Selecionamos consecutivamente 63 pacientes com doença mista do tecido conectivo (DMTC) (Kasukawa, 87) para determinar a relevância do padrão SD. Ter uma capilaroscopia periungueal (CPU) até cinco anos antes do início do estudo foi o principal critério de inclusão. Na entrada, avaliamos o envolvimento de órgãos e os auto-anticorpos. A idade média e o tempo de doença foram 45,3 + 10 e 8,45 + 5,42 anos, respectivamente. O padrão SD foi observado em 41 pacientes na entrada (65%) e em 45 na CPU prévia (71,5%), p = 0,20. Dez pacientes (16%) alteraram a CPU, 7 normalizaram e 3 desenvolveram padrão SD. O tempo de doença, número e freqüência de órgãos envolvidos foram semelhantes em pacientes com e sem padrão SD. Em contraste, a análise de cada parâmetro do padrão SD mostrou uma freqüência significativamente menor de áreas avasculares (AA) moderadas/graves na entrada, comparada com a CPU anterior (26,5 e 53%, p = 0,013). Além disto, 76% dos pacientes com doença intersticial pulmonar (TCAR) tiveram AA na entrada, enquanto apenas 24% dos pacientes com esta alteração não apresentavam este achado à CPU (p = 0,017). Adicionalmente, reduzida densidade capilar foi freqüentemente observada em pacientes submetidos à terapia imunossupressora, quando comparados com o grupo sem este tratamento (66,7 e 33,3%, p = 0,001). A CPU na DMTC é um processo dinâmico e a análise de cada parâmetro do padrão SD parece ser um bom indicador de doença intersticial pulmonar e gravidade de doença. / For determining the clinical relevance of SD-pattern in MCTD, sixty-three MCTD patients (Kasukawa´s criteria) were consecutively selected. The main inclusion criterion was availability of previous nailfold capillaroscopy (NC) 5 years before inclusion. At entry, organ involvement and autoantibody evaluation were performed. The mean age and disease duration were 45.3 + 10 and 8.45 + 5.42 years, respectively. SD-pattern was observed in 41 patients at entry (65%) and in 45 at previous NC (71.5%), p = 0.20. Ten patients (16%) changed NC, 7 normalized, and 3 developed SD-pattern. Disease duration, number and frequency of organ involvement were similar in patients with and without SD-pattern. In contrast, analysis of each SD-pattern parameter revealed a significant lower frequency of moderate/severe avascular areas (AA) at entry compared to previous examination (26.5 vs. 53%, p = 0.013). Moreover, 76% of patients with interstitial lung disease (HRCT) had AA at entry, whereas only 24% of patients with this alteration did not have this NC finding (p = 0.017). Furthermore, reduced capillary density was frequently observed in patients taking immunosuppressive therapy than those without (66.7 vs. 33.3%, p = 0.001). NC in MCTD is a dynamic process and analysis of each SD-pattern parameter seems to be a good indicator of lung involvement and disease severity

La prolongation de l’intervalle électrocardiographique QT est un facteur de risque d’arythmie ventriculaire et de mort subite. Cette anomalie, retrouvée chez certains patients atteints de lupus érythémateux disséminé, pourrait contribuer à la mortalité cardiovasculaire élevée dans cette population. L’anti-Ro/SSA, un auto-anticorps retrouvé chez environ 30% des patients atteints de lupus, est associé à la présence de blocs cardiaques chez le nouveau-né et pourrait aussi augmenter le risque de prolongation pathologique de l’intervalle QT chez l’adulte. Le présent mémoire est constitué de cinq chapitres traitant de l’association potentielle entre l’anticorps anti-Ro/SSA et la prolongation de l’intervalle QT. Le premier chapitre constitue une introduction permettant de mettre en contexte les éléments essentiels à la compréhension du projet d’étude. Le deuxième chapitre constitue une revue de l’état des connaissances actuelles sur le lien potentiel entre anti-Ro/SSA et intervalle QT. Le troisième chapitre présente le projet d’étude par l’intermédiaire d’un article publié dans Arthritis Care and Research. Dans cette étude, les patients de la cohorte de lupiques du Centre Universitaire de santé McGill ont subi des électrocardiogrammes dans l’objectif d’estimer l’association entre l’anti-Ro/SSA et les anomalies électrocardiographiques, en tenant compte d’autres facteurs démographiques et cliniques. L’association entre la prolongation de l’intervalle QT et la présence de l’anti-Ro/SSA a été démontrée (rapports de cotes ajustés de 5.1 à 12.6) et les patients porteurs de l’anti-Ro/SSA pourraient donc bénéficier de dépistage électrocardiographique systématique. Les points faibles et forts de cet article sont discutés dans le quatrième chapitre et des perspectives de recherches futures sont finalement abordées. / QT interval prolongation on the electrocardiogram is a risk factor for ventricular arrhythmias and sudden cardiac death. This abnormality is found in patients with systemic lupus erythematosus and could contribute to the high cardiovascular mortality rate in this population. Anti-Ro/SSA is an auto-antibody presents in about 30% of lupus patients and is associated with congenital cardiac block. This auto-antibody could also increase the risk of pathologic prolongation of the QT interval in adults. This master’s thesis is comprised of five chapters discussing the potential association between anti-Ro/SSA antibody and QT interval prolongation. The first chapter is an introduction to the essential elements for the understanding of the study project. The second chapter is a literature review of the potential link between anti-Ro/SSA and QT interval prolongation. The third chapter presents the study project through an article published in Arthritis Care and Research. In this study, patients from the McGill lupus cohort were invited to undergo electrocardiograms in order to estimate the association between anti-Ro/SSA antibody and electrocardiographic abnormalities, while taking into account the other potentially associated demographic and clinical factors. This study shows an association between anti-Ro/SSA and prolonged QT interval (Odds ratios: 5.1 to 12.6) and patients positive for anti-Ro/SSA may thus benefit from electrocardiographic testing. Strengths and weaknesses of this article are discussed in the fourth chapter and future research areas are finally explored.

Osteogenesis imperfecta, innate brittle bone disease, is a very serious disease. It is inheritable disease of connective tissue, which shows by abnormal fragility of bones. The occurrence of this disease is one case in 10 000 30 000 births. The theoretical part of the thesis deals with the disease itself, also the psychical impact on children suffering from Osteogenesis imperfecta and the impact on their families as well. At the beginning of the research, three goals of this thesis were set: map out (on the basis of theoretical and practical backgrounds) the pitfalls of life of children with the disease Osteogenesis imperfecta, find out what are the most common difficulties by children with the disease Osteogenesis imperfecta and also find out the experiences of nurses with the care for children with disease Osteogenesis imperfecta. The empirical part of the thesis was processed by means of qualitative research conducted by the technique of semi-structured interview and narrative biographical interview. The research set were nurses working at the child departments in hospitals, parents of ill children and also an adult woman with the diagnosis of Osteogenesis imperfecta and two doctors. From the research emerged that among the most common difficulties of children is pain, which decreases the quality of their life. Small children can't engage in typical activities of children, such as going to a playground, older children can't attend for example music festivals. Children feel fear from fractures and are therefore limited in sports. Because of injuries and their treatments, the children have more absences at schools and therefore are isolated from peers. Nevertheless, the children with this disease can live a happy life. From the results of the research also emerges, that nurses working at the child departments of the hospitals attended by children with this illness have a good experiences with their treatment. They are able to give parents important information and know the specifics of application of the treatment. The results of the diploma thesis were presented at a national student conference and will be further published.