity, restraining its use in the determination of the prevalence of these conditions in Brazil. The coding reliability, even if it presented moderate values, represents an important limitation for epidemiologic studies. Few interventions are being performed aiming the improvement of the birth defects information quality. Considering the results from this study, we recommend urgent initiatives by the MOH and MDOHs for the birth defects data in the birth certificate, especially regarding professional training, as well as periodic quality evaluations.