Objective: To explore quality of life in patients with multiple sclerosis. Concept Analysis: A concept analysis of quality of life in multiple sclerosis was conducted using Rodgers’ evolutionary concept analysis method. Eighty-three studies were reviewed. Study Proposal for Secondary Analysis: The proposal was for a secondary analysis using a quantitative, longitudinal, repeated measures design to determine if stem cell transplant has an impact on the quality of life of multiple sclerosis patients with aggressive disease. Summary of Findings: A concept analysis provided valuable insight into the use and understanding of the concept of quality of life in the multiple sclerosis literature. The subjective and multidimensional attributes of quality of life in multiple sclerosis were similar to findings in previous concept analyses of quality of life in general and in other diseases. The other attributes of the concept being measureable, modifiable and predictable revealed the uniqueness of quality of life in multiple sclerosis and provided a foundation for the development of future research. The results of the secondary analysis will provide new knowledge of a novel treatment for multiple sclerosis and its impact on quality of life. This advancement of knowledge in nursing and across health care disciplines will aid in the delivery of collaborative and comprehensive patient-centred care to ultimately improve the lives of multiple sclerosis patients.

Falls are a contributing factor to increased morbidity in the elderly and chronically ill populations and can affect overall quality of life. The literature indicates that oncology patients are a particularly vulnerable population who are further at risk for falls due to increased age, treatment related fatigue, side effects of medications, co-morbidities, decreased muscle tone, altered mental status, and anemia. Although patients with cancer are at a high risk for falls, this is not a well-documented patient problem in the nursing literature. This study examined the validity of the use of the Morse Fall Assessment Tool for use with Bone Marrow Transplant patients and explored other variables that might influence fall outcomes. This study was a retrospective chart review. The sample consisted of a total of 59 patients, which included 29 fallers and 30 non-fallers on a bone marrow transplant unit. There were 22 males and 37 females, ranging in age from 20 to 70 with a mean age of 53.9 (SD= 12.2).The results of this study indicate that there is a significant difference between fallers' (M= 43.8) and non-fallers' (M= 26.8) scores on the Morse Fall Scale (p= 0.000). Significant differences between groups were found with history of falls (p= 0.042), secondary diagnosis (p= 0.015), and muscle weakness (p= 0.025). Laboratory results from fallers and non-fallers revealed significant differences in platelet count (p= 0.003), BUN (p= 0.032), glucose (p= 0.009), and phosphorous (p= 0.001). This is the first study to document falls in the bone marrow transplant population. This study should be a stimulus for future studies conducted in the oncology and/or bone marrow transplant population. Studying falls in these patients is essential to understanding the physiological risk factors that may contribute to patient falls. Findings lay the foundation for studying falls in the bone marrow transplant population. It is crucial to study falls in this population in order to make appropriate assessments and interventions to keep this population free from injury.

The aim of the thesis was to find out and evaluate the long-term functional-motor consequences of stem cell transplantation in children patients and to propose possibilities of testing and physical therapy of these functional-motor consequences. The first part of the thesis is aiming to research available sources about bone marrow transplant and its consequencies. It summarizes possibilities of testing the bone marrow transplant patient`s motor abilities. Furthermore, it summarizes possibilities of physiotherapy in bone marrow transplant patients. The second part of the thesis processes BOT2 results in bone marrow transplant children patients . The thesis evaluates its results compared to healthy population and tests an impact of various factors on function-motor abilities of the patient. The children after bone marrow transplant have mostly below average results in motor tests, especially in manual coordination section. The hypothesis were partially confirmed. Children which underwent radiotherapy have function-motor consequencies in manual coordination and fine motor skills. Children which underwent corticotherapy have function-motor consequencies in manual coordination.

No description available.

No description available.

