Li Chun-bong. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2001. / Includes bibliographical references (leaves 147-169). / Abstracts in English and Chinese. / Abstract --- p.i / Declaration --- p.vi / Acknowledgments --- p.vii / Table of Contents --- p.xi / List of Figures --- p.xii / List of Tables --- p.xvi / Abbreviations --- p.xvii / Chapter CHAPTER 1 --- INTRODUCTION AND LITERATURE REVIEWS / Chapter 1.1 --- Introduction --- p.1 / Chapter 1.2 --- Carcinoma of the cervix --- p.6 / Chapter 1.2.1 --- Squamous carcinoma --- p.6 / Chapter 1.2.2 --- Adenosquamous carcinoma --- p.7 / Chapter 1.2.3 --- Adenocarcinoma --- p.8 / Chapter 1.3 --- Molecular biology of Human papillomavirus --- p.9 / Chapter 1.3.1 --- Genome structure and organization of HPV --- p.9 / Chapter 1.3.2 --- Expression of papillomavirus genes --- p.11 / Chapter 1.3.3 --- Taxonomy of HPV --- p.20 / Chapter 1.4 --- Diagnostic techniques in HPV detection --- p.23 / Chapter 1.4.1 --- Southern blot analysis --- p.23 / Chapter 1.4.2 --- Dot blot analysis --- p.25 / Chapter 1.4.3 --- In situ hybridization --- p.26 / Chapter 1.4.4 --- Hybird Capture System --- p.28 / Chapter 1.4.5 --- Polymerase Chain Reaction --- p.30 / Chapter 1.5 --- Human papillomavirus in cervical carcinoma --- p.33 / Chapter 1.5.1 --- Prevalence --- p.33 / Chapter 1.5.2 --- Transmission --- p.37 / Chapter 1.5.3 --- Risk Factors --- p.39 / Chapter CHAPTER2 --- MATERIALS AND METHODS / Chapter 2.1 --- Materials --- p.44 / Chapter 2.1.1 --- Chemicals and regents --- p.44 / Chapter 2.1.2 --- Specimens collection --- p.48 / Chapter 2.2 --- Methods --- p.49 / Chapter 2.2.1 --- Summary of methodology --- p.50 / Chapter 2.2.2 --- DNA extraction from fresh and paraffin embedded tissues --- p.51 / Chapter 2.2.3 --- Polymerase Chain Reaction using HPV Consensus Primer MY09/11 --- p.55 / Chapter 2.2.3.1 --- Template for PCR --- p.55 / Chapter 2.2.3.2 --- PCR amplification --- p.55 / Chapter 2.2.3.3 --- PCR product analysis --- p.56 / Chapter 2.2.4 --- DNA sequencing --- p.57 / Chapter 2.2.4.1 --- DNA sequencing reaction for ALFexpress DNA automatic sequencing --- p.57 / Chapter 2.2.4.2 --- ABI comparative PCR sequencing --- p.59 / Chapter 2.2.4.3 --- DNA sequence analysis --- p.60 / Chapter 2.2.5 --- Restriction Fragment Length Polymorphism --- p.61 / Chapter 2.2.5.1 --- Template preparation --- p.61 / Chapter 2.2.5.2 --- Restriction enzyme digestion --- p.62 / Chapter 2.2.5.3 --- Agarose gel electrophoresis analysis --- p.62 / Chapter 2.2.6 --- HPV Type Specific PCR --- p.63 / Chapter 2.2.6.1 --- Preparation of positive control DNA --- p.63 / Chapter 2.2.6.2 --- Preparation of HPV 52 and HPV 58 type specific PCR --- p.63 / Chapter 2.2.6.3 --- PCR primer design --- p.66 / Chapter 2.2.6.4 --- PCR amplification --- p.68 / Chapter 2.2.7 --- Polymerase Chain Reaction using HPV Consensus Primer GP5+/6+ --- p.71 / Chapter 2.2.7.1 --- Template for PCR --- p.71 / Chapter 2.2.7.2 --- PCR amplification --- p.71 / Chapter 2.2.7.3 --- PCR product analysis --- p.72 / Chapter 2.2.8 --- Statistical analysis --- p.72 / Chapter CHAPTER3 --- RESULTS / Chapter 3.1 --- Histology review of tumor specimens --- p.73 / Chapter 3.2 --- Polymerase chain reaction of HPV consensus primer MY09/11 --- p.76 / Chapter 3.3 --- DNA sequencing reaction --- p.81 / Chapter 3.4 --- Restriction fragment length polymorphism --- p.86 / Chapter 3.5 --- HPV type specific polymerase chain reaction --- p.90 / Chapter 3.6 --- Polymerase chain reaction of HPV consensus primer GP5+/6+ --- p.109 / Chapter 3.7 --- "Correlations of HPV prevalence, geographical variation, histology and age of the cervical cancer patients" --- p.112 / Chapter CHAPTER4 --- DISCUSSION / Chapter 4.1 --- Prevalence of HPV infection in cervical cancer in China --- p.118 / Chapter 4.2 --- DNA extraction and detection methods --- p.131 / Chapter 4.3 --- Intratype variation of HPV --- p.141 / Chapter CHAPTER5 --- CONCLUSION AND FUTURE PERSPECTIVE --- p.143 / REFERENCES --- p.147 / RELEVANT PUBLICATIONS --- p.170

