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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
1

Síndrome de Down e o metabolismo do folato: análise genética e metabólica

Zampieri, Bruna Lancia 27 May 2009 (has links)
Made available in DSpace on 2016-01-26T12:51:21Z (GMT). No. of bitstreams: 1 brunalanciazampieri_dissert.pdf: 1379744 bytes, checksum: dbcae1559c8c7dba22eba8ef41eb9115 (MD5) Previous issue date: 2009-05-27 / Peripheral nerves injuries are frequent and can result in permanent loss of function. Currently, cell therapy constitutes a great possibility of improving nerve regeneration, increasing the success of the nerve repair. Objective: To evaluate the use of mononuclear cells in the regeneration process of the sciatic nerve after its section and followed by end-to-end neurorrhaphy. Material and Methods: Forty adult male Wistar rats (250 to 300 g) were divided into four groups: 1 - Sham; 2 after nerve section, neurorrhaphy was immediately performed; 3 - after neurorrhaphy, a culture medium was injected into the nerve segment distal to the suture; 4 - after neurorrhaphy, mononuclear cells were injected. Mononuclear cells were obtained from the bone marrow and separated by Ficoll-Hypaque method. The immunohistochemical and histological analyses were perfomed at the 4th postoperative day. The sciatic functional index, histological and morphometric analyses were used to evaluate nerve regeneration at the 6th. Results: The histological analysis showed that the nerves in which mononuclear cells were used presented a more accelerated degenerative process at the 4th postoperative day. According to the immunohistochemical evaluation, an increase of the neurotrophic factors was observed in the same period. In the 6th postoperative week, all the morphometric results of the mononuclear cell group were statistically higher compared to groups 2 and 3. In the 6th postoperative week there was a statistically significant improvement in the sciatic functional index for group 4 (mononuclear cell) compared to groups 2 and 3. Conclusion: Mononuclear cells have stimulated nerve regeneration. These cells have contributed to an increase in the cellularity and the neurotrophic factors in the microenvironment of the axotomized nerve. / A síndrome de Down (SD) é a cromossomopatia humana mais comum com prevalência aproximada de 1 em cada 660 nativivos e ocorre em 95% dos casos como resultado da não-disjunção cromossômica. Acredita-se que o metabolismo anormal do folato como resultado de polimorfismos genéticos possa levar à hipometilação do DNA e consequente não-disjunção cromossômica. Objetivos: Avaliar a influência dos polimorfismos Betaína-homocisteína metiltransferase (BHMT) G742A, Cistationina β-sintase (CβS) 844ins68 e T833C, Metilenotetrahidrofolato desidrogenase 1 (MTHFD1) G1958A, Transcobalamina 2 (TC2) A67G e C776G e das concentrações de homocisteína (Hcy) e ácido metilmalônico (MMA) plasmáticos e folato sérico no risco materno para a SD; investigar o impacto dos polimorfismos BHMT G742A, CβS 844ins68 e T833C, MTHFD1 G1958A, TC2 A67G e C776G nas concentrações de Hcy e MMA plasmáticos e folato sérico em mães caso e controle e em indivíduos com SD. Casuística e Método: Foram incluídas 105 mães de indivíduos com SD (grupo caso), 185 mulheres que tiveram filhos não afetados pela SD e sem história de aborto (grupo controle), e 90 indivíduos com trissomia livre do 21. As quantificações de Hcy e MMA plasmáticos foram obtidas pela técnica de cromatografia líquida/espectrometria de massas sequencial (LC-MS/MS) e a quantificação do folato sérico por quimioluminescência. A extração do DNA foi realizada a partir de leucócitos do sangue periférico para investigação do polimorfismo CβS 844ins68 pela técnica da reação em cadeia da polimerase (PCR), dos polimorfismos CβS T833C, MTHFD1 G1958A e TC2 C776G pela técnica de PCR seguida por digestão enzimática, e dos polimorfismos TC2 A67G e BHMT G742A pela técnica de Discriminação Alélica por PCR em tempo real. Resultados: O genótipo TC2 776 GG apresentou-se mais frequente no grupo de mães caso quando comparado ao grupo controle e foi associado ao aumento Resumo xii do risco materno para a SD no subgrupo de mulheres com idade materna inferior a 35 anos. Os genótipos combinados MTHFR 677 TC ou TT / TC2 776 CC, MTHFR 677 TC ou TT / MTHFD1 1958 GA ou AA e MTR 2756 AG ou GG / MTHFD1 1958 GA ou AA foram associados ao aumento do risco materno para a SD, enquanto os genótipos combinados TC2 67 AA / BHMT 742 GA ou AA apresentaram um efeito protetor. Considerando a quantificação dos metabólitos, concentrações aumentadas de MMA e concentrações reduzidas de Hcy e folato foram observadas no grupo de mães caso em comparação ao grupo controle. Concentrações aumentadas de Hcy foram observadas na presença do genótipo BHMT 742 GG quando comparado aos genótipos AA ou GA. Concentrações reduzidas de MMA foram associadas à presença dos genótipos BHMT 742 AA ou GA. Em relação ao grupo de indivíduos com SD, os polimorfismos TC2 C776G e BHMT G742A mostraram-se moduladores das concentrações de Hcy plasmática, enquanto o polimorfismo TC2 A67G afetou as concentrações de folato e os polimorfismos CßS T833C e 844ins68 as concentrações de MMA. Conclusão: Polimorfismos em genes envolvidos no metabolismo do folato exercem influência no risco materno para a SD e regulam as concentrações dos metabólitos envolvidos nesse metabolismo.
2

