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No / Ester Garne and Joan Morris are correct that the Born in Bradford birth cohort data for congenital anomalies do not include pregnancies that terminated before 28 weeks: the data we report refer to liveborn and stillborn infants only. We reported a protective effect of education on anomaly rates but we did not propose any theory to account for the finding because we had no further data that related to this observation.

Cytomegalovirus (CMV) is a member of the Herpesviridae family and is known to infect people of all ages. In most cases, CMV infection is asymptomatic, and the virus is cleared from the host without showing any significant symptoms. However, 1 out of 200 babies are born with congenital CMV infection, which affects multiple organs, including the brain, liver, spleen, lung, and inner ear. One long-term health problem in 1 out 5 babies born with congenital CMV infection is hearing loss. The progression of CMV-associated hearing loss in the first two years of life may lead to developmental delays in language, learning, and communication. Currently, for serological testing of CMV in patients older than 12 months, real-time polymerase chain reaction (rtPCR) is used. Although the rtPCR method quantitatively detects the CMV, this method is expensive and needs highly skilled technicians to perform the assay. Therefore, there is a need for a cost-effective, simple, and rapid diagnostic tool that can help detect CMV in newborn babies and prevent CMV-mediated pathology in pediatric as well as in future adult conditions. In recent scientific studies, gold nanoparticles (AuNP) of 100 nm, 40 nm, and 15 nm sizes have shown promising results in detecting various viruses. In our study, we developed an AuNP-based colorimetric assay for detecting CMV in pediatric-derived urine samples. For comparison purposes, the pediatric urine samples were screened through quantitative PCR (qPCR) for positive and negative CMV determination. In our assay, we explored the ability of different-sized nanoparticles to detect CMV in pediatric urine samples. Using purified CMV virions as a positive control, we have shown that AuNP can effectively detect the presence of CMV in pediatric urine samples. Therefore, this colorimetric assay may be a basis for a useful diagnostic tool for detecting CMV in newborn babies. It is a rapid and non-invasive high-throughput assay for screening for the presence of CMV at the point of care and may help provide better therapeutic outcomes for pediatric patients.

This paper has been undertaken, first, to contribute several more cases of various congenital anomalies to the literature on human genetics, and, second, by an analysis of the genealogies, to determine the possible modes of transmission of these anomalies.

Lui Yat Chi. / Publication date from spine. / Thesis (M.Phil.)--Chinese University of Hong Kong, 1995. / Includes bibliographical references (leaves 93-103). / Acknowledgment --- p.1 / Abstract --- p.2 / Chapter Chapter 1 --- Introduction --- p.3 / Chapter 1.1 --- Background --- p.3 / Chapter 1.2 --- Review of previous epidemiological studies of congenital abnormalities --- p.3 / Chapter 1.2.1 --- Limitation in comparing data with different studies --- p.4 / Chapter 1.3 --- Objectives --- p.4 / Chapter Chapter 2 --- Definition --- p.7 / Chapter 2.1 --- Terminology and definition --- p.7 / Chapter 2.1.1 --- The definition of clinical abnormality --- p.9 / Chapter 2.1.2 --- The current concepts in major and minor anomalies --- p.10 / Chapter 2.1.3 --- The definition of major and minor anomalies --- p.10 / Chapter 2.2 --- Major anomalies and minor anomalies --- p.11 / Chapter Chapter 3 --- Subjects and Methodology --- p.16 / Chapter 3.1 --- The introduction of methodology --- p.16 / Chapter 3.1.1 --- Background --- p.16 / Chapter 3.1.2 --- Different Methodologies and their limitations --- p.16 / Chapter 3.2 --- Methods --- p.17 / Chapter 3.2.1 --- Setting --- p.17 / Chapter 3.2.2 --- Design of the research data recording sheet --- p.18 / Chapter 3.2.3 --- Training --- p.18 / Chapter 3.2.3.1 --- "Training in paediatrics, orthopaedic