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / A influência da dieta e da hereditariedade nas características dentofaciais foi avaliada através do exame de duas populações indígenas amazônicas divididas por um processo de fissão linear. Os indígenas que constituem a aldeia Arara-Iriri são descendentes de um único casal expulso da aldeia Arara-Laranjal. O crescimento da aldeia Iriri ocorreu pelo acasalamento de parentes próximos, ratificado por um alto coeficiente de consanguinidade (F=0,25, p<0,001). A epidemiologia da má oclusão e das características da face foi analisada nos indivíduos entre dois e 22 anos, das aldeias Iriri (n=46) e Laranjal (n=130). A biometria da dentição e da face foi obtida em 55 indígenas em dentição permanente sem perdas dentárias, através da fotogrametria facial e dos modelos de gesso. O desgaste dentário foi examinado em 126 indivíduos através da análise de regressão múltipla. Os resultados revelaram uma determinação significativa da idade no desgaste dos dentes (R2=87,6, p<0,0001), que se mostrou semelhante entre as aldeias (R2=0,027, p=0,0935). Por outro lado, diferenças marcantes foram observadas nas características dentofaciais. Revelou-se uma face mais vertical (dolicofacial) entre os índios Iriri e o predomínio do tipo braquifacial nos indígenas da aldeia original, corroborado pela fotogrametria. Uma face sagitalmente normal foi observada em 97,7% da aldeia Laranjal, enquanto faces convexas (26,1%, RR-16,96) e côncavas (15,2%, RR=19,78) eram mais prevalentes na aldeia Iriri (p<0,001). A biprotrusão, com consequente redução do ângulo nasolabial, era uma característica comum entre os Arara, porém com maior prevalência no grupo Iriri (RP=1,52, p=0,0002). A prevalência da má oclusão foi significativamente mais alta na aldeia Iriri (RP= 1,75, p=0,0007). A maioria da população da aldeia original (83,8%) apresentou uma relação normal entre os arcos dentários, contudo, na aldeia resultante (Iriri), 34,6% dos indivíduos era Classe III (RP=6,01, p<0,001) e 21,7% era Classe II (RP=2,02, p=0,05). Enquanto nenhum caso de apinhamento e de sobremordida foi observado na aldeia Iriri, a razão da prevalência era 2,64 vezes maior para a mordida aberta anterior (p=0,003), 2,83 vezes (p<0,001) para a mordida cruzada anterior, 3,93 (p=0,03) para a sobressaliência aumentada, e de 4,71 (p=0,02) para a mordida cruzada posterior. Observou-se uma alta prevalência das perdas dentárias, sem diferença entre as aldeias (RP=1,46, p=0,11). O exame dos modelos revelou uma tendência de incisivos maiores e pré-molares e caninos menores na aldeia Iriri, delineando uma semelhança na massa dentária total entre as aldeias, que, aliada a arcadas dentárias maiores, justificaram o menor índice de irregularidade dos incisivos entre esses indígenas. Esses resultados minimizam a influência do desgaste dentário, uma evidência direta de como um indivíduo se alimentou no passado, no desenvolvimento dentofacial e enfatizam o predomínio da hereditariedade, através da endogamia, na etiologia da variação anormal da oclusão dentária e da morfologia da face. / The