Komparace ošetřovatelské péče o nemocné s peritoneální dialýzou a hemodialýzou / Comparison of nursing care about patients with peritoneal dialysis and hemodialysis

JANOUŠKOVÁ, Jaroslava January 2014 (has links)
The number of patients with kidney disease is increasing worldwide. Such diseases include chronic kidney failure that needs dialysis treatment. Problems associated with providing nursing care to patients in a dialysis program are extensive and specific. Starting the treatment with a peritoneal dialysis or a haemodialysis causes a great psychological burden to patients. It noticeably affects not only patients' lives but also lives of their family and friends. Patients in the regular dialysis program are facing many health and social problems. Mutual trust between a nurse and a patient on dialysis to a certain extent influences the course of the treatment. Balanced and satisfied patient can live a better and more valuable life. The goals of the thesis: 1) To determine whether a comparably high quality nursing care is provided to patients with haemodialysis and peritoneal dialysis 2) To determine whether the approach to the provision of nursing care to the patients with haemodialysis and peritoneal dialysis is comparable. 3) To determine whether comparable forms of education and communication are used in providing nursing care for the patients with haemodialysis and peritoneal dialysis. Research questions: 1) Is the nursing care provided to the patients with haemodialysis and peritoneal dialysis of comparable quality? 2) A the approach to the provision of nursing care for patients with haemodialysis and peritoneal dialysis comparable? 3) Are comparable forms of education and communication used in providing nursing care for the patients with haemodialysis and peritoneal dialysis? Methods used: In the empirical part of the thesis a qualitative research was used to process data. The research was conducted through a non-standardized interview. Three sets of questions were created for the three groups of respondents, i.e. the respondents with peritoneal dialysis, respondents with haemodialysis and nurses who take care of patients with haemodialysis and peritoneal dialysis. The criterion for the selection of respondents was their willingness to cooperate. The nature and purpose of the research was explained to the addressed respondents. From the interviews with patients it was determined how they perceive the provided nursing care, the nurses' approach, and the way of interaction during haemodialysis and peritoneal dialysis. Interviews with nurses were focused on comparability and demands of nursing care for patients with haemodialysis and peritoneal dialysis, as well as on the used forms of communication and the way how to approach these patients. Results: The results of the research show that the care provided to patients with peritoneal dialysis as well as with haemodialysis is perceived by the responding patients with peritoneal dialysis, with haemodialysis and nurses as of the same quality. Peritoneal dialysis and haemodialysis each have their specificities and a different way of execution. Both are provided in differing environments. Peritoneal dialysis is done by the patient himself in their own social environment. During haemodialysis, nursing care is provided to the patient by nurses in a haemodialysis centre. As comparable is perceived by all respondents the nurses' approach to the patients, i.e. to each patient individually. In conclusion, the results imply that nurses during the contact with the patients with peritoneal dialysis and with haemodialysis use comparable forms of communication and education. Conclusion: At the present time there is an attempt to perform dialysis treatment to benefit the patient as much as possible. Peritoneal dialysis and haemodialysis are considered as equivalent substitute for renal function. They differ only in the principle and the method of executing. Nursing care provided to patients with peritoneal dialysis and with haemodialysis is perceived by the respondents as of comparable quality. The results of this thesis can be the basis for further research.

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