and clinical genetic centre" --- p.18 / Chapter 3.2.3.2 --- End of training period --- p.19 / Chapter 3.2.4 --- Data Collection --- p.19 / Chapter 3.2.4.1 --- Subject selection --- p.19 / Chapter 3.2.4.2 --- Examination Procedures --- p.20 / Chapter 3.2.4.3 --- Cross checking of the examination --- p.25 / Chapter 3.2.4.4 --- Other sources of information --- p.25 / Chapter 3.3 --- Problems in screening --- p.26 / Chapter 3.4 --- Selection of variables --- p.26 / Chapter 3.5 --- Statistical analysis --- p.27 / Chapter Chapter 4 --- Results --- p.28 / Chapter 4.1 --- Sub-Classification of the newborn infants --- p.28 / Chapter 4.2 --- Weights and Measures --- p.29 / Chapter 4.2.1 --- Result --- p.29 / Chapter 4.2.2 --- Supplement (statistical analysis of Table 4， 5 & 6) --- p.30 / Chapter 4.3 --- The incidence of congenital abnormalities in Newborn Chinese --- p.31 / Chapter 4.4 --- Relationship between incidence of abnormalities and sex --- p.47 / Chapter 4.4.1 --- Result --- p.47 / Chapter 4.5 --- Relationship between incidence of abnormalities and maternal age --- p.53 / Chapter 4.5.1 --- Result --- p.53 / Chapter 4.5.2 --- Supplement (statistical analysis of Table 19) --- p.54 / Chapter 4.5.3 --- Supplement (statistical analysis of Table 21 & 22) --- p.56 / Chapter 4.6 --- Relationship between incidence of abnormalities and parity --- p.58 / Chapter 4.6.1 --- Result --- p.58 / Chapter 4.7 --- Relationship between incidence of abnormalities and mode of delivery --- p.59 / Chapter 4.7.1 --- Result --- p.59 / Chapter 4.7.2 --- Supplement (statistical analysis of Table 23 & 24) --- p.59 / Chapter 4.8 --- Other correlations --- p.62 / Chapter 4.8.1 --- Relationship between incidence of abnormalities and mode of delivery --- p.62 / Chapter 4.8.2 --- Supplement (statistical analysis of Table 25 & 26) --- p.63 / Chapter Chapter 5 --- Discussion --- p.65 / Chapter 5.1 --- Comparative prevalence of congenital anomalies among different studies --- p.65 / Chapter 5.2 --- Comparison of incidence of specific major abnormalities in different survey --- p.68 / Chapter 5.3 --- Relationship between abnormalities and different factors --- p.70 / Chapter 5.3.1 --- Maternal age --- p.70 / Chapter 5.3.2 --- Parity --- p.71 / Chapter 5.3.3 --- Mode of delivery --- p.72 / Chapter 5.4 --- Other correlations --- p.72 / Chapter 5.5 --- The prevalence of birth defects among different systems in this survey --- p.72 / Chapter 5.5.1 --- Central nervous system --- p.72 / Chapter 5.5.2 --- Cardiovascular system --- p.76 / Chapter 5.5.3 --- Alimentary system --- p.79 / Chapter 5.5.4 --- Musculoskeletal system --- p.81 / Chapter 5.5.4.1 --- Supplement (statistical analysis of Table Y) --- p.82 / Chapter 5.5.5 --- Multiple syndrome --- p.86 / Chapter Chapter 6 --- Conclusion --- p.89 / Chapter 6.1 --- Limitations and Benefits --- p.90 / Chapter 6.2 --- Future direction --- p.92 / References --- p.93 / Appendix --- p.104

Orientador: Renato Passini Junior / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-11-09T15:30:07Z (GMT). No. of bitstreams: 1 Jannini_AlexandreWolf_M.pdf: 3134011 bytes, checksum: 9cae7dc9e2202285b4be1b0a5ae92bb0 (MD5) Previous issue date: 2008 / Resumo: Introdução: A legislação não permite a interrupção da gestação em casos de malformações fetais incompatíveis com a vida extra-uterina, cabendo ao Poder Judiciário decidir quando há uma solicitação deste tipo. Objetivos: Investigar a opinião de Magistrados e membros do Ministério Público sobre o abortamento nos casos de malformações fetais incompatíveis com a vida extra-uterina, especialmente em relação à anencefalia. Método: Análise parcial de dados obtidos em duas pesquisas realizadas pelo Centro de Pesquisas em Saúde Reprodutiva de Campinas (CEMICAMP), que objetivaram estudar a opinião destes profissionais acerca do aborto induzido. Foram obtidos dados de 1493 Magistrados e 2614 Promotores de Justiça. Foi constituído um banco de dados com as informações de interesse das pesquisas originais, analisado com auxílio do programa estatístico SAS versão 9.02, envolvendo análise bivariada e múltipla, por regressão logística. Resultados: Para 78,5% dos Magistrados