influence of diet and genetics on dentofacial features was examined through the analysis of two split indigenous Amazon populations originated by a process of a linear fission. The Arara-Iriri indigenous are descendants of a single couple who were expelled from a larger village (Arara-Laranjal). In the resultant new village, the initial expansion occurred through the mating of closely related people, causing a high coefficient of inbreeding (F=0.25, p<0.001). The epidemiology of malocclusion and facial characteristics were analyzed in individuals aged from 2 to 22 years, from the Arara-Iriri (n=46) and Arara-Laranjal (n=130) villages. The biometric study of the dentition and face was performed in the permanent dentition of the indigenous without tooth loss (n=55) by facial photogrammetry and dental casts analysis. Tooth wear was examined in 126 individuals in the permanent dentition through multiple regression analysis. Findings pointed out a significant determination of age on tooth wear (R2=87.6, p<0.0001), which was similar between the villages (R2=0.027, p=0.0935). However, we found marked differences in the dentofacial morphology. The indigenous of the Iriri village presented a more vertical face (dolichofacial) compared to the people of the original village, predominantly braquifacial. This clinical data was corroborated by facial photogrammetry. A sagitally normal face was observed in 97.7% of the Laranjal village, while convex (26.1%, RR=16.96) and concave faces (15.2%, RR=19.78) were significantly more prevalent in the Iriri village (p<0.001). Biprotrusion, with consequent reduction of nasolabial angle, was a common feature among the Arara indigenous, but its occurrence in the Iriri village was higher (RP=1.52, p=0.0002). The prevalence of malocclusion was significantly higher in the Iriri population (RP=1.75, p=0.0007). While the majority of the population (83.8%) in the Laranjal village presented a normal Class I relationship, in the Iriri village 34.6% were Class III (RP=6.01, p<0.001) and 21.7% were class II (RP=2.02, p=0.05). No case of crowding and overbite was observed in the Iriri village, however the relative risk was 2.64 times greater for anterior open bite (p=0.003), 2.83 for anterior crossbite (p<0.001), 3.93 for increased overjet (p=0.03), and 4.71 times (p=0.02) for posterior crossbite. We observed a high prevalence of tooth loss, with no significant difference between the villages (RP=1.46, p=0.11). The dental cast analysis revealed larger incisors combined to smaller cuspids and bicuspids in the Iriri sample, causing an overall similarity in the total tooth size between the villages, which associated to larger dental arch dimensions, explained a decreased incisor irregularity in the Iriri indigenous. These findings mitigates the influence of tooth wear, a direct evidence of what an individual ate in the past, on dentofacial development and emphasize the role of heredity, through inbreeding, in the etiology of abnormal variation of dental occlusion and facial morphology of current human populations.

