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Diss. (sammanfattning) Stockholm : Karol. inst. / Härtill 6 uppsatser.

This research has provided an analysis of how the issue of age is related to the expression of specific symptoms characteristic of the genetic disorder known as Marfan syndrome. Marfan syndrome occurs when the body cannot produce, or produces too little fibrillin-1, a component of the connective tissues. The body systems affected by Marfan syndrome include the skeletal, cardiovascular, ocular, and pulmonary systems. Evidence drawn from medical case studies showed that while not statistically significant, illustrated that symptom expression increases with age, especially during the period of adolescence. The evidence also suggested that the type of physician involved in a diagnosis may affect the information provided in case studies. / Department of Anthropology

Orientador: Fausto Bérzin / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba / Made available in DSpace on 2018-08-18T23:29:00Z (GMT). No. of bitstreams: 1 JordaoJunior_Wanderley_M.pdf: 2398952 bytes, checksum: 06be67e20c0f8dc97133a83683587c05 (MD5) Previous issue date: 2011 / Resumo: Disfunção temporomandibular (DTM) pode afetar os músculos da mastigação, articulação temporomandibular (ATM) e estruturas associadas. Suas principais manifestações clínicas são ruído articular, abertura assimétrica ou limitada da boca e dor que pode afetar tanto a ATM quanto os músculos. Um sintoma também bastante presente é a fadiga muscular. Sua etiologia é multifatorial, o que dificulta a prática diagnóstica e a terapêutica. Métodos diagnósticos auxiliares, como a eletromiografia, são cada vez mais utilizados com o intuito de fornecer parâmetros objetivos da patologia. Este trabalho comparou mulheres com e sem DTM em relação à dor, fadiga muscular, simetria, força de mordida e potencial elétrico dos músculos masseter esquerdo (ME), masseter direito (MD), temporal esquerdo (TE) e temporal direito (TD) no repouso e durante a Contração Voluntária Máxima (CVM). Participaram do estudo 39 voluntárias, na faixa etária de 18 a 42 anos, índice de massa corpórea (IMC) ? 25, com dentição até os segundos molares, sendo 20 portadoras de DTM muscular (RDC/TMD) e 19 sem sintomas de DTM (controle). Foram utilizados: 1) Escala Visual Analógica (EVA), para mensurar a auto-percepção da intensidade da dor; 2) Algometria para determinar o Limiar de Dor à Pressão (LDP); 3) Gnatodinamometria, para mensurar a força de mordida e 4) Eletromiografia de superfície, para medir o potencial elétrico dos músculos no repouso e CVM. Observaram-se diferenças estatisticamente significativas entre grupos em relação à simetria para os masseteres; RMS no repouso e na CVM, ambos para o TE; algometria e escala visual analógica (para todos os músculos estudados) e força de mordida produzida na CVM. Não houve diferença significativa entre sujeitos com e sem DTM com relação à análise da fadiga através das médias das inclinações das frequências medianas / Abstract: Temporomandibular disorder (TMD) can affect the masticatory muscles, the temporomandibular joint (TMJ), and closely-related structures. Its main clinical signs are joint sound, limited or asymmetric opening of the mouth, pain that can affect both the TMJ and its muscles, and muscular fatigue. Its etiology is multifactorial, which makes diagnostic and therapeutic practice challenging. Ancillary diagnostic methods, such as the electromyography, are increasingly used to provide objective parameters of this disease. This study compared women with and without TMD in the perspective of pain, fatigue, muscle symmetry, bite force and electric potential of such muscles as the left masseter (LM), right masseter (RM), left temporal (LT), and right temporal (RT), at rest and during maximum voluntary contraction (MVC). This study included 39 volunteers, age 18-42 years, with a body mass index (BMI) of ? 25, and having dentition until the second molars. Of all the individuals, 20 presented with TMD (RDC / TMD) and 19 without symptoms of TMD (control). The visual analogue scale (VAS) was used to measure self-perception of pain intensity, the algometer to determine the pressure pain threshold (PPT), the gnathodynamometer to measure bite force, and the surface electromyography to measure the electrical potential of muscles at rest and during MVC. We observed statistically significant differences between groups in terms of masseter symmetry; RMS at rest and the MVC, both for the LT; algometry and visual analogue scale (for all muscles studied) and bite force produced in the MVC. Fatigue analysis showed no significant differences among subjects with and without TMD, considering the mean values obtained for the median frequency slopes / Mestrado / Anatomia / Mestre em Biologia Buco-Dental