In oncology setting, there is a range of emotions felt by patients and nurses alike such as helplessness, anger, sadness and anxiety; and this is especially the case as patients near the end of life. The literature shows there is an interest in nurses' attitudes toward caring for patients who are near the end of life. This project examines the overall attitude of Bone Marrow Transplant (BMT) nurses' attitudes toward caring for patients who are near the end of life using the Frommelt Attitudes Toward Care of the Dying Scale (FATCOD) and a Demographic Data Sheet. This project investigated the demographic variables including age, gender, ethnicity, religion, Oncology Certified Nurses status, highest degree held, years of nursing experience, years of oncology experience, years of BMT experience, prior continuing education in end of life, and prior experience taking care of a terminally ill patient, to see if they contribute to these differences in attitudes. This was a descriptive project. The sample consisted of a total of 30 BMT nurses, which included 8 men, and 22 women who have worked on the BMT unit for over a year. The mean years of nursing experience was 13.9 (SD=10.10), mean years of oncology nursing experience was 8 (SD=5.80), and mean years of BMT experience was 7.2 (SD=.60). The results of this project indicate that there is a positive relationship between number of years of experience as a nurse and positive attitudes toward caring for patients who are near the end of life. Scores on the FATCOD had a possibility to range from 30-150, with higher scores indicating a more positive attitude toward care of the dying. The scores from this project ranged from 113-148 with a mean of 128.6, indicating an overall positive attitude toward caring for the dying. This project should spur further investigation into attitudes toward caring for patients who are near the end of life. Nurses strive to take the best possible care of their patients and having an understanding of their attitudes will help them recognize areas of strength and weakness. This project supports interventions that are already being done by End of Life (EOL) Committee on the BMT unit at the Moffitt Cancer Center. The EOL committee is helping to create positive attitudes about caring for patients who are near the end of life by both supportive and educational methods.

Les mutations du gène codant pour la protéine XIAP (X-Linked Inhibitor of Apoptosis Protein) sont à l’origine du syndrome lymphoprolifératif lié à l’X de type 2 (XLP-2). Il s’agit d’un déficit immunitaire rare caractérisé par une susceptibilité anormale à l’infection par le virus d’Epstein Barr (EBV). De plus, certains patients déficients en XIAP peuvent souffrir d’une pathologie intestinale parfois sévère. XIAP est molécule anti-apoptique qui a aussi été impliquée dans la signalisation et les fonctions de récepteurs de l’immunité innée, les récepteurs NOD1 et NOD2. Mon travail de thèse a eu pour objectif de caractériser cette pathologie intestinale et ses mécanismes physiopathologiques. Pour cela, nous avons étudié une cohorte de patients déficients en XIAP présentant une pathologie inflammatoire intestinale. Nous avons également recherché des mutations de XIAP dans une cohorte d’enfants ayant présenté comme unique signe clinique une pathologie intestinale précoce. Sur 83 patients testés, 3 patients porteurs de mutations de XIAP ont été identifiés. Nous avons ensuite montré que cette pathologie intestinale est très proche sur les plans clinique et histologique de la maladie de Crohn, qui est une des principales affections inflammatoires de l’intestin chez l’adulte. La maladie de Crohn est associée à des facteurs environnementaux et une susceptibilité génétique, dont les polymorphismes dans le gène NOD2 qui représentent le facteur plus important identifié à ce jour. Nous avons ensuite montré que les monocytes des patients déficients en XIAP ont un défaut de production d’IL-8, de MCP-1 et d’IL-10 en réponse à la stimulation de la voie NOD2. Par contre, nous n’avons pas mis en évidence d’excès d’apoptose des cellules épithéliales digestives chez les patients. En revanche, ils présentaient un nombre diminué de leur lymphocytes T innés circulants, Enfin, au cours de cette étude, nous avons identifié pour la première fois des femmes vectrices d’une mutation de XIAP à l’état hétérozygote, ayant développé des manifestations inflammatoires intestinales. Chez ces patientes, l’inactivation du chromosome X, qui normalement est biaisée en faveur de l’allèle sain chez les vectrices asymptomatiques, est de façon inhabituelle biaisée vers l’allèle muté contribuant à une diminution de l’expression de XIAP dans les monocytes et une altération de la voie NOD2. Ce travail a permis de montrer que le déficit en XIAP est responsable d’une forme monogénique de la maladie de Crohn. Nos résultats suggèrent que le défaut d’activation des monocytes par NOD2 est un mécanisme important de la pathogénèse de la maladie. Sur le plan thérapeutique, la greffe de moelle osseuse semble indiquée dans les formes sévères, puisque le principal défaut identifié est une anomalie du compartiment hématopoïétique, et chez deux de nos patients, elle a permis en effet une amélioration franche de la pathologie digestive qui était très sévère. / Mutations in the gene encoding for XIAP (X-Linked Inhibitor of Apoptosis Protein) are causing the X-linked lymphoproliferative syndrome type 2 (XLP-2). It is a rare immunodeficiency characterized by an abnormal susceptibility to infection with Epstein Barr virus (EBV). In addition, some XIAP-deficient patients may suffer from an intestinal disease that can be severe. XIAP is an anti-apoptotic molecule which has also been involved in the signaling and the functions of receptors of the innate immunity, NOD1 and NOD2. My thesis work aimed to characterize this intestinal pathology and its pathophysiology. For this, we studied a cohort of known XIAP-deficient patients with inflammatory bowel disease. We also looked for mutations of XIAP in a cohort of children who presented as the only clinical sign an early intestinal pathology. In 83 patients tested, three were identified as carrier of a XIAP mutation. We then showed that this intestinal pathology is clinically and histologically very close to Crohn’s disease, which is a major inflammatory bowel disease in adults. Crohn's disease is associated with environmental factors and genetic susceptibility, including polymorphisms in the NOD2 gene that represent the most important factor identified to date. We then showed that the monocytes from XIAP-deficient patients have a defect in production of IL-8, MCP-1 and IL-10 in response to stimulation of the NOD2 pathway. However, we did not reveal any excess of apoptosis in intestinal epithelial cells from XIAP-deficient patients. On the other hand, they showed a decreased number of their circulating innate T cells. Finally, during this study, we identified for the first time, female carriers of a mutation of XIAP in the heterozygous state, who developed intestinal inflammatory manifestations. In these patients, the inactivation of the X chromosome, which is normally biased toward the healthy allele in asymptomatic vectors, is biased to the unusually mutated allele contributing to a decrease of the expression of XIAP in monocytes and an alteration of the NOD2 pathway. This work showed that XIAP deficiency is responsible for a monogenic form of Crohn's disease. Our results suggest that the lack of monocyte activation by NOD2 is an important mechanism in the pathogenesis of the disease. Therapeutically, the bone marrow transplant seems indicated in severe cases, since the main identified defect is an abnormality of the hematopoietic compartment and in two of our patients, it allowed a clear improvement of the digestive pathology that was very severe.