Les syndromes grippaux sont à l'origine des pathologies bénignes ou graves pouvant entrainer plusieurs millions de décès chaque année dans le monde. Ils s'expriment de façon épidémique, annuellement, et peuvent prendre un aspect pandémique. L'émergence d'une nouvelle souche de virus influenza A (pH1N1) en 2009 a suscité l'accroissement de la surveillance des virus grippaux. Par ailleurs, les syndromes diarrhéiques d'origine virale, représentent un problème majeur de santé publique chez les enfants de moins de 5 ans. Peu de données existent sur la circulation des virus grippaux et diarrhéiques au Gabon. Dans ce contexte, nous avons mis en place un réseau de surveillance des virus grippaux et diarrhéiques au Gabon. L'objectif de cette étude était de caractériser les virus responsables des syndromes grippaux et diarrhéiques dans quatre principales villes du Gabon. S'agissant des grippes, 1066 écouvillons nasaux ont été récoltés sur la période allant de Juillet 2009 à Juin 2011. Trois cent dix sept (317) selles ont été récoltées chez les enfants de moins de 5 ans dans la période allant de Mars 2010 à Juin 2011. Les étiologies virales ont été analysées par PCR en temps réel avec des amorces spécifiques des virus responsables des syndromes grippaux : les virus influenza A et B saisonnier, le virus influenza A pandémique (pH1N1), les parainfluenzavirus de type 1 à 4 (PIV1-4), le virus respiratoire syncytial (VRS), le métapneumovirus humain (hMPV), les coronavirus NL63 (HCoV-NL63), HKU1(HCoV-HKU1), OC43 (HCoV-OC43), 229E (HCoV-229E), les adénovirus (AdVs), les rhinovirus (HRVs), les parechovirus (HPeVs), les entérovirus (EVs). Les virus diarrhéiques recherchés ont été : les adénovirus, les norovirus de type 1 et 2 (NoV-I, NoV- II), les sapovirus (SaVs), les astrovirus (HAstVs) et les Rotavirus A (RVA). Les diversités génétiques ont été analysées par analyses phylogénétiques suivant les séquençages des fragments amplifiés. Parmi les écouvillons analysés, 61% (n=654) étaient positifs pour au moins un des virus recherchés : AdV (16%), PIVs (15%), virus influenza (13%), EV (12%), VRS (12%), HRV (8%), HCoVs (6,5%), hMPV (2%) et HPeV (0,5%). Les enfants de moins de cinq ans représentaient la population la plus susceptible (78%). Les co-infections virales ont été retrouvées dans près d'un tiers (1/3) des cas de syndromes grippaux : 25% (2 virus), 6% (3 virus) et 1 cas de co-infections par 4 virus. Elles concernent principalement les AdVs (41%) et EVs (43%). La saisonnalité des syndromes grippaux a été également mise en évidence : 70% surviennent pendant les saisons de pluies. La prévalence des étiologies virales des diarrhées chez les enfants de moins de 5 ans était de 60,9% (n=193). Les virus responsables de celles-ci étaient : RVA (21,7%), AdV (19,6%), NoV-I (9,1%), NoV-II (13,9%), SaV (9,5%) et HastV (6,3%). Parmi les AdV, le sérotype majoritaire était AdV-41 (espèce F) alors que le génotype majoritaire des astrovirus était HAstV-1. Nous avons obtenu un génotypage en G/P total ou partiel pour 59 patients. Les souches identifiées étaient : G1P[8] (8,5%), G2P[4] (3,4%), G3P[6] (1,7%), G6P[6] (40,7%), G12P[8] (3,4%), G1 (1,7%), G2 (3,4%), G3 (3,4%), G6 (13,5%), G12 (6,7%), P[6] (8,5%), P[8] (5,1%). Ce travail a permis la mise en place d'un réseau de surveillance des virus responsables des syndromes grippaux afin de mieux faire face aux épidémies et pandémies au Gabon. L'étude des syndromes diarrhéiques a permis d'identifier les souches circulant au Gabon, notamment celles de rotavirus ayant un impact en santé publique. Ces résultats permettent d'envisager une meilleure adaptation de la prise en charge thérapeutique et une réflexion en ce qui concerne la mise en place d'une stratégie vaccinale contre les rotavirus et les virus grippaux. / Influenza-like illness (ILI) is causing mild to severe illnesses that can cause million of deaths each year worldwide. They cause epidemics annually or pandemics. The emergence of a new strain of influenza A virus (pH1N1) in 2009 sparked increased surveillance of influenza viruses. In