The location of accessory pathways in Wolff-Parkinson-White syndrome patients is performed manually during open heart surgery at Groote Schuur Hospital, using a hand-held roving electrode. This manual procedure is slow and tedious, prolonging the operation and the time for which the patient remains on cardiac bypass. A multichannel electrogram acquisition and display system with a storage facility would significantly reduce the time taken and improve the reliability of locating the accessory pathways. Having considered a number of currently available cardiac mapping systems it was decided that a new system be developed for specific application within Groote Schuur Hospital. The main design goals of this system are to improve accuracy, increase reliability and enhance the speed of the entire mapping procedure with direct benefit to staff and patients. The system is based on an IBM compatible computer and allows for the acquisition of a maximum of thirty-two electrogram inputs. A typical configuration would acquire twenty epicardial, two references (one each from atrium and ventricle), one roving electrode and two surface lead signals. The epicardial signals are obtained from a custom-built electrode belt which is placed around the heart over the atrioventricular groove. The project includes the development of front-end hardware and software for processing, display and storage of electrogram signals. The relative activation times of the signals are displayed under software control in order to facilitate the location of any accessory pathway(s).

Chan, Ka Ying. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2009. / Includes bibliographical references (leaves 133-150). / Abstract also in Chinese. / ABSTRACT --- p.i / 摘要 --- p.iii / ACKNOWLEDGEMENTS --- p.iv / CONTRIBUTORS --- p.vi / TABLE OF CONTENTS --- p.vii / LIST OF TABLES --- p.x / LIST OF FIGURES --- p.xi / LIST OF ABBREVIATIONS --- p.xiii / Chapter SECTION I: --- BACKGROUND --- p.1 / Chapter CHAPTER 1: --- PRENATAL DIAGNOSIS OF FETAL TRISOMY 21 --- p.2 / Chapter 1.1 --- Down syndrome --- p.2 / Chapter 1.2 --- Current methods of prenatal diagnosis of fetal trisomy 21 --- p.3 / Chapter 1.2.1 --- Non-invasive procedures --- p.3 / Chapter 1.2.2 --- Invasive procedures --- p.5 / Chapter 1.3 --- Alternative methods for the prenatal diagnosis of fetal trisomy 21 --- p.7 / Chapter CHAPTER 2: --- CELL-FREE FETAL NUCLEIC ACIDS IN MATERNAL PLASMA --- p.13 / Chapter 2.1 --- Circulating fetal cells --- p.15 / Chapter 2.2 --- Circulating cell-free fetal nucleic acids --- p.15 / Chapter 2.3 --- Diagnostic applications of cell-free fetal nucleic acids in maternal plasma --- p.17 / Chapter 2.4 --- Digital relative chromosome dosage approach --- p.20 / Chapter 2.5 --- Validation of digital RCD approach on artificial DNA mixtures --- p.22 / Chapter SECTION II --- : MATERIALS AND METHODS --- p.25 / Chapter CHAPTER 3: --- QUANTITATIVE ANALYSIS OF NUCLEIC ACIDS --- p.26 / Chapter 3.1 --- Subject recruitment and sample collection --- p.26 / Chapter 3.2 --- Sample processing --- p.26 / Chapter 3.3 --- Nucleic acid extraction --- p.27 / Chapter 3.3.1 --- Extraction of DNA from placental tissues --- p.27 / Chapter 3.3.2 --- Extraction of DNA from maternal blood cells --- p.27 / Chapter 3.4 --- Matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF MS) --- p.28 / Chapter 3.5 --- Paralogous sequence assays optimisation workflow --- p.31 / Chapter 3.5.1 --- Monoplex paralogous sequence assays --- p.31 / Chapter 3.5.2 --- Multiplex paralogous sequence assay --- p.38 / Chapter 3.6 --- Digital PCR --- p.42 / Chapter 3.6.1 --- Principle --- p.42 / Chapter 3.6.2 --- Digital multiplex paralogous sequence assay --- p.42 / Chapter 3.7 --- Statistical analysis --- p.46 / Chapter 3.7.1 --- Disease classification of samples --- p.46 / Chapter 3.7.2 --- Poisson distribution --- p.46 / Chapter 3.7.3 --- Data analysis --- p.48 / Chapter 3.7.4 --- Sequential probability ratio test (SPRT) analysis --- p.49 / Chapter SECTION III: --- ASSAY DEVELOPMENT --- p.53 / Chapter CHAPTER 4: --- TESTING OF ASSAY SPECIFICITY WITH CORIELL CELL LINES --- p.54 / Chapter 4.1 --- Coriell cell lines --- p.54 / Chapter 4.2 --- Specificity of initial PCR primers --- p.56 / Chapter 4.2.1 --- Principle --- p.56 / Chapter 4.2.2 --- Materials and methods --- p.56 / Chapter 4.2.3 --- Results --- p.60 / Chapter 4.2.4 --- Conclusion --- p.63 / Chapter 4.3 --- Specificity of the iPLEX® Gold extension primers --- p.63 / Chapter 4.3.1 --- Principle --- p.63 / Chapter 4.3.2 --- Materials and methods --- p.64 / Chapter 4.3.3 --- Results --- p.65 / Chapter 4.4 --- Further analysis on the specificity of PV2107a initial PCR primers --- p.67 / Chapter 4.5 --- Conclusion --- p.71 / Chapter CHAPTER 5: --- ASSAY OPTIMISATION --- p.72 / Chapter 5.1 --- Introduction --- p.72 / Chapter 5.2 --- Optimisation of initial PCRs with AmpliTaq Gold® DNA polymerase followed by homogeneous MassEXTEN´DёØ (hME) assays (Sequenom) --- p.72 / Chapter 5.2.1 --- Optimisation of initial PCR reactions --- p.72 / Chapter 5.2.2 --- Principle of homogeneous MassEXTEN´DёØ assays (Sequenom)… --- p.75 / Chapter 5.2.3 --- Homogeneous MassEXTEN´DёØ assays (Sequenom) on euploid and T21 samples --- p.76 / Chapter 5.3 --- Assay selection by iPLEX® Gold single base primer extension reactions (Sequenom) --- p.82 / Chapter 5.4 --- Optimisation of multiplex PCR with AmpliTaq Gold® DNA polymerase --- p.88 / Chapter 5.5 --- Optimisation of multiplex iPLEX® Gold single base primer extension reaction --- p.93 / Chapter 5.6 --- Single molecule detection test for the multiplex paralogous sequence assays … --- p.103 / Chapter SECTION IV: --- ANALYSIS OF CLINICAL SAMPLES --- p.107 / Chapter CHAPTER 6: --- DISEASE CLASSIFICATION OF EUPLOID AND TRISOMY SAMPLES WITH MULTIPLEX PARALOGOUS SEQUENCE ASSAY --- p.108 / Chapter 6.1 --- Introduction --- p.108 / Chapter 6.2 --- Materials and methods --- p.109 / Chapter 6.2.1 --- Sample collection --- p.109 / Chapter 6.2.2 --- Experimental design --- p.110 / Chapter 6.3 --- Results --- p.111 / Chapter 6.4 --- Discussion --- p.114 / Chapter SECTION V: --- CONCLUDING REMARKS --- p.122 / Chapter CHAPTER 7: --- CONCLUSION AND FUTURE PERSPECTIVES --- p.123 / Chapter 7.1 --- Conclusion --- p.123 / Chapter 7.2 --- Future perspectives --- p.124 / Appendix 1 --- p.126 / Appendix II --- p.127 / REFERENCE --- p.133