La greffe de cellules souches hématopoïétiques est parfois le seul traitement curatif dans certaines pathologies pédiatriques telles que les leucémies, les sarcomes, les dédicits immunitaires ou les thalassémies. Le busulfan, un alkylant myéloablatif, fait partie de nombreux protocoles de conditionnement de greffe. C'est un médicament à marge thérapeutique étroite doté d'une forte variabilité pharmacocinétique, qui fait souvent l'objet d'un suivi thérapeutique pharmacologique afin d'optimiser la prise de greffe et d'éviter les risques de maladie veino-occlusive, principale toxicité du busulfan et responsable d'une morbidité et d'une mortalité importante. L'aire sous la courbe, dont il existe un intervalle cible recommandé, est aujourd'hui le paramètre pharmacocinétique utlisé pour effectuer le suivi thérapeutique du busulfan et l'adaptation posologique pendant le conditionnement.L'objectif de notre travail est d'étudier les relations entre la pharmacocinétique du busulfan et ses effets thérapeutiques et toxiques, en particulier la maladie veino-occlusive, et de développer des méthodes d'adaptation posologique pour optimiser l'usage de ce médicament chez l'enfant. Nos travaux ont conduit à plusieurs innovations méthodologiques, avec le développement et la validation d'un modèle pharmacocinétique de population non-paramétrique pour l'adaptation Bayésienne des posologies de busulfan en pédiatrie, et le développement d'une nouvelle méthode de détermination de la dose initiale maximisant la probabilité d'atteindre un intervalle cible d'exposition. Sur le plan clinique, nous avons pu mettre en évidence l'absence de bénéfice clinique de l'utilisation d'un intervalle cible d'exposition plus restreint que celui recommandé. Par ailleurs, nous avons identifié que la survenue de la MVO était liée à la concentration maximale de busulfan, et non à l'aire sous la courbe des concentrations en fonction du temps.L'ensemble de ces résultats est une contribution à l'amélioration de l'utilisation et du suivi thérapeutique pharmacologique du busulfan en onco-hématologie pédiatrique / Hematopoietic stem cell transplantation remains the only curative treatment in many pediatric diseases as leukemia, sarcoma, immunodeficiencies or thalassemia. Busulfan, a myeloablative alkylant, is the cornerstone of pre-transplant conditioning. It has a narrow therapeutic index and a large pharmacokinetic variability. For these reasons, therapeutic drug monitoring is required in order to optimize engraftment and avoid veno-occlusive disease, the main toxicity of busulfan which is responsible of significant morbidity and mortality. Today, the area under the curve, of which there is a target range recommended, is the pharmacokinetic parameter used to carry out therapeutic drug monitoring and dose adjustment during conditioning. Our objective is to investigate relationships between busulfan PK and clinical outcomes, especially veno-occlusive disease, and to develop methods of dose adjustment in order to optimize the use of this medication in children.Our work leaded to several methodological innovations, with the development and the validation of a non-parametric pharmacokinetic model for Bayesian dose adjustment of busulfan in pediatrics, and the development of a new method for the first dose determination maximizing the probability of achieving an exposure target range. From a clinical point a view, we highlighted the lack of clinical benefit in using an exposure target range narrower than those recommended. Furthermore, we identified that veno-occlusive incidence was correlated to the maximal concentration of busulfan, contrary to the area under the concentration-time curve.All of these results contribute to improving use and therapeutic monitoring of busulfan in pediatric onco-hematology