addition, diarrheal syndromes represent a major public health problem among children under 5 years old. Few data exist on the circulation of influenza and diarrhea viruses in Gabon. In this context, a network surveillance of ILI and diarrhea virus was established in Gabon. The objective of this study was to characterize the viruses responsible of influenza-like illness and diarrhea in four major cities of Gabon.1066 nasal swabs were collected from July 2009 to June 2011. Three hundred and seventeen (317) stools were collected from children under 5 years old from March 2010 to June 2011. Viral etiologies were analyzed by real-time PCR with primers specifics of viruses responsible of ILI: seasonal influenza A and B, pandemic influenza, parainfluenza viruses type 1-4 (PIV1-4), respiratory syncytial virus (RSV), human metapneumovirus (hMPV), coronaviruses NL63 (HCoV-NL63), HKU1 (HCoV-HKU1), OC43 (HCoV-OC43), 229E (HCoV-229E), adenoviruses (AdVs), rhinoviruses (HRVs), parechovirus (HPeVs), enteroviruses (EVs). The enteric viruses were: adenoviruses, noroviruses type 1, 2 (NoV-I, NoV- II), sapoviruses (SaVs), astroviruses (HAstVs) and rotaviruses A (RVA). Genetic diversity was analyzed by phylogenetic analysis following the sequencing of the amplified fragments.Among the swabs analyzed, 61% (n = 654) were positive for at least one virus: AdV (16%), PIVs (15%), virus influenza (13%), EV (12%), RSV (12%), HRV (8%), HCoVs (6.5%), hMPV (2%) and HPeV (0,5%). Children under five years old were the most susceptible population (78%). Viral co-infections were found in nearly one-third (1/3) cases of influenza-like illness: 25% (2 viruses), 6% (3 viruses) and 1 case of co-infection with four viruses. They mainly concerned AdV (41%) and EVs (43%). The seasonality of influenza-like illness has also been showed: 70% occured during the rainy seasons. The prevalence of viral etiologies of diarrhea in children under 5 years old was 60.9% (n = 193). The virus responsible of these were: RVA (21.7%), AdV (19.6%), NoV-I (9.1%), NoV-II (13.9%), SaV (9.5 %) and HastV (6.3%). Among the AdV, the majority serotype was AdV-41 (species F), while the majority of astrovirus genotype was HAstV-1. We got a total or partial genotyping G/P for 59 patients. The strains were identified: G1P[8] (8.5%), G2P[4] (3.4%), G3P[6] (1.7%), G6P[6] (40.7%), G12P[8] (3.4%), G1 (1.7%), G2 (3.4%), G3 (3.4%), G6 (13.5%), G12 (6.7%), P[6] (8.5%), P[8] (5.1%). This work allowed the establishment of a surveillance network of viruses responsible of ILI and diarrhea in order to deal with epidemics and pandemics in Gabon. The study of diarrheal syndromes identified strains circulating in Gabon, including rotavirus affecting public health. These results allow us to consider a better adaptation of therapeutic and reflection regarding the implementation of a vaccination strategy against rotavirus and influenza viruses.

Man, Chi Wai. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2009. / Includes bibliographical references (leaves 141-184). / Abstract also in Chinese. / Acknowledgements --- p.ii / Abstract --- p.iv / Abbreviations --- p.xi / List of Tables --- p.xviii / List of Figures --- p.xx / Major Conference Presentations --- p.xxii / Publications in Preparation --- p.xxiv / Study Flowchart --- p.xxv / Chapter Chapter 1 --- Study Background --- p.1 / Chapter 1. --- Introduction --- p.2 / Chapter 1.1. --- General Overview of Adolescent Idiopathic Scoliosis (AIS) --- p.2 / Chapter 1.2. --- Natural History --- p.3 / Chapter 1.3. --- Current Treatments --- p.5 / Chapter 1.4. --- Additional Phenotypes Abnormalities --- p.9 / Chapter 1.5. --- Bone Modeling and Remodeling in Adolescents --- p.14 / Chapter 1.6. --- Bone Development --- p.15 / Chapter 1.7. --- Bone (re)modeling by osteoclasts and osteoblasts --- p.17 / Chapter 1.8. --- Factors Affecting Osteoblasts Regulation --- p.19 / Chapter 1.9. --- Current Hypothesis on the Etiology of AIS --- p.21 / Chapter 1.10. --- Melatonin --- p.26 / Chapter Chapter 2 --- Hypothesis and Objectives --- p.47 / Chapter 2. --- Hypothesis and Objectives --- p.48 / Chapter 2.1. --- Study Hypothesis --- p.48 / Chapter 2.2. --- Objectives --- p.48 / Chapter Chapter 3 --- Study on the Anthropometric Parameters and Bone Geometry of Girls with Severe AIS --- p.49 / Chapter 3.1. --- Introduction --- p.50 / Chapter 3.2. --- Methodology --- p.51 / Chapter 3.2.1. --- Recruitment of Subjects --- p.51 / Chapter 3.2.2. --- Evaluation of Curve Severity of Scoliosis --- p.52 / Chapter 3.2.3. --- Anthropometric Measurements --- p.53 / Chapter 3.2.4. --- Measurements of BMD --- p.53 / Chapter 3.2.5. --- Data Analysis --- p.54 / Chapter 3.3. --- Results --- p.55 / Chapter 3.3.1. --- Anthropometry --- p.55 / Chapter 3.3.2. --- BMD of Femoral Neck and Midshaft of Radius --- p.56 / Chapter 3.4. --- Discussion --- p.57 / Chapter Chapter 4 --- Response of Osteoblasts to Melatonin in AIS Girls In vitro Study --- p.69 / Chapter 4.1. --- Introduction --- p.70 / Chapter 4.2. --- Methodology --- p.72 / Chapter 4.2.1. --- Subjects Recruitments --- p.72 / Chapter 4.2.2. --- Cell Isolation --- p.73 / Chapter 4.2.3. --- Effect of Melatonin on Proliferation and Differentiation of AIS Osteoblasts --- p.76 / Chapter 4.2.4. --- Data Analysis --- p.79 / Chapter 4.3. --- Results --- p.80 / Chapter 4.3.1. --- Isolated Osteoblasts from Normal Human and AIS Patients --- p.80 / Chapter 4.3.2. --- Effect of Melatonin on Osteoblasts Proliferation --- p.80 / Chapter 4.3.3. --- Effect of Melatonin on Cell Differentiation --- p.81 / Chapter 4.4. --- Discussion --- p.83 / Chapter Chapter 5 --- Expression of MT1 and MT2 receptors in AIS Osteoblasts --- p.101 / Chapter 5.1. --- Introduction --- p.102 / Chapter 5.2. --- Methodology --- p.104 / Chapter 5.2.1. --- Osteoblast Samples --- p.104 / Chapter 5.2.2. --- Protein Expression of Melatonin Receptors in AIS Osteoblasts. --- p.105 / Chapter 5.2.3. --- Genotyping of MT2 receptors by Restriction Fragment Length Polymorphism (RFLP) --- p.109 / Chapter 5.2.4. --- Clinical Evaluations of the AIS Patients --- p.110 / Chapter 5.2.5. --- Data Analysis --- p.110 / Chapter 5.3. --- Results --- p.111 / Chapter 5.3.1. --- Semi quantification of Melatonin Receptors in AIS Osteoblasts 111 --- p.111 / Chapter 5.3.2. --- RFLP --- p.112 / Chapter 5.3.3. --- Functional Response Between the Different AIS Groups --- p.112 / Chapter 5.3.4. --- Correlation of the Clinical Phenotypes with the Different AIS Subgroups --- p.114 / Chapter 5.4. --- Discussion --- p.115 / Chapter Chapter 6 --- Summary and Conclusion --- p.132 / Chapter 6.1. --- Summary and Discussion --- p.133 / Chapter 6.2. --- Limitations and Further Studies --- p.136 / Chapter 6.3. --- Conclusion --- p.138 / Bibliography --- p.141 / Appendix I --- p.185 / Appendix II --- p.186 / Appeddix III --- p.187 / Appendix IV --- p.188 / Appendix V --- p.189 / Appendix VI --- p.190

Zhong, Lan. / Thesis Ph.D. Chinese University of Hong Kong 2014. / Includes bibliographical references (leaves 122-154). / Abstracts also in Chinese. / Title from PDF title page (viewed on 24, October, 2016). / Zhong, Lan.