Psychology / (M.A.(Clinical Psycholoy)

published_or_final_version / Obstetrics and Gynaecology / Master / Master of Philosophy

Introduction Voluntary Counselling and Testing (VCT) play a crucial role in the control and management of the HIV/AIDS epidemic. It is essential to understand the factors that influence the utilisation of VCT to improve implementation of measures that encourage VCT uptake. The purpose of this study was to determine factors affecting the utilisation of Voluntary Counselling and Testing (VCT) services for HIV/AIDS in Sowa, Botswana. Methodology A cross-sectional study was carried out by collecting data from 71 randomly selected participants residing in the community of Sowa, Botswana. Open and close ended questions were used. Relevant demographic data were collected from each respondent. Univariate and multivariate analysis was done using chi square test and logistic regression models through STATA11 statistical software. Results About half of the respondents were willing to utilise the VCT services. Willingness to utilise VCT was significantly associated with the respondents' choice of VCT centres, worry about confidentiality at VCT centres, and concern about their partners' being aware of their use of VCT. The expected reactions of their partner, family and community to the use of VCT by the respondents, in addition to the willingness of respondents to inform their partners the result of their HIV test, were other factors associated with the use of VCT. Multivariate regression showed that being "not worried" (AOR 33.48; 95CI 5.63 - 199.15) about confidentiality at VCT centres predicted the willingness to use VCT. In addition, not worried that their partners were aware they had utilised VCT (AOR 7.25; 95CI 1.69- 31.14), and readiness to inform their partners about the result of their HIV test (AOR 14.96; 95CI 3.74- 59.85), predicted the willingness of respondents to utilise VCT. Similarly, the expectation of a happy reaction from partner (AOR 47.02; 95CI 3.83- 577.11) and family (AOR 45.13 95CI 3.28-620.72) on being aware the respondent had used VCT, also predicted willingness to use VCT. Conclusion This study confirmed that stigma related to VCT use and confidentiality at VCT centres influence the utilisation of VCT services. Also, concern about partner's awareness that a respondent had used VCT and the expected response of partner, family, and community, were all important influencing factors to the utilisation of voluntary counseling and HIV testing services. These issues need to be addressed in order to increase VCT uptake among individuals and the community.