Submitted by Renata Lopes (renatasil82@gmail.com) on 2016-01-21T17:23:47Z No. of bitstreams: 1 marcelodiasdecastro.pdf: 35449715 bytes, checksum: 86414e568f3ffb10fc5fe7e10b848a83 (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2016-01-25T18:47:28Z (GMT) No. of bitstreams: 1 marcelodiasdecastro.pdf: 35449715 bytes, checksum: 86414e568f3ffb10fc5fe7e10b848a83 (MD5) / Made available in DSpace on 2016-01-25T18:47:28Z (GMT). No. of bitstreams: 1 marcelodiasdecastro.pdf: 35449715 bytes, checksum: 86414e568f3ffb10fc5fe7e10b848a83 (MD5) Previous issue date: 2014-06-06 / Diarréia é a maior causa de morbidade em pacientes submetidos a quimioterapia em altas doses e a transplante autólogo de células tronco hematopoéticas. Existem muitas causas de diarréia em pacientes que são transplantados, incluindo o efeito dos agentes quimioterápicos e as infecções. Neste estudo, foram avaliados 47 pacientes que receberam transplante no HU-UFJF entre maio de 2011 e maio de 2013. Todos os pacientes que apresentaram diarréia tiveram suas amostras de fezes enviadas para análise e pesquisa de agentes etiológicos através de exames específicos para fungos, coccídios, Strongyloides, parasitas intestinais, Clostridium difficile, e bactérias patogênicas. Trinta e nove pacientes (83%) tiveram diarréia, sendo que, destes, 35% tiveram diarréia induzida por quimioterapia, sete (17,5%) apresentaram coccídios, três (7,5%) tiveram Cândida sp, um (2,5%) Clostridium difficile e um paciente (2,5%) apresentou Giardia lamblia. Outros 30% apresentaram diarréia por outras causas. Houve uma tendência a mais diarréia em pacientes com mais de 50 anos (p=0.09), naqueles que receberam condicionamento com lomustina, etoposide, citarabina e melfalam (p=0.083) e houve um maior número de dias de neutropenia nos pacientes com diarréia (p=0.06). Porém nenhum fator de risco foi encontrado. Os dados apontam para a importância da correta identificação dos agentes etiológicos e da alta probabilidade de variações destes agentes em populações distintas. / Diarrhea is a major cause of morbidity for the patients undergoing high-dose chemotherapy and autologous hematopoietic stem cell transplantation (ASCT). There are multiple causes of diarrhea in patients undergoing transplantation incluing antineoplastic chemotherapy and infections. In this study, 47 patients underwent ASCT at the HU-UFJF between May 2011 and May 2013. All patients who presented with diarrhea consented to stool sample analysis for identification of the etiological agents through specific exams in search of fungi, coccidia, intestinal parasites, Strongyloides, C. difficile, and other pathogenic bacteria. Thirty-nine patients (83%) had diarrhea, among whom 35% had diarrhea induced by chemoterapy, seven (17.5%) presented with coccidia, three (7.5%) with Candida sp., one (2.5%) with C. difficile, and one (2.5%) with Giardia lamblia. Other 30% had diarrhea for other causes. There was a tendency toward a higher incidence of diarrhea in oldest 50 years (p=0.09) and those who received lomustine, etoposide, cytarabine, and melphalan conditioning (p=0.083) and a higher number of days of neutropenia in patients with diarrhea (p=0.06); however, no risk factors were identified. The results shows the importance of correctly identifying the etiological agent and highlights the possible varieties of agents in specific populations.

No description available.