Objetivo: Contribuir para a ampliação do conhecimento das fissuras orais, descrevendo, sob o aspecto genético-clínico, uma amostra de indivíduos com fissura pré-forame incisivo uni/bilateral incompleta e fissura pós-forame incisivo associadas. Casuística e metodologia: Foram selecionados 356 indivíduos com fissura pré-forame incisivo uni/bilateral incompleta, sem acometimento do arco alveolar, associada à fissura pós-forame incisivo, cadastrados e em tratamento no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo, Bauru, SP. Dados de razão sexual, idade parental na época da concepção, consanguinidade parental, recorrência familial, lateralidade da fissura e presença de anomalias associadas à fissura foram investigados. Para análise dos resultados foram destacados dois grupos (Grupos I e Grupo II) da amostra total. No Grupo I foram incluídos os indivíduos que apresentaram fissura pré-forame incisivo cicatricial, independentemente do tipo de acometimento pós-forame. Indivíduos do Grupo I, que, além de apresentarem fissura pré-forame incisivo cicatricial apresentaram também algum tipo de microforma de fissura pós-forame incisivo, foram destacados para formarem também o Grupo II. Testes estatísticos de comparação foram realizados entre os Grupos e o restante da amostra e entre a amostra total e dados da literatura pertinente. Resultados e Discussão: Observou-se diferença estatisticamente significativa entre a amostra total e os dados da literatura em relação à lateralidade da fissura, razão sexual, consanguinidade, recorrência familial e presença de anomalias associadas. Observou-se, ainda, diferença estatisticamente significativa entre o Grupo II e o restante da amostra total quanto à idade paterna e, entre os Grupos I e II e a amostra total, em relação à ocorrência de múltiplas anomalias associadas à fissura. A amostra estudada apresentou, em geral, as mesmas características genético-clínicas do grupo das fissuras pré e transforame incisivo (FL/P). As diferenças encontradas não permitiram afirmar a distinção da fissura pré-forame associada à fissura pós-forame incisivo, sem acometimento do arco alveolar (FL+FP) das FL/P. Da mesma forma não foi possível afirmar, pelos resultados obtidos, que os Grupos I e II eram distintos da amostra total. Conclusão: Embora não se possa afirmar que FL+FP seja distinta das FL/P, suas características peculiares apontam para essa diferenciação. Os indivíduos com quadros de microformas de fissura constituem um grupo alvo de investigações sobre possíveis mecanismos genéticos que levam à gravidade variável dessas malformações. / Purpose: To contribute to the expansion of knowledge about oral clefts, describing the clinical and genetic aspect of a sample of individuals with cleft lip associated with cleft palate, without alveolar arch involvement, showing or not other abnormalities. Patients and methods: We selected 356 patients with incomplete cleft lip uni/bilateral associated with cleft palate, without alveolar arch involvement, registered and in treatment at the Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo, Bauru, SP. Data for sexual ratio, parental age at the time of conception, parental consanguinity, familial recurrence, laterality of cleft and presence of associated anomalies were investigated. Regarding the analysis of the results two groups were detached (Group I and Group II) from the total sample. In Group I it was included individuals who had healed cleft lip, regardless of the type of palate involvement. Individuals in Group I, which, besides having had healed cleft lip also had some type of microform cleft palate were also detached to form Group II. Statistical tests were performed for comparison between groups and remainder of the sample, and between the total sample and literature data. Results and Discussion: There was a statistically significant difference between the total sample and literature data regarding laterality of the cleft, sexual ratio, consanguinity, familial recurrence and presence of associated anomalies. There was also a statistically significant difference between Group II and the remainder of the sample regarding paternal age, and between Groups I and II and the total sample in relation to the occurrence of multiple anomalies associated with cleft. The sample has, in general, the same genetic and clinical characteristics of the group of cleft lip with or without cleft palate (CL/P). The differences did not allow distinction between cleft lip associated cleft palate without involvement of the alveolar arch (CL+CP) and CL/P. Likewise it is not possible to affirm, from the results obtained, that Groups I and II are distinct from the total sample. Conclusion: Although we can not say that CL+CP is distinct from the CL/P, its peculiar features indicate to this differentiation. Individuals with microforms of cleft constitute a target group for research on possible genetic mechanisms that lead to varying severity of these malformations.