e 82,6% dos membros do Ministério Público, a interrupção da gestação deveria ser permitida nos casos de qualquer malformação fetal incompatível com a vida extra-uterina. Em casos de diagnóstico de anencefalia, estes valores foram de 79,2% e 84,1%, respectivamente. Na análise multivariada, as variáveis associadas à opinião dos pesquisados foram a religiosidade, importância da religião e das concepções religiosas pessoais sobre as respostas dadas, experiência de gravidez indesejada que resultou em aborto, sexo, estado marital e o fato de possuir filhos. Conclusões: A grande maioria dos Magistrados e membros do Ministério Público foi favorável ao abortamento nas hipóteses estudadas, sendo as variáveis ligadas à religião as que mais influenciaram seu posicionamento / Abstract: Introduction: In Brazil abortion in cases of fetal malformation or anencephaly is prohibited by law. Pregnant women who want to perform an abortion in such cases must seek for a judicial order. Objectives: Evaluate the opinion of brazilian magistrates and Prosecutors about abortion in cases of fetal malformation incompatible with life and anencephaly. Methodology: It was a partial data analysis from data obtained in two researchs carried out by Centro de Pesquisas em Saúde Reprodutiva de Campinas (CEMICAMP ), to evaluate the opinion and conduct of these professionals about induced abortion. There were data from 1453 Magistrates and 2614 Prosecutors. It was made a data bank with data from the original studies, that was processed and analyzed using the statistical package SAS version 9.02. Results: For 78.5% of the Magistrates and 82.6% of the Prosecutors abortion should be permitted in cases of severe fetal malformation incompatible with life. In cases of anencephaly abortion should be permitted for 79.2% of the Magistrates and for 84.1% of the Prosecutors. Religiosity, influence of religion and personal religious convictions among responses, experience with unwanted pregnancy that ended in abortion, gender, marital status and the fact of having children had shown, in multivariable analysis, association with the opinion about abortion in the hypothesis studied. Conclusion: The great majority of Magistrates and Prosecutors had a favorable opinion about abortion in both hypothesis evaluated. Variables associated with religion had the strongest association with the opinion about abortion in cases of fetal malformation and anencephaly.Abstract: Introduction: In Brazil abortion in cases of fetal malformation or anencephaly is prohibited by law. Pregnant women who want to perform an abortion in such cases must seek for a judicial order. Objectives: Evaluate the opinion of brazilian magistrates and Prosecutors about abortion in cases of fetal malformation incompatible with life and anencephaly. Methodology: It was a partial data analysis from data obtained in two researchs carried out by Centro de Pesquisas em Saúde Reprodutiva de Campinas (CEMICAMP ), to evaluate the opinion and conduct of these professionals about induced abortion. There were data from 1453 Magistrates and 2614 Prosecutors. It was made a data bank with data from the original studies, that was processed and analyzed using the statistical package SAS version 9.02. Results: For 78.5% of the Magistrates and 82.6% of the Prosecutors abortion should be permitted in cases of severe fetal malformation incompatible with life. In cases of anencephaly abortion should be permitted for 79.2% of the Magistrates and for 84.1% of the Prosecutors. Religiosity, influence of religion and personal religious convictions among responses, experience with unwanted pregnancy that ended in abortion, gender, marital status and the fact of having children had shown, in multivariable analysis, association with the opinion about abortion in the hypothesis studied. Conclusion: The great majority of Magistrates and Prosecutors had a favorable opinion about abortion in both hypothesis evaluated. Variables associated with religion had the strongest association with the opinion about abortion in cases of fetal malformation and anencephaly / Mestrado / Ciencias Biomedicas / Mestre em Tocoginecologia