A temporalidade é considerada, na perspectiva teórica deste estudo, como uma condição essencial do indivíduo no mundo, possibilitando a constituição de sentido do percebido e do vivido e evidenciando, ainda, a circunstância da qual partem todas as possíveis concepções de tempo. Além disso, o homem também é considerado em sua intencionalidade, na qual está dirigido para algo, ou seja, só pode haver mundo percebido e definido para o sujeito que pode percebê-lo, estando voltado para ele. A síndrome de Asperger (SA), um transtorno invasivo de desenvolvimento pertencente ao espectro autístico, caracteriza-se por seus portadores apresentarem um modo de interação extremamente peculiar, no qual é considerada a presença de prejuízos relacionados à simbolização, à comunicação e à socialização. Em uma vertente teórica psicossocial, esses aspectos têm sido compreendidos a partir da possibilidade de haver uma inabilidade inata na criança autista que compromete a atitude conativo-afetiva (relacionada à intencionalidade) fundamental no processo de desenvolvimento. Questões a respeito da rigidez na experiência da duração de períodos de tempo, das dificuldades para aceitação e compreensão da possibilidade de mudanças de fatos previstos e da aparente restrição de perspectiva temporal, independentemente do nível intelectual, têm sido evidenciadas na prática clínica com esta população. Dessa forma, o presente trabalho objetivou caracterizar a noção de tempo e a temporalidade em portadores da síndrome de Asperger. Sua constituição ocorreu em duas fases complementares e fundamentais. Na primeira, a partir de uma amostra de trinta indivíduos em cada grupo (grupo síndrome de Asperger e grupo de comparação) verificaram-se aspectos de noção de duração tempo através de instrumentos quantitativos e qualitativos. Na segunda fase a partir de uma amostra de quinze indivíduos em cada grupo (grupo síndrome de Asperger e grupo de comparação) investigaram-se, através de entrevista qualitativa, temas relacionados à temporalidade. Na descrição dos resultados pôde-se constatar uma temporalidade restrita evidenciada pela presença de prejuízos relacionados à continuidade no contato com o ambiente, à limitada perspectiva no sentido do devir e noção de tempo a partir de elementos espaciais, em detrimento dos aspectos subjetivos, restringindo o compartilhar do tempo comum e a formação de projetos de vida / Based on a theoretic-phenomenological perspective, temporality is defined as an essential condition of a person in view of the world. This condition is determinant to build what is perceived and experienced as well as makes evident the circumstances from which all possible conceptions of time emerge. In addition, the subject is also considered accordingly to his intentionality by which he is directed towards something. In other words, a defined and perceived world can only exist for a subject who, being directed towards it, can conceive that world through his senses and consciousness. The Asperger syndrome (AS), a pervasive developmental disorder belonging to the autistic spectrum, is characterized in individuals showing a very peculiar pattern of interaction, particularly displaying deficits of symbolization, communication and socialization. Under a psychosocial point of view, these aspects have been understood as an innate lack of affective-conative attitude impairing the development of autistic children. In clinical practice dealing with these children, professionals have been asking questions on their inflexibility in time span experience, on the difficulties in accepting and understanding changes and on the apparent restriction of the perspective in temporality independently of their intellectual levels. Temporality in Asperger syndrome was herein investigated aiming at its characterization. The study was constituted by two complementary and fundamental phases. In the first phase (N = 30 for the AS group; N = 30 for the comparison group) aspects of time notion were evaluated through quantitative and qualitative instruments. In the second phase (N = 15 for the AS group; N = 15 for the comparison group) matters related to temporality were investigated through a qualitative interview. The results have shown a restricted temporality evidenced by impairments related to the continuity of contact with the environment, by a limited perspective in the sense of becoming, and by a notion of time based on spatial elements, all in detriment of subjective aspects, thus restricting time sharing with people and elaboration of projects of life