La maladie de Crohn (MC) est caractérisée par une inflammation intestinale chronique affectant potentiellement n'importe quel segment du tube digestif. L’étiologie de la maladie reste encore inconnue, cependant, la théorie la plus largement acceptée repose sur une réponse inflammatoire anormale dirigée contre le microbiote intestinal chez un hôte génétiquement prédisposé. Plusieurs études ont démontré que la muqueuse iléale de patients atteints de MC est anormalement colonisée par des souches de Escherichia coli adhérentes et invasives (AIEC). Toutefois, à ce jour, au Brésil, aucune étude ne démontre la présence de telles souches d’E. coli chez les patients atteints de MC. Le but de cette étude était d'isoler et de caractériser les souches de E. coli chez les patients atteints de MC au Brésil. Les biopsies ont été réalisées sur 35 sujets, 24 atteints de MC et 11 contrôles. La colonisation par des entérobactéries associées à la muqueuse iléale de patients atteints de MC a été montré élevée par rapport au groupe contrôle. Parmi les 270 souches isolées, 241 ont été identifiées comme étant des E. coli : 183 à partir de patients atteints de MC et 58 des contrôles. La recherche de différents groupes phylogénétiques de E. coli a été réalisée par PCR. Il n'y a pas de différence significative entre la répartition des groupes phylogénétiques des souches de E. coli isolées dans le groupe témoin et les patients MC. Les capacités d'adhésion et d’invasion des souches aux cellules épithéliales intestinales humaines I-407 ont été analysées, aussi bien que sa capacité à survivre et se multiplier en macrophages humains THP-1. L'analyse moléculaire par PCR a également été réalisée pour la détection des facteurs de virulence et la présence de polymorphismes génétiques associées à des souches AIEC. Dans cette étude, seuls quelques- uns des isolats de E. coli présentaient des propriétés invasives et la capacité de survivre dans les macrophages. En outre, l’analyse de la séquence fimH des souches de E. coli isolées dans cette étude n'a pas révélé la sélection de polymorphismes dans l’adhésine FimH, comme décrit pour la collection de souches AIEC isolées chez des patients européens. Ces résultats ont donc permis de montrer que les souches isolées chez les patients atteints de MC brésiliens n’ont probablement pas encore co-évolué avec leur hôte pour développer un phénotype adhérent-invasif fort, mais il sera essentiel de suivre à l'avenir l'évolution des ces souches dans la population brésilienne pour comprendre la sélection et l'évolution du phénotype AIEC. / Crohn's disease (CD) is characterized by chronic intestinal inflammation potentially affecting any segment of the digestive tract. The etiology of the disease is still unknown, however, the most widely accepted theory relies on an abnormal inflammatory response directed against the gut microbiota in a genetically predisposed host. Several studies have shown that the ileal mucosa of patients with CD is abnormally colonized by adherent and invasive Escherichia coli strains (AIEC). However, to date, in Brazil, no study has demonstrated the presence of such E. coli strains. coli in patients with CD. The purpose of this study was to isolate and characterize E. coli strains in patients with CD in Brazil. Biopsies were performed on 35 subjects, 24 with MC and 11 controls. Colonization with enterobacteria associated with the ileal mucosa of MC patients was shown to be elevated relative to the control group. Of the 270 strains isolated, 241 were identified as E. coli: 183 from CD patients and 58 controls. The search for different phylogenetic groups of E. coli was performed by PCR. There is no significant difference between the distribution of phylogenetic groups of E. coli strains isolated in the control and MC patients. The adhesion and invasion abilities of strains to human intestinal epithelial cells I-407 were analyzed, as well as its ability to survive and multiply into human macrophages THP-1. PCR molecular analysis was also performed for the detection of virulence factors and the presence of genetic polymorphisms associated with AIEC strains. In this study, only a few of the E. coli isolates had invasive properties and the ability to survive in macrophages. In addition, analysis of the fimH sequence of E. coli strains isolated in this study did not reveal the selection of polymorphisms in the FimH adhesin, as described for the collection of AIEC strains isolated from European patients. These results have thus shown that strains isolated from patients with Brazilian CD probably have not yet co-evolved with their host to develop a strong adherent-invasive phenotype, but it will be essential to monitor the future evolution of these strains in the Brazilian population to understand the selection and evolution of the AIEC phenotype.

This project consists of three distinct, but sequential studies that explore the psychological factors and neuropathological substrates of metacognition or self-awareness among older adults. Study 1 examines the premorbid, psychological characteristics associated with metamemory—the mainstay of metacognitive research—in a healthy, community-dwelling cohort of older adults. Study 2 builds on these analyses, and examines the psychological characteristics associated with metacognition, more broadly, in a neurologic cohort of older adults with Essential Tremor (ET). Study 3, which utilizes post-mortem evaluations of participants from Study 2, goes beyond premorbid characteristics and examines whether distortions in metacognition are in part attributable to an underlying disease process. Findings demonstrated that psychological characteristics were associated with metacognitive accuracy in a healthy, community-dwelling cohort of older adults, but not among individuals with ET; further, distortions in metacognition among individuals with ET were better attributable to non-ET specific pathologies, such as amyloid β, neurofibrillary tangles, and regional-specific atrophy. This project underscores the importance of employing a biopsychosocial approach to understanding the factors that influence metacognition. Ultimately, by understanding and working effectively with awareness phenomena, there is a strong potential to reduce disability and enhance well-being.

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